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Headache

MedGen UID:
9149
Concept ID:
C0018681
Sign or Symptom
Synonyms: Cephalalgia; Cephalalgias; Cephalgia; Cephalgias; Cephalodynia; Cephalodynias; Cranial Pain; Cranial Pains; Head Pain; Head Pains; Headaches; Pain, Cranial; Pain, Head; Pains, Cranial; Pains, Head
SNOMED CT: HA - Headache (25064002); Pain in head (25064002); Headache (25064002); Head pain (25064002); Cephalalgia (25064002); Cephalgia (25064002); Cephalodynia (25064002)
 
HPO: HP:0002315

Definition

Almost everyone has had a headache. Headache is the most common form of pain. It's a major reason people miss days at work or school or visit the doctor. The most common type of headache is a tension headache. Tension headaches are due to tight muscles in your shoulders, neck, scalp and jaw. They are often related to stress, depression or anxiety. You are more likely to get tension headaches if you work too much, don't get enough sleep, miss meals, or use alcohol. Other common types of headaches include migraines, cluster headaches, and sinus headaches. Most people can feel much better by making lifestyle changes, learning ways to relax and taking pain relievers. Not all headaches require a doctor's attention. But sometimes headaches warn of a more serious disorder. Let your health care provider know if you have sudden, severe headaches. Get medical help right away if you have a headache after a blow to your head, or if you have a headache along with a stiff neck, fever, confusion, loss of consciousness, or pain in the eye or ear. NIH: National Institute of Neurological Disorders and Stroke.  [from MedlinePlus]

Conditions with this feature

Chinese restaurant syndrome
MedGen UID:
891
Concept ID:
C0008127
Disease or Syndrome
Diaphyseal dysplasia
MedGen UID:
4268
Concept ID:
C0011989
Finding
Camurati-Engelmann disease (CED) is characterized by hyperostosis of the long bones and the skull, proximal muscle weakness, severe limb pain, a wide-based, waddling gait, and joint contractures. Facial features such as frontal bossing, enlargement of the mandible, proptosis, and cranial nerve impingement resulting in facial palsy are seen in severely affected individuals later in life.
Kartagener syndrome
MedGen UID:
9615
Concept ID:
C0022521
Disease or Syndrome
Primary ciliary dyskinesia (PCD) is associated with situs abnormalities, abnormal sperm motility, and abnormal ciliary structure and function that result in retention of mucus and bacteria in the respiratory tract leading to chronic otosinopulmonary disease. More than 75% of full-term neonates with PCD have ‘neonatal respiratory distress’ requiring supplemental oxygen for days to weeks. Chronic airway infection, apparent in early childhood, results in bronchiectasis that is almost uniformly present in adulthood. Nasal congestion and sinus infections, apparent in early childhood, persist through adulthood. Chronic/recurrent ear infection, apparent in most young children, can be associated with transient or later irreversible hearing loss. Situs inversus totalis (mirror-image reversal of all visceral organs with no apparent physiologic consequences) is present in 40%-50% of individuals with PCD; heterotaxy (discordance of right and left patterns of ordinarily asymmetric structures that can be associated with significant malformations) is present in approximately 12%. Virtually all males with PCD are infertile as a result of abnormal sperm motility.
Neurofibromatosis, type 2
MedGen UID:
18014
Concept ID:
C0027832
Neoplastic Process
Neurofibromatosis 2 (NF2) is characterized by bilateral vestibular schwannomas with associated symptoms of tinnitus, hearing loss, and balance dysfunction. The average age of onset is 18 to 24 years. Almost all affected individuals develop bilateral vestibular schwannomas by age 30 years. Affected individuals may also develop schwannomas of other cranial and peripheral nerves, meningiomas, ependymomas, and, very rarely, astrocytomas. Posterior subcapsular lens opacities that rarely progress to a visually significant cataract are the most common ocular findings and may be the first sign of NF2. Mononeuropathy that occurs in childhood is an increasingly recognized finding; it frequently presents as a persistent facial palsy, a squint (third nerve palsy), or hand/foot drop.
Polyarteritis nodosa
MedGen UID:
14681
Concept ID:
C0031036
Disease or Syndrome
Childhood-onset polyarteritis nodosa is an autosomal recessive systemic vascular inflammatory disorder characterized mainly by involvement of the skin, nervous system, kidney, and gastrointestinal tract. There is considerable variability in the severity and age at onset, although most patients have onset of symptoms in the first decade. Features include recurrent ischemic stroke affecting the small vessels of the brain and resulting in neurologic dysfunction, recurrent fever, elevated acute-phase proteins, myalgias, and livedo racemosa or reticularis with an inflammatory vasculitis on biopsy. Some patients develop hypertension, aneurysms, or ischemic necrosis of the digits (summary by Zhou et al., 2014 and Navon Elkan et al., 2014). Some patients present with clinical immunodeficiency (van Eyck et al., 2014).
Prune belly syndrome
MedGen UID:
18718
Concept ID:
C0033770
Congenital Abnormality
In its rare complete form, 'prune belly' syndrome comprises megacystis (massively enlarged bladder) with disorganized detrusor muscle, cryptorchidism, and thin abdominal musculature with overlying lax skin (summary by Weber et al., 2011).
Mitochondrial encephalomyopathy
MedGen UID:
57960
Concept ID:
C0162666
Disease or Syndrome
A heterogenous group of disorders characterized by alterations of mitochondrial metabolism that result in muscle and nervous system dysfunction. These are often multisystemic and vary considerably in age at onset (usually in the first or second decade of life), distribution of affected muscles, severity, and course. (From Adams et al., Principles of Neurology, 6th ed, pp984-5)
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
MedGen UID:
56485
Concept ID:
C0162671
Disease or Syndrome
MELAS syndrome, comprising mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, is a genetically heterogeneous mitochondrial disorder with a variable clinical phenotype. The disorder is accompanied by features of central nervous system involvement, including seizures, hemiparesis, hemianopsia, cortical blindness, and episodic vomiting (Pavlakis et al., 1984; Montagna et al., 1988). Other mitochondrial encephalomyopathies include Leigh syndrome (LS; 256000), Kearns-Sayre syndrome (KSS; 530000), MERRF syndrome (545000), and Leber optic atrophy (535000).
Myoclonus with epilepsy with ragged red fibers
MedGen UID:
56486
Concept ID:
C0162672
Disease or Syndrome
A very rare mitochondrial abnormality characterized by myoclonic epilepsy and the microscopic finding of ragged-red fibers in muscle tissues.
Choroid plexus papilloma
MedGen UID:
64439
Concept ID:
C0205770
Neoplastic Process
Choroid plexus tumors are of neuroectodermal origin and range from benign choroid plexus papillomas (CPPs) to malignant choroid carcinomas (CPCs). These rare tumors generally occur in childhood, but have also been reported in adults. Patients typically present with signs and symptoms of increased intracranial pressure including headache, hydrocephalus, papilledema, nausea, vomiting, cranial nerve deficits, gait impairment, and seizures (summary by Safaee et al., 2013).
Sclerosteosis
MedGen UID:
120530
Concept ID:
C0265301
Congenital Abnormality
SOST-related sclerosing bone dysplasias include sclerosteosis and van Buchem disease; both are disorders of osteoblast hyperactivity. The major clinical features of sclerosteosis are progressive skeletal overgrowth and variable syndactyly, usually of the second (index) and third (middle) fingers. Affected individuals appear normal at birth except for syndactyly. Distinctive facial features including asymmetric mandibular hypertrophy, frontal bossing, and midface hypoplasia are usually apparent by mid-childhood. Hyperostosis of the skull results in narrowing of the foramina, causing entrapment of the seventh cranial nerve (often leading to facial palsy) and entrapment of the eighth cranial nerve (often resulting in deafness in mid-childhood). In sclerosteosis, hyperostosis of the calvarium reduces intracranial volume, increasing the risk for potentially lethal elevation of intracranial pressure. Survival of individuals with sclerosteosis into old age is unusual. The manifestations of van Buchem disease are generally milder than sclerosteosis and syndactyly is absent. Based on a few case reports, it is also likely that the spectrum of SOST-related sclerosing bone dysplasias includes an autosomal dominant form of craniodiaphyseal dysplasia (CDD).
Deficiency of cytochrome-b5 reductase
MedGen UID:
75661
Concept ID:
C0268193
Disease or Syndrome
Methemoglobinemia due to NADH-cytochrome b5 reductase deficiency is an autosomal recessive disorder characterized clinically by decreased oxygen carrying capacity of the blood, with resultant cyanosis and hypoxia (review by Percy and Lappin, 2008). There are 2 types of methemoglobin reductase deficiency. In type I, the defect affects the soluble form of the enzyme, is restricted to red blood cells, and causes well-tolerated methemoglobinemia. In type II, the defect affects both the soluble and microsomal forms of the enzyme and is thus generalized, affecting red cells, leukocytes, and all body tissues. Type II methemoglobinemia is associated with mental deficiency and other neurologic symptoms. The neurologic symptoms may be related to the major role played by the cytochrome b5 system in the desaturation of fatty acids (Vives-Corrons et al., 1978; Kaplan et al., 1979).
Cytochrome-c oxidase deficiency
MedGen UID:
75662
Concept ID:
C0268237
Congenital Abnormality
Complex IV (cytochrome c oxidase; EC 1.9.3.1) is the terminal enzyme of the respiratory chain and consists of 13 polypeptide subunits, 3 of which are encoded by mitochondrial DNA. The 3 mitochondrially encoded proteins in the cytochrome oxidase complex are the actual catalytic subunits that carry out the electron transport function (Saraste, 1983). See 123995 for discussion of some of the nuclear-encoded subunits. Shoubridge (2001) provided a comprehensive review of cytochrome c oxidase deficiency and noted that most isolated COX deficiencies are inherited as autosomal recessive disorders caused by mutations in nuclear-encoded genes; mutations in the mtDNA-encoded COX subunit genes are relatively rare.
Idiopathic livedo reticularis with systemic involvement
MedGen UID:
76449
Concept ID:
C0282492
Disease or Syndrome
Sneddon syndrome is a noninflammatory arteriopathy characterized by onset of livedo reticularis in the second decade and onset of cerebrovascular disease in early adulthood (summary by Bras et al., 2014). Livedo reticularis occurs also with polyarteritis nodosa, systemic lupus erythematosus, and central thrombocythemia, any one of which may be accompanied by cerebrovascular accidents (Bruyn et al., 1987).
Familial cold urticaria
MedGen UID:
137986
Concept ID:
C0343068
Disease or Syndrome
Familial cold autoinflammatory syndrome is characterized clinically by recurrent attacks of a maculopapular rash associated with arthralgias, myalgias, fever and chills, and swelling of the extremities after exposure to cold. Despite the first description of 'cold urticaria' (Kile and Rusk, 1940) the rash in most patients is nonpruritic and nonurticarial. Rarely, some patients may also develop late-onset renal amyloidosis (Hoffman et al., 2000). Overlapping syndromes also caused by mutation in the NLRP3 gene include Muckle-Wells syndrome (CAPS2; 191900), which has a high frequency of amyloidosis and late-onset sensorineural deafness, and chronic neurologic cutaneous and articular syndrome (CINCA, CAPS3; 607115), which shows earlier onset and a more severe phenotype. Genetic Heterogeneity of Familial Cold Autoinflammatory Syndrome See also FCAS2 (611762), caused by mutation in the NLRP12 gene (609648) on chromosome 19q13; FCAS3 (614468), caused by mutation in the PLCG2 gene (600220) on chromosome 16q; and FCAS4 (616115), caused by mutation in the NLRC4 gene (606831) on chromosome 2p22.
Hyperimmunoglobulin D with periodic fever
MedGen UID:
140768
Concept ID:
C0398691
Disease or Syndrome
Mevalonate kinase deficiency is a condition characterized by recurrent episodes of fever, which typically begin during infancy. Each episode of fever lasts about 3 to 6 days, and the frequency of the episodes varies among affected individuals. In childhood the fevers seem to be more frequent, occurring as often as 25 times a year, but as the individual gets older the episodes occur less often.Mevalonate kinase deficiency has additional signs and symptoms, and the severity depends on the type of the condition. There are two types of mevalonate kinase deficiency: a less severe type called hyperimmunoglobulinemia D syndrome (HIDS) and a more severe type called mevalonic aciduria (MVA).During episodes of fever, people with HIDS typically have enlargement of the lymph nodes (lymphadenopathy), abdominal pain, joint pain, diarrhea, skin rashes, and headache. Occasionally they will have painful sores called aphthous ulcers around their mouth. In females, these may also occur around the vagina. A small number of people with HIDS have intellectual disability, problems with movement and balance (ataxia), eye problems, and recurrent seizures (epilepsy). Rarely, people with HIDS develop a buildup of protein deposits (amyloidosis) in the kidneys that can lead to kidney failure. Fever episodes in individuals with HIDS can be triggered by vaccinations, surgery, injury, or stress. Most people with HIDS have abnormally high levels of immune system proteins called immunoglobulin D (IgD) and immunoglobulin A (IgA) in the blood. It is unclear why people with HIDS have high levels of IgD and IgA. Elevated levels of these immunoglobulins do not appear to cause any signs or symptoms. Individuals with HIDS do not have any signs and symptoms of the condition between fever episodes and typically have a normal life expectancy.People with MVA have signs and symptoms of the condition at all times, not just during episodes of fever. Affected children have developmental delay, progressive ataxia, progressive problems with vision, and failure to gain weight and grow at the expected rate (failure to thrive). Individuals with MVA typically have an unusually small, elongated head. In childhood or adolescence, affected individuals may develop eye problems such as inflammation of the eye (uveitis), a blue tint in the white part of the eye (blue sclera), an eye disorder called retinitis pigmentosa that causes vision loss, or clouding of the lens of the eye (cataracts). Affected adults may have short stature and may develop muscle weakness (myopathy) later in life. During fever episodes, people with MVA may have an enlarged liver and spleen (hepatosplenomegaly), lymphadenopathy, abdominal pain, diarrhea, and skin rashes. Children with MVA who are severely affected with multiple problems may live only into early childhood; mildly affected individuals may have a normal life expectancy.
Exercise intolerance
MedGen UID:
603270
Concept ID:
C0424551
Finding
A reduction in the ability to perform or withstand activities that induce physical or mental exertion.
Osteopathia striata with cranial sclerosis
MedGen UID:
96590
Concept ID:
C0432268
Disease or Syndrome
Osteopathia striata with cranial sclerosis is an X-linked dominant sclerosing bone dysplasia that presents in females with macrocephaly, cleft palate, mild learning disabilities, sclerosis of the long bones and skull, and longitudinal striations visible on radiographs of the long bones, pelvis, and scapulae (Jenkins et al., 2009). In males, the disorder is usually associated with fetal or neonatal lethality. Occasional surviving males have, in addition to hyperostosis, cardiac, intestinal, and genitourinary malformations. Osteosclerosis in the cranial and facial bones leads to disfigurement and to disability due to pressure on cranial nerves, e.g., deafness. Osteopathia striata is a frequent feature of focal dermal hypoplasia (FDH; 305600). Although early reports of familial cases of this disorder appeared to suggest autosomal dominant inheritance (see, e.g., Horan and Beighton, 1978 and Konig et al., 1996), reappraisal of the literature (Behninger and Rott, 2000; Rott et al., 2003) and the finding of a molecular basis for the disorder by Jenkins et al. (2009) confirms that the inheritance pattern is X-linked dominant. Affected males who survive have a more severe phenotype than affected females, and sporadic male cases may result from somatic mosaicism (Behninger and Rott, 2000).
Hyperphosphatasemia tarda
MedGen UID:
98484
Concept ID:
C0432272
Congenital Abnormality
SOST-related sclerosing bone dysplasias include sclerosteosis and van Buchem disease; both are disorders of osteoblast hyperactivity. The major clinical features of sclerosteosis are progressive skeletal overgrowth and variable syndactyly, usually of the second (index) and third (middle) fingers. Affected individuals appear normal at birth except for syndactyly. Distinctive facial features including asymmetric mandibular hypertrophy, frontal bossing, and midface hypoplasia are usually apparent by mid-childhood. Hyperostosis of the skull results in narrowing of the foramina, causing entrapment of the seventh cranial nerve (often leading to facial palsy) and entrapment of the eighth cranial nerve (often resulting in deafness in mid-childhood). In sclerosteosis, hyperostosis of the calvarium reduces intracranial volume, increasing the risk for potentially lethal elevation of intracranial pressure. Survival of individuals with sclerosteosis into old age is unusual. The manifestations of van Buchem disease are generally milder than sclerosteosis and syndactyly is absent. Based on a few case reports, it is also likely that the spectrum of SOST-related sclerosing bone dysplasias includes an autosomal dominant form of craniodiaphyseal dysplasia (CDD).
Vibratory angioedema
MedGen UID:
99175
Concept ID:
C0473546
Disease or Syndrome
Vibratory urticaria is a condition in which exposing the skin to vibration, repetitive stretching, or friction results in allergy symptoms such as hives (urticaria), swelling (angioedema), redness (erythema), and itching (pruritus) in the affected area. The reaction can be brought on by towel drying, hand clapping, running, a bumpy ride in a vehicle, or other repetitive stimulation. Headaches, fatigue, faintness, blurry vision, a metallic taste in the mouth, facial flushing, and more widespread swelling (especially of the face) can also occur during these episodes, especially if the stimulation is extreme or prolonged. The reaction occurs within a few minutes of the stimulation and generally lasts up to an hour. Affected individuals can have several episodes per day.
Multisystem disorder
MedGen UID:
107853
Concept ID:
C0559758
Disease or Syndrome
Chiari malformation type I
MedGen UID:
196689
Concept ID:
C0750929
Disease or Syndrome
Chiari malformation type I (CM1) is the protrusion of the cerebellar tonsils through the foramen magnum, defined radiologically as tonsillar descent of 5 mm or more. CM1 is associated with syringomyelia (see 186700) in up to 80% of cases. Although many individuals with CM1 are asymptomatic, the malformation can cause headaches, ocular disturbances, otoneurologic disturbances, lower cranial nerve signs, cerebellar ataxia, or spasticity. Onset of symptoms is usually in the third decade of life (Speer et al., 2003). Since many cases of CM1 are asymptomatic, prevalence estimates may not be accurate. However, a retrospective investigation of brain MRIs reported the prevalence of CM1 to be 1 in 1,280 individuals (Meadows et al., 2000).
Leber optic atrophy
MedGen UID:
182973
Concept ID:
C0917796
Disease or Syndrome
Mitochondrial diseases are a clinically heterogeneous group of disorders that arise as a result of dysfunction of the mitochondrial respiratory chain. They can be caused by mutation of genes encoded by either nuclear DNA or mitochondrial DNA (mtDNA). While some mitochondrial disorders only affect a single organ (e.g., the eye in Leber hereditary optic neuropathy [LHON]), many involve multiple organ systems and often present with prominent neurologic and myopathic features. Mitochondrial disorders may present at any age. Many individuals with a mutation of mtDNA display a cluster of clinical features that fall into a discrete clinical syndrome, such as the Kearns-Sayre syndrome (KSS), chronic progressive external ophthalmoplegia (CPEO), mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS), myoclonic epilepsy with ragged-red fibers (MERRF), neurogenic weakness with ataxia and retinitis pigmentosa (NARP), or Leigh syndrome (LS). However, considerable clinical variability exists and many individuals do not fit neatly into one particular category, which is well-illustrated by the overlapping spectrum of disease phenotypes (including mitochondrial recessive ataxia syndrome (MIRAS) resulting from mutation of the nuclear gene POLG, which has emerged as a major cause of mitochondrial disease. Common clinical features of mitochondrial disease – whether involving a mitochondrial or nuclear gene – include ptosis, external ophthalmoplegia, proximal myopathy and exercise intolerance, cardiomyopathy, sensorineural deafness, optic atrophy, pigmentary retinopathy, and diabetes mellitus. Common central nervous system findings are fluctuating encephalopathy, seizures, dementia, migraine, stroke-like episodes, ataxia, and spasticity. A high incidence of mid- and late pregnancy loss is a common occurrence that often goes unrecognized.
Oxyphilic adenoma
MedGen UID:
307150
Concept ID:
C1510502
Neoplastic Process
Oncocytomas are usually benign tumors that occur in various organs but particularly in the kidneys. Histologic evaluation of renal oncocytomas shows that they are composed entirely of peculiar epithelial cells with granular eosinophilic cytoplasm. Ultrastructural characterization exhibits densely packed cells with mitochondria, which show morphologic differences from those in normal cells. On the average they are larger than those in renal carcinoma cells and their shape is abnormal (summary by Welter et al., 1989).
Colorectal Cancer
MedGen UID:
287122
Concept ID:
C1527249
Neoplastic Process
The colon and rectum are part of the large intestine. Colorectal cancer occurs when tumors form in the lining of the large intestine. It is common in both men and women. The risk of developing colorectal cancer rises after age 50. You're also more likely to get it if you have colorectal polyps, a family history of colorectal cancer, ulcerative colitis or Crohn's disease, eat a diet high in fat, or smoke. Symptoms of colorectal cancer include. -Diarrhea or constipation. -A feeling that your bowel does not empty completely. -Blood (either bright red or very dark) in your stool. -Stools that are narrower than usual. -Frequent gas pains or cramps, or feeling full or bloated. -Weight loss with no known reason. -Fatigue. -Nausea or vomiting. Because you may not have symptoms at first, it's important to have screening tests. Everyone over 50 should get screened. Tests include colonoscopy and tests for blood in the stool. Treatments for colorectal cancer include surgery, chemotherapy, radiation, or a combination. Surgery can usually cure it when it is found early. NIH: National Cancer Institute.
Infantile histiocytoid cardiomyopathy
MedGen UID:
310844
Concept ID:
C1708371
Disease or Syndrome
Histiocytoid cardiomyopathy, which was initially described by Voth (1962), goes by various names, including infantile xanthomatous cardiomyopathy (MacMahon, 1971), focal lipid cardiomyopathy (Bove and Schwartz, 1973), oncocytic cardiomyopathy (Silver et al., 1980), infantile cardiomyopathy with histiocytoid change (Ferrans et al., 1976), and foamy myocardial transformation of infancy (Yatani et al., 1988). The disorder is a rare but distinctive entity of infancy and childhood characterized by the presence of characteristic pale granular foamy histiocyte-like cells within the myocardium. It usually affects children younger than 2 years of age, with a clear predominance of females over males. Infants present with dysrhythmia or cardiac arrest, and the clinical course is usually fulminant, sometimes simulating sudden infant death syndrome (Andreu et al., 2000).
Episodic ataxia type 1
MedGen UID:
318554
Concept ID:
C1719788
Disease or Syndrome
Episodic ataxia type 1 (EA1) is a potassium channelopathy characterized by constant myokymia and dramatic episodes of spastic contractions of the skeletal muscles of the head, arms, and legs with loss of both motor coordination and balance. During attacks individuals may experience a number of variable symptoms including vertigo, blurred vision, diplopia, nausea, headache, diaphoresis, clumsiness, stiffening of the body, dysarthric speech, and difficulty in breathing, among others. EA1 may be associated with epilepsy. Other findings can include delayed motor development, cognitive disability, choreoathetosis, and carpal spasm. Usually, onset is in childhood or early adolescence.
Dystonia 9
MedGen UID:
371427
Concept ID:
C1832855
Disease or Syndrome
Dystonia-9 is an autosomal dominant neurologic disorder characterized by childhood onset of paroxysmal choreoathetosis and progressive spastic paraplegia. Most show some degree of cognitive impairment. Other variable features may include seizures, migraine headaches, and ataxia (summary by Weber et al., 2011).
Enamel hypoplasia, cataracts, and aqueductal stenosis
MedGen UID:
371497
Concept ID:
C1833163
Disease or Syndrome
Ectodermal dysplasia mental retardation syndactyly
MedGen UID:
322135
Concept ID:
C1833169
Disease or Syndrome
Erythrocytosis, familial, 2
MedGen UID:
332974
Concept ID:
C1837915
Disease or Syndrome
Familial erythrocytosis-2 is an autosomal recessive disorder characterized by increased red blood cell mass, increased serum levels of erythropoietin (EPO; 133170), and normal oxygen affinity. Patients with ECYT2 carry a high risk for peripheral thrombosis and cerebrovascular events (Cario, 2005). Familial erythrocytosis-2 has features of both primary and secondary erythrocytosis. In addition to increased circulating levels of EPO, consistent with a secondary, extrinsic process, erythroid progenitors are also hypersensitive to EPO, consistent with a primary, intrinsic process (Prchal, 2005).
Sacral defect with anterior meningocele
MedGen UID:
325455
Concept ID:
C1838568
Disease or Syndrome
Sacral defect with anterior meningocele (SDAM) is a form of caudal dysgenesis. It is present at birth and becomes symptomatic later in life, usually because of obstructive labor in females, chronic constipation, or meningitis. Inheritance is autosomal dominant (Chatkupt et al., 1994). Welch and Aterman (1984) gave a population frequency of 0.14%. Caudal dysgenesis syndrome and caudal regression syndrome are broad terms that refer to a heterogeneous constellation of congenital caudal anomalies affecting the caudal spine and spinal cord, the hindgut, the urogenital system, and the lower limbs. Approximately 15 to 25% of mothers of children with caudal dysgenesis have insulin-dependent diabetes mellitus (222100) (Lynch et al., 2000). See also Currarino syndrome (176450), a similar disorder caused by mutation in the HLXB9 gene (142994) on chromosome 7q36. Currarino syndrome classically comprises the triad of hemisacrum, anorectal malformation, and presacral mass. However, Currarino syndrome also shows phenotypic variability: Lynch et al. (2000) stated that there is variable expressivity of clinical features and that some patients with Currarino syndrome are asymptomatic. Kochling et al. (2001) found the complete triad of Currarino syndrome in only 8 of 23 patients with mutations in the HLXB9 gene, These reports suggest that some patients previously reported as having forms of sacral agenesis, including SDAM, may have had Currarino syndrome and vice versa. See also spina bifida (182940), which can be seen in some patients with sacral agenesis or caudal regression syndrome and may be etiologically related.
Aminoglycoside-induced deafness
MedGen UID:
374074
Concept ID:
C1838854
Disease or Syndrome
Nonsyndromic mitochondrial hearing loss and deafness is characterized by moderate-to-profound hearing loss and a pathogenic variant in either MT-RNR1 or MT-TS1. Pathogenic variants in MT-RNR1 can be associated with predisposition to aminoglycoside ototoxicity and/or late-onset sensorineural hearing loss. Pathogenic variants in MT-TS1 are usually associated with childhood onset of sensorineural hearing loss. Hearing loss associated with aminoglycoside ototoxicity is bilateral and severe to profound, occurring within a few days to weeks after administration of any amount (even a single dose) of an aminoglycoside antibiotic such as gentamycin, tobramycin, amikacin, kanamycin, or streptomycin. Although hearing loss associated with pathogenic variants in MT-TS1 is considered nonsyndromic, the m.7445A>G substitution is also associated with palmoplantar keratoderma (scaling, hyperkeratosis, and honeycomb appearance of the skin of the palms, soles, and heels) in some families.
Myoglobinuria, recurrent
MedGen UID:
333201
Concept ID:
C1838877
Finding
Recurring episodes of myoglobinuria, i.e., of the presence of myoglobin in the urine. This is usually a consequence of rhabdomyolysis, i.e., of the destruction of muscle tissue.
Leigh syndrome due to mitochondrial complex I deficiency
MedGen UID:
333220
Concept ID:
C1838951
Disease or Syndrome
Striatal necrosis, bilateral, with dystonia
MedGen UID:
325555
Concept ID:
C1838954
Gene or Genome
Mitochondrial complex I deficiency
MedGen UID:
374101
Concept ID:
C1838979
Disease or Syndrome
Isolated complex I deficiency is the most common enzymatic defect of the oxidative phosphorylation disorders (McFarland et al., 2004; Kirby et al., 2004). It causes a wide range of clinical disorders, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, nonspecific encephalopathy, hypertrophic cardiomyopathy, myopathy, liver disease, Leigh syndrome (256000), Leber hereditary optic neuropathy (535000), and some forms of Parkinson disease (see 556500) (Loeffen et al., 2000; Pitkanen et al., 1996; Robinson, 1998). Genetic Heterogeneity of Complex I Deficiency Mitochondrial complex I deficiency shows extreme genetic heterogeneity and can be caused by mutation in nuclear-encoded genes or in mitochondrial-encoded genes. There are no obvious genotype-phenotype correlations, and inference of the underlying basis from the clinical or biochemical presentation is difficult, if not impossible (summary by Haack et al., 2012). However, the majority of cases are caused by mutations in nuclear-encoded genes (Loeffen et al., 2000; Triepels et al., 2001). Complex I deficiency with autosomal recessive inheritance results from mutation in nuclear-encoded subunit genes, including NDUFV1 (161015), NDUFV2 (600532), NDUFS1 (157655), NDUFS2 (602985), NDUFS3 (603846), NDUFS4 (602694), NDUFS6 (603848), NDUFS7 (601825), NDUFS8 (602141), NDUFA2 (602137), NDUFA11 (612638), NDUFAF3 (612911), NDUFA10 (603835), NDUFB3 (603839), NDUFB9 (601445), and the complex I assembly genes B17.2L (609653), HRPAP20 (611776), C20ORF7 (612360), NUBPL (613621), NDUFAF1 (606934), and TMEM126B (615533). The disorder can also be caused by mutation in other nuclear-encoded genes, including FOXRED1 (613622), ACAD9 (611103; see 611126), and MTFMT (611766; see 256000). X-linked inheritance is observed with mutations in the NDUFA1 (300078) and NDUFB11 (300403) genes. Complex I deficiency with mitochondrial inheritance has been associated with mutation in 6 mitochondrial-encoded components of complex I: MTND1 (516000), MTND2 (516001), MTND3 (516002), MTND4 (516003), MTND5 (516005), MTND6 (516006). Most of these patients have a phenotype of Leber hereditary optic neuropathy (LHON; 535000) or Leigh syndrome (256000). Features of complex I deficiency may also be caused by mutation in other mitochondrial genes, including MTTS2 (590085).
Leber hereditary optic neuropathy with dystonia
MedGen UID:
333240
Concept ID:
C1839040
Disease or Syndrome
Hyperthermia, cutaneous, with headaches and nausea
MedGen UID:
374453
Concept ID:
C1840373
Disease or Syndrome
Osteopetrosis autosomal dominant type 1
MedGen UID:
335932
Concept ID:
C1843330
Disease or Syndrome
The osteopetroses are a heterogeneous group of genetic disorders characterized by increased bone density due to impaired bone resorption by osteoclasts. Autosomal dominant osteopetrosis-1 is characterized by generalized osteosclerosis most pronounced in the cranial vault. Patients are often asymptomatic, but some suffer from pain and hearing loss. It appears to be the only type of osteopetrosis not associated with an increased fracture rate. Autosomal dominant osteopetrosis-2 (OPTA2; 166600) is characterized by sclerosis predominantly involving the spine, the pelvis, and the skull base. Fragility of bones and dental abscess are leading complications. Genetic Heterogeneity of Autosomal Dominant Osteopetrosis Autosomal dominant osteopetrosis-2 (OPTA2; 166600) is caused by mutation in the CLCN7 gene (602727) on chromosome 16p13.
Episodic ataxia, type 3
MedGen UID:
376220
Concept ID:
C1847839
Disease or Syndrome
The hereditary ataxias are a group of genetic disorders characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements. Frequently, atrophy of the cerebellum occurs. In this GeneReview the hereditary ataxias are categorized by mode of inheritance and gene (or chromosome locus) in which pathogenic variants occur.
Familial erythrocytosis, 1
MedGen UID:
343583
Concept ID:
C1851490
Disease or Syndrome
Familial erythrocytosis-1 is an autosomal dominant disorder characterized by increased serum red blood cell mass and hemoglobin concentration, hypersensitivity of erythroid progenitors to EPO, and low serum levels of EPO. There is no increase in platelets or leukocytes and the disorder does not progress to leukemia (Kralovics et al., 1998). Genetic Heterogeneity of Familial Erythrocytosis See also ECYT2 (263400), caused by mutation in the VHL gene (608537) on chromosome 3p25; ECYT3 (609820), caused by mutation in the EGLN1 gene (606425) on chromosome 1q42; and ECYT4 (611783), caused by mutation in the EPAS1 gene (603349) on chromosome 2p. Erythrocytosis may also be caused by somatic mutation in the JAK2 (147796) or the SH2B3 (605093) gene on chromosome 9p24 and 12q24, respectively. For a review of the genetics of congenital erythrocytosis, see Bento et al. (2014).
Deafness, sensorineural, with peripheral neuropathy and arterial disease
MedGen UID:
343766
Concept ID:
C1852280
Disease or Syndrome
Cerebral cavernous malformation
MedGen UID:
349362
Concept ID:
C1861784
Disease or Syndrome
Cerebral cavernous malformations (CCMs) are vascular malformations in the brain and spinal cord comprising closely clustered, enlarged capillary channels (caverns) with a single layer of endothelium without mature vessel wall elements or normal intervening brain parenchyma. The diameter of CCMs ranges from a few millimeters to several centimeters. CCMs increase or decrease in size and increase in number over time. Hundreds of lesions may be identified, depending on the person’s age and the quality and type of brain imaging used. Although CCMs have been reported in infants and children, the majority become evident between the second and fifth decades with findings such as seizures, focal neurologic deficits, nonspecific headaches, and cerebral hemorrhage. Up to 50% of individuals with FCCM remain symptom free throughout their lives. Cutaneous vascular lesions are found in 9% of those with familial cerebral cavernous malformations (FCCM; see Diagnosis/testing) and retinal vascular lesions in almost 5%.
Arteritis, familial granulomatous, with juvenile polyarthritis
MedGen UID:
349529
Concept ID:
C1862510
Disease or Syndrome
Cerebral cavernous malformations 3
MedGen UID:
355121
Concept ID:
C1864040
Disease or Syndrome
Cerebral cavernous malformations (CCMs) are vascular malformations in the brain and spinal cord comprising closely clustered, enlarged capillary channels (caverns) with a single layer of endothelium without mature vessel wall elements or normal intervening brain parenchyma. The diameter of CCMs ranges from a few millimeters to several centimeters. CCMs increase or decrease in size and increase in number over time. Hundreds of lesions may be identified, depending on the person’s age and the quality and type of brain imaging used. Although CCMs have been reported in infants and children, the majority become evident between the second and fifth decades with findings such as seizures, focal neurologic deficits, nonspecific headaches, and cerebral hemorrhage. Up to 50% of individuals with FCCM remain symptom free throughout their lives. Cutaneous vascular lesions are found in 9% of those with familial cerebral cavernous malformations (FCCM; see Diagnosis/testing) and retinal vascular lesions in almost 5%.
Cerebral cavernous malformations 2
MedGen UID:
400438
Concept ID:
C1864041
Disease or Syndrome
Cerebral cavernous malformations (CCMs) are vascular malformations in the brain and spinal cord comprising closely clustered, enlarged capillary channels (caverns) with a single layer of endothelium without mature vessel wall elements or normal intervening brain parenchyma. The diameter of CCMs ranges from a few millimeters to several centimeters. CCMs increase or decrease in size and increase in number over time. Hundreds of lesions may be identified, depending on the person’s age and the quality and type of brain imaging used. Although CCMs have been reported in infants and children, the majority become evident between the second and fifth decades with findings such as seizures, focal neurologic deficits, nonspecific headaches, and cerebral hemorrhage. Up to 50% of individuals with FCCM remain symptom free throughout their lives. Cutaneous vascular lesions are found in 9% of those with familial cerebral cavernous malformations (FCCM; see Diagnosis/testing) and retinal vascular lesions in almost 5%.
OBESITY, SUSCEPTIBILITY TO (allelic variant)
MedGen UID:
356231
Concept ID:
C1866432
Gene or Genome
Parietal foramina
MedGen UID:
358250
Concept ID:
C1868598
Congenital Abnormality
Enlarged parietal foramina are characteristic symmetric, paired radiolucencies of the parietal bones, located close to the intersection of the sagittal and lambdoid sutures, caused by deficient ossification around the parietal notch, which is normally obliterated by the fifth month of fetal development. Enlarged parietal foramina are usually asymptomatic. Meningeal, cortical, and vascular malformations of the posterior fossa occasionally accompany the bone defects and may predispose to epilepsy. In a minority of individuals, headaches, vomiting, or intense local pain are sometimes associated with the defects, especially on application of mild pressure to the unprotected cerebral cortex.
Craniodiaphyseal dysplasia, autosomal dominant
MedGen UID:
382678
Concept ID:
C2675746
Disease or Syndrome
Craniodiaphyseal dysplasia is a severe bone dysplasia characterized by massive generalized hyperostosis and sclerosis, especially involving the skull and facial bones. Progressive bony encroachment upon cranial foramina leads to severe neurologic impairment in childhood (summary by Brueton and Winter, 1990). The sclerosis is so severe that the resulting facial distortion is referred to as 'leontiasis ossea' (leonine facies), and the bone deposition results in progressive stenosis of craniofacial foramina (summary by Kim et al., 2011).
Amyloidogenic transthyretin amyloidosis
MedGen UID:
414031
Concept ID:
C2751492
Disease or Syndrome
Familial transthyretin (TTR) amyloidosis is characterized by a slowly progressive peripheral sensorimotor neuropathy and autonomic neuropathy as well as non-neuropathic changes of cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis. The disease usually begins in the third to fifth decade in persons from endemic foci in Portugal and Japan; onset is later in persons from other areas. Typically, sensory neuropathy starts in the lower extremities with paresthesias and hypesthesias of the feet, followed within a few years by motor neuropathy. In some persons, particularly those with early onset disease, autonomic neuropathy is the first manifestation of the condition; findings can include: orthostatic hypotension, constipation alternating with diarrhea, attacks of nausea and vomiting, delayed gastric emptying, sexual impotence, anhidrosis, and urinary retention or incontinence. Cardiac amyloidosis is mainly characterized by progressive cardiomyopathy. Individuals with leptomeningeal amyloidosis may have the following CNS findings: dementia, psychosis, visual impairment, headache, seizures, motor paresis, ataxia, myelopathy, hydrocephalus, or intracranial hemorrhage.
Rajab syndrome
MedGen UID:
462260
Concept ID:
C3150910
Disease or Syndrome
Hypomagnesemia 6, renal
MedGen UID:
462645
Concept ID:
C3151295
Disease or Syndrome
Deafness, nonsyndromic sensorineural, mitochondrial
MedGen UID:
463247
Concept ID:
C3151897
Disease or Syndrome
Mutations in mitochondrial DNA (mtDNA) have been found to be associated with nonsyndromic sensorineural hearing loss. Matrilineal relatives within and among families carrying certain pathogenic mitochondrial mutations exhibit a wide range of penetrance, severity, and age of onset of hearing loss, indicating that the mitochondrial mutations by themselves are not sufficient to produce a deafness phenotype. Modifier factors, such as nuclear and mitochondrial genes, or environmental factors, such as exposure to aminoglycosides, appear to modulate the phenotypic manifestations (summary by Tang et al., 2007).
Paroxysmal nocturnal hemoglobinuria 2
MedGen UID:
815699
Concept ID:
C3809369
Disease or Syndrome
Leukoencephalopathy with ataxia
MedGen UID:
816572
Concept ID:
C3810242
Disease or Syndrome
Leukoencephalopathy with ataxia is an autosomal recessive neurologic disorder with a characteristic pattern of white matter abnormalities on brain MRI. Affected individuals have prominent signal abnormalities and decreased apparent diffusion coefficient (ADC) values in the posterior limbs of the internal capsules, middle cerebral peduncles, pyramidal tracts in the pons, and middle cerebellar peduncles. The findings suggest myelin microvacuolation restricted to certain brain regions. Clinical features include ataxia and unstable gait; more variable abnormalities may include visual field defects, headaches, and learning disabilities (summary by Depienne et al., 2013).
PARKINSON DISEASE 6, MODIFIER OF
MedGen UID:
865035
Concept ID:
C4016598
Finding
Exercise intolerance, cardiomyopathy, and septooptic dysplasia
MedGen UID:
865036
Concept ID:
C4016599
Finding
Parkinsonism/MELAS overlap syndrome
MedGen UID:
865037
Concept ID:
C4016600
Finding
Sideroblastic anemia, acquired idiopathic
MedGen UID:
865038
Concept ID:
C4016601
Finding
CYTOCHROME c OXIDASE I DEFICIENCY
MedGen UID:
865039
Concept ID:
C4016602
Finding
Seizures and lactic acidosis
MedGen UID:
865040
Concept ID:
C4016603
Finding
Mitochondrial complex IV deficiency with recurrent myoglobinuria
MedGen UID:
866063
Concept ID:
C4017626
Finding
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2
MedGen UID:
895965
Concept ID:
C4225211
Disease or Syndrome
HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7
MedGen UID:
901850
Concept ID:
C4225294
Finding
Alternating hemiplegia of childhood 1
MedGen UID:
762361
Concept ID:
C3549447
Disease or Syndrome
Alternating hemiplegia of childhood is a rare syndrome of episodic hemi- or quadriplegia lasting minutes to days. Most cases are accompanied by dystonic posturing, choreoathetoid movements, nystagmus, other ocular motor abnormalities, autonomic disturbances, and progressive cognitive impairment (Mikati et al., 1992). The disorder may mimic or overlap with other disorders, including familial hemiplegic migraine (FHM1; 141500) and GLUT1 deficiency syndrome (606777) (Rotstein et al., 2009). Genetic Heterogeneity of Alternating Hemiplegia of Childhood See also AHC2 (614820), caused by mutation in the ATP1A3 gene (182350).

Recent clinical studies

Etiology

Bomyea J, Lang AJ, Delano-Wood L, Jak A, Hanson KL, Sorg S, Clark AL, Schiehser DM
Headache 2016 Apr;56(4):699-710. Epub 2016 Mar 29 doi: 10.1111/head.12799. PMID: 27028095
Kim DW, Sunwoo JS, Lee SK
Headache 2016 Apr;56(4):762-8. Epub 2016 Feb 19 doi: 10.1111/head.12754. PMID: 26893212
Lucas S, Smith BM, Temkin N, Bell KR, Dikmen S, Hoffman JM
Headache 2016 Feb;56(2):323-30. Epub 2016 Jan 27 doi: 10.1111/head.12762. PMID: 26814846
Law EF, Beals-Erickson SE, Noel M, Claar R, Palermo TM
Headache 2015 Nov-Dec;55(10):1410-25. Epub 2015 Aug 28 doi: 10.1111/head.12635. PMID: 26316194Free PMC Article
Baron EP
Headache 2015 May;55(5):739-47. Epub 2015 Apr 22 doi: 10.1111/head.12562. PMID: 25903747

Diagnosis

Wolff V, Ducros A
Headache 2016 Apr;56(4):674-87. Epub 2016 Mar 26 doi: 10.1111/head.12794. PMID: 27016378
Gan WQ, Estus S, Smith JH
Headache 2016 Mar;56(3):511-8. Epub 2016 Mar 1 doi: 10.1111/head.12778. PMID: 26926358
Kim DW, Sunwoo JS, Lee SK
Headache 2016 Apr;56(4):762-8. Epub 2016 Feb 19 doi: 10.1111/head.12754. PMID: 26893212
Lucas S, Smith BM, Temkin N, Bell KR, Dikmen S, Hoffman JM
Headache 2016 Feb;56(2):323-30. Epub 2016 Jan 27 doi: 10.1111/head.12762. PMID: 26814846
Baron EP
Headache 2015 Jun;55(6):885-916. Epub 2015 May 25 doi: 10.1111/head.12570. PMID: 26015168

Therapy

Gan WQ, Estus S, Smith JH
Headache 2016 Mar;56(3):511-8. Epub 2016 Mar 1 doi: 10.1111/head.12778. PMID: 26926358
Law EF, Beals-Erickson SE, Noel M, Claar R, Palermo TM
Headache 2015 Nov-Dec;55(10):1410-25. Epub 2015 Aug 28 doi: 10.1111/head.12635. PMID: 26316194Free PMC Article
Baron EP
Headache 2015 Jun;55(6):885-916. Epub 2015 May 25 doi: 10.1111/head.12570. PMID: 26015168
Rocha-Filho PA
Headache 2015 May;55(5):733-8. Epub 2015 Apr 22 doi: 10.1111/head.12563. PMID: 25903913
Baron EP
Headache 2015 May;55(5):739-47. Epub 2015 Apr 22 doi: 10.1111/head.12562. PMID: 25903747

Prognosis

Bomyea J, Lang AJ, Delano-Wood L, Jak A, Hanson KL, Sorg S, Clark AL, Schiehser DM
Headache 2016 Apr;56(4):699-710. Epub 2016 Mar 29 doi: 10.1111/head.12799. PMID: 27028095
Wolff V, Ducros A
Headache 2016 Apr;56(4):674-87. Epub 2016 Mar 26 doi: 10.1111/head.12794. PMID: 27016378
Kim DW, Sunwoo JS, Lee SK
Headache 2016 Apr;56(4):762-8. Epub 2016 Feb 19 doi: 10.1111/head.12754. PMID: 26893212
Law EF, Beals-Erickson SE, Noel M, Claar R, Palermo TM
Headache 2015 Nov-Dec;55(10):1410-25. Epub 2015 Aug 28 doi: 10.1111/head.12635. PMID: 26316194Free PMC Article
Baron EP
Headache 2015 May;55(5):739-47. Epub 2015 Apr 22 doi: 10.1111/head.12562. PMID: 25903747

Clinical prediction guides

Bomyea J, Lang AJ, Delano-Wood L, Jak A, Hanson KL, Sorg S, Clark AL, Schiehser DM
Headache 2016 Apr;56(4):699-710. Epub 2016 Mar 29 doi: 10.1111/head.12799. PMID: 27028095
Mainardi F, Maggioni F, Zanchin G
Headache 2016 Feb;56(2):389-91. Epub 2016 Feb 8 doi: 10.1111/head.12766. PMID: 26854270
Lucas S, Smith BM, Temkin N, Bell KR, Dikmen S, Hoffman JM
Headache 2016 Feb;56(2):323-30. Epub 2016 Jan 27 doi: 10.1111/head.12762. PMID: 26814846
Hong CK, Joo JY, Kim YB, Shim YS, Lim YC, Shin YS, Chung J
Headache 2015 Jul-Aug;55(7):992-9. Epub 2015 Jun 30 doi: 10.1111/head.12612. PMID: 26129830
Baron EP
Headache 2015 May;55(5):739-47. Epub 2015 Apr 22 doi: 10.1111/head.12562. PMID: 25903747

Recent systematic reviews

Ramsey RR, Ryan JL, Hershey AD, Powers SW, Aylward BS, Hommel KA
Headache 2014 May;54(5):795-816. Epub 2014 Apr 17 doi: 10.1111/head.12353. PMID: 24750017
Gini G, Pozzoli T, Lenzi M, Vieno A
Headache 2014 Jun;54(6):976-86. Epub 2014 Apr 2 doi: 10.1111/head.12344. PMID: 24697284
Chai NC, Scher AI, Moghekar A, Bond DS, Peterlin BL
Headache 2014 Feb;54(2):219-34. doi: 10.1111/head.12296. PMID: 24512574Free PMC Article
Baillie LE, Gabriele JM, Penzien DB
Headache 2014 Jan;54(1):40-53. Epub 2013 Aug 28 doi: 10.1111/head.12204. PMID: 23992549
Adams J, Barbery G, Lui CW
Headache 2013 Mar;53(3):459-73. Epub 2012 Oct 18 doi: 10.1111/j.1526-4610.2012.02271.x. PMID: 23078346

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