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Juvenile myopathy, encephalopathy, lactic acidosis AND stroke(MELAS)

MedGen UID:
56485
Concept ID:
C0162671
Disease or Syndrome
Synonyms: MELAS; MELAS, MT-ND1-Related; MELAS, MT-ND5-Related; MELAS, MT-ND6-Related; MELAS, MT-TF-Related; MELAS, MT-TK-Related; MELAS, MT-TL1-Related; MELAS, MT-TQ-Related; MELAS, MT-TS1-Related; MELAS, MT-TS2-Related; Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes
Modes of inheritance:
Mitochondrial inheritance
MedGen UID:
165802
Concept ID:
C0887941
Genetic Function
The distribution of mitochondria, including the mitochondrial genome, into daughter cells after mitosis or meiosis, mediated by interactions between mitochondria and the cytoskeleton. [GOC:mcc, PMID:10873824, PMID:11389764]
not inherited
MedGen UID:
832438
Concept ID:
CN227390
Intellectual Product
Describes a disorder that is not inherited.
SNOMED CT: MELAS - Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (39925003); MELAS - Mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (39925003); Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (39925003); Juvenile myopathy, encephalopathy, lactic acidosis AND stroke (39925003); MELAS (39925003)
 
Genes (locations): MT-CO1; MT-CO2; MT-CO3; MT-CYB; MT-ND1; MT-ND5; MT-ND6; MT-TC; MT-TF; MT-TK; MT-TL1; MT-TQ; MT-TS1; MT-TS2; MT-TV; MT-TW
OMIM®: 540000
Orphanet: ORPHA550

Definition

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). [from OMIM]

Additional descriptions

From GeneReviews
MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes) is a multisystem disorder with onset typically in childhood. Early psychomotor development is usually normal, but short stature is common. Onset of symptoms is frequently between the ages of two and ten years. The most common initial symptoms are generalized tonic-clonic seizures, recurrent headaches, anorexia, and recurrent vomiting. Exercise intolerance or proximal limb weakness can be the initial manifestation. Seizures are often associated with stroke-like episodes of transient hemiparesis or cortical blindness. These stroke-like episodes may be associated with altered consciousness and may be recurrent. The cumulative residual effects of the stroke-like episodes gradually impair motor abilities, vision, and mentation, often by adolescence or young adulthood. Sensorineural hearing loss is common.  http://www.ncbi.nlm.nih.gov/books/NBK1233
From GHR
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is a condition that affects many of the body's systems, particularly the brain and nervous system (encephalo-) and muscles (myopathy). The signs and symptoms of this disorder most often appear in childhood following a period of normal development, although they can begin at any age. Early symptoms may include muscle weakness and pain, recurrent headaches, loss of appetite, vomiting, and seizures. Most affected individuals experience stroke-like episodes beginning before age 40. These episodes often involve temporary muscle weakness on one side of the body (hemiparesis), altered consciousness, vision abnormalities, seizures, and severe headaches resembling migraines. Repeated stroke-like episodes can progressively damage the brain, leading to vision loss, problems with movement, and a loss of intellectual function (dementia). Most people with MELAS have a buildup of lactic acid in their bodies, a condition called lactic acidosis. Increased acidity in the blood can lead to vomiting, abdominal pain, extreme tiredness (fatigue), muscle weakness, and difficulty breathing. Less commonly, people with MELAS may experience involuntary muscle spasms (myoclonus), impaired muscle coordination (ataxia), hearing loss, heart and kidney problems, diabetes, and hormonal imbalances.  http://ghr.nlm.nih.gov/condition/mitochondrial-encephalomyopathy-lactic-acidosis-and-stroke-like-episodes

Clinical features

Growth abnormality
MedGen UID:
808205
Concept ID:
C0262361
Finding
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
Decreased body weight
MedGen UID:
505609
Concept ID:
CN003826
Finding
Multiple lipomas
MedGen UID:
504685
Concept ID:
CN000948
Finding
The presence of multiple lipomas (a type of benign tissue made of fatty tissue).
Proteinuria
MedGen UID:
10976
Concept ID:
C0033687
Finding
abnormal presence of protein in urine
Abnormality of the genital system
MedGen UID:
155422
Concept ID:
C0744356
Finding
Renal insufficiency
MedGen UID:
427392
Concept ID:
CN000083
Finding
A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.
Abnormality of the renal tubule
MedGen UID:
424979
Concept ID:
CN000091
Finding
An abnormality of the renal tubules.
Nephrotic syndrome
MedGen UID:
504341
Concept ID:
CN000100
Finding
Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia.
Hypercalciuria
MedGen UID:
505127
Concept ID:
CN001948
Finding
Glomerulopathy
MedGen UID:
506545
Concept ID:
CN117710
Finding
Inflammatory or noninflammatory diseases affecting the glomeruli of the nephron.
Mask-like facies
MedGen UID:
140860
Concept ID:
C0424448
Finding
Premature loss of teeth
MedGen UID:
336740
Concept ID:
C1844635
Finding
Microcephaly
MedGen UID:
337454
Concept ID:
C1845868
Finding
Carious teeth
MedGen UID:
401327
Concept ID:
C1867882
Finding
Gingival overgrowth
MedGen UID:
504394
Concept ID:
CN000205
Finding
Hyperplasia of the gingiva (FMA:59762, that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown.
Hypertelorism
MedGen UID:
504419
Concept ID:
CN000296
Finding
Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).
Hemianopsia
MedGen UID:
9193
Concept ID:
C0018979
Finding
Partial or complete loss of vision in one half of the visual field(s) of one or both eyes. Subtypes include altitudinal hemianopsia, characterized by a visual defect above or below the horizontal meridian of the visual field. Homonymous hemianopsia refers to a visual defect that affects both eyes equally, and occurs either to the left or right of the midline of the visual field. Binasal hemianopsia consists of loss of vision in the nasal hemifields of both eyes. Bitemporal hemianopsia is the bilateral loss of vision in the temporal fields. Quadrantanopsia refers to loss of vision in one quarter of the visual field in one or both eyes.
Abnormality of vision evoked potentials
MedGen UID:
105509
Concept ID:
C0522214
Finding
Congenital cataract
MedGen UID:
330823
Concept ID:
C1842324
Finding
Abnormal retinal pigmentation
MedGen UID:
350681
Concept ID:
C1862475
Finding
Cataract
MedGen UID:
368085
Concept ID:
C1962983
Finding
Ophthalmoparesis
MedGen UID:
463310
Concept ID:
C3151960
Finding
Hypertelorism
MedGen UID:
504419
Concept ID:
CN000296
Finding
Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).
Ptosis
MedGen UID:
504471
Concept ID:
CN000475
Finding
The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
Ophthalmoplegia
MedGen UID:
504518
Concept ID:
CN000564
Finding
Paralysis of one or more extraocular muscles that are responsible for eye movements.
Optic atrophy
MedGen UID:
504537
Concept ID:
CN000609
Finding
Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.
Night blindness
MedGen UID:
504543
Concept ID:
CN000623
Finding
Inability to see well at night or in poor light.
Abnormality of the macula
MedGen UID:
446392
Concept ID:
CN001036
Finding
An abnormality of the macula lutea is an oval-shaped highly pigmented yellow spot near the center of the retina.
Visual field defect
MedGen UID:
504735
Concept ID:
CN001055
Finding
Amaurosis fugax
MedGen UID:
506487
Concept ID:
CN117469
Finding
A transient visual disturbance that is typically caused by a circulatory, ocular or neurological underlying condition.
Cortical visual impairment
MedGen UID:
501071
Concept ID:
CN117595
Finding
A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye.
Abnormality of the pinna
MedGen UID:
424987
Concept ID:
CN000352
Finding
An abnormality of the pinna, which is also referred to as the auricle or external ear.
Sensorineural hearing impairment
MedGen UID:
504436
Concept ID:
CN000380
Finding
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
Progressive sensorineural hearing impairment
MedGen UID:
500887
Concept ID:
CN000381
Finding
A progressive form of sensorineural hearing impairment.
Bilateral sensorineural hearing impairment
MedGen UID:
506239
Concept ID:
CN007584
Finding
A bilateral form of sensorineural hearing impairment.
EEG abnormality
MedGen UID:
56235
Concept ID:
C0151611
Finding
Cerebral calcification
MedGen UID:
124360
Concept ID:
C0270685
Finding
Developmental regression
MedGen UID:
324613
Concept ID:
C1836830
Disease or Syndrome
Microcephaly
MedGen UID:
337454
Concept ID:
C1845868
Finding
Stroke-like episodes
MedGen UID:
346558
Concept ID:
C1857287
Finding
Decreased nerve conduction velocity
MedGen UID:
346647
Concept ID:
C1857705
Finding
Incoordination
MedGen UID:
351047
Concept ID:
C1864113
Finding
Encephalopathy
MedGen UID:
368408
Concept ID:
C1963101
Finding
Memory impairment
MedGen UID:
368424
Concept ID:
C1963167
Finding
Hallucinations
MedGen UID:
776581
Concept ID:
C2364080
Finding
Tremor
MedGen UID:
776582
Concept ID:
C2364114
Finding
Autism
MedGen UID:
504569
Concept ID:
CN000674
Finding
Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV).
Dementia
MedGen UID:
504574
Concept ID:
CN000683
Finding
A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.
Anterior hypopituitarism
MedGen UID:
504614
Concept ID:
CN000776
Finding
A condition of reduced function of the pituitary gland characterized by decreased secretion of one or more of the pituitary hormones growth hormone, thyroid-stimulating hormone, adrenocorticotropic hormone, prolactin, luteinizing hormone, and follicle-stimulating hormone.
Hemiparesis
MedGen UID:
504778
Concept ID:
CN001163
Finding
Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength.
Reduced tendon reflexes
MedGen UID:
427865
Concept ID:
CN001205
Finding
Diminution of tendon reflexes, which is an invariable sign of peripheral nerve disease.
Generalized tonic-clonic seizures
MedGen UID:
505078
Concept ID:
CN001871
Finding
Generalized tonic-clonic seizures are generalized seizures with bilateral symmetrical tonic contraction then bilateral clonic contractions of somatic muscles usually associated with autonomic phenomena.
Migraine
MedGen UID:
505085
Concept ID:
CN001878
Finding
Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms.
Ventriculomegaly
MedGen UID:
505112
Concept ID:
CN001919
Finding
An increase in size of the ventricular system of the brain.
Cerebral cortical atrophy
MedGen UID:
505113
Concept ID:
CN001920
Finding
Atrophy of the cortex of the cerebrum.
Neurological speech impairment
MedGen UID:
446437
Concept ID:
CN001964
Finding
Abnormality of neuronal migration
MedGen UID:
505178
Concept ID:
CN002060
Finding
An abnormality resulting from an anomaly of neuronal migration, i.e., of the process by which neurons travel from their origin to their final position in the brain.
Cerebral ischemia
MedGen UID:
505309
Concept ID:
CN002398
Finding
Paresthesia
MedGen UID:
505532
Concept ID:
CN003069
Finding
Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause.
Involuntary movements
MedGen UID:
428446
Concept ID:
CN003806
Finding
Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face.
Reduced consciousness/confusion
MedGen UID:
446594
Concept ID:
CN003871
Finding
Hemiplegia/hemiparesis
MedGen UID:
446595
Concept ID:
CN003873
Finding
Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength.
Attention deficit hyperactivity disorder
MedGen UID:
506017
Concept ID:
CN006126
Finding
Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient.
Aplasia/Hypoplasia of the cerebellum
MedGen UID:
429099
Concept ID:
CN006441
Finding
Type I diabetes mellitus
MedGen UID:
334999
Concept ID:
C1844664
Finding
Primary adrenal insufficiency
MedGen UID:
337538
Concept ID:
C1846222
Finding
Hypoparathyroidism
MedGen UID:
344545
Concept ID:
C1855649
Finding
Hypothyroidism
MedGen UID:
413085
Concept ID:
C2750951
Finding
Diabetes mellitus
MedGen UID:
504609
Concept ID:
CN000766
Finding
A group of abnormalities characterized by hyperglycemia and glucose intolerance.
Anterior hypopituitarism
MedGen UID:
504614
Concept ID:
CN000776
Finding
A condition of reduced function of the pituitary gland characterized by decreased secretion of one or more of the pituitary hormones growth hormone, thyroid-stimulating hormone, adrenocorticotropic hormone, prolactin, luteinizing hormone, and follicle-stimulating hormone.
Hyperthyroidism
MedGen UID:
504619
Concept ID:
CN000782
Finding
An abnormality of thyroid physiology characterized by excessive secretion of the thyroid hormones thyroxine (i.e., T4) and/or 3,3',5-triiodo-L-thyronine zwitterion (i.e., triiodothyronine or T3).
Goiter
MedGen UID:
504628
Concept ID:
CN000799
Finding
An enlargement of the thyroid gland.
Type II diabetes mellitus
MedGen UID:
505874
Concept ID:
CN005268
Finding
A type of diabetes mellitus initially characterized by insulin resistance and hyperinsulinemia and subsequently by glucose interolerance and hyperglycemia.
Thyroiditis
MedGen UID:
506505
Concept ID:
CN117538
Finding
Inflammation of the thyroid gland.
Cerebral calcification
MedGen UID:
124360
Concept ID:
C0270685
Finding
Arthrogryposis multiplex congenita
MedGen UID:
375261
Concept ID:
C1843695
Finding
Microcephaly
MedGen UID:
337454
Concept ID:
C1845868
Finding
Delayed skeletal maturation
MedGen UID:
505344
Concept ID:
CN002495
Finding
A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
Episodic vomiting
MedGen UID:
333228
Concept ID:
C1838993
Finding
Constipation
MedGen UID:
368096
Concept ID:
C1963087
Finding
Malabsorption
MedGen UID:
368423
Concept ID:
C1963165
Finding
Pancreatitis
MedGen UID:
368432
Concept ID:
C1963198
Finding
Anorexia
MedGen UID:
743955
Concept ID:
C1971624
Disease or Syndrome
Feeding difficulties in infancy
MedGen UID:
436211
Concept ID:
C2674608
Finding
Abnormality of the liver
MedGen UID:
428258
Concept ID:
CN001274
Finding
An abnormality of the liver.
Nausea and vomiting
MedGen UID:
505054
Concept ID:
CN001825
Finding
Abdominal pain
MedGen UID:
505060
Concept ID:
CN001834
Finding
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.
Intestinal obstruction
MedGen UID:
505771
Concept ID:
CN004620
Finding
Blockage or impairment of the normal flow of the contents of the intestine towards the anal canal.
Hypopigmented skin patches
MedGen UID:
373164
Concept ID:
C1836735
Finding
Hypertrichosis
MedGen UID:
504680
Concept ID:
CN000934
Finding
Hypertrichosis is increased hair growth that is abnormal in quantity or location.
Spontaneous hematomas
MedGen UID:
506066
Concept ID:
CN006500
Finding
Spontaneous development of hematomas (hematoma) or bruises without significant trauma.
Ichthyosis
MedGen UID:
429191
Concept ID:
CN007091
Finding
An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization.
Hypertension
MedGen UID:
635666
Concept ID:
C0497247
Finding
A finding of increased blood pressure; not necessarily hypertensive disorder
Left ventricular hypertrophy
MedGen UID:
336835
Concept ID:
C1845018
Finding
Stroke-like episodes
MedGen UID:
346558
Concept ID:
C1857287
Finding
Wolff-Parkinson-White syndrome
MedGen UID:
409600
Concept ID:
C1963282
Finding
Sudden cardiac death
MedGen UID:
369872
Concept ID:
C1968862
Finding
Congestive heart failure
MedGen UID:
504881
Concept ID:
CN001488
Finding
The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.
Hypertrophic cardiomyopathy
MedGen UID:
504884
Concept ID:
CN001492
Finding
Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality.
Aortic dilatation
MedGen UID:
504933
Concept ID:
CN001568
Finding
Pulmonary hypertension
MedGen UID:
505097
Concept ID:
CN001893
Finding
Pulmonary hypertension is defined as a mean pulmonary artery pressure greater than 25 mm Hg during rest (normal level, 10 mm Hg) or greater than 30 mm Hg during exercise (normal level, 15 mm Hg), as determined with right heart catheterization.
Cerebral ischemia
MedGen UID:
505309
Concept ID:
CN002398
Finding
Aortic dissection
MedGen UID:
427921
Concept ID:
CN002407
Finding
Aortic dissection refers to a tear in the intimal layer of the aorta causing a separation between the intima and the medial layers of the aorta.
Spontaneous hematomas
MedGen UID:
506066
Concept ID:
CN006500
Finding
Spontaneous development of hematomas (hematoma) or bruises without significant trauma.
Spontaneous hematomas
MedGen UID:
506066
Concept ID:
CN006500
Finding
Spontaneous development of hematomas (hematoma) or bruises without significant trauma.
Proteinuria
MedGen UID:
10976
Concept ID:
C0033687
Finding
abnormal presence of protein in urine
Type I diabetes mellitus
MedGen UID:
334999
Concept ID:
C1844664
Finding
Lactic acidosis
MedGen UID:
344523
Concept ID:
C1855560
Finding
Diabetes mellitus
MedGen UID:
504609
Concept ID:
CN000766
Finding
A group of abnormalities characterized by hyperglycemia and glucose intolerance.
Hypercalciuria
MedGen UID:
505127
Concept ID:
CN001948
Finding
Abnormality of mitochondrial metabolism
MedGen UID:
446482
Concept ID:
CN002968
Finding
A functional anomaly of mitochondria.
Abnormality of temperature regulation
MedGen UID:
425258
Concept ID:
CN003869
Finding
An abnormality of temperature homeostasis.
Type II diabetes mellitus
MedGen UID:
505874
Concept ID:
CN005268
Finding
A type of diabetes mellitus initially characterized by insulin resistance and hyperinsulinemia and subsequently by glucose interolerance and hyperglycemia.
Apnea
MedGen UID:
2009
Concept ID:
C0003578
Pathologic Function
A disorder characterized by cessation of breathing.
Respiratory insufficiency
MedGen UID:
155440
Concept ID:
C0748358
Finding
Pulmonary hypertension
MedGen UID:
505097
Concept ID:
CN001893
Finding
Pulmonary hypertension is defined as a mean pulmonary artery pressure greater than 25 mm Hg during rest (normal level, 10 mm Hg) or greater than 30 mm Hg during exercise (normal level, 15 mm Hg), as determined with right heart catheterization.
Pulmonary embolism
MedGen UID:
505155
Concept ID:
CN001998
Finding
Abnormality of immune system physiology
MedGen UID:
451258
Concept ID:
CN116711
Finding
A functional abnormality of the immune system.
Muscle weakness
MedGen UID:
57735
Concept ID:
C0151786
Finding
A vague complaint of debility, fatigue, or exhaustion attributable to weakness of various muscles. The weakness can be characterized as subacute or chronic, often progressive, and is a manifestation of many muscle and neuromuscular diseases. (From Wyngaarden et al., Cecil Textbook of Medicine, 19th ed, p2251)
EMG abnormality
MedGen UID:
99199
Concept ID:
C0476403
Finding
Arthrogryposis multiplex congenita
MedGen UID:
375261
Concept ID:
C1843695
Finding
Myalgia
MedGen UID:
368426
Concept ID:
C1963177
Finding
Ragged-red muscle fibers
MedGen UID:
477048
Concept ID:
C3275417
Finding
Ophthalmoplegia
MedGen UID:
504518
Concept ID:
CN000564
Finding
Paralysis of one or more extraocular muscles that are responsible for eye movements.
Muscular hypotonia
MedGen UID:
504768
Concept ID:
CN001147
Finding
Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching.
Myopathy
MedGen UID:
505479
Concept ID:
CN002886
Finding
A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.
Skeletal muscle atrophy
MedGen UID:
505481
Concept ID:
CN002890
Finding
The presence of skeletal muscular atrophy (which is also known as amyotrophy).
Mitochondrial myopathy
MedGen UID:
505582
Concept ID:
CN003376
Finding
A type of myopathy associated with mitochondrial disease and characterized by findings on biopsy such as ragged red muscle fibers.
Arthrogryposis multiplex congenita
MedGen UID:
375261
Concept ID:
C1843695
Finding
Multiple lipomas
MedGen UID:
504685
Concept ID:
CN000948
Finding
The presence of multiple lipomas (a type of benign tissue made of fatty tissue).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews
  • CROGJuvenile myopathy, encephalopathy, lactic acidosis AND stroke

Professional guidelines

PubMed

Authors/Task Force members, Elliott PM, Anastasakis A, Borger MA, Borggrefe M, Cecchi F, Charron P, Hagege AA, Lafont A, Limongelli G, Mahrholdt H, McKenna WJ, Mogensen J, Nihoyannopoulos P, Nistri S, Pieper PG, Pieske B, Rapezzi C, Rutten FH, Tillmanns C, Watkins H
Eur Heart J 2014 Oct 14;35(39):2733-79. Epub 2014 Aug 29 doi: 10.1093/eurheartj/ehu284. [Epub ahead of print] PMID: 25173338

Recent clinical studies

Etiology

Brisca G, Fiorillo C, Nesti C, Trucco F, Derchi M, Andaloro A, Assereto S, Morcaldi G, Pedemonte M, Minetti C, Santorelli FM, Bruno C
Biochem Biophys Res Commun 2015 Mar 13;458(3):601-4. Epub 2015 Feb 11 doi: 10.1016/j.bbrc.2015.01.157. [Epub ahead of print] PMID: 25680467
Potestio CP, Check JH, Mitchell-Williams J
Clin Exp Obstet Gynecol 2014;41(3):343-5. PMID: 24992791
Weiduschat N, Kaufmann P, Mao X, Engelstad KM, Hinton V, DiMauro S, De Vivo D, Shungu D
Neurology 2014 Mar 4;82(9):798-805. Epub 2014 Jan 29 doi: 10.1212/WNL.0000000000000169. [Epub ahead of print] PMID: 24477106Free PMC Article
Cohen BH
Neurotherapeutics 2013 Apr;10(2):227-42. doi: 10.1007/s13311-013-0188-3. PMID: 23549648Free PMC Article
Yatsuga S, Povalko N, Nishioka J, Katayama K, Kakimoto N, Matsuishi T, Kakuma T, Koga Y; Taro Matsuoka for MELAS Study Group in Japan
Biochim Biophys Acta 2012 May;1820(5):619-24. Epub 2011 Apr 2 doi: 10.1016/j.bbagen.2011.03.015. [Epub ahead of print] PMID: 21443929

Diagnosis

Dindyal S, Mistry K, Angamuthu N, Smith G, Hilton D, Arumugam P, Mathew J
Ann R Coll Surg Engl 2014 Jan;96(1):101E-103E. doi: 10.1308/003588414X13824511649733. PMID: 24417855
Cheldi A, Ronchi D, Bordoni A, Bordo B, Lanfranconi S, Bellotti MG, Corti S, Lucchini V, Sciacco M, Moggio M, Baron P, Comi GP, Colombo A, Bersano A; Lombardia GENS collaborators
BMC Neurol 2013 Jan 15;13:8. doi: 10.1186/1471-2377-13-8. [Epub ahead of print] PMID: 23324391Free PMC Article
Seidowsky A, Hoffmann M, Glowacki F, Dhaenens CM, Devaux JP, de Sainte Foy CL, Provot F, Gheerbrant JD, Hummel A, Hazzan M, Dracon M, Dieux-Coeslier A, Copin MC, Noël C, Buob D
Clin Nephrol 2013 Dec;80(6):456-63. doi: 10.5414/CN107063. PMID: 22909780
Yatsuga S, Povalko N, Nishioka J, Katayama K, Kakimoto N, Matsuishi T, Kakuma T, Koga Y; Taro Matsuoka for MELAS Study Group in Japan
Biochim Biophys Acta 2012 May;1820(5):619-24. Epub 2011 Apr 2 doi: 10.1016/j.bbagen.2011.03.015. [Epub ahead of print] PMID: 21443929
Hsu YC, Yang FC, Perng CL, Tso AC, Wong LJ, Hsu CH
J Emerg Med 2012 Sep;43(3):e163-6. Epub 2009 Dec 29 doi: 10.1016/j.jemermed.2009.10.021. [Epub ahead of print] PMID: 20036095

Therapy

Potestio CP, Check JH, Mitchell-Williams J
Clin Exp Obstet Gynecol 2014;41(3):343-5. PMID: 24992791
El-Hattab AW, Emrick LT, Chanprasert S, Craigen WJ, Scaglia F
Int J Biochem Cell Biol 2014 Mar;48:85-91. Epub 2014 Jan 8 doi: 10.1016/j.biocel.2013.12.009. [Epub ahead of print] PMID: 24412347
El-Hattab AW, Hsu JW, Emrick LT, Wong LJ, Craigen WJ, Jahoor F, Scaglia F
Mol Genet Metab 2012 Apr;105(4):607-14. Epub 2012 Jan 24 doi: 10.1016/j.ymgme.2012.01.016. [Epub ahead of print] PMID: 22325939Free PMC Article
Yatsuga S, Povalko N, Nishioka J, Katayama K, Kakimoto N, Matsuishi T, Kakuma T, Koga Y; Taro Matsuoka for MELAS Study Group in Japan
Biochim Biophys Acta 2012 May;1820(5):619-24. Epub 2011 Apr 2 doi: 10.1016/j.bbagen.2011.03.015. [Epub ahead of print] PMID: 21443929
Hsu YC, Yang FC, Perng CL, Tso AC, Wong LJ, Hsu CH
J Emerg Med 2012 Sep;43(3):e163-6. Epub 2009 Dec 29 doi: 10.1016/j.jemermed.2009.10.021. [Epub ahead of print] PMID: 20036095

Prognosis

Dindyal S, Mistry K, Angamuthu N, Smith G, Hilton D, Arumugam P, Mathew J
Ann R Coll Surg Engl 2014 Jan;96(1):101E-103E. doi: 10.1308/003588414X13824511649733. PMID: 24417855
Lin J, Zhao CB, Lu JH, Wang HJ, Zhu WH, Xi JY, Lu J, Luo SS, Ma D, Wang Y, Xiao BG, Lu CZ
Mitochondrial DNA 2014 Feb;25(1):56-62. Epub 2013 Jul 8 doi: 10.3109/19401736.2013.779259. [Epub ahead of print] PMID: 23834081
El-Hattab AW, Hsu JW, Emrick LT, Wong LJ, Craigen WJ, Jahoor F, Scaglia F
Mol Genet Metab 2012 Apr;105(4):607-14. Epub 2012 Jan 24 doi: 10.1016/j.ymgme.2012.01.016. [Epub ahead of print] PMID: 22325939Free PMC Article
Yatsuga S, Povalko N, Nishioka J, Katayama K, Kakimoto N, Matsuishi T, Kakuma T, Koga Y; Taro Matsuoka for MELAS Study Group in Japan
Biochim Biophys Acta 2012 May;1820(5):619-24. Epub 2011 Apr 2 doi: 10.1016/j.bbagen.2011.03.015. [Epub ahead of print] PMID: 21443929
Santa KM
Pharmacotherapy 2010 Nov;30(11):1179-96. doi: 10.1592/phco.30.11.1179. PMID: 20973690

Clinical prediction guides

Lin J, Zhao CB, Lu JH, Wang HJ, Zhu WH, Xi JY, Lu J, Luo SS, Ma D, Wang Y, Xiao BG, Lu CZ
Mitochondrial DNA 2014 Feb;25(1):56-62. Epub 2013 Jul 8 doi: 10.3109/19401736.2013.779259. [Epub ahead of print] PMID: 23834081
Piccoli GB, Bonino LD, Campisi P, Vigotti FN, Ferraresi M, Fassio F, Brocheriou I, Porpiglia F, Restagno G
BMC Nephrol 2012 Feb 21;13:9. doi: 10.1186/1471-2369-13-9. [Epub ahead of print] PMID: 22353239Free PMC Article
El-Hattab AW, Hsu JW, Emrick LT, Wong LJ, Craigen WJ, Jahoor F, Scaglia F
Mol Genet Metab 2012 Apr;105(4):607-14. Epub 2012 Jan 24 doi: 10.1016/j.ymgme.2012.01.016. [Epub ahead of print] PMID: 22325939Free PMC Article
Yatsuga S, Povalko N, Nishioka J, Katayama K, Kakimoto N, Matsuishi T, Kakuma T, Koga Y; Taro Matsuoka for MELAS Study Group in Japan
Biochim Biophys Acta 2012 May;1820(5):619-24. Epub 2011 Apr 2 doi: 10.1016/j.bbagen.2011.03.015. [Epub ahead of print] PMID: 21443929
Finsterer J, Barton P
Epileptic Disord 2010 Dec;12(4):330-4. Epub 2010 Nov 9 doi: 10.1684/epd.2010.0338. [Epub ahead of print] PMID: 21059492

Recent systematic reviews

Nanau RM, Neuman MG
Clin Biochem 2013 Oct;46(15):1323-38. Epub 2013 Jun 20 doi: 10.1016/j.clinbiochem.2013.06.012. [Epub ahead of print] PMID: 23792104
Anglin RE, Garside SL, Tarnopolsky MA, Mazurek MF, Rosebush PI
J Clin Psychiatry 2012 Apr;73(4):506-12. doi: 10.4088/JCP.11r07237. PMID: 22579150
Finsterer J
Clin Neurol Neurosurg 2009 Oct;111(8):655-8. Epub 2009 Aug 6 doi: 10.1016/j.clineuro.2009.07.010. [Epub ahead of print] PMID: 19664878
Kazuno AA, Munakata K, Mori K, Tanaka M, Nanko S, Kunugi H, Umekage T, Tochigi M, Kohda K, Sasaki T, Akiyama T, Washizuka S, Kato N, Kato T
Psychiatry Clin Neurosci 2005 Aug;59(4):497-503. doi: 10.1111/j.1440-1819.2005.01404.x. PMID: 16048457
Sinnathuray AR, Raut V, Awa A, Magee A, Toner JG
Otol Neurotol 2003 May;24(3):418-26. PMID: 12806294

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