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neoplasm

MedGen UID:
10294
Concept ID:
C0027651
Neoplastic Process
Synonyms: Neoplasia; Neoplasm; Oncological abnormality; Oncology; Tumor; Tumour
SNOMED CT: Tumor (108369006); Neoplasm (108369006)
 
HPO: HP:0002664

Definition

A benign or malignant tissue growth resulting from uncontrolled cell proliferation. Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia. Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVneoplasm

Conditions with this feature

cushing syndrome
MedGen UID:
3681
Concept ID:
C0010481
Disease or Syndrome
Cushing's syndrome (CS) encompasses a group of hormonal disorders caused by prolonged and high exposure levels to glucocorticoids that can be of either endogenous (adrenal cortex production) or exogenous (iatrogenic) origin.
reticulum cell sarcoma
MedGen UID:
44224
Concept ID:
C0024302
Neoplastic Process
An antiquated term that refers to a non-Hodgkin lymphoma composed of diffuse infiltrates of large, often anaplastic lymphocytes.
extramammary paget disease
MedGen UID:
45280
Concept ID:
C0030186
Neoplastic Process
A malignant neoplasm in which there is infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli (Paget cells). It may affect the anus, penis, scrotum, and vulva.
pheochromocytoma
MedGen UID:
18419
Concept ID:
C0031511
Neoplastic Process
Hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes are characterized by paragangliomas (tumors that arise from neuroendocrine tissues distributed along the paravertebral axis from the base of the skull to the pelvis) and pheochromocytomas (paragangliomas that are confined to the adrenal medulla). Sympathetic paragangliomas cause catecholamine excess; parasympathetic paragangliomas are most often nonsecretory. Extra-adrenal parasympathetic paragangliomas are located predominantly in the skull base and neck (referred to as head and neck PGL [HNPGL]) and sometimes in the upper mediastinum; approximately 95% of such tumors are nonsecretory. In contrast, sympathetic extra-adrenal paragangliomas are generally confined to the lower mediastinum, abdomen, and pelvis, and are typically secretory. Pheochromocytomas, which arise from the adrenal medulla, typically lead to catecholamine excess. Symptoms of PGL/PCC result from either mass effects or catecholamine hypersecretion (e.g., sustained or paroxysmal elevations in blood pressure, headache, episodic profuse sweating, forceful palpitations, pallor, and apprehension or anxiety). The risk for developing metastatic disease is greater for extra-adrenal sympathetic paragangliomas than for pheochromocytomas.
kaposi sarcoma, susceptibility to
MedGen UID:
11321
Concept ID:
C0036220
Neoplastic Process
Kaposi sarcoma (KS) is an invasive angioproliferative inflammatory condition that occurs commonly in men infected with human immunodeficiency virus (HIV; see 609423). In the early stages of KS, lesions appear reactive and are stimulated to grow by the actions of inflammatory cytokines and growth factors. In the late stages of KS, a malignant phenotype that appears to be monoclonal can develop. Infection with human herpesvirus-8 (HHV-8), also known as KS-associated herpesvirus (KSHV), is necessary but not sufficient for KS development. Coinfection with HIV markedly increases the likelihood of KS development, and additional environmental, hormonal, and genetic cofactors likely contribute to its pathogenesis (summary by Foster et al., 2000). Suthaus et al. (2012) noted that HHV-8 is the etiologic agent not only of KS, but also of primary effusion lymphoma and plasma cell-type multicentric Castleman disease (MCD).
androgen resistance syndrome
MedGen UID:
21102
Concept ID:
C0039585
Disease or Syndrome
Androgen insensitivity syndrome (AIS) is typically characterized by evidence of feminization (i.e., undermasculinization) of the external genitalia at birth, abnormal secondary sexual development in puberty, and infertility in individuals with a 46,XY karyotype. AIS represents a spectrum of defects in androgen action and can be subdivided into three broad phenotypes: Complete androgen insensitivity syndrome (CAIS), with typical female external genitalia. Partial androgen insensitivity syndrome (PAIS) with predominantly female, predominantly male, or ambiguous external genitalia. Mild androgen insensitivity syndrome (MAIS) with typical male external genitalia.
x-linked ichthyosis with steryl-sulfatase deficiency
MedGen UID:
86937
Concept ID:
C0079588
Disease or Syndrome
X-linked ichthyosis is clinically characterized by widespread, dark brown, polygonal scales and generalized dryness. Cutaneous manifestations are present soon after birth and usually do not improve with age. The histopathology of XLI typically shows compact hyperkeratosis and slight acanthosis with a normal granular layer (summary by Takeichi and Akiyama, 2016). X-linked ichthyosis is fundamentally the same disorder as placental steroid sulfatase deficiency, which is often first noted in the pregnant mother of affected males by decreased estrogen or delayed progression of parturition (Alperin and Shapiro, 1997). This is thus an example of affinity ('lumping') of phenotypes thought previously to be separate, the opposite of genetic heterogeneity. Schnyder (1970) gave a useful classification of the inherited ichthyoses. Hernandez-Martin et al. (1999) provided a comprehensive review of X-linked ichthyosis. They pointed out that among all genetic disorders X-linked ichthyosis shows one of the highest ratios of chromosomal deletions; complete deletion has been found in up to 90% of patients. Takeichi and Akiyama (2016) reviewed inherited nonsyndromic forms of ichthyosis.
partial albinism
MedGen UID:
36361
Concept ID:
C0080024
Congenital Abnormality
Piebaldism is a rare autosomal dominant trait characterized by the congenital absence of melanocytes in affected areas of the skin and hair. A white forelock of hair, often triangular in shape, may be the only manifestation, or both the hair and the underlying forehead may be involved. The eyebrows and eyelashes may be affected. Irregularly shaped white patches may be observed on the face, trunk, and extremities, usually in a symmetrical distribution. Typically, islands of hyperpigmentation are present within and at the border of depigmented areas (summary by Thomas et al., 2004).
x-linked agammaglobulinemia
MedGen UID:
65123
Concept ID:
C0221026
Disease or Syndrome
X-linked agammaglobulinemia (XLA) is characterized by recurrent bacterial infections in affected males in the first two years of life. Recurrent otitis is the most common infection prior to diagnosis. Conjunctivitis, sinopulmonary infections, diarrhea, and skin infections are also frequently seen. Approximately 60% of individuals with XLA are recognized as having immunodeficiency when they develop a severe, life-threatening infection such as pneumonia, empyema, meningitis, sepsis, cellulitis, or septic arthritis. S pneumoniae and H influenzae are the most common organisms found prior to diagnosis and may continue to cause sinusitis and otitis after diagnosis and the initiation of gammaglobulin substitution therapy. Severe, difficult-to-treat enteroviral infections (often manifest as dermatomyositis or chronic meningoencephalitis) can be prevented by this treatment. The prognosis for individuals with XLA has improved markedly in the last 25 years as a result of earlier diagnosis, the development of preparations of gammaglobulin that allow normal concentrations of serum IgG to be achieved, and more liberal use of antibiotics.
xeroderma pigmentosum, complementation group b
MedGen UID:
78643
Concept ID:
C0268136
Disease or Syndrome
Xeroderma pigmentosum (XP) is characterized by: Sun sensitivity (severe sunburn with blistering, persistent erythema on minimal sun exposure in ~60% of affected individuals), with marked freckle-like pigmentation of the face before age two years in most affected individuals; Sunlight-induced ocular involvement (photophobia, keratitis, atrophy of the skin of the lids); Greatly increased risk of sunlight-induced cutaneous neoplasms (basal cell carcinoma, squamous cell carcinoma, melanoma). Approximately 25% of affected individuals have neurologic manifestations (acquired microcephaly, diminished or absent deep tendon stretch reflexes, progressive sensorineural hearing loss, and progressive cognitive impairment). The most common causes of death are skin cancer, neurologic degeneration, and internal cancer. The median age at death in persons with XP with neurodegeneration (29 years) was found to be younger than that in persons with XP without neurodegeneration (37 years).
adamantinoma of long bones
MedGen UID:
83163
Concept ID:
C0334556
Neoplastic Process
A rare, primary low-grade malignant bone tumor that occurs in more than 80% of cases on the anterior surface of the tibia (tibial dyaphysis). Most cases are symptomatic or present with pain, swelling, bowing deformity or pathological fracture. Metastases especially in the lungs may be observed.
keratoderma with scleroatrophy of the extremities
MedGen UID:
98360
Concept ID:
C0406767
Congenital Abnormality
Huriez syndrome (HRZ) is characterized by the triad of congenital scleroatrophy of the distal extremities, palmoplantar keratoderma, and hypoplastic nail changes. The development of aggressive squamous cell carcinoma (SCC) in areas of affected skin is a distinctive feature of the syndrome, occurring in approximately 15% of patients. HRZ-associated SCC shows early onset, mostly in the third to fourth decades of life, and early metastasis formation (summary by Lee et al., 2000). See also 610644 for description of a disorder resembling Huriez syndrome, involving palmoplantar hyperkeratosis and squamous cell carcinoma in association with SRY (480000)-negative female-to-male XX sex reversal, caused by mutation in the RSPO1 gene (609595).
multiple self-healing squamous epithelioma
MedGen UID:
154270
Concept ID:
C0546476
Neoplastic Process
Individuals with multiple self-healing squamous epithelioma (MSSE) develop multiple invasive skin tumors that undergo spontaneous regression leaving pitted scars. Age at onset is highly variable, ranging from 8 to 62 years. The disorder shows autosomal dominant inheritance, and most affected families have originated from western Scotland (Bose et al., 2006). MSSE has been considered to be a variety of multiple keratoacanthoma (Biskind et al., 1957; Haydey et al., 1980).
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).
hereditary diffuse gastric cancer
MedGen UID:
310839
Concept ID:
C1708349
Neoplastic Process
Hereditary diffuse gastric cancer (HDGC) is an autosomal dominant susceptibility for diffuse gastric cancer, a poorly differentiated adenocarcinoma that infiltrates into the stomach wall causing thickening of the wall (linitis plastica) without forming a distinct mass. Diffuse gastric cancer is also referred to as signet ring carcinoma or isolated cell-type carcinoma. The average age of onset of HDGC is 38 years (range: 14-69 years). The majority of the cancers in individuals with a CDH1 pathogenic variant occur before age 40 years. The estimated cumulative risk of gastric cancer by age 80 years is 70% for men and 56% for women. Women are also at a 42% risk for lobular breast cancer.
oslam syndrome
MedGen UID:
331588
Concept ID:
C1833792
Disease or Syndrome
Syndrome characterized by the association of osteosarcoma, limb anomalies (clinodactyly with brachymesophalangia, bilateral radioulnar synostosis and absence of one digital ray of the foot) and red cell macrocytosis without anemia. It has been described in three out of nine children from one family.
limb-girdle myasthenia, autoimmune
MedGen UID:
331795
Concept ID:
C1834635
Disease or Syndrome
palmoplantar keratoderma-esophageal carcinoma syndrome
MedGen UID:
324338
Concept ID:
C1835664
Neoplastic Process
Palmoplantar keratoderma (PPK) is a complex group of hereditary syndromes that have been classified into diffuse, punctate, and focal forms according to the pattern of hyperkeratosis on the palms and soles (Lucker et al., 1994). For a discussion of phenotypic and genetic heterogeneity of palmoplantar keratoderma, see epidermolytic PPK (144200).
disorder due cytochrome p450 cyp2d6 variant
MedGen UID:
323088
Concept ID:
C1837154
Disease or Syndrome
thymoma, familial
MedGen UID:
376447
Concept ID:
C1848814
Neoplastic Process
Thymomas are low-grade epithelial cancers of the thymus. Familial occurrence of thymoma is rare.
paragangliomas 3
MedGen UID:
340200
Concept ID:
C1854336
Disease or Syndrome
Hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes are characterized by paragangliomas (tumors that arise from neuroendocrine tissues distributed along the paravertebral axis from the base of the skull to the pelvis) and pheochromocytomas (paragangliomas that are confined to the adrenal medulla). Sympathetic paragangliomas cause catecholamine excess; parasympathetic paragangliomas are most often nonsecretory. Extra-adrenal parasympathetic paragangliomas are located predominantly in the skull base and neck (referred to as head and neck PGL [HNPGL]) and sometimes in the upper mediastinum; approximately 95% of such tumors are nonsecretory. In contrast, sympathetic extra-adrenal paragangliomas are generally confined to the lower mediastinum, abdomen, and pelvis, and are typically secretory. Pheochromocytomas, which arise from the adrenal medulla, typically lead to catecholamine excess. Symptoms of PGL/PCC result from either mass effects or catecholamine hypersecretion (e.g., sustained or paroxysmal elevations in blood pressure, headache, episodic profuse sweating, forceful palpitations, pallor, and apprehension or anxiety). The risk for developing metastatic disease is greater for extra-adrenal sympathetic paragangliomas than for pheochromocytomas.
acth-independent macronodular adrenal hyperplasia 1
MedGen UID:
347456
Concept ID:
C1857451
Disease or Syndrome
ACTH-independent macronodular adrenal hyperplasia (AIMAH) is an endogenous form of adrenal Cushing syndrome characterized by multiple bilateral adrenocortical nodules that cause a striking enlargement of the adrenal glands. Although some familial cases have been reported, the vast majority of AIMAH cases are sporadic. Patients typically present in the fifth and sixth decades of life, approximately 10 years later than most patients with other causes of Cushing syndrome (Swain et al., 1998; Christopoulos et al., 2005). Approximately 10 to 15% of adrenal Cushing syndrome is due to primary bilateral ACTH-independent adrenocortical pathology. The 2 main subtypes are AIMAH and primary pigmented nodular adrenocortical disease (PPNAD, see 610489), which is often a component of the Carney complex (160980) and associated with mutations in the PRKAR1A gene (188830) on chromosome 17q23-q24. AIMAH is rare, representing less than 1% of endogenous causes of Cushing syndrome (Swain et al., 1998; Christopoulos et al., 2005). See also ACTH-independent Cushing syndrome (615830) due to somatic mutation in the PRKACA gene (601639). Cushing 'disease' (219090) is an ACTH-dependent disorder caused in most cases by pituitary adenomas that secrete excessive ACTH. Genetic Heterogeneity of ACTH-Independent Macronodular Adrenal Hyperplasia AIMAH2 (615954) is caused by germline mutation of 1 allele of the ARMC5 gene (615549) coupled with a somatic mutation in the other allele.
brooke-spiegler syndrome
MedGen UID:
346703
Concept ID:
C1857941
Disease or Syndrome
CYLD cutaneous syndrome (CCS) typically manifests in the second or third decade with the appearance of multiple skin tumors including cylindromas, spiradenomas, trichoepitheliomas, and rarely, membranous basal cell adenoma of the salivary gland. The first tumor typically develops at puberty and tumors progressively accumulate through adulthood. Females often have more tumors than males. Tumors typically arise on the scalp and face but can also arise on the torso and sun-protected sites, such as the genital and axillary skin. A minority of individuals develop salivary gland tumors. Rarely, pulmonary cylindromas can develop in large airways and compromise breathing. Although the tumors are usually benign, malignant transformation is recognized.
chromosomal instability with tissue-specific radiosensitivity
MedGen UID:
347797
Concept ID:
C1859091
Cell or Molecular Dysfunction
choroidal osteoma, bilateral
MedGen UID:
396164
Concept ID:
C1861558
Disease or Syndrome
Choroidal osteoma is a benign tumor found in the peripapillary region, most characteristically in one eye of otherwise healthy, young females. Histopathologic changes include bone formation with trabeculae, blood-filled cavernous spaces, and cells typical of bone formation, i.e., osteoblasts, osteocytes, and osteoclasts.
cerebral sarcoma
MedGen UID:
350081
Concept ID:
C1861714
Neoplastic Process
paragangliomas 4
MedGen UID:
349380
Concept ID:
C1861848
Neoplastic Process
Hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes are characterized by paragangliomas (tumors that arise from neuroendocrine tissues distributed along the paravertebral axis from the base of the skull to the pelvis) and pheochromocytomas (paragangliomas that are confined to the adrenal medulla). Sympathetic paragangliomas cause catecholamine excess; parasympathetic paragangliomas are most often nonsecretory. Extra-adrenal parasympathetic paragangliomas are located predominantly in the skull base and neck (referred to as head and neck PGL [HNPGL]) and sometimes in the upper mediastinum; approximately 95% of such tumors are nonsecretory. In contrast, sympathetic extra-adrenal paragangliomas are generally confined to the lower mediastinum, abdomen, and pelvis, and are typically secretory. Pheochromocytomas, which arise from the adrenal medulla, typically lead to catecholamine excess. Symptoms of PGL/PCC result from either mass effects or catecholamine hypersecretion (e.g., sustained or paroxysmal elevations in blood pressure, headache, episodic profuse sweating, forceful palpitations, pallor, and apprehension or anxiety). The risk for developing metastatic disease is greater for extra-adrenal sympathetic paragangliomas than for pheochromocytomas.
cancer, familial, with in vitro radioresistance
MedGen UID:
396248
Concept ID:
C1861915
Neoplastic Process
premature aging syndrome, okamoto type
MedGen UID:
356468
Concept ID:
C1866183
Disease or Syndrome
paragangliomas 2
MedGen UID:
357076
Concept ID:
C1866552
Disease or Syndrome
Hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes are characterized by paragangliomas (tumors that arise from neuroendocrine tissues distributed along the paravertebral axis from the base of the skull to the pelvis) and pheochromocytomas (paragangliomas that are confined to the adrenal medulla). Sympathetic paragangliomas cause catecholamine excess; parasympathetic paragangliomas are most often nonsecretory. Extra-adrenal parasympathetic paragangliomas are located predominantly in the skull base and neck (referred to as head and neck PGL [HNPGL]) and sometimes in the upper mediastinum; approximately 95% of such tumors are nonsecretory. In contrast, sympathetic extra-adrenal paragangliomas are generally confined to the lower mediastinum, abdomen, and pelvis, and are typically secretory. Pheochromocytomas, which arise from the adrenal medulla, typically lead to catecholamine excess. Symptoms of PGL/PCC result from either mass effects or catecholamine hypersecretion (e.g., sustained or paroxysmal elevations in blood pressure, headache, episodic profuse sweating, forceful palpitations, pallor, and apprehension or anxiety). The risk for developing metastatic disease is greater for extra-adrenal sympathetic paragangliomas than for pheochromocytomas.
keratosis, familial actinic
MedGen UID:
390709
Concept ID:
C2675099
Disease or Syndrome
nasopharyngeal carcinoma 2
MedGen UID:
413336
Concept ID:
C2750548
Neoplastic Process
Nasopharyngeal carcinoma is a multifactorial malignancy associated with both genetic and environmental factors. The cancer arises from the epithelium of the nasopharynx (summary by Tse et al., 2009). For a general phenotypic description and a discussion of genetic heterogeneity of susceptibility to nasopharyngeal carcinoma, see NPCA1 (607107).
n syndrome
MedGen UID:
424834
Concept ID:
C2936859
Disease or Syndrome
Syndrome that is characterized by intellectual deficit, deafness, ocular anomalies, T-cell leukemia, cryptorchidism, hypospadias and spasticity. Mutations in DNA polymerase alpha, leading to increased chromosome breakage, may be responsible for the syndrome. X-linked recessive transmission has been proposed.
common variable immunodeficiency 2
MedGen UID:
461704
Concept ID:
C3150354
Disease or Syndrome
There are many different types of CVID that are distinguished by genetic cause. People with the same type of CVID may have varying signs and symptoms.\n\nPeople with CVID may start experiencing signs and symptoms of the disorder anytime between childhood and adulthood; most people with CVID are diagnosed in their twenties or thirties. The life expectancy of individuals with CVID varies depending on the severity and frequency of illnesses they experience. Most people with CVID live into adulthood.\n\nApproximately 25 percent of people with CVID have an autoimmune disorder, which occurs when the immune system malfunctions and attacks the body's tissues and organs. The blood cells are most frequently affected by autoimmune attacks in CVID; the most commonly occurring autoimmune disorders are immune thrombocytopenia, which is an abnormal bleeding disorder caused by a decrease in cells involved in blood clotting called platelets, and autoimmune hemolytic anemia, which results in premature destruction of red blood cells. Other autoimmune disorders such as rheumatoid arthritis can occur. Individuals with CVID also have a greater than normal risk of developing certain types of cancer, including a cancer of immune system cells called non-Hodgkin lymphoma and less frequently, stomach (gastric) cancer.\n\nCommon variable immune deficiency (CVID) is a disorder that impairs the immune system. People with CVID are highly susceptible to infection from foreign invaders such as bacteria, or more rarely, viruses and often develop recurrent infections, particularly in the lungs, sinuses, and ears. Pneumonia is common in people with CVID. Over time, recurrent infections can lead to chronic lung disease. Affected individuals may also experience infection or inflammation of the gastrointestinal tract, which can cause diarrhea and weight loss. Abnormal accumulation of immune cells causes enlarged lymph nodes (lymphadenopathy) or an enlarged spleen (splenomegaly) in some people with CVID. Immune cells can accumulate in other organs, forming small lumps called granulomas.
uv-sensitive syndrome 1
MedGen UID:
764087
Concept ID:
C3551173
Disease or Syndrome
UV-sensitive syndrome-1 is an autosomal recessive disorder characterized by cutaneous photosensitivity and mild freckling, without an increased risk of skin tumors. Patient cells show impaired recovery of RNA synthesis (RRS) after UV irradiation due to defective preferential repair of DNA damage in actively transcribing genes, although unscheduled DNA repair is normal. The cellular findings are consistent with a defect in transcription-coupled nucleotide excision repair (TC-NER) of UV damage (summary by Horibata et al., 2004). Genetic Heterogeneity of UV-Sensitive Syndrome See also UVSS2 (614621), caused by mutation in the ERCC8 gene (609412) on chromosome 5q12, and UVSS3 (614640), caused by mutation in the UVSSA gene (614632) on chromosome 4p16.
cancer of cervix
MedGen UID:
890252
Concept ID:
C4048328
Neoplastic Process
The cervix is the lower part of the uterus, the place where a baby grows during pregnancy. Cervical cancer is caused by a virus called HPV. The virus spreads through sexual contact. Most women's bodies are able to fight HPV infection. But sometimes the virus leads to cancer. You're at higher risk if you smoke, have had many children, use birth control pills for a long time, or have HIV infection. . Cervical cancer may not cause any symptoms at first. Later, you may have pelvic pain or bleeding from the vagina. It usually takes several years for normal cells in the cervix to turn into cancer cells. Your health care provider can find abnormal cells by doing a Pap test to examine cells from the cervix. You may also have an HPV test. If your results are abnormal, you may need a biopsy or other tests. By getting regular screenings, you can find and treat any problems before they turn into cancer. Treatment may include surgery, radiation therapy, chemotherapy, or a combination. The choice of treatment depends on the size of the tumor, whether the cancer has spread and whether you would like to become pregnant someday. Vaccines can protect against several types of HPV, including some that can cause cancer. NIH: National Cancer Institute.
trichothiodystrophy 2, photosensitive
MedGen UID:
905904
Concept ID:
C4225344
Disease or Syndrome
Trichothiodystrophy is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that displays a diagnostic alternating light and dark banding pattern, called 'tiger tail banding,' under polarizing microscopy. TTD patients display a wide variety of clinical features, including cutaneous, neurologic, and growth abnormalities. Common additional clinical features are ichthyosis, intellectual/developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections. There are both photosensitive and nonphotosensitive forms of the disorder. Patients with TTD have not been reported to have a predisposition to cancer (summary by Faghri et al., 2008). For a discussion of genetic heterogeneity of TTD, see 601675.
ehlers-danlos syndrome, periodontal type, 2
MedGen UID:
934648
Concept ID:
C4310681
Disease or Syndrome
Ehlers-Danlos syndrome is a group of disorders that affect connective tissues supporting the skin, bones, blood vessels, and many other organs and tissues. Defects in connective tissues cause the signs and symptoms of these conditions, which range from mildly loose joints to life-threatening complications.\n\nThe various forms of Ehlers-Danlos syndrome have been classified in several different ways. Originally, 11 forms of Ehlers-Danlos syndrome were named using Roman numerals to indicate the types (type I, type II, and so on). In 1997, researchers proposed a simpler classification (the Villefranche nomenclature) that reduced the number of types to six and gave them descriptive names based on their major features. In 2017, the classification was updated to include rare forms of Ehlers-Danlos syndrome that were identified more recently. The 2017 classification describes 13 types of Ehlers-Danlos syndrome.\n\nAn unusually large range of joint movement (hypermobility) occurs in most forms of Ehlers-Danlos syndrome, and it is a hallmark feature of the hypermobile type. Infants and children with hypermobility often have weak muscle tone (hypotonia), which can delay the development of motor skills such as sitting, standing, and walking. The loose joints are unstable and prone to dislocation and chronic pain. In the arthrochalasia type of Ehlers-Danlos syndrome, infants have hypermobility and dislocations of both hips at birth.\n\nMany people with the Ehlers-Danlos syndromes have soft, velvety skin that is highly stretchy (elastic) and fragile. Affected individuals tend to bruise easily, and some types of the condition also cause abnormal scarring. People with the classical form of Ehlers-Danlos syndrome experience wounds that split open with little bleeding and leave scars that widen over time to create characteristic "cigarette paper" scars. The dermatosparaxis type of the disorder is characterized by loose skin that sags and wrinkles, and extra (redundant) folds of skin may be present.\n\nBleeding problems are common in the vascular type of Ehlers-Danlos syndrome and are caused by unpredictable tearing (rupture) of blood vessels and organs. These complications can lead to easy bruising, internal bleeding, a hole in the wall of the intestine (intestinal perforation), or stroke. During pregnancy, women with vascular Ehlers-Danlos syndrome may experience rupture of the uterus. Additional forms of Ehlers-Danlos syndrome that involve rupture of the blood vessels include the kyphoscoliotic, classical, and classical-like types.\n\nOther types of Ehlers-Danlos syndrome have additional signs and symptoms. The cardiac-valvular type causes severe problems with the valves that control the movement of blood through the heart. People with the kyphoscoliotic type experience severe curvature of the spine that worsens over time and can interfere with breathing by restricting lung expansion. A type of Ehlers-Danlos syndrome called brittle cornea syndrome is characterized by thinness of the clear covering of the eye (the cornea) and other eye abnormalities. The spondylodysplastic type features short stature and skeletal abnormalities such as abnormally curved (bowed) limbs. Abnormalities of muscles, including hypotonia and permanently bent joints (contractures), are among the characteristic signs of the musculocontractural and myopathic forms of Ehlers-Danlos syndrome. The periodontal type causes abnormalities of the teeth and gums.
sotos syndrome 1
MedGen UID:
1634368
Concept ID:
C4551477
Disease or Syndrome
Sotos syndrome is characterized by a distinctive facial appearance (broad and prominent forehead with a dolichocephalic head shape, sparse frontotemporal hair, downslanting palpebral fissures, malar flushing, long and narrow face, long chin); learning disability (early developmental delay, mild-to-severe intellectual impairment); and overgrowth (height and/or head circumference =2 SD above the mean). These three clinical features are considered the cardinal features of Sotos syndrome. Major features of Sotos syndrome include behavioral problems (most notably autistic spectrum disorder), advanced bone age, cardiac anomalies, cranial MRI/CT abnormalities, joint hyperlaxity with or without pes planus, maternal preeclampsia, neonatal complications, renal anomalies, scoliosis, and seizures.
noonan syndrome 1
MedGen UID:
1638960
Concept ID:
C4551602
Disease or Syndrome
Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree. Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. Although birth length is usually normal, final adult height approaches the lower limit of normal. Congenital heart disease occurs in 50%-80% of individuals. Pulmonary valve stenosis, often with dysplasia, is the most common heart defect and is found in 20%-50% of individuals. Hypertrophic cardiomyopathy, found in 20%-30% of individuals, may be present at birth or develop in infancy or childhood. Other structural defects include atrial and ventricular septal defects, branch pulmonary artery stenosis, and tetralogy of Fallot. Up to one fourth of affected individuals have mild intellectual disability, and language impairments in general are more common in NS than in the general population.
rubinstein-taybi syndrome 1
MedGen UID:
1639327
Concept ID:
C4551859
Disease or Syndrome
Rubinstein-Taybi syndrome (RSTS) is characterized by distinctive facial features, broad and often angulated thumbs and halluces, short stature, and moderate-to-severe intellectual disability. The characteristic craniofacial features are downslanted palpebral fissures, low-hanging columella, high palate, grimacing smile, and talon cusps. Prenatal growth is often normal, then height, weight, and head circumference percentiles rapidly drop in the first few months of life. Short stature is typical in adulthood. Obesity may develop in childhood or adolescence. Average IQ ranges between 35 and 50; however, developmental outcome varies considerably. Some individuals with EP300-RSTS have normal intellect. Additional features include ocular abnormalities, hearing loss, respiratory difficulties, congenital heart defects, renal abnormalities, cryptorchidism, feeding problems, recurrent infections, and severe constipation.
hyperimmunoglobulin e recurrent infection syndrome, autosomal recessive
MedGen UID:
1648410
Concept ID:
C4722305
Disease or Syndrome
Autosomal dominant hyper-IgE recurrent infection syndrome-1 (HIES1; 147060) is a primary immunodeficiency disorder characterized by recurrent Staphylococcus aureus skin abscesses, increased serum IgE, and abnormalities of the connective tissue, skeleton, and dentition (Buckley et al., 1972; Grimbacher et al., 1999). Autosomal recessive HIES2 shares hyper-IgE, eosinophilia, and recurrent Staphylococcal infections, but is distinguished from autosomal dominant HIES1 by the lack of connective tissue and skeletal involvement (Renner et al., 2004). See also TYK2 deficiency (611521), a clinically distinct disease entity that includes characteristic features of both autosomal recessive HIES2 and mendelian susceptibility to mycobacterial disease (MSMD; 209950) (Minegishi et al., 2006). For a discussion of genetic heterogeneity of hyper-IgE recurrent infection syndrome, see 147060.
prostate cancer, hereditary, 1
MedGen UID:
1648436
Concept ID:
C4722327
Neoplastic Process
Some cancerous tumors can invade surrounding tissue and spread to other parts of the body. Tumors that begin at one site and then spread to other areas of the body are called metastatic cancers. The signs and symptoms of metastatic cancer depend on where the disease has spread. If prostate cancer spreads, cancerous cells most often appear in the lymph nodes, bones, lungs, liver, or brain. Bone metastases of prostate cancer most often cause pain in the lower back, pelvis, or hips.\n\nThe severity and outcome of prostate cancer varies widely. Early-stage prostate cancer can usually be treated successfully, and some older men have prostate tumors that grow so slowly that they may never cause health problems during their lifetime, even without treatment. In other men, however, the cancer is much more aggressive; in these cases, prostate cancer can be life-threatening.\n\nEarly prostate cancer usually does not cause pain, and most affected men exhibit no noticeable symptoms. Men are often diagnosed as the result of health screenings, such as a blood test for a substance called prostate specific antigen (PSA) or a medical procedure called a digital rectal exam. As the tumor grows larger, signs and symptoms can include difficulty starting or stopping the flow of urine, a feeling of not being able to empty the bladder completely, blood in the urine or semen, or pain with ejaculation. However, these changes can also occur with many other genitourinary conditions. Having one or more of these symptoms does not necessarily mean that a man has prostate cancer.\n\nA small percentage of all prostate cancers cluster in families. These hereditary cancers are associated with inherited gene mutations. Hereditary prostate cancers tend to develop earlier in life than non-inherited (sporadic) cases.\n\nProstate cancer is a common disease that affects men, usually in middle age or later. In this disorder, certain cells in the prostate become abnormal and multiply without control or order to form a tumor. The prostate is a gland that surrounds the male urethra and helps produce semen, the fluid that carries sperm.

Professional guidelines

PubMed

Cooley LD, Lebo M, Li MM, Slovak ML, Wolff DJ; Working Group of the American College of Medical Genetics and Genomics (ACMG) Laboratory Quality Assurance Committee.
Genet Med 2013 Jun;15(6):484-94. Epub 2013 Apr 25 doi: 10.1038/gim.2013.49. PMID: 23619274
Schrijver I, Aziz N, Farkas DH, Furtado M, Gonzalez AF, Greiner TC, Grody WW, Hambuch T, Kalman L, Kant JA, Klein RD, Leonard DG, Lubin IM, Mao R, Nagan N, Pratt VM, Sobel ME, Voelkerding KV, Gibson JS
J Mol Diagn 2012 Nov;14(6):525-40. Epub 2012 Aug 20 doi: 10.1016/j.jmoldx.2012.04.006. PMID: 22918138Free PMC Article

Recent clinical studies

Etiology

Salemi F, Mortazavizadeh SMR, Mirmoeeni S, Azari Jafari A, Kosari F, Naghibi Irvani SS
J Med Case Rep 2021 May 23;15(1):292. doi: 10.1186/s13256-021-02860-z. PMID: 34022952Free PMC Article
Tsumura A, Hirono S, Kawai M, Okada KI, Miyazawa M, Kitahata Y, Kobayashi R, Hayami S, Ueno M, Yanagisawa A, Yamaue H
Surgery 2021 Feb;169(2):388-395. Epub 2020 Aug 26 doi: 10.1016/j.surg.2020.07.005. PMID: 32859391
Lin C, Cai X, Yang W, Lv F, Nie L, Ji L
Front Endocrinol (Lausanne) 2020;11:541699. Epub 2020 Dec 23 doi: 10.3389/fendo.2020.541699. PMID: 33424764Free PMC Article
Lin C, Cai X, Yang W, Lv F, Nie L, Ji L
Endocrine 2020 Nov;70(2):232-242. Epub 2020 Jun 12 doi: 10.1007/s12020-020-02376-4. PMID: 32533507
Kim KH, Lee SH, Kim SI, Chung BH, Koo KC, Cho JS, Bang WJ, Park JY, Hong SJ
Urol J 2019 Dec 24;16(6):558-562. doi: 10.22037/uj.v0i0.4519. PMID: 30882164

Diagnosis

Lin WC, Tung YC, Chang YH, Luo SD, Chiang PL, Huang SC, Chen WC, Chou CK, Su YY, Chen WC, Chi SY, Baek JH
Int J Hyperthermia 2021;38(1):963-969. doi: 10.1080/02656736.2021.1912414. PMID: 34154505
Salemi F, Mortazavizadeh SMR, Mirmoeeni S, Azari Jafari A, Kosari F, Naghibi Irvani SS
J Med Case Rep 2021 May 23;15(1):292. doi: 10.1186/s13256-021-02860-z. PMID: 34022952Free PMC Article
Peng J, Lv S, Liu L, Feng S, Xing N
Arch Gynecol Obstet 2021 Mar;303(3):607-614. Epub 2021 Jan 4 doi: 10.1007/s00404-020-05927-2. PMID: 33394143Free PMC Article
Tsumura A, Hirono S, Kawai M, Okada KI, Miyazawa M, Kitahata Y, Kobayashi R, Hayami S, Ueno M, Yanagisawa A, Yamaue H
Surgery 2021 Feb;169(2):388-395. Epub 2020 Aug 26 doi: 10.1016/j.surg.2020.07.005. PMID: 32859391
Kim KH, Lee SH, Kim SI, Chung BH, Koo KC, Cho JS, Bang WJ, Park JY, Hong SJ
Urol J 2019 Dec 24;16(6):558-562. doi: 10.22037/uj.v0i0.4519. PMID: 30882164

Therapy

Lin C, Cai X, Yang W, Lv F, Nie L, Ji L
Front Endocrinol (Lausanne) 2020;11:541699. Epub 2020 Dec 23 doi: 10.3389/fendo.2020.541699. PMID: 33424764Free PMC Article
Lin C, Cai X, Yang W, Lv F, Nie L, Ji L
Endocrine 2020 Nov;70(2):232-242. Epub 2020 Jun 12 doi: 10.1007/s12020-020-02376-4. PMID: 32533507
Stewart DR, Best AF, Williams GM, Harney LA, Carr AG, Harris AK, Kratz CP, Dehner LP, Messinger YH, Rosenberg PS, Hill DA, Schultz KAP
J Clin Oncol 2019 Mar 10;37(8):668-676. Epub 2019 Feb 4 doi: 10.1200/JCO.2018.78.4678. PMID: 30715996Free PMC Article
Choi JH, Kim J
Nutr Cancer 2019;71(4):585-593. Epub 2019 Jan 20 doi: 10.1080/01635581.2018.1559935. PMID: 30663393
Kaur V, Swami A, Shebli A, Shalin S, Veeraputhiran M, Emanuel P, Jethava Y
J Oncol Pharm Pract 2017 Oct;23(7):552-556. Epub 2016 Aug 24 doi: 10.1177/1078155216665245. PMID: 27559020

Prognosis

Salemi F, Mortazavizadeh SMR, Mirmoeeni S, Azari Jafari A, Kosari F, Naghibi Irvani SS
J Med Case Rep 2021 May 23;15(1):292. doi: 10.1186/s13256-021-02860-z. PMID: 34022952Free PMC Article
Tsumura A, Hirono S, Kawai M, Okada KI, Miyazawa M, Kitahata Y, Kobayashi R, Hayami S, Ueno M, Yanagisawa A, Yamaue H
Surgery 2021 Feb;169(2):388-395. Epub 2020 Aug 26 doi: 10.1016/j.surg.2020.07.005. PMID: 32859391
Lin C, Cai X, Yang W, Lv F, Nie L, Ji L
Front Endocrinol (Lausanne) 2020;11:541699. Epub 2020 Dec 23 doi: 10.3389/fendo.2020.541699. PMID: 33424764Free PMC Article
Lin C, Cai X, Yang W, Lv F, Nie L, Ji L
Endocrine 2020 Nov;70(2):232-242. Epub 2020 Jun 12 doi: 10.1007/s12020-020-02376-4. PMID: 32533507
Kim KH, Lee SH, Kim SI, Chung BH, Koo KC, Cho JS, Bang WJ, Park JY, Hong SJ
Urol J 2019 Dec 24;16(6):558-562. doi: 10.22037/uj.v0i0.4519. PMID: 30882164

Clinical prediction guides

Tsumura A, Hirono S, Kawai M, Okada KI, Miyazawa M, Kitahata Y, Kobayashi R, Hayami S, Ueno M, Yanagisawa A, Yamaue H
Surgery 2021 Feb;169(2):388-395. Epub 2020 Aug 26 doi: 10.1016/j.surg.2020.07.005. PMID: 32859391
Lin C, Cai X, Yang W, Lv F, Nie L, Ji L
Front Endocrinol (Lausanne) 2020;11:541699. Epub 2020 Dec 23 doi: 10.3389/fendo.2020.541699. PMID: 33424764Free PMC Article
Lin C, Cai X, Yang W, Lv F, Nie L, Ji L
Endocrine 2020 Nov;70(2):232-242. Epub 2020 Jun 12 doi: 10.1007/s12020-020-02376-4. PMID: 32533507
Kim KH, Lee SH, Kim SI, Chung BH, Koo KC, Cho JS, Bang WJ, Park JY, Hong SJ
Urol J 2019 Dec 24;16(6):558-562. doi: 10.22037/uj.v0i0.4519. PMID: 30882164
Kim JY, Han SJ, Jung Y, Cho YS, Chung IK, Lee TH, Park SH, Cho HD, Kim SJ, Hwangbo Y
Scand J Gastroenterol 2018 Dec;53(12):1541-1546. Epub 2019 Jan 2 doi: 10.1080/00365521.2018.1547419. PMID: 30600737

Recent systematic reviews

Peng J, Lv S, Liu L, Feng S, Xing N
Arch Gynecol Obstet 2021 Mar;303(3):607-614. Epub 2021 Jan 4 doi: 10.1007/s00404-020-05927-2. PMID: 33394143Free PMC Article
Lin C, Cai X, Yang W, Lv F, Nie L, Ji L
Front Endocrinol (Lausanne) 2020;11:541699. Epub 2020 Dec 23 doi: 10.3389/fendo.2020.541699. PMID: 33424764Free PMC Article
Cho J, Kim J, Lee JS, Chee CG, Kim Y, Choi SI
Head Neck 2020 Oct;42(10):3041-3050. Epub 2020 Jul 16 doi: 10.1002/hed.26377. PMID: 32671867
Wang YZ, Lu J, Jiang BL, Guo JC
Pancreatology 2019 Sep;19(6):858-865. Epub 2019 Jul 27 doi: 10.1016/j.pan.2019.07.040. PMID: 31375434
Ruanpeng D, Cheungpasitporn W, Thongprayoon C, Hennessey JV, Shrestha RT
Endocr Pathol 2019 Sep;30(3):189-200. doi: 10.1007/s12022-019-09583-4. PMID: 31338752

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