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1.

Pheochromocytoma

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. [from GeneReviews]

MedGen UID:
18419
Concept ID:
C0031511
Neoplastic Process
2.

Androgen resistance 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. [from GeneReviews]

MedGen UID:
21102
Concept ID:
C0039585
Disease or Syndrome
3.

Rubinstein-Taybi syndrome due to CREBBP mutations

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. [from GeneReviews]

MedGen UID:
1639327
Concept ID:
C4551859
Disease or Syndrome
4.

Disorder due cytochrome p450 CYP2D6 variant

MedGen UID:
323088
Concept ID:
C1837154
Disease or Syndrome
5.

Paragangliomas 2

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. [from GeneReviews]

MedGen UID:
357076
Concept ID:
C1866552
Disease or Syndrome
6.

Piebaldism

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). [from OMIM]

MedGen UID:
36361
Concept ID:
C0080024
Congenital Abnormality
7.

Cervical cancer

A tumor of the uterine cervix. [from HPO]

MedGen UID:
890252
Concept ID:
C4048328
Neoplastic Process
8.

Xeroderma pigmentosum group B

Xeroderma pigmentosum (XP) is characterized by: Acute sun sensitivity (severe sunburn with blistering, persistent erythema on minimal sun exposure) with marked freckle-like pigmentation of the face before age two years; Sunlight-induced ocular involvement (photophobia, severe keratitis, atrophy of the skin of the lids, ocular surface neoplasms); Greatly increased risk of sunlight-induced cutaneous neoplasms (basal cell carcinoma, squamous cell carcinoma, melanoma) within the first decade of life. Approximately 25% of affected individuals have neurologic manifestations (acquired microcephaly, diminished or absent deep tendon stretch reflexes, progressive sensorineural hearing loss, progressive cognitive impairment, and ataxia). 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). [from GeneReviews]

MedGen UID:
78643
Concept ID:
C0268136
Disease or Syndrome
9.

Multiple self-healing squamous epithelioma

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). [from OMIM]

MedGen UID:
154270
Concept ID:
C0546476
Neoplastic Process
10.

Brooke-Spiegler 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. [from GeneReviews]

MedGen UID:
346703
Concept ID:
C1857941
Disease or Syndrome
11.

Immunodeficiency, common variable, 2

MedGen UID:
461704
Concept ID:
C3150354
Disease or Syndrome
12.

UV-sensitive syndrome 1

UV-sensitive syndrome-1 (UVSS1) 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. [from OMIM]

MedGen UID:
764087
Concept ID:
C3551173
Disease or Syndrome
13.

Nasopharyngeal carcinoma, susceptibility to, 2

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). [from OMIM]

MedGen UID:
413336
Concept ID:
C2750548
Neoplastic Process
14.

Thymoma, familial

Thymomas are low-grade epithelial cancers of the thymus. Familial occurrence of thymoma is rare. [from OMIM]

MedGen UID:
376447
Concept ID:
C1848814
Neoplastic Process
15.

Myasthenia, limb-girdle, autoimmune

MedGen UID:
331795
Concept ID:
C1834635
Disease or Syndrome
16.

N 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. [from SNOMEDCT_US]

MedGen UID:
424834
Concept ID:
C2936859
Disease or Syndrome
17.

Adamantinoma

A primary low-grade, malignant bone tumor that is predominantly located in the mid-portion of the tibia. Histologically, classic adamantinoma is a biphasic tumor characterized by epithelial and osteofibrous components that may be intermingled with each other in various proportions and differentiating patterns. [from HPO]

MedGen UID:
83163
Concept ID:
C0334556
Neoplastic Process
18.

Cancer, familial, with in vitro Radioresistance

MedGen UID:
396248
Concept ID:
C1861915
Neoplastic Process
19.

OSLAM 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. [from SNOMEDCT_US]

MedGen UID:
331588
Concept ID:
C1833792
Disease or Syndrome
20.

Extramammary Paget disease

A rare skin tumor characterized by predominantly intraepithelial growth of an adenocarcinoma which may either arise primarily in the skin (primary extramammary Paget disease) or result from intraepithelial spread of a visceral carcinoma (secondary extramammary Paget disease). The lesion is typically located in the anogenital region, presenting as a scaly, oozing, pruritic or painful erythematous plaque often resembling eczema. It may exhibit an invasive component with a significant risk of lymph node metastasis. [from ORDO]

MedGen UID:
45280
Concept ID:
C0030186
Neoplastic Process
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