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Items: 9

1.

Ectopia lentis

Dislocation or malposition of the crystalline lens of the eye. A partial displacement (or dislocation) of the lens is described as a subluxation of the lens, while a complete displacement is termed luxation of the lens. A complete displacement occurs if the lens is completely outside the patellar fossa of the lens, either in the anterior chamber, in the vitreous, or directly on the retina. If the lens is partially displaced but still contained within the lens space, then it is termed subluxation. [from HPO]

MedGen UID:
504717
Concept ID:
CN001016
Finding
2.

Marfan syndrome

Marfan syndrome is a systemic disorder of connective tissue with a high degree of clinical variability. Cardinal manifestations involve the ocular, skeletal, and cardiovascular systems. FBN1 pathogenic variants associate with a broad phenotypic continuum, ranging from isolated features of Marfan syndrome to neonatal presentation of severe and rapidly progressive disease in multiple organ systems. Myopia is the most common ocular feature; displacement of the lens from the center of the pupil, seen in approximately 60% of affected individuals, is a hallmark feature. People with Marfan syndrome are at increased risk for retinal detachment, glaucoma, and early cataract formation. The skeletal system involvement is characterized by bone overgrowth and joint laxity. The extremities are disproportionately long for the size of the trunk (dolichostenomelia). Overgrowth of the ribs can push the sternum in (pectus excavatum) or out (pectus carinatum). Scoliosis is common and can be mild or severe and progressive. The major sources of morbidity and early mortality in the Marfan syndrome relate to the cardiovascular system. Cardiovascular manifestations include dilatation of the aorta at the level of the sinuses of Valsalva, a predisposition for aortic tear and rupture, mitral valve prolapse with or without regurgitation, tricuspid valve prolapse, and enlargement of the proximal pulmonary artery. With proper management, the life expectancy of someone with Marfan syndrome approximates that of the general population. [from GeneReviews]

MedGen UID:
44287
Concept ID:
C0024796
Disease or Syndrome
3.

Autosomal dominant inheritance

Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous). [from NCI]

MedGen UID:
141047
Concept ID:
C0443147
Genetic Function; Intellectual Product
4.

Papillary thyroid carcinoma

Nonmedullary thyroid cancer (NMTC) comprises thyroid cancers of follicular cell origin and accounts for more than 95% of all thyroid cancer cases. The remaining cancers originate from parafollicular cells (medullary thyroid cancer, MTC; 155240). NMTC is classified into 4 groups: papillary, follicular (188470), Hurthle cell (607464), and anaplastic. Approximately 5% of NMTC is hereditary, occurring as a component of a familial cancer syndrome (e.g., familial adenomatous polyposis, 175100; Carney complex, 160980) or as a primary feature (familial NMTC or FNMTC). Papillary thyroid cancer (PTC) is the most common histologic subtype of FNMTC, accounting for approximately 85% of cases (summary by Vriens et al., 2009). PTC is characterized by distinctive nuclear alterations including pseudoinclusions, grooves, and chromatin clearing. PTCs smaller than 1 cm are referred to as papillary microcarcinomas. These tumors have been identified in up to 35% of individuals at autopsy, suggesting that they may be extremely common although rarely clinically relevant. PTC can also be multifocal but is typically slow-growing with a tendency to spread to lymph nodes and usually has an excellent prognosis (summary by Bonora et al., 2010). Genetic Heterogeneity of Susceptibility to Nonmedullary Thyroid Cancer NMTC2 (188470) is caused by mutation in the SRGAP1 gene (606523). NMTC3 (606240) represents a susceptibility locus mapped to chromosome 2q21. NMTC4 (616534) is caused by mutation in the FOXE1 gene (602617). NMTC5 (616535) is caused by mutation in the HABP2 gene (603924). A susceptibility gene for familial nonmedullary thyroid carcinoma with or without cell oxyphilia (TCO; 603386) has been mapped to chromosome 19p. [from OMIM]

MedGen UID:
66773
Concept ID:
C0238463
Neoplastic Process
5.

Abnormality of the lens

An abnormality of the lens. [from HPO]

MedGen UID:
44102
Concept ID:
C0023308
Disease or Syndrome
6.

Lens subluxation

Partial dislocation of the lens of the eye. [from HPO]

MedGen UID:
9718
Concept ID:
C0023316
Disease or Syndrome
7.

Congenital anomaly of eye

Congenital absence of or defects in structures of the eye; may also be hereditary. [from MeSH]

MedGen UID:
4623
Concept ID:
C0015393
Congenital Abnormality; Disease or Syndrome
8.

Lens subluxation

Partial dislocation of the lens of the eye. [from HPO]

MedGen UID:
504739
Concept ID:
CN001064
Finding
9.

Marfan syndrome, autosomal recessive

MedGen UID:
434812
Concept ID:
CN071281
Disease or Syndrome
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