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Search results

Items: 8

1.

Anterior segment dysgenesis 1

MedGen UID:
1631197
Concept ID:
C4551992
Disease or Syndrome
2.

Cataract 16 multiple types

Mutations in the CRYAB gene have been found to cause multiple types of cataract, which have been described as congenital posterior polar, congenital lamellar, and juvenile. Autosomal dominant and autosomal recessive forms have been described. The preferred title/symbol of this entry was formerly 'Cataract, Posterior Polar, 2; CTPP2.' [from OMIM]

MedGen UID:
814707
Concept ID:
C3808377
Disease or Syndrome
3.

Primrose syndrome

Primrose syndrome is characterized by macrocephaly, hypotonia, developmental delay, intellectual disability with expressive speech delay, behavioral issues, a recognizable facial phenotype, radiographic features, and altered glucose metabolism. Additional features seen in adults: sparse body hair, distal muscle wasting, and contractures. Characteristic craniofacial features include brachycephaly, high anterior hairline, deeply set eyes, ptosis, downslanted palpebral fissures, high palate with torus palatinus, broad jaw, and large ears with small or absent lobes. Radiographic features include calcification of the external ear cartilage, multiple Wormian bones, platybasia, bathrocephaly, slender bones with exaggerated metaphyseal flaring, mild epiphyseal dysplasia, and spondylar dysplasia. Additional features include hearing impairment, ocular anomalies, cryptorchidism, and nonspecific findings on brain MRI. [from GeneReviews]

MedGen UID:
162911
Concept ID:
C0796121
Disease or Syndrome
4.

Retinitis pigmentosa 74

Any retinitis pigmentosa in which the cause of the disease is a mutation in the BBS2 gene. [from MONDO]

MedGen UID:
906896
Concept ID:
C4225281
Disease or Syndrome
5.

ADan amyloidosis

ITM2B-related cerebral amyloid angiopathy-2, also known as familial Danish dementia (FDD), is an autosomal dominant neurodegenerative disorder characterized by the progressive development of cataracts and other ocular disorders including ocular hemorrhages, hearing impairment, varying neurologic symptoms, and dementia, usually associated with paranoid reactions and temporal disturbance of consciousness. Most patients die in the fifth to sixth decade of life. Neuropathologic findings include severe widespread cerebral amyloid angiopathy, hippocampal plaques, and neurofibrillary tangles, similar to Alzheimer disease (see 104300) (summary by Vidal et al., 2000). [from OMIM]

MedGen UID:
396208
Concept ID:
C1861735
Disease or Syndrome
6.

Cataract 6 multiple types

Mutations in the EPHA2 gene have been found to cause multiple types of cataract, which have been described as posterior polar, congenital total, complete, and age-related cortical. The preferred title/symbol of this entry was formerly 'Cataract, posterior polar, 1; CTPP1,' and 'Cataract, Age-Related Cortical, 2; ARCC2' was formerly a distinct entry. [from OMIM]

MedGen UID:
396229
Concept ID:
C1861825
Disease or Syndrome
7.

Cataract 30

Mutations in the VIM gene have been found to cause multiple types of congenital cataract, which have been described as congenital, pulverulent, and posterior polar. [from OMIM]

MedGen UID:
811741
Concept ID:
C3805411
Disease or Syndrome
8.

Posterior polar cataract

A polar cataract that affects the posterior pole of the lens. [from HPO]

MedGen UID:
376725
Concept ID:
C1850191
Anatomical Abnormality; Finding

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