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Cataract, congenital zonular, with sutural opacities(CTRCT10)

MedGen UID:
318817
Concept ID:
C1833229
Disease or Syndrome
Synonyms: CATARACT 10, CONGENITAL ZONULAR, WITH SUTURAL OPACITIES; CATARACT 10, MULTIPLE TYPES; CTRCT10
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: HPO
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).
 
Gene (location): CRYBA1 (17q11.2)
OMIM®: 600881

Definition

Mutations in the CRYBA1 gene have been found to cause multiple types of cataract, which have been described as congenital zonular with sutural opacities, congenital nuclear progressive, and progressive lamellar. The preferred title/symbol of this entry was formerly 'Cataract, Congenital Zonular, with Sutural Opacities; CCZS.' [from OMIM]

Clinical features

Congenital cataract
MedGen UID:
330823
Concept ID:
C1842324
Finding
Posterior Y-sutural cataract
MedGen UID:
429181
Concept ID:
CN007058
Finding
A type of sutural cataract in which the opacity follows the posterior Y suture.

Recent clinical studies

Etiology

Kannabiran C, Rogan PK, Olmos L, Basti S, Rao GN, Kaiser-Kupfer M, Hejtmancik JF
Mol Vis 1998 Oct 23;4:21. PMID: 9788845
Padma T, Ayyagari R, Murty JS, Basti S, Fletcher T, Rao GN, Kaiser-Kupfer M, Hejtmancik JF
Am J Hum Genet 1995 Oct;57(4):840-5. PMID: 7573044Free PMC Article

Clinical prediction guides

Li J, Wang Q, Fu Q, Zhu Y, Zhai Y, Yu Y, Zhang K, Yao K
Mol Vis 2013;19:767-74. Epub 2013 Apr 5 PMID: 23592913Free PMC Article
Ferrini W, Schorderet DF, Othenin-Girard P, Uffer S, Héon E, Munier FL
Invest Ophthalmol Vis Sci 2004 May;45(5):1436-41. PMID: 15111599
Kannabiran C, Rogan PK, Olmos L, Basti S, Rao GN, Kaiser-Kupfer M, Hejtmancik JF
Mol Vis 1998 Oct 23;4:21. PMID: 9788845
Padma T, Ayyagari R, Murty JS, Basti S, Fletcher T, Rao GN, Kaiser-Kupfer M, Hejtmancik JF
Am J Hum Genet 1995 Oct;57(4):840-5. PMID: 7573044Free PMC Article

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