Cataract 1, Multiple Types (CTRCT1)

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OMIM 57 116200 Disease Ontology 12 DOID:0110231 ICD10 33 Q12.0 MedGen 42 C1861828

MeSH 44 D002386 SNOMED-CT via HPO 69 263681008 26098002 128306009 193570009 247053007 609587005 79410001 57190000 563001 5587004 315353005 413921009 64634000 95735008 53889007 more UMLS 73 C1861828 C1861829

UniProtKB/Swiss-Prot : ⁷⁵ Cataract 1, multiple types: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT1 includes congenital, zonular pulverulent, nuclear progressive, nuclear pulverulent, nuclear total, total, and posterior subcapsular types of cataract. Zonular or lamellar cataracts are opacities, broad or narrow, usually consisting of powdery white dots affecting only certain layers or zones between the cortex and nucleus of an otherwise clear lens. The opacity may be so dense as to render the entire central region of the lens completely opaque, or so translucent that vision is hardly if at all impeded. Zonular cataracts generally do not involve the embryonic nucleus, though sometimes they involve the fetal nucleus. Usually sharply separated from a clear cortex outside them, they may have projections from their outer edges known as riders or spokes. In some cases cataract is associated with microcornea without any other systemic anomaly or dysmorphism. Microcornea is defined by a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye.

MalaCards based summary : Cataract 1, Multiple Types, also known as cataract 1, multiple types, with or without microcornea, is related to cataract 14, multiple types and cataract microcornea syndrome. An important gene associated with Cataract 1, Multiple Types is GJA8 (Gap Junction Protein Alpha 8). Affiliated tissues include eye and cortex, and related phenotypes are nystagmus and cataract

Disease Ontology : ¹² A cataract that has material basis in heterozygous mutation in the gene encoding the alpha-8 subunit of the gap junction protein (GJA8) on chromosome 1q21.

OMIM : ⁵⁷ Mutations in the GJA8 gene have been found to cause several types of autosomal dominant cataract, which have been described as congenital, zonular pulverulent, nuclear progressive, nuclear pulverulent, stellate nuclear, nuclear total, total, and posterior subcapsular. Cataract associated with microcornea, sometimes called the cataract-microcornea syndrome, is also caused by mutation in the GJA8 gene. Before it was known that mutation in the GJB8 gene caused multiple types of cataract, this entry was titled 'Cataract, zonular pulverulent, 1,' with the symbols CZP1, CZP, and CAE1. (116200)

Clinical features from OMIM:

116200

Search Clinical Trials , NIH Clinical Center for Cataract 1, Multiple Types

Search GEO for disease gene expression data for Cataract 1, Multiple Types.