Cataract 31, Multiple Types (CTRCT31)

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Disease Ontology 12 DOID:0110265 OMIM 58 605387 MeSH 45 D002386 ICD10 34 Q12.0

MedGen 43 C1854311 SNOMED-CT via HPO 70 263681008 315352000 315353005 53889007 more UMLS 74 C1854311

UniProtKB/Swiss-Prot : ⁷⁶ Cataract 31, 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. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT31 includes posterior polar, progressive posterior subcapsular, nuclear, and anterior subcapsular cataracts.

MalaCards based summary : Cataract 31, Multiple Types, is also known as cataract, posterior polar, 3. An important gene associated with Cataract 31, Multiple Types is CHMP4B (Charged Multivesicular Body Protein 4B), and among its related pathways/superpathways are Vesicle-mediated transport and Autophagy Pathway. Affiliated tissues include eye, and related phenotypes are nuclear cataract and posterior subcapsular cataract

Disease Ontology : ¹² A cataract that has material basis in heterozygous mutation in the CHMP4B gene on chromosome 20q11.

OMIM : ⁵⁸ Mutations in the CHMP4B gene have been found to cause multiple types of cataract, which have been described as posterior polar, progressive posterior subcapsular, nuclear, and anterior subcapsular. The preferred title/symbol of this entry was formerly 'Cataract, Posterior Polar, 3; CTPP3.' (605387)

Clinical features from OMIM:

605387

Search Clinical Trials , NIH Clinical Center for Cataract 31, Multiple Types

Search GEO for disease gene expression data for Cataract 31, Multiple Types.