Cataract 9, Multiple Types malady
Categories: Genetic diseases, Eye diseases, Rare diseases, Fetal diseases, Neuronal diseases
Aliases & Descriptions for Cataract 9, Multiple Types:
cataract 9, multiple types:
Inheritance: autosomal dominant inheritance
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Eye diseases, Neuronal diseases
UniProtKB/Swiss-Prot:69 Cataract 9, 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. CTRCT9 includes nuclear, zonular central nuclear, anterior polar, cortical, embryonal, anterior subcapsular, fan-shaped, and total cataracts, among others. 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 9, Multiple Types, also known as cataract, autosomal recessive congenital 1, is related to cerulean cataract and congenital cataracts, facial dysmorphism, and neuropathy, and has symptoms including microcornea, microphthalmia and iris coloboma. An important gene associated with Cataract 9, Multiple Types is CRYAA (Crystallin Alpha A). Affiliated tissues include eye, and related mouse phenotype vision/eye.
Disease Ontology:11 A cataract that has material basis in heterozygous or homozygous mutation in the CRYAA gene, which encodes alpha-A-crystallin, on chromosome 21q22.
OMIM:51 Mutations in the CRYAA gene have been found to cause multiple types of cataract, which have been described as nuclear,... (604219) more...
Human phenotypes related to Cataract 9, Multiple Types:63 (show all 10)
MalaCards organs/tissues related to Cataract 9, Multiple Types:35
UniProtKB/Swiss-Prot genetic disease variations for Cataract 9, Multiple Types:69
Clinvar genetic disease variations for Cataract 9, Multiple Types:5
Search GEO for disease gene expression data for Cataract 9, Multiple Types.
Cellular components related to Cataract 9, Multiple Types according to GeneCards Suite gene sharing:
Biological processes related to Cataract 9, Multiple Types according to GeneCards Suite gene sharing:
Molecular functions related to Cataract 9, Multiple Types according to GeneCards Suite gene sharing:
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet