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CTRCT31
MCID: CTR129
MIFTS: 35
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Cataract 31, Multiple Types (CTRCT31)
Categories:
Eye diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Oral diseases, Rare diseases
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MalaCards integrated aliases for Cataract 31, Multiple Types:
Characteristics:HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases Anatomical: Neuronal diseases Eye diseases Nephrological diseases Oral diseases
ICD10:
32
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UniProtKB/Swiss-Prot :
73
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, also known as cataract, posterior polar, 3, is related to early-onset posterior polar cataract and presbyopia. An important gene associated with Cataract 31, Multiple Types is CHMP4B (Charged Multivesicular Body Protein 4B). Affiliated tissues include eye and cortex, and related phenotypes are posterior subcapsular cataract and anterior subcapsular cataract Disease Ontology : 12 A cataract that has material basis in heterozygous mutation in the CHMP4B gene on chromosome 20q11. OMIM : 56 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) |
Human phenotypes related to Cataract 31, Multiple Types:31
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:605387GenomeRNAi Phenotypes related to Cataract 31, Multiple Types according to GeneCards Suite gene sharing:26 (show all 11)
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MalaCards organs/tissues related to Cataract 31, Multiple Types:40
Eye,
Cortex
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Articles related to Cataract 31, Multiple Types:
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Genes related to Cataract 31, Multiple Types (1 elite genes):(show all 13) - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Cataract 31, Multiple Types:6
UniProtKB/Swiss-Prot genetic disease variations for Cataract 31, Multiple Types:73
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Search
GEO
for disease gene expression data for Cataract 31, Multiple Types.
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Cellular components related to Cataract 31, Multiple Types according to GeneCards Suite gene sharing:
Biological processes related to Cataract 31, Multiple Types according to GeneCards Suite gene sharing:(show all 14)
Molecular functions related to Cataract 31, Multiple Types according to GeneCards Suite gene sharing:
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