Details of Disease

General Information of Disease (ID: DIS4AZEB)

Disease Name Cataract 5 multiple types
Synonyms cataract, Marner type; cataract 5, multiple types; cataract, lamellar; cataract (disease) caused by mutation in HSF4; CTRCT5; HSF4 cataract (disease)
Definition Any cataract (disease) in which the cause of the disease is a mutation in the HSF4 gene.
Disease Hierarchy
DIS4VPS0: Early-onset non-syndromic cataract
DISUD7SL: Cataract
DIS4AZEB: Cataract 5 multiple types
Disease Identifiers
MONDO ID
MONDO_0007290
UMLS CUI
C0266537
MedGen ID
78608
HPO ID
HP:0007971
SNOMED CT ID
204128001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CRYAB TT7RUHB Limited Biomarker [1]
GJA3 TTFZRG0 Strong Genetic Variation [2]
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This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
BFSP2 OT3QREFR moderate Genetic Variation [3]
MIP OTEBLU3E moderate Genetic Variation [4]
CRYGS OTF5XS0C Strong Genetic Variation [5]
HSF4 OT1UX9SK Definitive Autosomal recessive [6]
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References

1 p62 expression and autophagy in B-crystallin R120G mutant knock-in mouse model of hereditary cataract.Exp Eye Res. 2013 Oct;115:263-73. doi: 10.1016/j.exer.2013.06.026. Epub 2013 Jul 18.
2 Whole-genome sequencing reveals a recurrent missense mutation in the Connexin 46 (GJA3) gene causing autosomal-dominant lamellar cataract.Eye (Lond). 2018 May 1;32(10):1661-1668. doi: 10.1038/s41433-018-0154-8.
3 A new mutation in BFSP2 (G1091A) causes autosomal dominant congenital lamellar cataracts.Mol Vis. 2008;14:1906-11. Epub 2008 Oct 24.
4 An MIP/AQP0 mutation with impaired trafficking and function underlies an autosomal dominant congenital lamellar cataract. Exp Eye Res. 2013 May;110:136-41. doi: 10.1016/j.exer.2012.10.010. Epub 2012 Oct 29.
5 Targeted Exome Sequencing of Congenital Cataracts Related Genes: Broadening the Mutation Spectrum and Genotype-Phenotype Correlations in 27 Chinese Han Families. Sci Rep. 2017 Apr 27;7(1):1219. doi: 10.1038/s41598-017-01182-9.
6 Novel mutations in HSF4 cause congenital cataracts in Chinese families. BMC Med Genet. 2018 Aug 24;19(1):150. doi: 10.1186/s12881-018-0636-3.