Details of Disease

General Information of Disease (ID: DIS9JQ8P)

Disease Name Cataract 9 multiple types
Synonyms
cataract, autosomal recessive congenital 1; cataract 9, multiple types, with or without microcornea; cataract 9, multiple types; cataract, autosomal dominant; CATC1; autosomal recessive congenital cataract 1; cataract 9 multiple types with or without microcornea; CRYAA cataract (disease); cataract (disease) caused by mutation in CRYAA; CTRCT9
Definition Any cataract (disease) in which the cause of the disease is a mutation in the CRYAA gene.
Disease Hierarchy
DISUD7SL: Cataract
DIS9JQ8P: Cataract 9 multiple types
Disease Identifiers
MONDO ID
MONDO_0011413
MESH ID
C565815
UMLS CUI
C1858679
OMIM ID
604219
MedGen ID
347693

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 5 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CRYBB1 TTDS503 Strong Genetic Variation [1]
GJA3 TTFZRG0 Strong Genetic Variation [2]
GJA8 TTJ7ATH Strong Genetic Variation [2]
CRYAA TT8CWJG Definitive Autosomal recessive [3]
CRYAA TT8CWJG Definitive Genetic Variation [4]
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This Disease Is Related to 8 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CRYBB2 OTL0Z8E6 Strong Genetic Variation [5]
CRYGD OTW29JC4 Strong Genetic Variation [6]
CRYGS OTF5XS0C Strong Genetic Variation [7]
PANK4 OTMLNEPU Strong Genetic Variation [8]
BFSP2 OT3QREFR Definitive Genetic Variation [9]
CRYAA OTSN7JUR Definitive Autosomal recessive [3]
CRYGC OTYSTQWI Definitive Autosomal dominant [10]
PITX3 OTE2KT8P Definitive Autosomal dominant [11]
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⏷ Show the Full List of 8 DOT(s)

References

1 A nonsense mutation in CRYBB1 associated with autosomal dominant cataract linked to human chromosome 22q. Am J Hum Genet. 2002 Nov;71(5):1216-21. doi: 10.1086/344212. Epub 2002 Oct 1.
2 Mutational screening of Indian families with hereditary congenital cataract.Mol Vis. 2013 May 29;19:1141-8. Print 2013.
3 A nonsense mutation (W9X) in CRYAA causes autosomal recessive cataract in an inbred Jewish Persian family. Invest Ophthalmol Vis Sci. 2000 Oct;41(11):3511-5.
4 Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes. Hum Genet. 2013 Jul;132(7):761-70. doi: 10.1007/s00439-013-1289-0. Epub 2013 Mar 19.
5 A CRYBB2 mutation in a Taiwanese family with autosomal dominant cataract.J Formos Med Assoc. 2019 Jan;118(1 Pt 1):57-63. doi: 10.1016/j.jfma.2018.01.005. Epub 2018 Feb 12.
6 A novel human CRYGD mutation in a juvenile autosomal dominant cataract.Mol Vis. 2010 May 22;16:887-96.
7 Novel mutation in the gamma-S crystallin gene causing autosomal dominant cataract.Mol Vis. 2009;15:476-81. Epub 2009 Mar 4.
8 A novel mutation of PANK4 causes autosomal dominant congenital posterior cataract. Hum Mutat. 2019 Apr;40(4):380-391. doi: 10.1002/humu.23696. Epub 2019 Jan 23.
9 Mapping of the human CP49 gene and identification of an intragenic polymorphic marker to allow genetic linkage analysis in autosomal dominant congenital cataract.Biochem Biophys Res Commun. 2000 Apr 13;270(2):432-6. doi: 10.1006/bbrc.2000.2442.
10 The gamma-crystallins and human cataracts: a puzzle made clearer. Am J Hum Genet. 1999 Nov;65(5):1261-7. doi: 10.1086/302619.
11 Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.