Details of Disease | DrugMAP

General Information of Disease (ID: DISACMEZ)

Disease Name	Total early-onset cataract
Synonyms	CCT; cataract, total congenital with posterior sutural opacities in heterozygotes; cataract, total congenital
Disease Hierarchy	DIS4VPS0: Early-onset non-syndromic cataract DISACMEZ: Total early-onset cataract
Disease Identifiers	MONDO ID MONDO_0021548 UMLS CUI C0266539 MedGen ID 75616 Orphanet ID 98994 SNOMED CT ID 29590001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 8 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
AGK	TTJETQC	Supportive	Autosomal dominant	[1]
CRYAA	TT8CWJG	Supportive	Autosomal dominant	[2]
EPHA2	TTRJB2G	Supportive	Autosomal dominant	[3]
GJA8	TTJ7ATH	Supportive	Autosomal dominant	[4]
AGK	TTJETQC	Strong	GermlineCausalMutation	[5]
CRYAA	TT8CWJG	Strong	GermlineCausalMutation	[2]
EPHA2	TTRJB2G	Strong	GermlineCausalMutation	[3]
GJA8	TTJ7ATH	Strong	GermlineCausalMutation	[4]
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⏷ Show the Full List of 8 DTT(s)

This Disease Is Related to 14 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
AGK	OTJGWBYT	Supportive	Autosomal dominant	[1]
CRYAA	OTSN7JUR	Supportive	Autosomal dominant	[2]
CRYBB2	OTL0Z8E6	Supportive	Autosomal dominant	[6]
CRYGB	OTU4GEMD	Supportive	Autosomal dominant	[7]
DNMBP	OTMHH14H	Supportive	Autosomal dominant	[8]
EPHA2	OTI6QNX2	Supportive	Autosomal dominant	[3]
FYCO1	OTKZHTZ5	Supportive	Autosomal dominant	[5]
GCNT2	OTRUIMC4	Supportive	Autosomal dominant	[9]
GJA8	OTZCPRKD	Supportive	Autosomal dominant	[4]
HSF4	OT1UX9SK	Supportive	Autosomal dominant	[10]
LEMD2	OT0YLT7L	Supportive	Autosomal dominant	[11]
LIM2	OTK7R6HC	Supportive	Autosomal dominant	[12]
MIP	OTEBLU3E	Supportive	Autosomal dominant	[13]
SIPA1L3	OTNYFUM3	Supportive	Autosomal dominant	[14]
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⏷ Show the Full List of 14 DOT(s)

References

1	Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus. Hum Mutat. 2012 Jun;33(6):960-2. doi: 10.1002/humu.22071. Epub 2012 Apr 16.
2	Identification of a novel, putative cataract-causing allele in CRYAA (G98R) in an Indian family. Mol Vis. 2006 Jul 12;12:768-73.
3	Mutations of the EPHA2 receptor tyrosine kinase gene cause autosomal dominant congenital cataract. Hum Mutat. 2009 May;30(5):E603-11. doi: 10.1002/humu.20995.
4	Mutation of the gap junction protein alpha 8 (GJA8) gene causes autosomal recessive cataract. J Med Genet. 2007 Jul;44(7):e85. doi: 10.1136/jmg.2007.050138.
5	Phenotypes of Recessive Pediatric Cataract in a Cohort of Children with Identified Homozygous Gene Mutations (An American Ophthalmological Society Thesis). Trans Am Ophthalmol Soc. 2015;113:T7.
6	Molecular analysis of cataract families in India: new mutations in the CRYBB2 and GJA3 genes and rare polymorphisms. Mol Vis. 2010 Sep 10;16:1837-47.
7	Novel crystallin gamma B mutations in a Kuwaiti family with autosomal dominant congenital cataracts reveal genetic and clinical heterogeneity. Mol Vis. 2012;18:2931-6. Epub 2012 Dec 9.
8	Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts. Am J Hum Genet. 2018 Oct 4;103(4):568-578. doi: 10.1016/j.ajhg.2018.09.004.
9	An Alu repeat-mediated genomic GCNT2 deletion underlies congenital cataracts and adult i blood group. Hum Genet. 2012 Feb;131(2):209-16. doi: 10.1007/s00439-011-1062-1. Epub 2011 Jul 15.
10	A homozygous splice mutation in the HSF4 gene is associated with an autosomal recessive congenital cataract. Invest Ophthalmol Vis Sci. 2004 Aug;45(8):2716-21. doi: 10.1167/iovs.03-1370.
11	Hutterite-type cataract maps to chromosome 6p21.32-p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death. Mol Genet Genomic Med. 2015 Nov 14;4(1):77-94. doi: 10.1002/mgg3.181. eCollection 2016 Jan.
12	A missense mutation in LIM2 causes autosomal recessive congenital cataract. Mol Vis. 2008 Jun 23;14:1204-8.
13	A novel mutation in major intrinsic protein of the lens gene (MIP) underlies autosomal dominant cataract in a Chinese family. Mol Vis. 2007 Sep 11;13:1651-6.
14	SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract. Eur J Hum Genet. 2015 Dec;23(12):1627-33. doi: 10.1038/ejhg.2015.46. Epub 2015 Mar 25.