Details of Disease

General Information of Disease (ID: DISB7SJS)

• Disease Name: Early-onset posterior subcapsular cataract
• Disease Hierarchy:
  DISQWNAO: Early-onset partial cataract
  DISB7SJS: Early-onset posterior subcapsular cataract
• Disease Identifiers:
  MONDO ID: MONDO_0018610
  UMLS CUI: C5681190
  MedGen ID: 1842187
  Orphanet ID: 441447

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
UNC45B	OTYKQ9O5	Supportive	Autosomal dominant	[1]
CHMP4B	OT854ZK7	Supportive	Autosomal dominant	[2]
CRYBB2	OTL0Z8E6	Supportive	Autosomal dominant	[4]
EPHA2	OTI6QNX2	Supportive	Autosomal dominant	[3]
LEMD2	OT0YLT7L	Supportive	Autosomal dominant	[5]

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CHMP4B	TT09EZF	Supportive	Autosomal dominant	[2]
EPHA2	TTRJB2G	Supportive	Autosomal dominant	[3]

References

• [1] The myosin chaperone UNC45B is involved in lens development and autosomal dominant juvenile cataract. Eur J Hum Genet. 2014 Nov;22(11):1290-7. doi: 10.1038/ejhg.2014.21. Epub 2014 Feb 19.
• [2] CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q. Am J Hum Genet. 2007 Sep;81(3):596-606. doi: 10.1086/519980. Epub 2007 Jul 27.
• [3] Mutations in the EPHA2 gene are a major contributor to inherited cataracts in South-Eastern Australia. PLoS One. 2013 Aug 27;8(8):e72518. doi: 10.1371/journal.pone.0072518. eCollection 2013.
• [4] Characterization of a novel mutation in the CRYBB2 gene associated with autosomal dominant congenital posterior subcapsular cataract in a Chinese family. Mol Vis. 2011 Jan 13;17:144-52.
• [5] 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.