Details of Disease

General Information of Disease (ID: DISHDLPB)

Disease Name Cataract 18
Synonyms
cataract, autosomal recessive congenital 2; CATC2; FYCO1 cataract (disease); cataract 18 autosomal recessive; cataract 18; cataract 18, autosomal recessive; cataract type 18; cataract (disease) caused by mutation in FYCO1; autosomal recessive congenital cataract 2; CTRCT18
Definition Any cataract in which the cause of the disease is a mutation in the FYCO1 gene.
Disease Hierarchy
DISUD7SL: Cataract
DISHDLPB: Cataract 18
Disease Identifiers
MONDO ID
MONDO_0012395
MESH ID
C535337
UMLS CUI
C1864908
OMIM ID
610019
MedGen ID
351249

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
FYCO1 OTKZHTZ5 Definitive Autosomal recessive [1]
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References

1 Mutations in FYCO1 cause autosomal-recessive congenital cataracts. Am J Hum Genet. 2011 Jun 10;88(6):827-838. doi: 10.1016/j.ajhg.2011.05.008.