Details of Disease | DrugMAP

General Information of Disease (ID: DIS277JB)

Disease Name	Congenital cataracts-facial dysmorphism-neuropathy syndrome
Synonyms	congenital cataracts, facial dysmorphism, and neuropathy; cataract, congenital, with Facial Dysmorphism and neuropathy; CCFDN; congenital cataracts-facial dysmorphism-neuropathy syndrome
Definition	Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance.
Disease Hierarchy	DIS2BIP8: Congenital nervous system disorder DISY8J7U: Autosomal recessive degenerative and progressive cerebellar ataxia DISU69FG: Partial duplication of the short arm of chromosome 16 DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability DIS277JB: Congenital cataracts-facial dysmorphism-neuropathy syndrome
Disease Identifiers	MONDO ID MONDO_0011402 MESH ID C565822 UMLS CUI C1858726 OMIM ID 604168 MedGen ID 346973 Orphanet ID 48431 SNOMED CT ID 702433001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SGCG	TTSMT9W	Strong	Biomarker	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CTDP1	OTHHFW17	Definitive	Autosomal recessive	[2]
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References

1	Carrier rates of four single-gene disorders in Croatian Bayash Roma.Genet Test Mol Biomarkers. 2014 Feb;18(2):83-7. doi: 10.1089/gtmb.2013.0323. Epub 2013 Nov 4.
2	Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome. Nat Genet. 2003 Oct;35(2):185-9. doi: 10.1038/ng1243. Epub 2003 Sep 21.