Details of Disease | DrugMAP

General Information of Disease (ID: DISWYU8M)

Disease Name	Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
Synonyms	myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay; myopathy with cataract and combined respiratory chain deficiency; mitochondrial Complex deficiency, combined; myopathy with cataract and combined respiratory-chain deficiency; myopathy, mitochondrial progressive, with congenital cataract and developmental delay; congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome; congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
Disease Hierarchy	DIS9SA7V: Mitochondrial myopathy DISK7IP8: Mitochondrial oxidative phosphorylation disorder DISWYU8M: Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
Disease Identifiers	MONDO ID MONDO_0013116 MESH ID C567769 UMLS CUI C2751320 OMIM ID 613076 MedGen ID 416525 Orphanet ID 330054

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
GFER	OTVK43OK	Strong	Autosomal recessive	[1]
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References

1	The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency. Am J Hum Genet. 2009 May;84(5):594-604. doi: 10.1016/j.ajhg.2009.04.004. Epub 2009 Apr 30.