Details of Disease | DrugMAP

General Information of Disease (ID: DISC6AZ9)

Disease Name	Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
Synonyms	cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia; CAGSSS
Disease Hierarchy	DISSYRHC: Hereditary peripheral neuropathy DIS19L71: Pediatric growth disorder DIS1JG9A: Spondyloepiphyseal dysplasia DISK7IP8: Mitochondrial oxidative phosphorylation disorder DISC6AZ9: Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
Disease Identifiers	MONDO ID MONDO_0014455 UMLS CUI C4014942 OMIM ID 616007 MedGen ID 863379 Orphanet ID 436174 SNOMED CT ID 1220595008

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
IARS2	OTDX4SCA	Strong	Autosomal recessive	[1]
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References

1	Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome. Hum Mutat. 2014 Nov;35(11):1285-9. doi: 10.1002/humu.22629. Epub 2014 Oct 18.