Details of Disease | DrugMAP

General Information of Disease (ID: DIS7UNOI)

Disease Name	Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy
Synonyms	Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy; growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy; GRIDHH; growth retardation, impaired intellectual development, hypotonia, and hepatopathy; GRIDHH
Definition	A rare, genetic, syndromic intellectual disability disease characterized by severe intrauterine and post-natal growth delay, moderate to severe intellectual disability, and neonatal-onset hepatopathy with fibrosis, steatosis, and/or cholestasis, occasionally leading to liver failure. Additional variable manifestations include muscular hypotonia, zinc deficiency, recurrent infections, diabetes mellitus, joint contractures, skin and joint laxity, hypervitaminosis D, and sensorineural hearing loss.\|This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'endocrine system disorder' (MONDO:0005151) ontology branch (https://orcid.org/0000-0001-9310-0163)and from the 'digestive system disorder' (MONDO:0004335) ontology branch (https://orcid.org/0000-0001-9310-0163)
Disease Hierarchy	DIS6SVEE: Syndromic disease DISCPWH9: Autosomal recessive disease DIS7UNOI: Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy
Disease Identifiers	MONDO ID MONDO_0014911 UMLS CUI C4310720 OMIM ID 617093 MedGen ID 934687 Orphanet ID 541423

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
IARS1	TTYD3AN	Strong	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
IARS1	OT9WXH5N	Strong	Autosomal recessive	[1]
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References

1	Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy. Am J Hum Genet. 2016 Aug 4;99(2):414-22. doi: 10.1016/j.ajhg.2016.05.027. Epub 2016 Jul 14.