Details of Disease

General Information of Disease (ID: DISVY7CR)

Disease Name Isolated growth hormone deficiency, type 5
Synonyms ISOLATED GROWTH HORMONE DEFICIENCY, TYPE V; IGHD5; pituitary hormone deficiency, combined or isolated, 7
Disease Hierarchy
DISTL7RP: Isolated congenital growth hormone deficiency
DISVY7CR: Isolated growth hormone deficiency, type 5
Disease Identifiers
MONDO ID
MONDO_0032569
UMLS CUI
C4748435
OMIM ID
618160
MedGen ID
1648500

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
GH1 TTT3YKH moderate GermlineCausalMutation [1]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GHRH OT94U6MO Strong Biomarker [2]
RNPC3 OTW5MKC1 Definitive Autosomal recessive [3]
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References

1 Phenotype-genotype correlations in congenital isolated growth hormone deficiency (IGHD).Indian J Pediatr. 2012 Jan;79(1):99-106. doi: 10.1007/s12098-011-0614-7. Epub 2011 Dec 3.
2 GH, but not GHRH, plays a role in the development of experimental autoimmune encephalomyelitis.Endocrinology. 2011 Oct;152(10):3803-10. doi: 10.1210/en.2011-1317. Epub 2011 Aug 16.
3 Establishing intellectual disability as the key feature of patients with biallelic RNPC3 variants. Am J Med Genet A. 2021 Jun;185(6):1836-1840. doi: 10.1002/ajmg.a.62152. Epub 2021 Mar 1.