Details of Disease

General Information of Disease (ID: DISH3EO5)

• Disease Name: Isolated growth hormone deficiency type II
• Synonyms: Growth hormone deficiency, isolated autosomal dominant; IGHD 2; pituitary dwarfism due to isolated Growth hormone deficiency, autosomal dominant; isolated growth hormone deficiency, type II; isolated growth hormone deficiency type 2; pituitary dwarfism due to isolated growth hormone deficiency autosomal dominant; isolated Growth hormone deficiency, type 2; IGHD2; Growth hormone deficiency, isolated, autosomal dominant; IGHD II; congenital isolated growth hormone deficiency type II; congenital isolated GH deficiency type II; autosomal dominant isolated growth hormone deficiency; congenital IGHD type II; autosomal dominant pituitary dwarfism due to isolated growth hormone deficiency; growth hormone deficiency, isolated, type II
• Disease Hierarchy:
  DISTL7RP: Isolated congenital growth hormone deficiency
  DISH3EO5: Isolated growth hormone deficiency type II
• Disease Identifiers:
  MONDO ID: MONDO_0008250
  MESH ID: C562704
  UMLS CUI: C0271567
  OMIM ID: 173100
  MedGen ID: 124405
  Orphanet ID: 231679
  SNOMED CT ID: 237687003

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GH1	TTT3YKH	Strong	Autosomal dominant	[1]
GH1	TTT3YKH	Strong	Genetic Variation	[2]

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
POU1F1	OTXT8A5C	Supportive	Autosomal dominant	[3]
CSHL1	OTQKU2F5	moderate	Biomarker	[4]
GH1	OT92RTRD	Strong	Autosomal dominant	[1]

References

• [1] Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
• [2] Decreased Activity of the Ghrhr and Gh Promoters Causes Dominantly Inherited GH Deficiency in Humanized GH1 Mouse Models.Endocrinology. 2019 Nov 1;160(11):2673-2691. doi: 10.1210/en.2019-00306.
• [3] Functional characterization of a human POU1F1 mutation associated with isolated growth hormone deficiency: a novel etiology for IGHD. Hum Mol Genet. 2016 Feb 1;25(3):472-83. doi: 10.1093/hmg/ddv486. Epub 2015 Nov 26.
• [4] A novel missense mutation in the mouse growth hormone gene causes semidominant dwarfism, hyperghrelinemia, and obesity.Endocrinology. 2004 May;145(5):2531-41. doi: 10.1210/en.2003-1125. Epub 2004 Jan 15.