Details of Disease

General Information of Disease (ID: DISHEQ1Z)

• Disease Name: Growth hormone insensitivity syndrome
• Synonyms: Growth hormone insensitivity syndromes; GHIS; short stature due to a defect in growth hormone receptor or post-receptor pathway
• Definition: Growth hormone insensitivity syndrome (GHIS) is a group of diseases characterized by marked short stature associated with normal or elevated growth hormone (GH) concentrations, which fail to respond to exogenous GH administration. GHIS comprises growth delay due to IGF-1 deficiency, growth delay due to IGF-1 resistance, Laron syndrome, short stature due to STAT5b deficiency and primary acid-labile subunit (ALS) deficiency.
• Disease Hierarchy:
  DIS6SVEE: Syndromic disease
  DIS19L71: Pediatric growth disorder
  DISHEQ1Z: Growth hormone insensitivity syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0015892
  UMLS CUI: C4318479
  MedGen ID: 1384226
  Orphanet ID: 181393

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GHR	TTHJWYD	Limited	Genetic Variation	[1]

References

• [1] A novel exonic GHR splicing mutation (c.784G > C) in a patient with classical growth hormone insensitivity syndrome.Horm Res Paediatr. 2013;79(1):32-8. doi: 10.1159/000341527. Epub 2012 Sep 20.