Details of Disease

General Information of Disease (ID: DIS21OA7)

• Disease Name: Short stature due to growth hormone qualitative anomaly
• Synonyms: pituitary dwarfism with normal immunoreactive Growth hormone and Low Somatomedin; Biodefective Growth hormone; KOWARSKI syndrome; Kowarski syndrome
• Definition: Short stature due to growth hormone qualitative anomaly is characterized by growth retardation and short stature (despite the presence of normal or slightly elevated levels of immunoreactive growth hormone, GH), low concentrations of insulin-like growth factor-I (IGF-I) and a significant increase in growth rate following recombinant GH therapy. Prevalence is unknown but only a few cases have been reported in the literature. The syndrome is caused by various mutations in the GH1 gene (17q22-q24) that result in structural GH anomalies and a biologically inactive molecule. Transmission is autosomal recessive.
• Disease Hierarchy:
  DISTL7RP: Isolated congenital growth hormone deficiency
  DIS21OA7: Short stature due to growth hormone qualitative anomaly
• Disease Identifiers:
  MONDO ID: MONDO_0009879
  MESH ID: C537505
  UMLS CUI: C1849779
  OMIM ID: 262650
  MedGen ID: 340412
  Orphanet ID: 629

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	Limited	Genetic Variation	[1]
GH1	TTT3YKH	Supportive	Autosomal recessive	[2]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GH1	OT92RTRD	Supportive	Autosomal recessive	[2]

References

• [1] Evaluation of the biological activity of a growth hormone (GH) mutant (R77C) and its impact on GH responsiveness and stature.J Clin Endocrinol Metab. 2007 Aug;92(8):2893-901. doi: 10.1210/jc.2006-2238. Epub 2007 May 22.
• [2] Brief report: short stature caused by a mutant growth hormone. N Engl J Med. 1996 Feb 15;334(7):432-6. doi: 10.1056/NEJM199602153340704.