Details of Disease

General Information of Disease (ID: DISAKZ49)

Disease Name Pituitary hormone deficiency, combined, 6
Synonyms
CPHD6; pituitary hormone deficiency, combined, type 6; pituitary hormone deficiency, combined, 6; OTX2 combined pituitary hormone deficiencies, genetic form; combined pituitary hormone deficiencies, genetic form caused by mutation in OTX2
Definition Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the OTX2 gene.
Disease Hierarchy
DISW6YL6: Combined pituitary hormone deficiencies, genetic form
DISAKZ49: Pituitary hormone deficiency, combined, 6
Disease Identifiers
MONDO ID
MONDO_0013518
UMLS CUI
C3151440
OMIM ID
613986
MedGen ID
462790

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
OTX2 OTTV05B1 Strong Autosomal dominant [1]
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References

1 A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency. J Clin Endocrinol Metab. 2008 Nov;93(11):4351-9. doi: 10.1210/jc.2008-1189. Epub 2008 Aug 26.