Details of Disease | DrugMAP

General Information of Disease (ID: DISVFM4T)

Disease Name	Pituitary hormone deficiency, combined, 1
Synonyms	pituitary hormone deficiency, combined 1; pituitary hormone deficiency, combined, 1; POU1F1 combined pituitary hormone deficiencies, genetic form; combined pituitary hormone deficiencies, genetic form caused by mutation in POU1F1; pituitary hormone deficiency, combined or isolated, 1; CPHD1
Definition	Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the POU1F1 gene.
Disease Hierarchy	DISW6YL6: Combined pituitary hormone deficiencies, genetic form DISVFM4T: Pituitary hormone deficiency, combined, 1
Disease Identifiers	MONDO ID MONDO_0024464 MESH ID C567803 UMLS CUI C2751608 OMIM ID 613038 MedGen ID 414421

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
GLI2	TT045OH	Strong	GermlineCausalMutation	[1]
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This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
HESX1	OT5E2Z4G	Strong	GermlineCausalMutation	[2]
LHX4	OTVX3J6S	Strong	GermlineCausalMutation	[3]
OTX2	OTTV05B1	Strong	GermlineCausalMutation	[4]
PROP1	OT8GF6N8	Strong	GermlineCausalMutation	[5]
POU1F1	OTXT8A5C	Definitive	Semidominant	[6]
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References

1	Novel heterozygous nonsense GLI2 mutations in patients with hypopituitarism and ectopic posterior pituitary lobe without holoprosencephaly. J Clin Endocrinol Metab. 2010 Nov;95(11):E384-91. doi: 10.1210/jc.2010-1050. Epub 2010 Aug 4.
2	A homozygous mutation in HESX1 is associated with evolving hypopituitarism due to impaired repressor-corepressor interaction. J Clin Invest. 2003 Oct;112(8):1192-201. doi: 10.1172/JCI18589.
3	Novel Lethal Form of Congenital Hypopituitarism Associated With the First Recessive LHX4 Mutation. J Clin Endocrinol Metab. 2015 Jun;100(6):2158-64. doi: 10.1210/jc.2014-4484. Epub 2015 Apr 14.
4	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.
5	Mutations in PROP1 cause familial combined pituitary hormone deficiency. Nat Genet. 1998 Feb;18(2):147-9. doi: 10.1038/ng0298-147.
6	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.