Details of Disease

General Information of Disease (ID: DISW6YL6)

Disease Name Combined pituitary hormone deficiencies, genetic form
Synonyms
combined pituitary hormone deficiencies, genetic forms; familial hypopituitarism; pituitary hormone deficiency, combined; familial congenital hypopituitarism; multiple pituitary hormone deficiencies, genetic forms; genetic hypopituitarism
Definition
Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy.
Disease Hierarchy
DIS2BIP8: Congenital nervous system disorder
DISD715V: Hereditary neurological disease
DISEV092: Congenital hypogonadotropic hypogonadism
DIS1QT3G: Hypopituitarism
DISW6YL6: Combined pituitary hormone deficiencies, genetic form
Disease Identifiers
MONDO ID
MONDO_0013099
UMLS CUI
C4273747
MedGen ID
906592
Orphanet ID
95494
SNOMED CT ID
718182008

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 Supportive Autosomal dominant [1]
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This Disease Is Related to 7 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GLI2 OTIRV97L Supportive Autosomal dominant [1]
HESX1 OT5E2Z4G Supportive Autosomal dominant [2]
LHX4 OTVX3J6S Supportive Autosomal dominant [3]
OTX2 OTTV05B1 Supportive Autosomal dominant [4]
POU1F1 OTXT8A5C Supportive Autosomal dominant [5]
PROP1 OT8GF6N8 Supportive Autosomal dominant [6]
FOXA2 OTJOCVOY Moderate Autosomal dominant [7]
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⏷ Show the Full List of 7 DOT(s)

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 Mutation analysis of POUF-1, PROP-1 and HESX-1 show low frequency of mutations in children with sporadic forms of combined pituitary hormone deficiency and septo-optic dysplasia. Clin Endocrinol (Oxf). 2005 Feb;62(2):163-8. doi: 10.1111/j.1365-2265.2004.02189.x.
6 Mutations in PROP1 cause familial combined pituitary hormone deficiency. Nat Genet. 1998 Feb;18(2):147-9. doi: 10.1038/ng0298-147.
7 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.