Details of Disease

General Information of Disease (ID: DISQK4G0)

Disease Name Pituitary hormone deficiency, combined, 2
Synonyms
panhypopituitarism; pituitary dwarfism 3; Hanhart dwarfism; CPHD2; ateliotic dwarfism with hypogonadism; combined pituitary hormone deficiencies, genetic form caused by mutation in PROP1; pituitary hormone deficiency, combined, type 2; PROP1 combined pituitary hormone deficiencies, genetic form; pituitary hormone deficiency, combined, 2
Definition Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the PROP1 gene.
Disease Hierarchy
DISAKJ4T: Panhypopituitarism
DISW6YL6: Combined pituitary hormone deficiencies, genetic form
DISQK4G0: Pituitary hormone deficiency, combined, 2
Disease Identifiers
MONDO ID
MONDO_0009878
MESH ID
C563172
UMLS CUI
C0878683
OMIM ID
262600
MedGen ID
209236

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
PROP1 OT8GF6N8 Definitive Autosomal recessive [1]
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References

1 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.