Details of Disease

General Information of Disease (ID: DISTMPHX)

Disease Name Hypogonadotropic hypogonadism 4 with or without anosmia
Synonyms
Kallmann syndrome 4; HH4; Kallman syndrome 4; KAL4; hypogonadotropic hypogonadism caused by mutation in PROK2; hypogonadotropic hypogonadism 4 with or without anosmia; PROK2 hypogonadotropic hypogonadism
Definition Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the PROK2 gene.
Disease Hierarchy
DIS8JSKR: Hypogonadotropic hypogonadism
DISO3HDG: Kallmann syndrome
DISTMPHX: Hypogonadotropic hypogonadism 4 with or without anosmia
Disease Identifiers
MONDO ID
MONDO_0012528
UMLS CUI
C3552343
OMIM ID
610628
MedGen ID
765257

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
PROK2 OT70IFEZ Definitive Semidominant [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.