Details of Disease

General Information of Disease (ID: DIS06PTW)

Disease Name Hypogonadotropic hypogonadism 3 with or without anosmia
Synonyms HH3; KAL3; Kallmann syndrome 3; hypogonadotropic hypogonadism caused by mutation in PROKR2; PROKR2 hypogonadotropic hypogonadism; hypogonadotropic hypogonadism 3 with or without anosmia
Definition Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the PROKR2 gene.
Disease Hierarchy
DIS8JSKR: Hypogonadotropic hypogonadism
DISO3HDG: Kallmann syndrome
DIS06PTW: Hypogonadotropic hypogonadism 3 with or without anosmia
Disease Identifiers
MONDO ID
MONDO_0009482
UMLS CUI
C3550478
OMIM ID
244200
MedGen ID
763392

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
PROKR2 TTM67AX Strong Biomarker [1]
PROKR2 TTM67AX Definitive Autosomal dominant [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PROKR2 OT51C69M Definitive Autosomal dominant [2]
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References

1 Combined pituitary hormone deficiency with unique pituitary dysplasia and morning glory syndrome related to a heterozygous PROKR2 mutation.Clin Pediatr Endocrinol. 2015 Jan;24(1):27-32. doi: 10.1297/cpe.24.27. Epub 2015 Feb 10.
2 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.