Details of Disease

General Information of Disease (ID: DISRVFVX)

Disease Name Hypogonadotropic hypogonadism 2 with or without anosmia
Synonyms Kallmann syndrome 2; HH2; KAL2; hypogonadotropic hypogonadism 2 with or without anosmia; hypogonadotropic hypogonadism caused by mutation in FGFR1; FGFR1 hypogonadotropic hypogonadism
Definition Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGFR1 gene.
Disease Hierarchy
DIS8JSKR: Hypogonadotropic hypogonadism
DISO3HDG: Kallmann syndrome
DISRVFVX: Hypogonadotropic hypogonadism 2 with or without anosmia
Disease Identifiers
MONDO ID
MONDO_0007844
MESH ID
D017436
UMLS CUI
C1563720
OMIM ID
147950
MedGen ID
289648

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
GNRHR TT8R70G Strong CausalMutation [1]
FGFR1 TTRLW2X Definitive Autosomal dominant [2]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ANOS1 OTZJT4KN moderate CausalMutation [3]
FGFR1 OT4GLCXW Definitive Autosomal dominant [2]
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References

1 When genetic load does not correlate with phenotypic spectrum: lessons from the GnRH receptor (GNRHR).J Clin Endocrinol Metab. 2012 Sep;97(9):E1798-807. doi: 10.1210/jc.2012-1264. Epub 2012 Jun 28.
2 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.
3 Prioritizing genetic testing in patients with Kallmann syndrome using clinical phenotypes.J Clin Endocrinol Metab. 2013 May;98(5):E943-53. doi: 10.1210/jc.2012-4116. Epub 2013 Mar 26.