Details of Disease

General Information of Disease (ID: DISXWNNI)

Disease Name Hypogonadotropic hypogonadism 6 with or without anosmia
Synonyms HH6; Kallmann syndrome 6; KAL6; hypogonadotropic hypogonadism 6 with or without anosmia; hypogonadotropic hypogonadism caused by mutation in FGF8; FGF8 hypogonadotropic hypogonadism
Definition Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGF8 gene.
Disease Hierarchy
DIS8JSKR: Hypogonadotropic hypogonadism
DISO3HDG: Kallmann syndrome
DISXWNNI: Hypogonadotropic hypogonadism 6 with or without anosmia
Disease Identifiers
MONDO ID
MONDO_0012988
UMLS CUI
C3552574
OMIM ID
612702
MedGen ID
765488

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
FGF8 TTIUF3J Strong Autosomal dominant [1]
FGF8 TTIUF3J Strong Biomarker [2]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
FGF8 OTFU0IUW Strong Autosomal dominant [1]
SEC23B OT2NFSIQ Strong Genetic Variation [3]
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References

1 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.
2 De novo frameshift mutation in fibroblast growth factor 8 in a male patient with gonadotropin deficiency.Horm Res Paediatr. 2014;81(2):139-44. doi: 10.1159/000355380. Epub 2013 Nov 20.
3 Hypomorphic mutations of SEC23B gene account for mild phenotypes of congenital dyserythropoietic anemia type II.Blood Cells Mol Dis. 2013 Jun;51(1):17-21. doi: 10.1016/j.bcmd.2013.02.003. Epub 2013 Mar 1.