Details of Disease

General Information of Disease (ID: DISVQKUG)

Disease Name Hypogonadotropic hypogonadism 1 with or without anosmia
Synonyms
HH1; Kallmann syndrome, X-linked; Kallmann syndrome 1; hypogonadotropic hypogonadism and anosmia; dysplasia Olfactogenitalis of De Morsier; KMS; anosmic hypogonadism; KAL1; Kallmann syndrome, type 1, X-linked; dysplasia olfactogenitalis of de Morsier; hypogonadotropic hypogonadism 1 with or without anosmia; hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), X-linked recessive; hypogonadotropic hypogonadism caused by mutation in ANOS1; ANOS1 hypogonadotropic hypogonadism
Definition The X-linked inherited form of Kallmann syndrome caused by mutation of the KAL1 gene mapped to chromosome Xp22.3.
Disease Hierarchy
DIS8JSKR: Hypogonadotropic hypogonadism
DISO3HDG: Kallmann syndrome
DISVQKUG: Hypogonadotropic hypogonadism 1 with or without anosmia
Disease Identifiers
MONDO ID
MONDO_0010635
MESH ID
D017436
UMLS CUI
C1563719
OMIM ID
308700
MedGen ID
295872

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
FGFR1 TTRLW2X Strong Genetic Variation [1]
GNRHR TT8R70G Strong CausalMutation [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ANOS1 OTZJT4KN Definitive X-linked [3]
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References

1 Clinical assessment and mutation analysis of Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, or KAL2) in five families and 18 sporadic patients.J Clin Endocrinol Metab. 2004 Mar;89(3):1079-88. doi: 10.1210/jc.2003-030476.
2 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.
3 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.