Details of Disease

General Information of Disease (ID: DISUEBFP)

Disease Name Cerebellar ataxia-hypogonadism syndrome
Synonyms
luteinizing hormone-releasing hormone, deficiency of, with ataxia; cerebellar ataxia and hypogonadotropic hypogonadism; cerebellar ataxia - hypogonadism; luteinizing hormone releasing hormone, deficiency of with ataxia; GDHS; LHRH deficiency and ataxia; Gordon Holmes syndrome; Gordon-Holmes syndrome; luteinizing hormone-releasing hormone deficiency with ataxia
Definition
Cerebellar ataxia-hypogonadism syndrome is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia-hypogonadism syndrome belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as ataxia-hypogonadism-choroidal dystrophy syndrome.
Disease Hierarchy
DISEV092: Congenital hypogonadotropic hypogonadism
DISPN7D2: Inherited neurodegenerative disorder
DISUEBFP: Cerebellar ataxia-hypogonadism syndrome
Disease Identifiers
MONDO ID
MONDO_0008935
MESH ID
C565870
UMLS CUI
C1859305
OMIM ID
212840
MedGen ID
349137
Orphanet ID
1173
SNOMED CT ID
230240004

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
PNPLA6 TTWAQU2 Supportive Autosomal recessive [1]
PNPLA6 TTWAQU2 Strong Biomarker [2]
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This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PNPLA6 OTT5T45Q Supportive Autosomal recessive [1]
OTUD4 OT7U62SW Strong Genetic Variation [3]
RNF216 OTR1XEZ3 Strong Autosomal recessive [4]
STUB1 OTSUYI9A Strong Biomarker [5]
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References

1 PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum. Brain. 2014 Jan;137(Pt 1):69-77. doi: 10.1093/brain/awt326. Epub 2013 Dec 19.
2 The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview.J Inherit Metab Dis. 2015 Jan;38(1):19-40. doi: 10.1007/s10545-014-9776-6. Epub 2014 Nov 21.
3 Ataxia and hypogonadism caused by the loss of ubiquitin ligase activity of the U box protein CHIP. Hum Mol Genet. 2014 Feb 15;23(4):1013-24. doi: 10.1093/hmg/ddt497. Epub 2013 Oct 9.
4 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
5 Establishment of STUB1/CHIP mutant induced pluripotent stem cells (iPSCs) from a patient with Gordon Holmes syndrome/SCAR16.Stem Cell Res. 2018 May;29:166-169. doi: 10.1016/j.scr.2018.04.001. Epub 2018 Apr 9.