Details of Disease

Disease Name

Hereditary ataxia

SCA; rare hereditary ataxia

Definition

An instance of an atactic disorder that is caused by an inherited genomic modification in an individual.

Disease Hierarchy

DIS6F440: Ataxia

DISD715V: Hereditary neurological disease

DIS6JNI3: Hereditary ataxia

Disease Identifiers

MONDO ID

MONDO_0100309

MESH ID

D013132

UMLS CUI

C0004138

MedGen ID

2478

Orphanet ID

183518

SNOMED CT ID

763597000

General Information of Disease (ID: DIS6JNI3)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
HSD17B4	TTL1WGS	Strong	Biomarker	[1]
SLC2A1	TT79TKF	Strong	Biomarker	[2]
TPP1	TTOVYPT	Strong	Biomarker	[2]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
FXN	DEXVHDB	Strong	Genetic Variation	[3]
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This Disease Is Related to 9 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NFASC	OTBDUXZT	Limited	Genetic Variation	[4]
LY6E	OTMG16BZ	moderate	Biomarker	[5]
ABHD12	OTDP4F02	Strong	Biomarker	[2]
AFG3L2	OTRPMAUX	Strong	Genetic Variation	[6]
PLEKHG4	OT3RBPFL	Strong	Genetic Variation	[7]
RAB24	OTOFNAJK	Strong	Genetic Variation	[8]
SACS	OTZGXQ8A	Strong	Genetic Variation	[9]
SETX	OTG3JNOQ	Strong	Biomarker	[2]
TSEN54	OT7MR9LY	Strong	Genetic Variation	[10]
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⏷ Show the Full List of 9 DOT(s)

References

1	A homozygous missense variant in HSD17B4 identified in a consanguineous Chinese Han family with type II Perrault syndrome.BMC Med Genet. 2017 Aug 23;18(1):91. doi: 10.1186/s12881-017-0453-0.
2	Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.Brain. 2016 Nov 1;139(11):2844-2854. doi: 10.1093/brain/aww221.
3	Guidelines on the diagnosis and management of the progressive ataxias.Orphanet J Rare Dis. 2019 Feb 20;14(1):51. doi: 10.1186/s13023-019-1013-9.
4	Neurofascin (NFASC) gene mutation causes autosomal recessive ataxia with demyelinating neuropathy.Parkinsonism Relat Disord. 2019 Jun;63:66-72. doi: 10.1016/j.parkreldis.2019.02.045. Epub 2019 Mar 1.
5	Molecular epidemiology of spinocerebellar ataxias in Cuba: insights into SCA2 founder effect in Holguin.Neurosci Lett. 2009 Apr 24;454(2):157-60. doi: 10.1016/j.neulet.2009.03.015. Epub 2009 Mar 11.
6	Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28. Nat Genet. 2010 Apr;42(4):313-21. doi: 10.1038/ng.544. Epub 2010 Mar 7.
7	Mutations of the puratrophin-1 (PLEKHG4) gene on chromosome 16q22.1 are not a common genetic cause of cerebellar ataxia in a European population.J Hum Genet. 2006;51(4):363-367. doi: 10.1007/s10038-006-0372-y. Epub 2006 Feb 21.
8	Canine hereditary ataxia in old english sheepdogs and gordon setters is associated with a defect in the autophagy gene encoding RAB24.PLoS Genet. 2014 Feb 6;10(2):e1003991. doi: 10.1371/journal.pgen.1003991. eCollection 2014 Feb.
9	Novel mutations in the sacsin gene in ataxia patients from Maritime Canada.J Neurol Sci. 2010 Jan 15;288(1-2):79-87. doi: 10.1016/j.jns.2009.09.034. Epub 2009 Nov 4.
10	A familial lateonset hereditary ataxia mimicking pontocerebellar hypoplasia caused by a novel TSEN54 mutation.Mol Med Rep. 2014 Sep;10(3):1423-5. doi: 10.3892/mmr.2014.2342. Epub 2014 Jun 17.