MCID: XLN191
MIFTS: 9

X-Linked Hereditary Ataxia

Categories: Neuronal diseases

Aliases & Classifications for X-Linked Hereditary Ataxia

MalaCards integrated aliases for X-Linked Hereditary Ataxia:

Name: X-Linked Hereditary Ataxia 12 15

Classifications:



External Ids:

Disease Ontology 12 DOID:0050953

Summaries for X-Linked Hereditary Ataxia

MalaCards based summary : X-Linked Hereditary Ataxia is related to fragile x-associated tremor/ataxia syndrome. An important gene associated with X-Linked Hereditary Ataxia is FMR1 (Fragile X Mental Retardation 1), and among its related pathways/superpathways is Translational Control.

Related Diseases for X-Linked Hereditary Ataxia

Diseases related to X-Linked Hereditary Ataxia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 fragile x-associated tremor/ataxia syndrome 29.4 CTC1 DIP2B DMAP1 FMR1

Symptoms & Phenotypes for X-Linked Hereditary Ataxia

Drugs & Therapeutics for X-Linked Hereditary Ataxia

Search Clinical Trials , NIH Clinical Center for X-Linked Hereditary Ataxia

Genetic Tests for X-Linked Hereditary Ataxia

Anatomical Context for X-Linked Hereditary Ataxia

Publications for X-Linked Hereditary Ataxia

Variations for X-Linked Hereditary Ataxia

Expression for X-Linked Hereditary Ataxia

Search GEO for disease gene expression data for X-Linked Hereditary Ataxia.

Pathways for X-Linked Hereditary Ataxia

Pathways related to X-Linked Hereditary Ataxia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.08 EIF4A2 FMR1 KHDRBS1

GO Terms for X-Linked Hereditary Ataxia

Cellular components related to X-Linked Hereditary Ataxia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 growth cone GO:0030426 9.26 C9orf72 FMR1
2 perikaryon GO:0043204 9.16 C9orf72 FMR1
3 cytoplasmic stress granule GO:0010494 8.96 C9orf72 FMR1
4 axonal growth cone GO:0044295 8.62 C9orf72 FMR1

Molecular functions related to X-Linked Hereditary Ataxia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 poly(U) RNA binding GO:0008266 8.62 FMR1 KHDRBS1

Sources for X-Linked Hereditary Ataxia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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