MCID: XLN191
MIFTS: 19

X-Linked Hereditary Ataxia

Categories: Genetic diseases, 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

Disease Ontology : 12 A hereditary ataxia that is characterized by X-linked inheritance.

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

(show all 47)
# Related Disease Score Top Affiliating Genes
1 fragile x-associated tremor/ataxia syndrome 28.4 RBMX PURA PPP2R2B NOP56 MBNL1 KHDRBS1
2 fragile x tremor/ataxia syndrome 10.3 PURA FMR1-AS1 FMR1
3 myotonic dystrophy 10.2 MBNL1 DMPK CELF1
4 echolalia 10.2 FMR1 C9orf72
5 spinocerebellar ataxia 31 10.2 NOP56 C9orf72 ATXN10
6 dermatopathia pigmentosa reticularis 10.1 PURA HNRNPA3 C9orf72
7 multisystem proteinopathy 10.1 HNRNPA3 HNRNPA2B1 C9orf72
8 lens disease 10.1 MBNL1 DMPK CELF1
9 specific developmental disorder 10.1 GRM5 FMR1 C9orf72
10 familial adult myoclonic epilepsy 10.1 C9orf72 ATXN8OS ATXN10
11 oculopharyngeal muscular dystrophy 10.1 MBNL1 HNRNPA2B1 DMPK CELF1
12 spinocerebellar ataxia 37 10.1 NOP56 ATXN8OS ATXN10
13 tactile agnosia 10.1 PPP2R2B ATXN7
14 mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance 10.1 FXN FMR1 ATXN7
15 myotonia 10.0 MBNL1 DMPK
16 cerebellar ataxia type 9 10.0 PPP2R2B ATXN7 ATXN10
17 mutism 10.0 FMR1 C9orf72
18 spinocerebellar ataxia 36 10.0 NOP56 C9orf72 ATXN8OS ATXN10
19 muscular dystrophy 10.0 MBNL1 HNRNPA2B1 FMR1 DMPK CELF1
20 chromosomal deletion syndrome 10.0 FMR1 DROSHA DGCR8
21 choreatic disease 10.0 FXN C9orf72 ATXN7
22 spinocerebellar ataxia 7 10.0 FMR1-AS1 ATXN8OS ATXN7
23 neuromuscular disease 9.9 MBNL1 FXN DMPK CELF1 C9orf72
24 spinocerebellar ataxia 12 9.9 PPP2R2B ATXN8OS ATXN7
25 spinocerebellar ataxia 17 9.9 PPP2R2B ATXN8OS ATXN7
26 spinocerebellar ataxia 2 9.9 HNRNPA2B1 C9orf72 ATXN8OS ATXN7
27 spinocerebellar ataxia 30 9.9 PPP2R2B NOP56 ATXN7 ATXN10
28 friedreich ataxia 9.8 PPP2R2B FXN FMR1 ATXN8OS ATXN10
29 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 9.8 NOP56 MBNL1 HNRNPA3 HNRNPA2B1 C9orf72 ATXN10
30 machado-joseph disease 9.8 PPP2R2B ATXN8OS ATXN7 ATXN10
31 fuchs' endothelial dystrophy 9.7 NOP56 MBNL1 DMPK C9orf72 ATXN8OS ATXN10
32 spinocerebellar ataxia 6 9.7 PPP2R2B FXN ATXN8OS ATXN7 ATXN10
33 spinocerebellar ataxia 1 9.6 PPP2R2B FXN FMR1 ATXN8OS ATXN7 ATXN10
34 myotonic disease 9.6 MBNL1 FXN FMR1 DMPK CELF1 C9orf72
35 hereditary ataxia 9.5 PPP2R2B NOP56 FXN ATXN8OS ATXN7 ATXN10
36 parkinson disease, late-onset 9.5 PPP2R2B GRM5 FMR1 ATXN8OS ATXN7 ATXN10
37 spinal and bulbar muscular atrophy, x-linked 1 9.4 PPP2R2B MBNL1 FXN FMR1 DMPK CELF1
38 spinocerebellar ataxia 10 9.3 PPP2R2B NOP56 MBNL1 FXN FMR1 C9orf72
39 cerebellar disease 9.2 PPP2R2B NOP56 MBNL1 FXN FMR1 C9orf72
40 dentatorubral-pallidoluysian atrophy 9.2 PPP2R2B NOP56 MBNL1 FXN FMR1 C9orf72
41 myotonic dystrophy 2 9.1 PURA PPP2R2B NOP56 MBNL1 FXN FMR1
42 fragile x syndrome 9.1 PURA MBNL1 KHDRBS1 HNRNPA2B1 GRM5 FXN
43 huntington disease-like 2 9.0 PURA PPP2R2B NOP56 MBNL1 FMR1 DMPK
44 autosomal dominant cerebellar ataxia 9.0 PPP2R2B NOP56 MBNL1 FXN FMR1 DMPK
45 myotonic dystrophy 1 9.0 PURA PPP2R2B MBNL1 KHDRBS1 FXN FMR1
46 spinocerebellar ataxia 8 8.9 PURA PPP2R2B NOP56 MBNL1 FMR1-AS1 FMR1
47 disease of mental health 8.8 PURA MBNL1 HNRNPA2B1 GRM5 FXN FMR1

Graphical network of the top 20 diseases related to X-Linked Hereditary Ataxia:



Diseases related to X-Linked Hereditary Ataxia

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

Articles related to X-Linked Hereditary Ataxia:

# Title Authors PMID Year
1
X-linked sideroblastic anemia and ataxia: linkage to phosphoglycerate kinase at Xq13. 61
1671320 1991

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 11.49 NOP56 ATXN8OS ATXN10
2 11.3 RBMX KHDRBS1 FMR1 DROSHA DGCR8
3
Show member pathways
10.16 DROSHA DGCR8

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 nucleus GO:0005634 10.21 RBMX PURA NOP56 MBNL1 KHDRBS1 HNRNPA3
2 nucleoplasm GO:0005654 10.06 RBMX NOP56 MBNL1 KHDRBS1 HNRNPA3 HNRNPA2B1
3 cytoplasm GO:0005737 10.06 PURA PPP2R2B NOP56 MBNL1 KHDRBS1 HNRNPA3
4 catalytic step 2 spliceosome GO:0071013 9.58 RBMX HNRNPA3 HNRNPA2B1
5 messenger ribonucleoprotein complex GO:1990124 9.43 HNRNPA3 FMR1
6 microprocessor complex GO:0070877 9.26 DROSHA DGCR8
7 cytoplasmic stress granule GO:0010494 9.26 MBNL1 FMR1 CELF1 C9orf72
8 ribonucleoprotein complex GO:1990904 9.02 RBMX HNRNPA3 HNRNPA2B1 FMR1 CELF1

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

# Name GO ID Score Top Affiliating Genes
1 RNA splicing GO:0008380 9.63 RBMX MBNL1 HNRNPA3 HNRNPA2B1 FMR1 CELF1
2 mRNA transport GO:0051028 9.58 FMR1 HNRNPA2B1 HNRNPA3
3 RNA metabolic process GO:0016070 9.5 HNRNPA2B1 HNRNPA3 RBMX
4 mRNA processing GO:0006397 9.5 RBMX MBNL1 KHDRBS1 HNRNPA3 HNRNPA2B1 FMR1
5 embryo development ending in birth or egg hatching GO:0009792 9.48 CELF1 FXN
6 mRNA splice site selection GO:0006376 9.46 CELF1 RBMX
7 negative regulation of mRNA splicing, via spliceosome GO:0048025 9.43 HNRNPA2B1 RBMX
8 primary miRNA processing GO:0031053 9.43 HNRNPA2B1 DROSHA DGCR8
9 miRNA metabolic process GO:0010586 9.37 DGCR8 DROSHA
10 regulation of alternative mRNA splicing, via spliceosome GO:0000381 9.02 RBMX MBNL1 KHDRBS1 FMR1 CELF1

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

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.95 RBMX KHDRBS1 HNRNPA2B1 GRM5 FMR1 DGCR8
2 nucleic acid binding GO:0003676 9.85 RBMX KHDRBS1 HNRNPA3 HNRNPA2B1 FMR1 CELF1
3 poly(U) RNA binding GO:0008266 9.46 KHDRBS1 FMR1
4 translation initiation factor binding GO:0031369 9.43 FMR1 CELF1
5 double-stranded RNA binding GO:0003725 9.43 MBNL1 DROSHA DGCR8
6 RNA binding GO:0003723 9.36 RBMX PURA NOP56 MBNL1 KHDRBS1 HNRNPA3
7 mRNA binding GO:0003729 9.35 RBMX KHDRBS1 HNRNPA3 FMR1 CELF1
8 translation repressor activity, mRNA regulatory element binding GO:0000900 9.32 PURA CELF1
9 primary miRNA binding GO:0070878 9.16 DROSHA DGCR8

Sources for X-Linked Hereditary Ataxia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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