MCID: ATS112
MIFTS: 6

Autosomal Recessive Cerebellar Ataxia with Late-Onset Spasticity

Categories: Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Autosomal Recessive Cerebellar Ataxia with Late-Onset Spasticity

MalaCards integrated aliases for Autosomal Recessive Cerebellar Ataxia with Late-Onset Spasticity:

Name: Autosomal Recessive Cerebellar Ataxia with Late-Onset Spasticity 59
Autosomal Recessive Cerebellar Ataxia Due to Gba2 Deficiency 59

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive cerebellar ataxia with late-onset spasticity
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

Classifications:



External Ids:

Orphanet 59 ORPHA352641
ICD10 via Orphanet 34 G11.8

Summaries for Autosomal Recessive Cerebellar Ataxia with Late-Onset Spasticity

MalaCards based summary : Autosomal Recessive Cerebellar Ataxia with Late-Onset Spasticity, is also known as autosomal recessive cerebellar ataxia due to gba2 deficiency. An important gene associated with Autosomal Recessive Cerebellar Ataxia with Late-Onset Spasticity is GBA2 (Glucosylceramidase Beta 2).

Related Diseases for Autosomal Recessive Cerebellar Ataxia with Late-Onset Spasticity

Symptoms & Phenotypes for Autosomal Recessive Cerebellar Ataxia with Late-Onset Spasticity

Drugs & Therapeutics for Autosomal Recessive Cerebellar Ataxia with Late-Onset Spasticity

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Autosomal Recessive Cerebellar Ataxia with Late-Onset Spasticity

Genetic Tests for Autosomal Recessive Cerebellar Ataxia with Late-Onset Spasticity

Anatomical Context for Autosomal Recessive Cerebellar Ataxia with Late-Onset Spasticity

Publications for Autosomal Recessive Cerebellar Ataxia with Late-Onset Spasticity

Variations for Autosomal Recessive Cerebellar Ataxia with Late-Onset Spasticity

Expression for Autosomal Recessive Cerebellar Ataxia with Late-Onset Spasticity

Search GEO for disease gene expression data for Autosomal Recessive Cerebellar Ataxia with Late-Onset Spasticity.

Pathways for Autosomal Recessive Cerebellar Ataxia with Late-Onset Spasticity

GO Terms for Autosomal Recessive Cerebellar Ataxia with Late-Onset Spasticity

Sources for Autosomal Recessive Cerebellar Ataxia with Late-Onset Spasticity

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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