MCID: ATS112
MIFTS: 13

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 58
Autosomal Recessive Cerebellar Ataxia Due to Gba2 Deficiency 58

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive cerebellar ataxia with late-onset spasticity
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


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). Affiliated tissues include eye, and related phenotypes are babinski sign and progressive cerebellar ataxia

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

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

Human phenotypes related to Autosomal Recessive Cerebellar Ataxia with Late-Onset Spasticity:

58 31 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 babinski sign 58 31 hallmark (90%) Very frequent (99-80%) HP:0003487
2 progressive cerebellar ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002073
3 dysphagia 58 31 frequent (33%) Frequent (79-30%) HP:0002015
4 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
5 gait ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002066
6 impaired proprioception 58 31 frequent (33%) Frequent (79-30%) HP:0010831
7 lower limb spasticity 58 31 frequent (33%) Frequent (79-30%) HP:0002061
8 brisk reflexes 58 31 frequent (33%) Frequent (79-30%) HP:0001348
9 sensorimotor neuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0007141
10 spastic dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0002464
11 peripheral axonal neuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0003477
12 abnormal saccadic eye movements 31 frequent (33%) HP:0000570
13 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
14 sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000407
15 pes cavus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001761
16 distal amyotrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003693
17 head tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0002346
18 cerebral atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002059
19 urinary incontinence 58 31 occasional (7.5%) Occasional (29-5%) HP:0000020
20 impaired vibration sensation in the lower limbs 58 31 occasional (7.5%) Occasional (29-5%) HP:0002166
21 intellectual disability, mild 58 31 very rare (1%) Very rare (<4-1%) HP:0001256
22 truncal ataxia 58 31 very rare (1%) Very rare (<4-1%) HP:0002078
23 abnormal pyramidal sign 58 Frequent (79-30%)
24 spasticity 58 Very frequent (99-80%)
25 low levels of vitamin e 58 Excluded (0%)
26 low levels of vitamin a 58 Excluded (0%)
27 abnormality of saccadic eye movements 58 Frequent (79-30%)

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

Search Clinical Trials , 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

MalaCards organs/tissues related to Autosomal Recessive Cerebellar Ataxia with Late-Onset Spasticity:

40
Eye

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 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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