MCID: ATS112
MIFTS: 11

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:

ICD10 via Orphanet 34 G11.8
Orphanet 59 ORPHA352641

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:

59 32 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 babinski sign 59 32 hallmark (90%) Very frequent (99-80%) HP:0003487
2 progressive cerebellar ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002073
3 nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000639
4 dysphagia 59 32 frequent (33%) Frequent (79-30%) HP:0002015
5 gait ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0002066
6 impaired proprioception 59 32 frequent (33%) Frequent (79-30%) HP:0010831
7 sensorimotor neuropathy 59 32 frequent (33%) Frequent (79-30%) HP:0007141
8 brisk reflexes 59 32 frequent (33%) Frequent (79-30%) HP:0001348
9 lower limb spasticity 59 32 frequent (33%) Frequent (79-30%) HP:0002061
10 peripheral axonal neuropathy 59 32 frequent (33%) Frequent (79-30%) HP:0003477
11 spastic dysarthria 59 32 frequent (33%) Frequent (79-30%) HP:0002464
12 abnormal saccadic eye movements 32 frequent (33%) HP:0000570
13 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
14 sensorineural hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000407
15 pes cavus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001761
16 distal amyotrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0003693
17 impaired vibration sensation in the lower limbs 59 32 occasional (7.5%) Occasional (29-5%) HP:0002166
18 urinary incontinence 59 32 occasional (7.5%) Occasional (29-5%) HP:0000020
19 head tremor 59 32 occasional (7.5%) Occasional (29-5%) HP:0002346
20 cerebral atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0002059
21 intellectual disability, mild 59 32 very rare (1%) Very rare (<4-1%) HP:0001256
22 truncal ataxia 59 32 very rare (1%) Very rare (<4-1%) HP:0002078
23 spasticity 59 Very frequent (99-80%)
24 abnormal pyramidal sign 59 Frequent (79-30%)
25 abnormality of saccadic eye movements 59 Frequent (79-30%)
26 vitamin a deficiency 59 Excluded (0%)
27 vitamin e deficiency 59 Excluded (0%)

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:

41
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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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