MCID: ATS112
MIFTS: 15

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 60
Autosomal Recessive Cerebellar Ataxia Due to Gba2 Deficiency 60

Characteristics:

Orphanet epidemiological data:

60
autosomal recessive cerebellar ataxia with late-onset spasticity
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

Classifications:



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:

60 33 (showing 27, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 babinski sign 60 33 hallmark (90%) Very frequent (99-80%) HP:0003487
2 progressive cerebellar ataxia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002073
3 nystagmus 60 33 frequent (33%) Frequent (79-30%) HP:0000639
4 dysphagia 60 33 frequent (33%) Frequent (79-30%) HP:0002015
5 gait ataxia 60 33 frequent (33%) Frequent (79-30%) HP:0002066
6 impaired proprioception 60 33 frequent (33%) Frequent (79-30%) HP:0010831
7 brisk reflexes 60 33 frequent (33%) Frequent (79-30%) HP:0001348
8 lower limb spasticity 60 33 frequent (33%) Frequent (79-30%) HP:0002061
9 peripheral axonal neuropathy 60 33 frequent (33%) Frequent (79-30%) HP:0003477
10 sensorimotor neuropathy 60 33 frequent (33%) Frequent (79-30%) HP:0007141
11 spastic dysarthria 60 33 frequent (33%) Frequent (79-30%) HP:0002464
12 abnormal saccadic eye movements 33 frequent (33%) HP:0000570
13 scoliosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002650
14 sensorineural hearing impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000407
15 pes cavus 60 33 occasional (7.5%) Occasional (29-5%) HP:0001761
16 impaired vibration sensation in the lower limbs 60 33 occasional (7.5%) Occasional (29-5%) HP:0002166
17 urinary incontinence 60 33 occasional (7.5%) Occasional (29-5%) HP:0000020
18 head tremor 60 33 occasional (7.5%) Occasional (29-5%) HP:0002346
19 cerebral atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0002059
20 distal amyotrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0003693
21 intellectual disability, mild 60 33 very rare (1%) Very rare (<4-1%) HP:0001256
22 truncal ataxia 60 33 very rare (1%) Very rare (<4-1%) HP:0002078
23 spasticity 60 Very frequent (99-80%)
24 abnormal pyramidal sign 60 Frequent (79-30%)
25 abnormality of saccadic eye movements 60 Frequent (79-30%)
26 vitamin a deficiency 60 Excluded (0%)
27 vitamin e deficiency 60 Excluded (0%)

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

Interventional clinical trials:

(showing 1, show less)
# 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

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

42
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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....