MCID: ATS074
MIFTS: 11

Autosomal Recessive Ataxia Due to Pex10 Deficiency

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Autosomal Recessive Ataxia Due to Pex10 Deficiency

MalaCards integrated aliases for Autosomal Recessive Ataxia Due to Pex10 Deficiency:

Name: Autosomal Recessive Ataxia Due to Pex10 Deficiency 58
Mild Peroxisomal Disorder Due to Pex10 Deficiency 58

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive ataxia due to pex10 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 33 G11.8
Orphanet 58 ORPHA247815

Summaries for Autosomal Recessive Ataxia Due to Pex10 Deficiency

MalaCards based summary : Autosomal Recessive Ataxia Due to Pex10 Deficiency, is also known as mild peroxisomal disorder due to pex10 deficiency. An important gene associated with Autosomal Recessive Ataxia Due to Pex10 Deficiency is PEX10 (Peroxisomal Biogenesis Factor 10). Related phenotypes are motor axonal neuropathy and progressive cerebellar ataxia

Related Diseases for Autosomal Recessive Ataxia Due to Pex10 Deficiency

Symptoms & Phenotypes for Autosomal Recessive Ataxia Due to Pex10 Deficiency

Human phenotypes related to Autosomal Recessive Ataxia Due to Pex10 Deficiency:

58 31 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 motor axonal neuropathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0007002
2 progressive cerebellar ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002073
3 abnormal pyramidal sign 58 31 frequent (33%) Frequent (79-30%) HP:0007256
4 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
5 intellectual disability, mild 58 31 frequent (33%) Frequent (79-30%) HP:0001256
6 very long chain fatty acid accumulation 58 31 frequent (33%) Frequent (79-30%) HP:0008167
7 progressive gait ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0007240
8 limb ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002070
9 truncal ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002078
10 diffuse cerebellar atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0100275
11 impaired smooth pursuit 58 31 frequent (33%) Frequent (79-30%) HP:0007772
12 abnormal circulating phytanic acid concentration 31 frequent (33%) HP:0010965
13 hyperreflexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001347
14 type ii diabetes mellitus 58 31 occasional (7.5%) Occasional (29-5%) HP:0005978
15 mydriasis 58 31 occasional (7.5%) Occasional (29-5%) HP:0011499
16 abnormal head movements 58 31 occasional (7.5%) Occasional (29-5%) HP:0002457
17 pes cavus 58 31 very rare (1%) Very rare (<4-1%) HP:0001761
18 global developmental delay 58 Excluded (0%)
19 oculomotor apraxia 58 Excluded (0%)
20 abnormality of phytanic acid metabolism 58 Frequent (79-30%)

Drugs & Therapeutics for Autosomal Recessive Ataxia Due to Pex10 Deficiency

Search Clinical Trials , NIH Clinical Center for Autosomal Recessive Ataxia Due to Pex10 Deficiency

Genetic Tests for Autosomal Recessive Ataxia Due to Pex10 Deficiency

Anatomical Context for Autosomal Recessive Ataxia Due to Pex10 Deficiency

Publications for Autosomal Recessive Ataxia Due to Pex10 Deficiency

Variations for Autosomal Recessive Ataxia Due to Pex10 Deficiency

Expression for Autosomal Recessive Ataxia Due to Pex10 Deficiency

Search GEO for disease gene expression data for Autosomal Recessive Ataxia Due to Pex10 Deficiency.

Pathways for Autosomal Recessive Ataxia Due to Pex10 Deficiency

GO Terms for Autosomal Recessive Ataxia Due to Pex10 Deficiency

Sources for Autosomal Recessive Ataxia Due to Pex10 Deficiency

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....