MCID: ATS074
MIFTS: 12

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 60
Mild Peroxismal Disorder Due to Pex10 Deficiency 60

Characteristics:

Orphanet epidemiological data:

60
autosomal recessive ataxia due to pex10 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 35 G11.8
Orphanet 60 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 peroxismal 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 progressive cerebellar ataxia and motor axonal neuropathy

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:

60 33 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 progressive cerebellar ataxia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002073
2 motor axonal neuropathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0007002
3 dysarthria 60 33 frequent (33%) Frequent (79-30%) HP:0001260
4 abnormal pyramidal sign 60 33 frequent (33%) Frequent (79-30%) HP:0007256
5 intellectual disability, mild 60 33 frequent (33%) Frequent (79-30%) HP:0001256
6 limb ataxia 60 33 frequent (33%) Frequent (79-30%) HP:0002070
7 truncal ataxia 60 33 frequent (33%) Frequent (79-30%) HP:0002078
8 progressive gait ataxia 60 33 frequent (33%) Frequent (79-30%) HP:0007240
9 impaired smooth pursuit 60 33 frequent (33%) Frequent (79-30%) HP:0007772
10 very long chain fatty acid accumulation 60 33 frequent (33%) Frequent (79-30%) HP:0008167
11 diffuse cerebellar atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0100275
12 abnormal circulating phytanic acid level 33 frequent (33%) HP:0010965
13 hyperreflexia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001347
14 type ii diabetes mellitus 60 33 occasional (7.5%) Occasional (29-5%) HP:0005978
15 mydriasis 60 33 occasional (7.5%) Occasional (29-5%) HP:0011499
16 abnormal head movements 60 33 occasional (7.5%) Occasional (29-5%) HP:0002457
17 pes cavus 60 33 very rare (1%) Very rare (<4-1%) HP:0001761
18 global developmental delay 60 Excluded (0%)
19 oculomotor apraxia 60 Excluded (0%)
20 abnormality of phytanic acid metabolism 60 Frequent (79-30%)

Drugs & Therapeutics for Autosomal Recessive Ataxia Due to Pex10 Deficiency

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 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

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70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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