MCID: ATS074
MIFTS: 13

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 59
Mild Peroxismal Disorder Due to Pex10 Deficiency 59

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive ataxia due to pex10 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Orphanet 59 ORPHA247815
ICD10 via Orphanet 34 G11.8

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:

59 32 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 progressive cerebellar ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002073
2 motor axonal neuropathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0007002
3 intellectual disability, mild 59 32 frequent (33%) Frequent (79-30%) HP:0001256
4 dysarthria 59 32 frequent (33%) Frequent (79-30%) HP:0001260
5 limb ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0002070
6 truncal ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0002078
7 progressive gait ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0007240
8 abnormal pyramidal signs 59 32 frequent (33%) Frequent (79-30%) HP:0007256
9 impaired smooth pursuit 59 32 frequent (33%) Frequent (79-30%) HP:0007772
10 very long chain fatty acid accumulation 59 32 frequent (33%) Frequent (79-30%) HP:0008167
11 abnormality of phytanic acid metabolism 59 32 frequent (33%) Frequent (79-30%) HP:0010965
12 diffuse cerebellar atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0100275
13 hyperreflexia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001347
14 abnormal head movements 59 32 occasional (7.5%) Occasional (29-5%) HP:0002457
15 type ii diabetes mellitus 59 32 occasional (7.5%) Occasional (29-5%) HP:0005978
16 mydriasis 59 32 occasional (7.5%) Occasional (29-5%) HP:0011499
17 pes cavus 59 32 very rare (1%) Very rare (<4-1%) HP:0001761
18 oculomotor apraxia 59 Excluded (0%)
19 global developmental delay 59 Excluded (0%)

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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62 PubMed
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
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74 UMLS via Orphanet
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