AOA
MCID: ERL008
MIFTS: 29

Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia (AOA) malady

Neuronal, Eye, Skin, Metabolic, Blood, Cancer, Ear categories

Summaries for Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia

Sources:
21Genetics Home Reference, 47OMIM, 33MalaCards
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Genetics Home Reference:21 Ataxia with oculomotor apraxia is a condition characterized by progressive problems with movement. The hallmark of this condition is difficulty coordinating movements (ataxia), which is often the first symptom. About half of affected people have trouble moving their eyes to look side-to-side (oculomotor apraxia). People with oculomotor apraxia have to turn their head to see things in their side (peripheral) vision.

MalaCards: Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia, also known as ataxia-telangiectasia-like syndrome, is related to apraxia and ataxia telangiectasia, and has symptoms including abnormal gait, ataxia/incoordination/trouble of the equilibrium and functional anomalies of the nervous system. An important gene associated with Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia is APTX (aprataxin).

Description from OMIM:47 208920,604391

Aliases & Classifications for Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia

Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 45Novoseek, 49Orphanet, 61UMLS, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Cancer
Anatomical: Neuronal, Eye, Skin, Metabolic, Blood, Ear


Characteristics (Orphanet epidemiological data):

49
aoa1:
Inheritance: Autosomal recessive; Age of onset: Childhood
ataxia-telangiectasia-like disorder:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

early-onset ataxia with oculomotor apraxia and hypoalbuminemia 43
ataxia-telangiectasia-like syndrome 43 20 22
ataxia-telangiectasia-like disorder 47 45 49
ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 47 61
ataxia-oculomotor apraxia 1 43 20
aoa1 43 49
early-onset ataxia with ocular motor apraxia and hypoalbuminemia 21
spinocerebellar ataxia, recessive, non-friedreich type 1 21
spinocerebellar ataxia with axonal neuropathy type 2 21
spinocerebellar ataxia, autosomal recessive 1 61
adult onset ataxia with oculomotor apraxia 21
ataxia-oculomotor apraxia syndrome 43
ataxia - oculomotor apraxia type 1 49
ataxia with oculomotor apraxia 21
scan2 21
scar1 21
eaoh 21
atld 49
aoa 43


External Ids:

ICD10 via Orphanet26 G11.3

Related Diseases for Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia

Sources:
17GeneCards, 18GeneDecks
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Graphical network of diseases related to Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia:



Diseases related to early-onset ataxia with oculomotor apraxia and hypoalbuminemia

Clinical Features for Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

208920,604391

Clinical synopsis from OMIM:

208920

Symptoms:

49 (see all 4)
  • abnormal gait
  • ataxia/incoordination/trouble of the equilibrium
  • functional anomalies of the nervous system
  • flared eyebrows

Drugs & Therapeutics for Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia

Drug clinical trials:

Search ClinicalTrials for Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia

Search NIH Clinical Center for Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia

Search CenterWatch for Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia

Genetic Tests for Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia

Sources:
20GeneTests, 22GTR
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Genetic tests related to Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia:

id Genetic test Affiliating Genes
1 Ataxia-telangiectasia-like Disorder20 22 MRE11A
2 Ataxia With Oculomotor Apraxia 120 APTX

Anatomical Context for Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia

Animal Models for Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia

Genetic Variations for Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia:

63
id Symbol AA change Variation SNP ID
1APTXp.Lys211GlnVAR_018794
2APTXp.Ala212ValVAR_018795
3APTXp.Arg213HisVAR_018796rs150886026
4APTXp.His215ArgVAR_018797
5APTXp.Pro220LeuVAR_018798
6APTXp.Val277GlyVAR_018799
7APTXp.Asp281GlyVAR_018800
8APTXp.Trp293ArgVAR_018801
9APTXp.Leu237ProVAR_025365
10MRE11Ap.Asn117SerVAR_008513

Expression for genes affiliated with Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia

Search GEO for disease gene expression data for Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia.

Pathways for genes affiliated with Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia

Compounds for genes affiliated with Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia

GO Terms for genes affiliated with Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia

Sources:
16Gene Ontology
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Cellular components related to Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nucleolusGO:0057309.1APTX, MRE11A
2nucleoplasmGO:0056548.8APTX, MRE11A

Biological processes related to Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1response to DNA damage stimulusGO:0069749.1APTX, MRE11A
2double-strand break repairGO:0063028.8APTX, MRE11A

Molecular functions related to Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1double-stranded DNA bindingGO:0036909.1APTX, MRE11A

Products for genes affiliated with Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet