AOA
MCID: ERL008
MIFTS: 38

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

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Skin diseases, Blood diseases, Cancer diseases categories

Summaries for Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia

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48OMIM, 34MalaCards
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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). Affiliated tissues include skin and eye.

Description from OMIM:48 208920,604391

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

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44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 48OMIM, 46Novoseek, 50Orphanet, 63UMLS, 27ICD10 via Orphanet, 64UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
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 44
ataxia-telangiectasia-like syndrome 44 21 23
ataxia-telangiectasia-like disorder 48 46 50
ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 48 63
ataxia-oculomotor apraxia 1 44 21
eoca-ha 44 46
eaoh 44 22
aoa1 44 50
early-onset ataxia with ocular motor apraxia and hypoalbuminemia 22
spinocerebellar ataxia, recessive, non-friedreich type 1 22
spinocerebellar ataxia with axonal neuropathy type 2 22
early-onset cerebellar ataxia with hypoalbuminemia 44
spinocerebellar ataxia, autosomal recessive 1 63
adult onset ataxia with oculomotor apraxia 22
ataxia-oculomotor apraxia syndrome 44
ataxia - oculomotor apraxia type 1 50
ataxia with oculomotor apraxia 22
scar1 22
scan2 22
atld 50
aoa 44


External Ids:

ICD10 via Orphanet27 G11.3
UMLS via Orphanet64 C1859598

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

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18GeneCards, 19GeneDecks
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Diseases related to Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 13)
idRelated DiseaseScoreTop Affiliating Genes
1apraxia30.4APTX, MRE11A
2ataxia telangiectasia30.3APTX, MRE11A
3ataxia with oculomotor apraxia type 210.9
4ataxia10.3
5ocular motor apraxia, cogan type10.3
6adenocarcinoma10.2
7lung adenocarcinoma10.2
8cerebellar degeneration10.2
9cerebellar ataxia10.2
10ataxia with oculomotor apraxia type 110.2
11wiskott-aldrich syndrome10.1
12spinocerebellar ataxia autosomal recessive 110.1
13coenzyme q10 deficiency, primary, 110.0

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

Symptoms for Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

208920

Clinical features from OMIM:

208920,604391

Symptoms:

50
  • 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

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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

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21GeneTests, 23GTR
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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 Disorder21 23 MRE11A
2 Ataxia with Oculomotor Apraxia 121 APTX

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

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34MalaCards
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MalaCards organs/tissues related to Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia:

34
Skin, Eye

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

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Publications for Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia

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Variations for Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia:

65
id Symbol AA change Variation ID 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

Clinvar genetic disease variations for Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia:

1 (show all 23)
id Gene Name Type Significance SNP ID Assembly Location
1SETXNM_015046.5(SETX): c.4087C> T (p.Arg1363Ter)single nucleotide variantPathogenicrs121434376GRCh37Chr 9, 135202898: 135202898
2SETXNM_015046.5(SETX): c.2602C> T (p.Gln868Ter)single nucleotide variantPathogenicrs121434377GRCh37Chr 9, 135204383: 135204383
3SETXNM_015046.5(SETX): c.6638C> T (p.Pro2213Leu)single nucleotide variantPathogenicrs28940290GRCh37Chr 9, 135156870: 135156870
4SETXNM_015046.5(SETX): c.2967_2971delGAAAG (p.Arg989Serfs)deletionPathogenicGRCh37Chr 9, 135204014: 135204018
5SETXNM_015046.5(SETX): c.994C> T (p.Arg332Trp)single nucleotide variantPathogenicrs29001665GRCh37Chr 9, 135206680: 135206680
6SETXNM_015046.5(SETX): c.5927T> G (p.Leu1976Arg)single nucleotide variantPathogenicrs121434379GRCh37Chr 9, 135172296: 135172296
7SETXNM_015046.5(SETX): c.5929C> T (p.Leu1977Phe)single nucleotide variantPathogenicrs121434380GRCh37Chr 9, 135172294: 135172294
8SETXNM_015046.5(SETX): c.1027G> T (p.Glu343Ter)single nucleotide variantPathogenicrs121434381GRCh37Chr 9, 135206510: 135206510
9SETXNM_015046.5(SETX): c.343_345delCTT (p.Leu115del)deletionPathogenicGRCh37Chr 9, 135221691: 135221693
10APTXNM_175073.2(APTX): c.689dupT (p.Glu232Glyfs)duplicationPathogenicGRCh37Chr 9, 32984710: 32984710
11APTXNM_175073.2(APTX): c.617C> T (p.Pro206Leu)single nucleotide variantPathogenicrs121908131GRCh37Chr 9, 32984782: 32984782
12APTXNM_175073.2(APTX): c.840delT (p.Ser281Leufs)deletionPathogenicGRCh37Chr 9, 32974490: 32974490
13APTXNM_175073.2(APTX): c.788T> G (p.Val263Gly)single nucleotide variantPathogenicrs121908132GRCh37Chr 9, 32974542: 32974542
14APTXNM_175073.2(APTX): c.602A> G (p.His201Arg)single nucleotide variantPathogenicrs121908133GRCh37Chr 9, 32984797: 32984797
15APTXAPTX, IVS7AS, G-A, -1single nucleotide variantPathogenic
16APTXNM_175073.2(APTX): c.837G> A (p.Trp279Ter)single nucleotide variantPathogenicrs104894103GRCh37Chr 9, 32974493: 32974493
17APTXNC_000009.12: g.(?_32973498)_(33001604_?)deldeletionPathogenicGRCh38Chr 9, 32973498: 33001604
18APTXNM_175073.2(APTX): c.668T> C (p.Leu223Pro)single nucleotide variantPathogenicrs267606665GRCh37Chr 9, 32984731: 32984731
19MRE11ANM_005591.3(MRE11A): c.1897C> T (p.Arg633Ter)single nucleotide variantPathogenicrs137852759GRCh37Chr 11, 94170372: 94170372
20MRE11ANM_005591.3(MRE11A): c.350A> G (p.Asn117Ser)single nucleotide variantPathogenic, Uncertain significancers137852760GRCh37Chr 11, 94212892: 94212892
21MRE11ANM_005591.3(MRE11A): c.1714C> T (p.Arg572Ter)single nucleotide variantPathogenicrs137852761GRCh37Chr 11, 94180454: 94180454
22MRE11ANM_005591.3(MRE11A): c.1442C> A (p.Thr481Lys)single nucleotide variantPathogenicrs137852762GRCh37Chr 11, 94192632: 94192632
23MRE11ANM_005591.3(MRE11A): c.630G> C (p.Trp210Cys)single nucleotide variantPathogenicrs137852763GRCh37Chr 11, 94209484: 94209484

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

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2BioGPS, 16Gene 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

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

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

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17Gene 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
1cellular response 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

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Sources for Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet