MCID: ATX029
MIFTS: 45

Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Metabolic diseases categories

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

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Aliases & Descriptions for Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia:

Name: Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia 49 11 65
Aoa1 21 45 22 51 67
Ataxia with Oculomotor Apraxia Type 1 10 21 12
Ataxia-Oculomotor Apraxia 1 45 22 67
Eoca-Ha 45 47 67
Eaoh 45 23 67
Spinocerebellar Ataxia with Axonal Neuropathy Type 2 23 51
Adult Onset Ataxia with Oculomotor Apraxia 23 24
Ataxia-Oculomotor Apraxia Syndrome 45 67
Scar1 23 51
Aoa 45 67
Early-Onset Ataxia with Ocular Motor Apraxia and Hypoalbuminemia 23
Ataxia Early-Onset with Oculomotor Apraxia and Hypoalbuminemia 67
 
Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia 45
Spinocerebellar Ataxia, Recessive, Non-Friedreich Type 1 23
Early-Onset Cerebellar Ataxia with Hypoalbuminemia 45
Cerebellar Ataxia Early-Onset with Hypoalbuminemia 67
Spinocerebellar Ataxia, Autosomal Recessive 1 65
Ataxia-Telangiectasia-Like Syndrome 45
Ataxia - Oculomotor Apraxia Type 1 51
Ataxia - Oculomotor Apraxia Type 2 51
Ataxia with Oculomotor Apraxia 23
Scan 2 51
Scan2 23
Aoa2 51


Classifications:



Characteristics (Orphanet epidemiological data):

51
aoa1:
Inheritance: Autosomal recessive; Age of onset: Childhood
spinocerebellar ataxia with axonal neuropathy type 2:
Inheritance: Autosomal recessive; Age of onset: Childhood


External Ids:

OMIM49 208920
Disease Ontology10 DOID:0050754
Orphanet51 1168, 64753
ICD10 via Orphanet28 G11.3, G60.2
MedGen34 C1859598

Summaries for Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia

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OMIM:49 Ataxia-oculomotor apraxia syndrome is an early-onset autosomal recessive cerebellar ataxia with peripheral axonal... (208920) more...

MalaCards based summary: Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia, also known as aoa1, is related to cerebellar ataxia and spinocerebellar ataxia, autosomal recessive 1, and has symptoms including incoordination, medial flaring of the eyebrow and choreoathetosis. An important gene associated with Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia is APTX (Aprataxin). Affiliated tissues include eye.

Genetics Home Reference:23 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. Most affected people also have oculomotor apraxia, which makes it difficult to move their eyes side-to-side. People with oculomotor apraxia have to turn their head to see things in their side (peripheral) vision.

UniProtKB/Swiss-Prot:67 Ataxia-oculomotor apraxia syndrome: An autosomal recessive syndrome characterized by early-onset cerebellar ataxia, oculomotor apraxia, early areflexia and late peripheral neuropathy.

GeneReviews summary for aoa

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

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

(show top 50)    (show all 78)
idRelated DiseaseScoreTop Affiliating Genes
1cerebellar ataxia30.8APTX, SACS
2spinocerebellar ataxia, autosomal recessive 129.8APTX, PIK3R5, SACS, SETX, TTPA
3ataxias and cerebellar or spinocerebellar degeneration29.2APTX, SACS, SETX, SPTBN2, TTPA
4apraxia10.9
5ataxia10.9
6ataxia-telangiectasia-like disorder10.4
7infertility10.1
8wiskott-aldrich syndrome10.1
9coenzyme q10 deficiency, primary, 110.1
10ataxia-oculomotor apraxia 310.1
11myoclonus10.1
12autosomal dominant nocturnal frontal lobe epilepsy10.0APTX, SETX, TTPA
13alcohol-induced mental disorder10.0APTX, SETX
14immunodeficiency 2010.0
15alpha-fetoprotein deficiency10.0
16immunodeficiency 4010.0
17spinocerebellar ataxia 110.0
18peeling skin syndrome 110.0
19coenzyme q10 deficiency, primary, 310.0
20coenzyme q10 deficiency, primary, 210.0
21immunodeficiency 1010.0
22spinocerebellar ataxia 2010.0
23spinocerebellar ataxia 510.0
24ataxia-telangiectasia10.0
25spinocerebellar ataxia 210.0
26immunodeficiency 910.0
27spinocerebellar ataxia 4010.0
28machado-joseph disease10.0
29peeling skin syndrome 210.0
30exfoliation syndrome10.0
31coenzyme q10 deficiency, primary, 510.0
32peeling skin syndrome 310.0
33ataxia-oculomotor apraxia 410.0
34spinocerebellar ataxia 1010.0
35congestive heart failure10.0
36coenzyme q10 deficiency disease10.0
37foster-kennedy syndrome10.0
38good syndrome10.0
39keratomalacia10.0
40rickets10.0
41peeling skin syndrome10.0
42cogan syndrome10.0
43spiradenoma10.0
44blood protein disease10.0
45central nervous system vasculitis10.0
46cerebellar disease10.0
47complement deficiency10.0
48congenital heart disease10.0
49cranial nerve disease10.0
50eye disease10.0

Graphical network of the top 20 diseases related to Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia:



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

Symptoms for Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia

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Symptoms by clinical synopsis from OMIM:

208920

Clinical features from OMIM:

208920

Symptoms:

 51
  • flared eyebrows
  • functional anomalies of the nervous system
  • abnormal gait
  • ataxia/incoordination/trouble of the equilibrium

HPO human phenotypes related to Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia:

(show all 31)
id Description Frequency HPO Source Accession
1 incoordination hallmark (90%) HP:0002311
2 medial flaring of the eyebrow hallmark (90%) HP:0010747
3 choreoathetosis 79% HP:0001266
4 autosomal recessive inheritance HP:0000007
5 hypometric saccades HP:0000571
6 progressive external ophthalmoplegia HP:0000590
7 gaze-evoked nystagmus HP:0000640
8 oculomotor apraxia HP:0000657
9 peripheral axonal degeneration HP:0000764
10 ataxia HP:0001251
11 dysarthria HP:0001260
12 hyporeflexia HP:0001265
13 mental deterioration HP:0001268
14 cerebellar atrophy HP:0001272
15 areflexia HP:0001284
16 muscle weakness HP:0001324
17 dystonia HP:0001332
18 tremor HP:0001337
19 pes cavus HP:0001761
20 gait ataxia HP:0002066
21 limb ataxia HP:0002070
22 truncal ataxia HP:0002078
23 scoliosis HP:0002650
24 distal sensory impairment HP:0002936
25 hypoalbuminemia HP:0003073
26 hypercholesterolemia HP:0003124
27 decreased number of large peripheral myelinated nerve fibers HP:0003387
28 adult onset HP:0003581
29 juvenile onset HP:0003621
30 distal amyotrophy HP:0003693
31 cognitive impairment HP:0100543

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

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Drugs for Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
GlycerolexperimentalPhase 317656-81-5753
Synonyms:
1,2,3-Trihydroxypropane
Bulbold
Cristal
E 422
Emery 916
Glyceol Opthalgan
Glycerin
Glycerine
Glyceritol
Glycerol
 
Glycyl alcohol
Glyrol
Glysanin
IFP
Incorporation factor
Mackstat H 66
Osmoglyn
Pricerine 9091
Propanetriol
RG-S
Trihydroxypropane
Tryhydroxypropane
2UbiquinonePhase 390
3Phase 3
4Complement System ProteinsPhase 3171
5LecithinNutraceuticalPhase 357
6
Coenzyme Q10NutraceuticalPhase 3101303-98-05281915
Synonyms:
(all-E)-2,3-dimethoxy-5-methyl-6-(3,7,11,15,19,23,27,31-octamethyl-2,6,10,14,18,22,26,30-dotriacontaoctaenyl)-2,5-Cyclohexadiene-1,4-dione
(all-E)-2-(3,7,11,15,19,23,27,31,35,39-decamethyl-2,6,10,14,18,22,26,30,34,38-tetracontadecaenyl)-5,6-dimethoxy-3-methyl-2,5-Cyclohexadiene-1,4-dione
2-(3,7,11,15,19,23,27,31,35,39-Decamethyl-2,6,10,14,18,22,26,30,34,38-tetracontadecaenyl)-5,6-dimethoxy-3-methyl-p-Benzoquinone
2-[(2E,6E,10E,14E,18E,22E,26E,30E,34E)-3,7,11,15,19,23,27,31,35,39-Decamethyl-2,6,10,14,18,22,26,30,34,38-tetracontadecaenyl]-5,6-dimethoxy-3-methyl- 2,5-Cyclohexadiene-1,4-dione
4-Ethyl-5-fluoropyrimidine
Aqua Q 10L10
Aqua Q10
Bio-Quinon
Bio-Quinone Q10
CoQ10
Coenzyme Q10
Ensorb
Kaneka Q10
Kudesan
 
Li-Q-Sorb
Liquid-Q
Neuquinon
Neuquinone
PureSorb Q 40
Q 10AA
Q-Gel
Q-Gel 100
Ubidecarenone
Ubiquinone 10
Ubiquinone 50
Ubiquinone Q10
Ubiquinone-10
Unbiquinone
Unispheres Q 10

Interventional clinical trials:

idNameStatusNCT IDPhase
1Evolution of Albumin on AOA1 Patients Supplemented With Coenzyme Q10Active, not recruitingNCT02333305Phase 3

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

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

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Genetic tests related to Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia:

id Genetic test Affiliating Genes
1 Ataxia with Oculomotor Apraxia 122 APTX
2 Adult Onset Ataxia with Oculomotor Apraxia24

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

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

33
Eye

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

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MGI Mouse Phenotypes related to Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

Publications for Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia

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

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UniProtKB/Swiss-Prot genetic disease variations for Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia:

67
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

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

5 (show all 25)
id Gene Variation Type Significance SNP ID Assembly Location
1SETXNM_015046.5(SETX): c.5821_5830delGCAATAGAAA (p.Ala1941Leufs)deletionPathogenicrs797045067GRCh38Chr 9, 132297006: 132297015
2SETXNM_015046.5(SETX): c.6038T> G (p.Val2013Gly)single nucleotide variantLikely pathogenicrs797045068GRCh38Chr 9, 132295940: 132295940
3SETXNM_015046.5(SETX): c.5816_5830delAGAAAGCAATAGAAAinsAGAAA (p.Ala1941Leufs)indelPathogenicGRCh37Chr 9, 135172393: 135172407
4SETXNM_015046.5(SETX): c.7149_7151delTTGinsAT (p.Asp2383Glufs)indelLikely pathogenicGRCh37Chr 9, 135147145: 135147147
5SETXNM_015046.5(SETX): c.4087C> T (p.Arg1363Ter)single nucleotide variantPathogenicrs121434376GRCh37Chr 9, 135202898: 135202898
6SETXNM_015046.5(SETX): c.2602C> T (p.Gln868Ter)single nucleotide variantPathogenicrs121434377GRCh37Chr 9, 135204383: 135204383
7SETXNM_015046.5(SETX): c.6638C> T (p.Pro2213Leu)single nucleotide variantPathogenicrs28940290GRCh37Chr 9, 135156870: 135156870
8SETXNM_015046.5(SETX): c.2967_2971delGAAAG (p.Arg989Serfs)deletionPathogenicrs587776536GRCh37Chr 9, 135204014: 135204018
9SETXNM_015046.5(SETX): c.994C> T (p.Arg332Trp)single nucleotide variantPathogenicrs29001665GRCh37Chr 9, 135206680: 135206680
10SETXNM_015046.5(SETX): c.5927T> G (p.Leu1976Arg)single nucleotide variantPathogenicrs121434379GRCh37Chr 9, 135172296: 135172296
11SETXNM_015046.5(SETX): c.1807A> G (p.Asn603Asp)single nucleotide variantPathogenicrs116205032GRCh37Chr 9, 135205178: 135205178
12SETXNM_015046.5(SETX): c.822G> Hsingle nucleotide variantPathogenicGRCh37Chr 9, 135210011: 135210011
13SETXNM_015046.5(SETX): c.5929C> T (p.Leu1977Phe)single nucleotide variantPathogenicrs121434380GRCh37Chr 9, 135172294: 135172294
14SETXNM_015046.5(SETX): c.1027G> T (p.Glu343Ter)single nucleotide variantPathogenicrs121434381GRCh37Chr 9, 135206510: 135206510
15SETXNM_015046.5(SETX): c.343_345delCTT (p.Leu115del)deletionPathogenicrs587776537GRCh37Chr 9, 135221691: 135221693
16APTXNM_175073.2(APTX): c.689dupT (p.Glu232Glyfs)duplicationPathogenicrs587776593GRCh37Chr 9, 32984710: 32984710
17APTXNM_175073.2(APTX): c.617C> T (p.Pro206Leu)single nucleotide variantPathogenicrs121908131GRCh37Chr 9, 32984782: 32984782
18APTXNM_175073.2(APTX): c.840delT (p.Ser281Leufs)deletionPathogenicrs587776594GRCh37Chr 9, 32974490: 32974490
19APTXNM_175073.2(APTX): c.788T> G (p.Val263Gly)single nucleotide variantPathogenicrs121908132GRCh37Chr 9, 32974542: 32974542
20APTXNM_175073.2(APTX): c.602A> G (p.His201Arg)single nucleotide variantPathogenicrs121908133GRCh37Chr 9, 32984797: 32984797
21APTXAPTX, IVS7AS, G-A, -1single nucleotide variantPathogenic
22APTXNM_175073.2(APTX): c.837G> A (p.Trp279Ter)single nucleotide variantPathogenicrs104894103GRCh37Chr 9, 32974493: 32974493
23APTXNC_000009.12: g.(?_32973498)_(33001604_?)deldeletionPathogenicGRCh38Chr 9, 32973498: 33001604
24APTXNM_175073.2(APTX): c.668T> C (p.Leu223Pro)single nucleotide variantPathogenicrs267606665GRCh37Chr 9, 32984731: 32984731
25PIK3R5NM_001142633.2(PIK3R5): c.1885C> T (p.Pro629Ser)single nucleotide variantPathogenicrs61761068GRCh37Chr 17, 8790433: 8790433

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

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

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

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

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Cellular components related to Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1nucleusGO:00056346.7APTX, DCPS, HINT1, PIK3R5, PNKP, POLB
2cytoplasmGO:00057376.7APTX, DCPS, HINT1, PIK3R5, POLB, SACS

Biological processes related to Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1polynucleotide 3 dephosphorylationGO:009850610.1APTX, PNKP
2DNA-dependent DNA replicationGO:00062619.6PNKP, POLB
3nucleic acid phosphodiester bond hydrolysisGO:00903059.6APTX, PNKP
4base-excision repairGO:00062849.3PNKP, POLB
5cellular response to DNA damage stimulusGO:00069749.2APTX, POLB, SETX
6DNA repairGO:00062818.7APTX, PNKP, POLB

Molecular functions related to Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1polynucleotide 3-phosphatase activityGO:004640310.1APTX, PNKP
2damaged DNA bindingGO:00036849.0APTX, PNKP, POLB
3catalytic activityGO:00038248.9APTX, DCPS, HINT1

Sources for Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet