MCID: ATX029
MIFTS: 42

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

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Metabolic diseases

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 51 12 67
Aoa1 23 47 24 53 69
Ataxia with Oculomotor Apraxia Type 1 11 23 13
Eoca-Ha 47 69 49
Eaoh 47 25 69
Adult Onset Ataxia with Oculomotor Apraxia 25 26
Ataxia-Oculomotor Apraxia Type 1 47 53
Ataxia-Oculomotor Apraxia 1 47 69
Early-Onset Ataxia with Ocular Motor Apraxia and Hypoalbuminemia 25
Ataxia Early-Onset with Oculomotor Apraxia and Hypoalbuminemia 69
Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia 47
Spinocerebellar Ataxia, Recessive, Non-Friedreich Type 1 25
 
Spinocerebellar Ataxia with Axonal Neuropathy Type 2 25
Early-Onset Cerebellar Ataxia with Hypoalbuminemia 47
Cerebellar Ataxia Early-Onset with Hypoalbuminemia 69
Spinocerebellar Ataxia, Autosomal Recessive 1 67
Ataxia-Telangiectasia-Like Syndrome 47
Ataxia-Oculomotor Apraxia Syndrome 69
Ataxia with Oculomotor Apraxia I 24
Ataxia with Oculomotor Apraxia 1 24
Ataxia with Oculomotor Apraxia 25
Scan2 25
Scar1 25
Aoa 69

Characteristics:

Orphanet epidemiological data:

53
aoa1:
Inheritance: Autosomal recessive; Age of onset: Childhood

HPO:

63
ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia:
Inheritance: autosomal recessive inheritance
Onset and clinical course: adult onset, juvenile onset

Classifications:



External Ids:

OMIM51 208920
Disease Ontology11 DOID:0050754
Orphanet53 ORPHA1168
ICD10 via Orphanet30 G11.3
MedGen36 C1859598
ICD1029 G11.1

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

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OMIM:51 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 spinocerebellar ataxia with axonal neuropathy type 2 and ocular motor apraxia, 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, and related mouse phenotype homeostasis/metabolism.

Genetics Home Reference:25 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:69 Ataxia-oculomotor apraxia syndrome: An autosomal recessive syndrome characterized by early-onset cerebellar ataxia, oculomotor apraxia, early areflexia and late peripheral neuropathy.

GeneReviews for NBK1456

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

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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

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

 63 53 (show all 31)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 incoordination63 hallmark (90%) HP:0002311
2 medial flaring of the eyebrow63 53 hallmark (90%) Very frequent (99-80%) HP:0010747
3 choreoathetosis63 79% HP:0001266
4 hypometric saccades63 HP:0000571
5 progressive external ophthalmoplegia63 HP:0000590
6 gaze-evoked nystagmus63 HP:0000640
7 oculomotor apraxia63 HP:0000657
8 peripheral axonal degeneration63 HP:0000764
9 ataxia63 53 Very frequent (99-80%) HP:0001251
10 dysarthria63 HP:0001260
11 hyporeflexia63 HP:0001265
12 mental deterioration63 HP:0001268
13 cerebellar atrophy63 HP:0001272
14 areflexia63 HP:0001284
15 muscle weakness63 HP:0001324
16 dystonia63 HP:0001332
17 tremor63 HP:0001337
18 pes cavus63 HP:0001761
19 gait ataxia63 HP:0002066
20 limb ataxia63 HP:0002070
21 truncal ataxia63 HP:0002078
22 scoliosis63 HP:0002650
23 distal sensory impairment63 HP:0002936
24 hypoalbuminemia63 HP:0003073
25 hypercholesterolemia63 HP:0003124
26 decreased number of large peripheral myelinated nerve fibers63 HP:0003387
27 distal amyotrophy63 HP:0003693
28 cognitive impairment63 HP:0100543
29 abnormality of the nervous system53 Very frequent (99-80%)
30 gait disturbance53 Very frequent (99-80%)
31 peripheral neuropathy53 Very frequent (99-80%)

UMLS symptoms related to Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia:


cerebellar ataxia, tremor, muscle weakness, ataxia, truncal, gait ataxia

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 9)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
EthanolapprovedPhase 3204364-17-5702
Synonyms:
(C6-C9)Alkyl alcohol
02483_FLUKA
02851_FLUKA
02853_FLUKA
02854_FLUKA
02855_FLUKA
02856_FLUKA
02856_SIAL
02857_FLUKA
02857_SIAL
02858_FLUKA
02858_SIAL
02860_FLUKA
02865_FLUKA
02865_SIAL
02870_FLUKA
02870_SIAL
02875_FLUKA
02877_FLUKA
02878_FLUKA
02882_FLUKA
02882_SIAL
02883_FLUKA
02884_FLUKA
02890_FLUKA
02890_SIAL
02891_FLUKA
02891_SIAL
1-Hydroxyethane
100C.NPA
121182-78-3
187380_ALDRICH
187380_SIAL
24102_RIEDEL
24102_SIAL
24103_RIEDEL
24103_SIAL
24105_RIEDEL
24105_SIAL
24106_RIEDEL
24106_SIAL
24194_RIEDEL
24194_SIAL
245119_ALDRICH
245119_SIAL
270741_ALDRICH
270741_SIAL
277649_ALDRICH
277649_SIAL
2858_SIGMA
29221_FLUKA
32205_RIEDEL
32205_SIAL
32221_RIEDEL
32221_SIAL
32294_RIEDEL
32294_SIAL
34870_SIAL
34963_RIEDEL
39278_FLUKA
40210_ALDRICH
40210_RIEDEL
41322_FLUKA
458600_ALDRICH
458600_SIAL
459828_ALDRICH
459828_SIAL
459836_ALDRICH
459836_SIAL
459844_SIAL
48075_SUPELCO
493511_SIAL
493538_ALDRICH
493538_SIAL
493546_ALDRICH
493546_SIAL
64-17-5
676829_SIAL
68475-56-9
71076-86-3
71329-38-9
8000-16-6
8024-45-1
AC1L19TW
AC1Q31MM
AHD 2000
AI3-01706
ALCOHOL 5% IN D5-W
Absolute Alcohol
Absolute Ethanol
Absolute alcohol
Absolute ethanol
Absolute ethyl alcohol
Aethanol
Aethanol [German]
Aethylalkohol
Alcare Hand Degermer
Alcohol
Alcohol (USP)
Alcohol (ethyl)
Alcohol Anhydrous
Alcohol [USP]
Alcohol anhydrous
Alcohol dehydrated
Alcohol denatured
Alcohol etílico
Alcohol, Absolute
Alcohol, Dehydrated
Alcohol, Diluted
Alcohol, Grain
Alcohol, anhydrous
Alcohol, dehydrated
Alcohol, denatured
Alcohol, diluted
Alcohol, ethyl
Alcohols
Alcohols, C1-3
Alcohols, C30
Alcohols, C6-9
Alcool Ethylique
Alcool Etilico
Alcool ethylique
Alcool etilico
Alcool éthylique
Algrain
Alkohol
Alkohol [German]
Alkoholu Etylowego
Alkoholu etylowego
Aminoethanol
Anhydrol
Anhydrol PM 4085
Anhydrous alcohol
Anhydrous ethanol
Beta-Aminoethanol
Beta-Aminoethyl Alcohol
Beta-Ethanolamine
Beta-Hydroxyethylamine
C00469
C2H5OH
C2H6O
CCRIS 945
CDA 19
CDA 19-200
CHEBI:16236
CHEMBL545
CID702
Caswell No. 426
Caswell No. 430
Colamine
Cologne Spirit
Cologne spirit
Cologne spirits
 
D000431
D00068
DB00898
Dehydrated Ethanol
Dehydrated alcohol
Dehydrated ethanol
Denatured Alcohol
Denatured Alcohol Cd-10
Denatured Alcohol Cd-5
Denatured Alcohol Cd-5a
Denatured Alcohol Sd-1
Denatured Alcohol Sd-13a
Denatured Alcohol Sd-17
Denatured Alcohol Sd-23a
Denatured Alcohol Sd-28
Denatured Alcohol Sd-30
Denatured Alcohol Sd-39b
Denatured Alcohol Sd-39c
Denatured Alcohol Sd-3a
Denatured Alcohol Sd-40m
Denatured Ethanol
Denatured alcohol
Denatured ethanol
Desinfektol EL
Diluted Alcohol
Distilled spirits
E2385_SIGMA
E7023_ALDRICH
E7023_SIAL
E7148_ALDRICH
E7148_SIAL
E7517_SIGMA
EINECS 200-578-6
EINECS 270-649-4
EOH
EOX
ETA
Envision Conditioner Pdd 9020
Esumiru WK 88
EtOH
Etanolo
Etanolo [Italian]
Ethanol (9CI)
Ethanol 200 Proof
Ethanol 200 proof
Ethanol Absolute
Ethanol Absolute Bp
Ethanol Anhydrous
Ethanol Extra Pure
Ethanol Vapor
Ethanol [JAN]
Ethanol solution
Ethanol, Silent Spirit
Ethanol, undenatured
Ethanolum anhydricum
Ethicap
Ethyl Alcohol
Ethyl Alcohol & Water, 10%
Ethyl Alcohol & Water, 20%
Ethyl Alcohol & Water, 30%
Ethyl Alcohol & Water, 40%
Ethyl Alcohol & Water, 5%
Ethyl Alcohol & Water, 50%
Ethyl Alcohol & Water, 60%
Ethyl Alcohol & Water, 70%
Ethyl Alcohol & Water, 80%
Ethyl Alcohol & Water, 95%
Ethyl Alcohol & Water, 96%
Ethyl Alcohol Anhydrous
Ethyl Alcohol, Anhydrous
Ethyl Alcohol, Denatured
Ethyl Hydrate
Ethyl Hydroxide
Ethyl alc
Ethyl alcohol
Ethyl alcohol anhydrous
Ethyl alcohol in alcoholic beverages
Ethyl alcohol usp
Ethyl hydrate
Ethyl hydroxide
Ethylalcohol
Ethylalcohol [Dutch]
Ethylol
Ethylolamine
Ethyloxy Group
Etylowy alkohol
FEMA No. 2419
FEMA Number 2419
Fermentation alcohol
Glycinol
Grain alcohol
HSDB 531
HSDB 82
HYDROXYETHYL GROUP
Hinetoless
Hydroxyethane
I14-12648
IMS 99
Infinity Pure
Jaysol
Jaysol S
LS-1539
LTBB002977
Lux
Methylated Spirit Mineralised
Methylated spirit
Methylcarbinol
MolPort-001-785-844
Molasses alcohol
NCGC00091458-01
NCI-C03134
NSC 85228
NSC85228
Oxydimethylene Group
Potato alcohol
Punctilious ethyl alcohol
Pyro
QMHAIh@
Reagent Alcohol
Ru-Tuss Expectorant
SDA 3A
SDA 40-2
SDM No. 37
SY Fresh M
Sekundasprit
Silent spirit
Spirit
Spirits of wine
Spiritus vini
Spirt
Synasol
Tecsol
Tecsol C
Thanol
Thiofaco M-50
UNII-3K9958V90M
USAF EK-1597
Undenatured Ethanol
WLN: Q2
absolute alcohol
alcohol
alcohol etilico
bmse000297
etanol
ethanol
ethyl alcohol
grain alcohol
nchem.651-comp3c
nchembio.552-comp10
nchembio.94-comp20
spiritus vini
Äthanol
Äthylalkohol
éthanol
2
Glycerolexperimental, approvedPhase 322356-81-5753
Synonyms:
1,2,3-Trihydroxypropane
1,2,3-propanetriol
1,2,3-trihydroxypropane
Bulbold
Cristal
E 422
Emery 916
Glyceol Opthalgan
Glycerin
Glycerin, anhydrous
Glycerin,anhydrous
Glycerine
Glycerinum
 
Glyceritol
Glycerol
Glycyl alcohol
Glyrol
Glysanin
IFP
Incorporation factor
Mackstat H 66
Monoctanoin component D
Osmoglyn
Pricerine 9091
Propanetriol
RG-S
Trihydroxypropane
Tryhydroxypropane
3Trace ElementsPhase 35802
4MicronutrientsPhase 35802
5VitaminsPhase 35095
6UbiquinonePhase 3139
7Complement System ProteinsPhase 3228
8LecithinNutraceuticalPhase 370
9
Coenzyme Q10experimental, NutraceuticalPhase 3114303-98-05281915
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 Q-10
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 Q10RecruitingNCT02333305Phase 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 Adult Onset Ataxia with Oculomotor Apraxia26
2 Ataxia with Oculomotor Apraxia 124 APTX

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:

35
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:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053768.4APTX, CNOT3, HINT1, POLB, SETX, TTPA

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:

69
id Symbol AA change Variation ID SNP ID
1APTXp.Lys211GlnVAR_018794
2APTXp.Ala212ValVAR_018795rs748165574
3APTXp.Arg213HisVAR_018796rs150886026
4APTXp.His215ArgVAR_018797rs121908133
5APTXp.Pro220LeuVAR_018798rs121908131
6APTXp.Val277GlyVAR_018799rs121908132
7APTXp.Asp281GlyVAR_018800
8APTXp.Trp293ArgVAR_018801rs773393618
9APTXp.Leu237ProVAR_025365rs267606665

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1SETXNM_015046.5(SETX): c.994C> T (p.Arg332Trp)SNVPathogenicrs29001665GRCh37Chr 9, 135206680: 135206680
2APTXNM_175073.2(APTX): c.689dupT (p.Glu232Glyfs)duplicationPathogenicrs587776593GRCh37Chr 9, 32984710: 32984710
3APTXNM_175073.2(APTX): c.617C> T (p.Pro206Leu)SNVPathogenicrs121908131GRCh37Chr 9, 32984782: 32984782
4APTXNM_175073.2(APTX): c.840delT (p.Ser281Leufs)deletionPathogenicrs587776594GRCh37Chr 9, 32974490: 32974490
5APTXNM_175073.2(APTX): c.788T> G (p.Val263Gly)SNVPathogenicrs121908132GRCh37Chr 9, 32974542: 32974542
6APTXNM_175073.2(APTX): c.602A> G (p.His201Arg)SNVPathogenicrs121908133GRCh37Chr 9, 32984797: 32984797
7APTXAPTX, IVS7AS, G-A, -1SNVPathogenicChr na, -1: -1
8APTXNM_175073.2(APTX): c.837G> A (p.Trp279Ter)SNVPathogenicrs104894103GRCh37Chr 9, 32974493: 32974493
9APTXNC_000009.12: g.(?_32973498)_(33001604_?)deldeletionPathogenicGRCh38Chr 9, 32973498: 33001604
10APTXNM_175073.2(APTX): c.668T> C (p.Leu223Pro)SNVPathogenicrs267606665GRCh37Chr 9, 32984731: 32984731

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:00056346.8APTX, CNOT3, HINT1, PNKP, POLB, SACS

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

idNameGO IDScoreTop Affiliating Genes
1dephosphorylationGO:00163119.7APTX, PNKP
2DNA-dependent DNA replicationGO:00062619.5PNKP, POLB
3cellular response to DNA damage stimulusGO:00069749.4APTX, POLB, SETX
4nucleic acid phosphodiester bond hydrolysisGO:00903059.3APTX, PNKP

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

idNameGO IDScoreTop Affiliating Genes
1double-stranded DNA bindingGO:00036909.3APTX, PNKP
2damaged DNA bindingGO:00036848.7APTX, PNKP, POLB

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

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet