MCID: ATX029
MIFTS: 38

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 49 11 65
Aoa1 21 45 22 51 67
Ataxia with Oculomotor Apraxia Type 1 10 21 12
Eoca-Ha 45 47 67
Eaoh 45 23 67
Adult Onset Ataxia with Oculomotor Apraxia 23 24
Ataxia-Oculomotor Apraxia Syndrome 45 67
Ataxia-Oculomotor Apraxia 1 45 67
Scar1 23 47
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
Spinocerebellar Ataxia with Axonal Neuropathy Type 2 23
Early-Onset Cerebellar Ataxia with Hypoalbuminemia 45
Cerebellar Ataxia Early-Onset with Hypoalbuminemia 67
Spinocerebellar Ataxia, Autosomal Recessive 1 65
Ataxia-Oculomotor Apraxia Syndrome Type 1 51
Ataxia-Telangiectasia-Like Syndrome 45
Ataxia with Oculomotor Apraxia I 22
Ataxia with Oculomotor Apraxia 1 22
Ataxia with Oculomotor Apraxia 23
Scan2 23

Characteristics:

Orphanet epidemiological data:

51
aoa1:
Inheritance: Autosomal recessive; Age of onset: Childhood

HPO:

61
ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia:
Onset and clinical course: juvenile onset, adult onset
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 208920
Disease Ontology10 DOID:0050754
Orphanet51 1168
ICD10 via Orphanet28 G11.3
MedGen34 C1859598
ICD1027 G11.1
UMLS65 C1859598, C1853761

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 ataxia-telangiectasia-like disorder and lung cancer, and has symptoms including medial flaring of the eyebrow, incoordination and choreoathetosis. An important gene associated with Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia is APTX (Aprataxin), and among its related pathways is . Affiliated tissues include eye, and related mouse phenotype homeostasis/metabolism.

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 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

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

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
GlycerolexperimentalPhase 319156-81-5753
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
2MicronutrientsPhase 33901
3Trace ElementsPhase 33900
4VitaminsPhase 33857
5UbiquinonePhase 392
6Phase 3
7Complement System ProteinsPhase 3190
8LecithinNutraceuticalPhase 363
9
Coenzyme Q10NutraceuticalPhase 3104303-98-05281915
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

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
1MP:00053767.9ACTA1, APTX, SETX, TTPA, WAS

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
id Gene Variation Type Significance SNP ID Assembly Location
1APTXNM_175073.2(APTX): c.689dupT (p.Glu232Glyfs)duplicationPathogenicrs587776593GRCh37Chr 9, 32984710: 32984710
2APTXNM_175073.2(APTX): c.617C> T (p.Pro206Leu)single nucleotide variantPathogenicrs121908131GRCh37Chr 9, 32984782: 32984782
3APTXNM_175073.2(APTX): c.840delT (p.Ser281Leufs)deletionPathogenicrs587776594GRCh37Chr 9, 32974490: 32974490
4APTXNM_175073.2(APTX): c.788T> G (p.Val263Gly)single nucleotide variantPathogenicrs121908132GRCh37Chr 9, 32974542: 32974542
5APTXNM_175073.2(APTX): c.602A> G (p.His201Arg)single nucleotide variantPathogenicrs121908133GRCh37Chr 9, 32984797: 32984797
6APTXAPTX, IVS7AS, G-A, -1single nucleotide variantPathogenic
7APTXNM_175073.2(APTX): c.837G> A (p.Trp279Ter)single nucleotide variantPathogenicrs104894103GRCh37Chr 9, 32974493: 32974493
8APTXNC_000009.12: g.(?_32973498)_(33001604_?)deldeletionPathogenicGRCh38Chr 9, 32973498: 33001604
9APTXNM_175073.2(APTX): c.668T> C (p.Leu223Pro)single nucleotide variantPathogenicrs267606665GRCh37Chr 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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Pathways related to Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.5

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

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

idNameGO IDScoreTop Affiliating Genes
1cellular response to DNA damage stimulusGO:00069749.4APTX, SETX

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