AOA
MCID: ATX029
MIFTS: 38

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

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

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

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

Name: Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia 54 13 69
Aoa1 23 50 24 56 66
Ataxia with Oculomotor Apraxia Type 1 12 23 14
Eoca-Ha 50 66 52
Eaoh 50 25 66
Adult Onset Ataxia with Oculomotor Apraxia 25 29
Ataxia-Oculomotor Apraxia Type 1 50 56
Ataxia-Oculomotor Apraxia 1 50 66
Early-Onset Ataxia with Ocular Motor Apraxia and Hypoalbuminemia 25
Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia 50
Ataxia Early-Onset with Oculomotor Apraxia and Hypoalbuminemia 66
Spinocerebellar Ataxia, Recessive, Non-Friedreich Type 1 25
Spinocerebellar Ataxia with Axonal Neuropathy Type 2 25
Early-Onset Cerebellar Ataxia with Hypoalbuminemia 50
Cerebellar Ataxia Early-Onset with Hypoalbuminemia 66
Spinocerebellar Ataxia, Autosomal Recessive 1 69
Ataxia-Telangiectasia-Like Syndrome 50
Ataxia-Oculomotor Apraxia Syndrome 66
Ataxia with Oculomotor Apraxia 1 24
Ataxia with Oculomotor Apraxia I 24
Ataxia with Oculomotor Apraxia 25
Scan2 25
Scar1 25
Aoa 66

Characteristics:

Orphanet epidemiological data:

56
ataxia-oculomotor apraxia type 1
Inheritance: Autosomal recessive; Age of onset: Childhood;

HPO:

32
ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia:
Inheritance autosomal recessive inheritance
Onset and clinical course juvenile onset adult onset


Classifications:



External Ids:

OMIM 54 208920
Disease Ontology 12 DOID:0050754
Orphanet 56 ORPHA1168
ICD10 via Orphanet 34 G11.3
MedGen 40 C1859598
ICD10 33 G11.1

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

OMIM : 54 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 coenzyme q10 deficiency, primary, 1, and has symptoms including ataxia, gait disturbance and peripheral neuropathy. An important gene associated with Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia is APTX (Aprataxin). The drugs Ethanol and Glycerol have been mentioned in the context of this disorder. Affiliated tissues include eye, and related phenotype is Increased viability with MLN4924 (a NAE inhibitor).

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 : 66 Ataxia-oculomotor apraxia syndrome: An autosomal recessive syndrome characterized by early-onset cerebellar ataxia, oculomotor apraxia, early areflexia and late peripheral neuropathy.

GeneReviews: NBK1456

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

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

Symptoms by clinical synopsis from OMIM:

208920

Clinical features from OMIM:

208920

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

56 32 (show all 30)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 56 32 Very frequent (99-80%) HP:0001251
2 gait disturbance 56 32 Very frequent (99-80%) HP:0001288
3 peripheral neuropathy 56 32 Very frequent (99-80%) HP:0009830
4 medial flaring of the eyebrow 56 32 Very frequent (99-80%) HP:0010747
5 tremor 32 HP:0001337
6 muscle weakness 32 HP:0001324
7 dystonia 32 HP:0001332
8 gait ataxia 32 HP:0002066
9 dysarthria 32 HP:0001260
10 scoliosis 32 HP:0002650
11 cognitive impairment 32 HP:0100543
12 limb ataxia 32 HP:0002070
13 pes cavus 32 HP:0001761
14 progressive external ophthalmoplegia 32 HP:0000590
15 abnormality of the nervous system 56 Very frequent (99-80%)
16 areflexia 32 HP:0001284
17 hypercholesterolemia 32 HP:0003124
18 mental deterioration 32 HP:0001268
19 hyporeflexia 32 HP:0001265
20 cerebellar atrophy 32 HP:0001272
21 choreoathetosis 32 HP:0001266
22 oculomotor apraxia 32 HP:0000657
23 hypoalbuminemia 32 HP:0003073
24 distal sensory impairment 32 HP:0002936
25 distal amyotrophy 32 HP:0003693
26 truncal ataxia 32 HP:0002078
27 gaze-evoked nystagmus 32 HP:0000640
28 decreased number of large peripheral myelinated nerve fibers 32 HP:0003387
29 hypometric saccades 32 HP:0000571
30 peripheral axonal degeneration 32 HP:0000764

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


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

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 8.8 APTX HINT1 SETX

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

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

(show all 9)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ethanol Approved Phase 3 64-17-5 702
2
Glycerol Approved, Experimental Phase 3 56-81-5 753
3 Complement System Proteins Phase 3
4 Micronutrients Phase 3
5 Trace Elements Phase 3
6 Ubiquinone Phase 3
7 Vitamins Phase 3
8
Coenzyme Q10 Experimental, Nutraceutical Phase 3 303-98-0 5281915
9 Lecithin Nutraceutical Phase 3

Interventional clinical trials:


id Name Status NCT ID Phase
1 Evolution of Albumin on AOA1 Patients Supplemented With Coenzyme Q10 Recruiting NCT02333305 Phase 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

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

id Genetic test Affiliating Genes
1 Adult Onset Ataxia with Oculomotor Apraxia 29
2 Ataxia with Oculomotor Apraxia 1 24 APTX

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

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

39
Eye

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

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

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

66
id Symbol AA change Variation ID SNP ID
1 APTX p.Lys211Gln VAR_018794
2 APTX p.Ala212Val VAR_018795 rs748165574
3 APTX p.Arg213His VAR_018796 rs150886026
4 APTX p.His215Arg VAR_018797 rs121908133
5 APTX p.Pro220Leu VAR_018798 rs121908131
6 APTX p.Val277Gly VAR_018799 rs121908132
7 APTX p.Asp281Gly VAR_018800
8 APTX p.Trp293Arg VAR_018801 rs773393618
9 APTX p.Leu237Pro VAR_025365 rs267606665

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 APTX NM_175073.2(APTX): c.689dupT (p.Glu232Glyfs) duplication Pathogenic rs587776593 GRCh37 Chromosome 9, 32984710: 32984710
2 APTX NM_175073.2(APTX): c.617C> T (p.Pro206Leu) single nucleotide variant Pathogenic rs121908131 GRCh37 Chromosome 9, 32984782: 32984782
3 APTX NM_175073.2(APTX): c.840delT (p.Ser281Leufs) deletion Pathogenic rs587776594 GRCh37 Chromosome 9, 32974490: 32974490
4 APTX NM_175073.2(APTX): c.788T> G (p.Val263Gly) single nucleotide variant Pathogenic rs121908132 GRCh37 Chromosome 9, 32974542: 32974542
5 APTX NM_175073.2(APTX): c.602A> G (p.His201Arg) single nucleotide variant Pathogenic rs121908133 GRCh37 Chromosome 9, 32984797: 32984797
6 APTX APTX, IVS7AS, G-A, -1 single nucleotide variant Pathogenic
7 APTX NM_175073.2(APTX): c.837G> A (p.Trp279Ter) single nucleotide variant Pathogenic rs104894103 GRCh37 Chromosome 9, 32974493: 32974493
8 APTX NC_000009.12: g.(?_32973498)_(33001604_?)del deletion Pathogenic GRCh38 Chromosome 9, 32973498: 33001604
9 APTX NM_175073.2(APTX): c.668T> C (p.Leu223Pro) single nucleotide variant Pathogenic rs267606665 GRCh37 Chromosome 9, 32984731: 32984731

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

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

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

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

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

id Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.1 APTX CNOT3 HINT1 SACS SETX TTPA

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
31 HMDB
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33 ICD10
34 ICD10 via Orphanet
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54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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