MCID: ATX029
MIFTS: 36

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

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

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

About this section


Genetics Home Reference:21 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. About half of affected people have trouble moving their eyes to look side-to-side (oculomotor apraxia). People with oculomotor apraxia have to turn their head to see things in their side (peripheral) vision.

MalaCards based summary: Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia, also known as aoa1, is related to apraxia and cerebellar ataxia, and has symptoms including gait disturbance, incoordination and medial flaring of the eyebrow. An important gene associated with Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia is APTX (aprataxin). The compounds alpha tocopherol and vitamin-e have been mentioned in the context of this disorder. Affiliated tissues include eye.

OMIM:45 Ataxia-oculomotor apraxia syndrome is an early-onset autosomal recessive cerebellar ataxia with peripheral axonal... (208920) more...

GeneReviews summary for aoa

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

About this section

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

Name: Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia 45 10 60
Aoa1 19 41 47
Adult Onset Ataxia with Oculomotor Apraxia 21 22
Ataxia with Oculomotor Apraxia Type 1 9 19
Ataxia - Oculomotor Apraxia Type 1 41 47
Ataxia-Oculomotor Apraxia 1 41 20
Eoca-Ha 41 43
Eaoh 41 21
Early-Onset Ataxia with Ocular Motor Apraxia and Hypoalbuminemia 21
Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia 41
 
Spinocerebellar Ataxia, Recessive, Non-Friedreich Type 1 21
Spinocerebellar Ataxia with Axonal Neuropathy Type 2 21
Early-Onset Cerebellar Ataxia with Hypoalbuminemia 41
Spinocerebellar Ataxia, Autosomal Recessive 1 60
Ataxia-Telangiectasia-Like Syndrome 41
Ataxia-Oculomotor Apraxia Syndrome 41
Ataxia with Oculomotor Apraxia 21
Scar1 21
Scan2 21
Aoa 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
aoa1:
Inheritance: Autosomal recessive; Age of onset: Childhood


External Ids:

OMIM45 208920
Disease Ontology9 DOID:0050754
Orphanet47 1168
ICD10 via Orphanet26 G11.3

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

About this section

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

(show all 11)
idRelated DiseaseScoreTop Affiliating Genes
1apraxia31.1SETX, APTX
2cerebellar ataxia30.3APTX, SETX
3ataxia-telangiectasia30.2SETX, APTX
4ataxia10.9
5ataxia-telangiectasia-like disorder10.4
6ataxia-ocular apraxia-210.1
7wiskott-aldrich syndrome10.1
8coenzyme q10 deficiency, primary, 110.1
9ataxia with vitamin e deficiency9.9APTX, SETX
10doid:40199.9APTX, SETX
11friedreich ataxia9.8APTX, SETX

Graphical network of 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

About this section

Symptoms by clinical synopsis from OMIM:

208920

Clinical features from OMIM:

208920

Symptoms:

 47
  • 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 32)
id Description Frequency HPO Source Accession
1 gait disturbance hallmark (90%) HP:0001288
2 incoordination hallmark (90%) HP:0002311
3 medial flaring of the eyebrow hallmark (90%) HP:0010747
4 choreoathetosis 79% HP:0001266
5 autosomal recessive inheritance HP:0000007
6 hypometric saccades HP:0000571
7 progressive external ophthalmoplegia HP:0000590
8 gaze-evoked nystagmus HP:0000640
9 oculomotor apraxia HP:0000657
10 peripheral axonal degeneration HP:0000764
11 ataxia HP:0001251
12 dysarthria HP:0001260
13 hyporeflexia HP:0001265
14 mental deterioration HP:0001268
15 cerebellar atrophy HP:0001272
16 areflexia HP:0001284
17 muscle weakness HP:0001324
18 dystonia HP:0001332
19 tremor HP:0001337
20 pes cavus HP:0001761
21 gait ataxia HP:0002066
22 limb ataxia HP:0002070
23 truncal ataxia HP:0002078
24 scoliosis HP:0002650
25 distal sensory impairment HP:0002936
26 hypoalbuminemia HP:0003073
27 hypercholesterolemia HP:0003124
28 decreased number of large peripheral myelinated nerve fibers HP:0003387
29 adult onset HP:0003581
30 juvenile onset HP:0003621
31 distal amyotrophy HP:0003693
32 cognitive impairment HP:0100543

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

About this section

Drug clinical trials:

Search ClinicalTrials for Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia

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

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

About this section

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

id Genetic test Affiliating Genes
1 Ataxia with Oculomotor Apraxia 120 APTX
2 Adult Onset Ataxia with Oculomotor Apraxia22

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

About this section

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

31
Eye

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

About this section

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

About this section

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

About this section

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

62
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:

6 (show all 18)
id Gene Variation 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

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

About this section
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

About this section

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

About this section
Sources:
43Novoseek
See all sources

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

idCompoundScoreTop Affiliating Genes
1alpha tocopherol439.1SETX, APTX
2vitamin-e438.8SETX, APTX

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

About this section

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

idNameGO IDScoreTop Affiliating Genes
1nucleolusGO:00057309.1SETX, APTX
2nucleoplasmGO:00056548.8SETX, APTX

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

idNameGO IDScoreTop Affiliating Genes
1cell deathGO:00082199.1SETX, APTX
2double-strand break repairGO:00063028.8SETX, APTX

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

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

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet