AOA
MCID: ATX029
MIFTS: 47

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

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

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

MalaCards integrated aliases for Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia:

Name: Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia 58 13 41 74
Aoa1 58 25 54 60 76
Ataxia with Oculomotor Apraxia Type 1 12 25 54 15
Ataxia-Oculomotor Apraxia Type 1 54 60 30 6
Eoca-Ha 58 54 76 56
Eaoh 58 54 26 76
Ataxia-Telangiectasia-Like Syndrome 58 54 38
Ataxia-Oculomotor Apraxia 1 58 54 76
Ataxia-Oculomotor Apraxia Syndrome 58 76
Ataxia with Oculomotor Apraxia 26 6
Aoa 58 76
Early-Onset Ataxia with Ocular Motor Apraxia and Hypoalbuminemia 26
Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia 54
Ataxia Early-Onset with Oculomotor Apraxia and Hypoalbuminemia 76
Cerebellar Ataxia, Early-Onset, with Hypoalbuminemia; Eoca-Ha 58
Spinocerebellar Ataxia, Recessive, Non-Friedreich Type 1 26
Cerebellar Ataxia, Early-Onset, with Hypoalbuminemia 58
Spinocerebellar Ataxia with Axonal Neuropathy Type 2 26
Early-Onset Cerebellar Ataxia with Hypoalbuminemia 54
Cerebellar Ataxia Early-Onset with Hypoalbuminemia 76
Spinocerebellar Ataxia, Autosomal Recessive 1 74
Adult Onset Ataxia with Oculomotor Apraxia 26
Ataxia-Oculomotor Apraxia Syndrome; Aoa 58
Ataxia-Oculomotor Apraxia 1; Aoa1 58
Ataxia-Oculomotor Apraxia 41
Scar1 26
Scan2 26

Characteristics:

Orphanet epidemiological data:

60
ataxia-oculomotor apraxia type 1
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset is usually in childhood or adolescence (2 to 18 years)
adult onset has been reported
oculomotor apraxia is not always present


HPO:

33
ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia:
Onset and clinical course adult onset juvenile onset
Inheritance autosomal recessive inheritance


Classifications:



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

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1168Disease definitionAtaxia with oculomotor apraxia type 1 (AOA1) is a rare autosomal recessive cerebellar ataxia (ARCA; see this term), characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia.EpidemiologyAOA1 represents 3.6% of all ARCA in Portugal; in Japan, AOA1 seems to be the most frequent cause of ARCA. In a cohort of 227 patients mostly of French origin with progressive cerebellar ataxia selected after exclusion of Friedreich ataxia (see this term), the relative frequency of AOA1 was of 5%.Clinical descriptionCerebellar ataxia is the first manifestation of AOA1 with a mean age of onset of 4.3 years (2-10 years) and is characterized by progressive gait imbalance followed by dysarthria, and limb dysmetria. Later, peripheral axonal motor neuropathy dominates the clinical picture. Oculomotor apraxia (OMA; inability to coordinate eyes ± head movements: when the head turns toward a lateral target; the head reaches the target before the eyes) is present in almost all individuals with AOA1. Chorea is present at onset in 80% of patients and upper limb dystonia (see this term) occurs in about 50% of individuals. Additional features include square wave jerks, saccadic pursuit and gaze-evoked nystagmus, areflexia followed by severe peripheral neuropathy. Variable intellectual disability is observed.EtiologyAOA1 results from mutations in APTX gene (9p13.3) encoding aprataxin which plays a role in DNA-single-strand break repair. Most mutations identified so far are localized in exons 5, 6 and 7. Some correlations between genotype and phenotype have been established: for example severe and persistent choreic phenotype is associated with mutations A198V; truncating mutations are associated with earlier onset and deletions with more severe phenotype and intellectual disability.Diagnostic methodsDiagnosis of AOA1 is based on the clinical features, the progressive evolution, the absence of extraneurologic findings and family history. Electromyography findings reveal severe axonal sensory-motor neuropathy. Oculographic recordings demonstrate normal latencies, hypometric saccades, decrease mean gain in amplitude and broken saccades into multiple successive saccades. Cerebral magnetic resonance imagery displays cerebellar atrophy. Hypoalbuminemia and hypercholesterolemia are usual (disease duration is positively correlated with cholesterol and negatively correlated with albumin levels). Diagnosis is confirmed by molecular analysis of APTX gene.Differential diagnosisDifferential diagnosis includes Friedreich ataxia, ataxia with vitamin E deficiency, AOA2, ataxia-telangiectasia, ataxia-telangiectasia-like disorder, autosomal recessive spastic ataxia of Charlevoix-Saguenay (see these terms).Antenatal diagnosisCarrier testing for at-risk family members and prenatal testing are possible if both disease-causing alleles in a family are known.Genetic counselingTransmission of AOA1 is autosomal recessive. Genetic counseling is recommended as each sib of an affected individual has 25% chance of being affected, 50% chance of being an asymptomatic carrier, and 25% chance of being neither affected nor a carrier.Management and treatmentNo specific treatment exists for AOA1 and management is mainly supportive. It includes physical therapy for cerebellar ataxia and disabilities resulting from peripheral neuropathy; educational support for reading and writing difficulties, speech therapy for dysarthria and cognitive impairment. Low-cholesterol diet and hypolipemiant treatment are recommended. Routine follow-up with a neurologist or neurogenetician is suggested. Some therapeutic trials are on the way such as the evaluation of efficacy of Coenzyme Q10 in evolution of the disease.PrognosisAOA1 is a progressive neurodegenerative disorder and most patients usually become wheelchair bound from seven to ten years after onset of the disease.Visit the Orphanet disease page for more resources.

MalaCards based summary : Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia, also known as aoa1, is related to spinocerebellar ataxia, autosomal recessive 1 and apraxia, and has symptoms including muscle weakness, tremor and gait ataxia. An important gene associated with Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia is APTX (Aprataxin), and among its related pathways/superpathways are Base excision repair and Nucleotide excision repair. The drugs Ethanol and Coenzyme Q10 have been mentioned in the context of this disorder. Affiliated tissues include eye and testes, and related phenotypes are ataxia and gait disturbance

Disease Ontology : 12 An autosomal recessive cerebellar ataxia that is characterized by progressive cerebellar ataxia including oculomotor apraxia, severe neuropathy and hypoalbuminemia, has material basis in autosomal recessive inheritance of mutation in the APTX gene.

Genetics Home Reference : 26 Ataxia with oculomotor apraxia is a condition characterized by problems with movement that worsen over time. The hallmark of this condition is poor coordination and balance (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.

OMIM : 58 Ataxia-oculomotor apraxia syndrome is an early-onset autosomal recessive cerebellar ataxia with peripheral axonal neuropathy, oculomotor apraxia (defined as the limitation of ocular movements on command), and hypoalbuminemia (Moreira et al., 2001). (208920)

UniProtKB/Swiss-Prot : 76 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

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 63)
# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia, autosomal recessive 1 30.9 APTX SETX TTPA
2 apraxia 30.3 APTX SETX
3 aceruloplasminemia 29.0 APTX SACS SETX TTPA
4 joubert syndrome 6 11.5
5 anemia, sideroblastic, and spinocerebellar ataxia 11.4
6 ocular motor apraxia 11.4
7 acrocallosal syndrome 11.3
8 joubert syndrome 1 11.3
9 joubert syndrome 10 11.3
10 joubert syndrome 2 11.3
11 joubert syndrome 3 11.3
12 joubert syndrome 4 11.3
13 joubert syndrome 5 11.3
14 joubert syndrome 7 11.3
15 joubert syndrome 9 11.3
16 joubert syndrome 8 11.3
17 nephronophthisis 12 11.3
18 joubert syndrome 13 11.3
19 meckel syndrome, type 10 11.3
20 joubert syndrome 15 11.3
21 spastic ataxia 5, autosomal recessive 11.3
22 joubert syndrome 17 11.3
23 joubert syndrome 18 11.3
24 nephronophthisis 14 11.3
25 joubert syndrome 20 11.3
26 joubert syndrome 21 11.3
27 joubert syndrome 22 11.3
28 joubert syndrome 23 11.3
29 joubert syndrome 24 11.3
30 joubert syndrome 25 11.3
31 joubert syndrome 26 11.3
32 joubert syndrome 27 11.3
33 joubert syndrome 28 11.3
34 meckel syndrome 13 11.3
35 joubert syndrome 30 11.3
36 joubert syndrome 32 11.3
37 joubert syndrome 31 11.3
38 joubert syndrome 33 11.3
39 joubert syndrome 35 11.3
40 ataxia-oculomotor apraxia 3 11.1
41 ataxia-oculomotor apraxia 4 11.1
42 ataxia and polyneuropathy, adult-onset 10.4
43 astrocytoma 10.2
44 pilocytic astrocytoma 10.2
45 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 10.2
46 infertility 10.1
47 axonal neuropathy 10.1
48 neuropathy 10.1
49 tremor 10.1
50 aging 10.1

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

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

60 33 (show all 45)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001251
2 gait disturbance 60 33 hallmark (90%) Very frequent (99-80%) HP:0001288
3 peripheral neuropathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0009830
4 medial flaring of the eyebrow 60 33 hallmark (90%) Very frequent (99-80%) HP:0010747
5 areflexia 33 hallmark (90%) HP:0001284
6 sensorimotor neuropathy 33 hallmark (90%) HP:0007141
7 cerebellar vermis atrophy 33 hallmark (90%) HP:0006855
8 gait imbalance 33 frequent (33%) HP:0002141
9 saccadic smooth pursuit 33 frequent (33%) HP:0001152
10 elevated alpha-fetoprotein 33 frequent (33%) HP:0006254
11 oculomotor apraxia 33 frequent (33%) HP:0000657
12 sensory impairment 33 frequent (33%) HP:0003474
13 gaze-evoked nystagmus 33 frequent (33%) HP:0000640
14 dysphagia 33 occasional (7.5%) HP:0002015
15 strabismus 33 occasional (7.5%) HP:0000486
16 babinski sign 33 occasional (7.5%) HP:0003487
17 urinary bladder sphincter dysfunction 33 occasional (7.5%) HP:0002839
18 dystonia 33 occasional (7.5%) HP:0001332
19 hypercholesterolemia 33 occasional (7.5%) HP:0003124
20 mental deterioration 33 occasional (7.5%) HP:0001268
21 choreoathetosis 33 very rare (1%) HP:0001266
22 postural tremor 33 occasional (7.5%) HP:0002174
23 head tremor 33 occasional (7.5%) HP:0002346
24 hypoalbuminemia 33 occasional (7.5%) HP:0003073
25 elevated serum creatine kinase 33 occasional (7.5%) HP:0003236
26 dysarthria 33 HP:0001260
27 muscle weakness 33 HP:0001324
28 tremor 33 HP:0001337
29 scoliosis 33 HP:0002650
30 cognitive impairment 33 HP:0100543
31 gait ataxia 33 HP:0002066
32 limb ataxia 33 HP:0002070
33 pes cavus 33 HP:0001761
34 progressive external ophthalmoplegia 33 HP:0000590
35 dementia 33 HP:0000726
36 abnormality of the nervous system 60 Very frequent (99-80%)
37 hyporeflexia 33 HP:0001265
38 truncal ataxia 33 HP:0002078
39 cerebellar atrophy 33 HP:0001272
40 distal amyotrophy 33 HP:0003693
41 hypometric saccades 33 HP:0000571
42 distal sensory impairment 33 HP:0002936
43 decreased number of large peripheral myelinated nerve fibers 33 HP:0003387
44 axonal degeneration 33 HP:0040078
45 peripheral axonal degeneration 33 HP:0000764

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
dysarthria
tremor
gait ataxia
limb ataxia
dystonia
more
Skeletal Spine:
scoliosis

Head And Neck Eyes:
progressive external ophthalmoplegia
hypometric saccades
gaze-evoked nystagmus
oculomotor apraxia (in 86% of patients)

Laboratory Abnormalities:
hypoalbuminemia (in 83%)
hypercholesterolemia (in 75%)

Muscle Soft Tissue:
muscle weakness
distal muscular atrophy due to peripheral neuropathy
muscle coenzyme q deficiency

Skeletal Feet:
pes cavus

Neurologic Peripheral Nervous System:
areflexia
hyporeflexia
axonal sensory and motor peripheral neuropathy, severe
distal sensory loss
nerve biopsy shows axonal degeneration and axonal sprouting
more

Clinical features from OMIM:

208920

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


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

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)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ethanol Approved Phase 3 64-17-5 702
2
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 3 303-98-0 5281915
3 Ubiquinone Phase 3
4 Nutrients Phase 3
5 Trace Elements Phase 3
6 Lecithin Phase 3
7 Vitamins Phase 3
8 Micronutrients Phase 3
9 Complement System Proteins Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Evolution of Albumin on AOA1 Patients Supplemented With Coenzyme Q10 Completed 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:

# Genetic test Affiliating Genes
1 Ataxia-Oculomotor Apraxia Type 1 30 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:

42
Eye, Testes

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

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

(show all 15)
# Title Authors Year
1
Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1. ( 29356829 )
2018
2
Erratum to: Ataxia with Oculomotor Apraxia Type 1 without Oculomotor Apraxia: A Case Report. ( 28079319 )
2017
3
A Novel APTX Variant and Ataxia with Oculomotor Apraxia Type 1. ( 28516743 )
2017
4
Comparing ataxias with oculomotor apraxia: a multimodal study of AOA1, AOA2 and AT focusing on video-oculography and alpha-fetoprotein. ( 29127364 )
2017
5
Complete APTX deletion in a patient with ataxia with oculomotor apraxia type 1. ( 26285866 )
2015
6
Ataxia with Oculomotor Apraxia Type 1 without Oculomotor Apraxia: A Case Report. ( 26541496 )
2015
7
Novel APTX Mutation in a Hispanic Subject Affected by Ataxia with Oculomotor Apraxia Type 1. ( 30363926 )
2015
8
A novel mutation in the aprataxin (APTX) gene in an Iranian individual suffering early-onset ataxia with oculomotor apraxia type 1(AOA1) disease. ( 23183622 )
2012
9
Complete deletion of the aprataxin gene: ataxia with oculomotor apraxia type 1 with severe phenotype and cognitive deficit. ( 21686683 )
2009
10
Complete deletion of the aprataxin gene: ataxia with oculomotor apraxia type 1 with severe phenotype and cognitive deficit. ( 18202221 )
2008
11
Nigrostriatal involvement in ataxia with oculomotor apraxia type 1. ( 18004640 )
2008
12
Ataxia with oculomotor apraxia type 1 (AOA1): clinical and neuropsychological features in 2 new patients and differential diagnosis. ( 18403580 )
2008
13
Ataxia with oculomotor apraxia type 1 in Southern Italy: late onset and variable phenotype. ( 15596775 )
2004
14
Cerebellar ataxia with oculomotor apRAxia type 1: clinical and genetic studies. ( 14506070 )
2003
15
Ataxia with Oculomotor Apraxia Type 1 ( 20301629 )
1993

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:

76
# 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 (show top 50) (show all 280)
# Gene Variation Type Significance SNP ID Assembly Location
1 SETX NM_015046.5(SETX): c.59G> A (p.Arg20His) single nucleotide variant Benign/Likely benign rs79740039 GRCh38 Chromosome 9, 132349370: 132349370
2 SETX NM_015046.5(SETX): c.59G> A (p.Arg20His) single nucleotide variant Benign/Likely benign rs79740039 GRCh37 Chromosome 9, 135224757: 135224757
3 SETX NM_015046.5(SETX): c.3809C> T (p.Pro1270Leu) single nucleotide variant Likely benign rs144334281 GRCh38 Chromosome 9, 132327789: 132327789
4 SETX NM_015046.5(SETX): c.3809C> T (p.Pro1270Leu) single nucleotide variant Likely benign rs144334281 GRCh37 Chromosome 9, 135203176: 135203176
5 SETX NM_015046.5(SETX): c.3147C> T (p.His1049=) single nucleotide variant Benign/Likely benign rs3739921 GRCh37 Chromosome 9, 135203838: 135203838
6 SETX NM_015046.5(SETX): c.3147C> T (p.His1049=) single nucleotide variant Benign/Likely benign rs3739921 GRCh38 Chromosome 9, 132328451: 132328451
7 SETX NM_015046.5(SETX): c.7834A> G (p.Ser2612Gly) single nucleotide variant Benign rs3739927 GRCh37 Chromosome 9, 135139826: 135139826
8 SETX NM_015046.5(SETX): c.7834A> G (p.Ser2612Gly) single nucleotide variant Benign rs3739927 GRCh38 Chromosome 9, 132264439: 132264439
9 APTX NM_001195248.1(APTX): c.526-25_526-5delGTTTTTTTTTTTGTTTTTTTT deletion Benign rs200922655 GRCh37 Chromosome 9, 32986033: 32986053
10 APTX NM_001195248.1(APTX): c.526-25_526-5delGTTTTTTTTTTTGTTTTTTTT deletion Benign rs200922655 GRCh38 Chromosome 9, 32986035: 32986055
11 APTX NM_175073.2(APTX): c.771-12dupT duplication Benign rs34600530 GRCh37 Chromosome 9, 32974571: 32974571
12 APTX NM_175073.2(APTX): c.771-12dupT duplication Benign rs34600530 GRCh38 Chromosome 9, 32974573: 32974573
13 APTX NM_175073.2(APTX): c.18G> T (p.Trp6Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs144076460 GRCh38 Chromosome 9, 32989874: 32989874
14 APTX NM_175073.2(APTX): c.18G> T (p.Trp6Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs144076460 GRCh37 Chromosome 9, 32989872: 32989872
15 APTX NM_175073.2(APTX): c.689dupT (p.Glu232Glyfs) duplication Pathogenic rs587776593 GRCh37 Chromosome 9, 32984710: 32984710
16 APTX NM_175073.2(APTX): c.689dupT (p.Glu232Glyfs) duplication Pathogenic rs587776593 GRCh38 Chromosome 9, 32984712: 32984712
17 APTX NM_175073.2(APTX): c.617C> T (p.Pro206Leu) single nucleotide variant Pathogenic rs121908131 GRCh37 Chromosome 9, 32984782: 32984782
18 APTX NM_175073.2(APTX): c.617C> T (p.Pro206Leu) single nucleotide variant Pathogenic rs121908131 GRCh38 Chromosome 9, 32984784: 32984784
19 APTX NM_175073.2(APTX): c.840delT (p.Ser281Leufs) deletion Pathogenic rs587776594 GRCh37 Chromosome 9, 32974490: 32974490
20 APTX NM_175073.2(APTX): c.840delT (p.Ser281Leufs) deletion Pathogenic rs587776594 GRCh38 Chromosome 9, 32974492: 32974492
21 APTX NM_175073.2(APTX): c.788T> G (p.Val263Gly) single nucleotide variant Pathogenic rs121908132 GRCh37 Chromosome 9, 32974542: 32974542
22 APTX NM_175073.2(APTX): c.788T> G (p.Val263Gly) single nucleotide variant Pathogenic rs121908132 GRCh38 Chromosome 9, 32974544: 32974544
23 APTX NM_175073.2(APTX): c.602A> G (p.His201Arg) single nucleotide variant Pathogenic rs121908133 GRCh37 Chromosome 9, 32984797: 32984797
24 APTX NM_175073.2(APTX): c.602A> G (p.His201Arg) single nucleotide variant Pathogenic rs121908133 GRCh38 Chromosome 9, 32984799: 32984799
25 APTX APTX, IVS7AS, G-A, -1 single nucleotide variant Pathogenic
26 APTX NM_175073.2(APTX): c.837G> A (p.Trp279Ter) single nucleotide variant Pathogenic rs104894103 GRCh37 Chromosome 9, 32974493: 32974493
27 APTX NM_175073.2(APTX): c.837G> A (p.Trp279Ter) single nucleotide variant Pathogenic rs104894103 GRCh38 Chromosome 9, 32974495: 32974495
28 APTX NC_000009.12: g.(?_32973498)_(33001604_?)del deletion Pathogenic GRCh38 Chromosome 9, 32973498: 33001604
29 APTX NM_175073.2(APTX): c.668T> C (p.Leu223Pro) single nucleotide variant Pathogenic rs267606665 GRCh37 Chromosome 9, 32984731: 32984731
30 APTX NM_175073.2(APTX): c.668T> C (p.Leu223Pro) single nucleotide variant Pathogenic rs267606665 GRCh38 Chromosome 9, 32984733: 32984733
31 SETX NM_015046.5(SETX): c.1077T> C (p.Tyr359=) single nucleotide variant Benign rs9411449 GRCh37 Chromosome 9, 135206460: 135206460
32 SETX NM_015046.5(SETX): c.1077T> C (p.Tyr359=) single nucleotide variant Benign rs9411449 GRCh38 Chromosome 9, 132331073: 132331073
33 SETX NM_015046.5(SETX): c.1979C> G (p.Ala660Gly) single nucleotide variant Benign rs882709 GRCh37 Chromosome 9, 135205006: 135205006
34 SETX NM_015046.5(SETX): c.1979C> G (p.Ala660Gly) single nucleotide variant Benign rs882709 GRCh38 Chromosome 9, 132329619: 132329619
35 SETX NM_015046.5(SETX): c.3455T> G (p.Phe1152Cys) single nucleotide variant Benign/Likely benign rs3739922 GRCh37 Chromosome 9, 135203530: 135203530
36 SETX NM_015046.5(SETX): c.3455T> G (p.Phe1152Cys) single nucleotide variant Benign/Likely benign rs3739922 GRCh38 Chromosome 9, 132328143: 132328143
37 SETX NM_015046.5(SETX): c.3576T> G (p.Asp1192Glu) single nucleotide variant Benign rs1185193 GRCh37 Chromosome 9, 135203409: 135203409
38 SETX NM_015046.5(SETX): c.3576T> G (p.Asp1192Glu) single nucleotide variant Benign rs1185193 GRCh38 Chromosome 9, 132328022: 132328022
39 SETX NM_015046.5(SETX): c.3754G> A (p.Gly1252Arg) single nucleotide variant Benign rs1183768 GRCh37 Chromosome 9, 135203231: 135203231
40 SETX NM_015046.5(SETX): c.3754G> A (p.Gly1252Arg) single nucleotide variant Benign rs1183768 GRCh38 Chromosome 9, 132327844: 132327844
41 SETX NM_015046.5(SETX): c.4156A> G (p.Ile1386Val) single nucleotide variant Benign rs543573 GRCh37 Chromosome 9, 135202829: 135202829
42 SETX NM_015046.5(SETX): c.4156A> G (p.Ile1386Val) single nucleotide variant Benign rs543573 GRCh38 Chromosome 9, 132327442: 132327442
43 SETX NM_015046.5(SETX): c.5563A> G (p.Thr1855Ala) single nucleotide variant Benign rs2296871 GRCh37 Chromosome 9, 135173685: 135173685
44 SETX NM_015046.5(SETX): c.5563A> G (p.Thr1855Ala) single nucleotide variant Benign rs2296871 GRCh38 Chromosome 9, 132298298: 132298298
45 SETX NM_015046.6(SETX): c.5781+12dup duplication Benign rs3831154 GRCh37 Chromosome 9, 135173455: 135173455
46 SETX NM_015046.6(SETX): c.5781+12dup duplication Benign rs3831154 GRCh38 Chromosome 9, 132298068: 132298068
47 SETX NM_015046.5(SETX): c.5811T> C (p.Asp1937=) single nucleotide variant Benign rs2296869 GRCh37 Chromosome 9, 135172412: 135172412
48 SETX NM_015046.5(SETX): c.5811T> C (p.Asp1937=) single nucleotide variant Benign rs2296869 GRCh38 Chromosome 9, 132297025: 132297025
49 SETX NM_015046.5(SETX): c.7759A> G (p.Ile2587Val) single nucleotide variant Benign rs1056899 GRCh37 Chromosome 9, 135139901: 135139901
50 SETX NM_015046.5(SETX): c.7759A> G (p.Ile2587Val) single nucleotide variant Benign rs1056899 GRCh38 Chromosome 9, 132264514: 132264514

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

Pathways related to Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia according to KEGG:

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# Name Kegg Source Accession
1 Base excision repair hsa03410
2 Nucleotide excision repair hsa03420
3 Homologous recombination hsa03440

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

# Super pathways Score Top Affiliating Genes
1 10.05 ACTA1 WAS

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:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.43 ACTA1 APTX SACS SETX TTPA WAS
2 actin filament GO:0005884 8.62 ACTA1 WAS

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

# Name GO ID Score Top Affiliating Genes
1 double-strand break repair GO:0006302 8.62 APTX SETX

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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