AOA
MCID: ATX029
MIFTS: 43

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 57 13 40 73
Aoa1 57 24 53 59 75
Ataxia-Oculomotor Apraxia Type 1 53 59 29 6
Eoca-Ha 57 53 75 55
Eaoh 57 53 25 75
Ataxia with Oculomotor Apraxia Type 1 12 24 15
Ataxia-Telangiectasia-Like Syndrome 57 53 37
Ataxia-Oculomotor Apraxia 1 57 53 75
Ataxia-Oculomotor Apraxia Syndrome 57 75
Ataxia with Oculomotor Apraxia 25 6
Aoa 57 75
Early-Onset Ataxia with Ocular Motor Apraxia and Hypoalbuminemia 25
Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia 53
Ataxia Early-Onset with Oculomotor Apraxia and Hypoalbuminemia 75
Cerebellar Ataxia, Early-Onset, with Hypoalbuminemia; Eoca-Ha 57
Spinocerebellar Ataxia, Recessive, Non-Friedreich Type 1 25
Cerebellar Ataxia, Early-Onset, with Hypoalbuminemia 57
Spinocerebellar Ataxia with Axonal Neuropathy Type 2 25
Early-Onset Cerebellar Ataxia with Hypoalbuminemia 53
Cerebellar Ataxia Early-Onset with Hypoalbuminemia 75
Spinocerebellar Ataxia, Autosomal Recessive 1 73
Adult Onset Ataxia with Oculomotor Apraxia 25
Ataxia-Oculomotor Apraxia Syndrome; Aoa 57
Ataxia-Oculomotor Apraxia 1; Aoa1 57
Scar1 25
Scan2 25

Characteristics:

Orphanet epidemiological data:

59
ataxia-oculomotor apraxia type 1
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

57
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:

32
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 : 53 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

Genetics Home Reference : 25 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 : 57 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 : 75 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 via clinical synopsis from OMIM:

57
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

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

59 32 (show all 32)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001251
2 gait disturbance 59 32 hallmark (90%) Very frequent (99-80%) HP:0001288
3 peripheral neuropathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0009830
4 medial flaring of the eyebrow 59 32 hallmark (90%) Very frequent (99-80%) HP:0010747
5 dysarthria 32 HP:0001260
6 muscle weakness 32 HP:0001324
7 tremor 32 HP:0001337
8 scoliosis 32 HP:0002650
9 cognitive impairment 32 HP:0100543
10 gait ataxia 32 HP:0002066
11 limb ataxia 32 HP:0002070
12 pes cavus 32 HP:0001761
13 dystonia 32 HP:0001332
14 progressive external ophthalmoplegia 32 HP:0000590
15 dementia 32 HP:0000726
16 abnormality of the nervous system 59 Very frequent (99-80%)
17 areflexia 32 HP:0001284
18 hypercholesterolemia 32 HP:0003124
19 mental deterioration 32 occasional (7.5%) HP:0001268
20 hyporeflexia 32 HP:0001265
21 choreoathetosis 32 very rare (1%) HP:0001266
22 truncal ataxia 32 HP:0002078
23 cerebellar atrophy 32 HP:0001272
24 oculomotor apraxia 32 HP:0000657
25 distal amyotrophy 32 HP:0003693
26 hypometric saccades 32 HP:0000571
27 hypoalbuminemia 32 HP:0003073
28 distal sensory impairment 32 HP:0002936
29 gaze-evoked nystagmus 32 HP:0000640
30 decreased number of large peripheral myelinated nerve fibers 32 HP:0003387
31 axonal degeneration 32 HP:0040078
32 peripheral axonal degeneration 32 HP:0000764

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 8)
# 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 Complement System Proteins Phase 3
4 Trace Elements Phase 3
5 Micronutrients Phase 3
6 Vitamins Phase 3
7 Ubiquinone Phase 3
8 Lecithin 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 29 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:

41
Eye, Testes

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

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

# Title Authors Year
1
Ataxia Oculomotor Apraxia Type 1 in the Siblings of a Family: A Novel Mutation. ( 28277561 )
2017
2
Comparing ataxias with oculomotor apraxia: a multimodal study of AOA1, AOA2 and AT focusing on video-oculography and alpha-fetoprotein. ( 29127364 )
2017
3
Atypical presentation of ataxia-oculomotor apraxia type 1. ( 16700949 )
2006

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:

75
# 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 APTX NM_175073.2(APTX): c.689dupT (p.Glu232Glyfs) duplication Pathogenic rs587776593 GRCh37 Chromosome 9, 32984710: 32984710
2 APTX NM_175073.2(APTX): c.689dupT (p.Glu232Glyfs) duplication Pathogenic rs587776593 GRCh38 Chromosome 9, 32984712: 32984712
3 APTX NM_175073.2(APTX): c.617C> T (p.Pro206Leu) single nucleotide variant Pathogenic rs121908131 GRCh37 Chromosome 9, 32984782: 32984782
4 APTX NM_175073.2(APTX): c.617C> T (p.Pro206Leu) single nucleotide variant Pathogenic rs121908131 GRCh38 Chromosome 9, 32984784: 32984784
5 APTX NM_175073.2(APTX): c.840delT (p.Ser281Leufs) deletion Pathogenic rs587776594 GRCh37 Chromosome 9, 32974490: 32974490
6 APTX NM_175073.2(APTX): c.840delT (p.Ser281Leufs) deletion Pathogenic rs587776594 GRCh38 Chromosome 9, 32974492: 32974492
7 APTX NM_175073.2(APTX): c.788T> G (p.Val263Gly) single nucleotide variant Pathogenic rs121908132 GRCh37 Chromosome 9, 32974542: 32974542
8 APTX NM_175073.2(APTX): c.788T> G (p.Val263Gly) single nucleotide variant Pathogenic rs121908132 GRCh38 Chromosome 9, 32974544: 32974544
9 APTX NM_175073.2(APTX): c.602A> G (p.His201Arg) single nucleotide variant Pathogenic rs121908133 GRCh37 Chromosome 9, 32984797: 32984797
10 APTX NM_175073.2(APTX): c.602A> G (p.His201Arg) single nucleotide variant Pathogenic rs121908133 GRCh38 Chromosome 9, 32984799: 32984799
11 APTX APTX, IVS7AS, G-A, -1 single nucleotide variant Pathogenic
12 APTX NM_175073.2(APTX): c.837G> A (p.Trp279Ter) single nucleotide variant Pathogenic rs104894103 GRCh37 Chromosome 9, 32974493: 32974493
13 APTX NM_175073.2(APTX): c.837G> A (p.Trp279Ter) single nucleotide variant Pathogenic rs104894103 GRCh38 Chromosome 9, 32974495: 32974495
14 APTX NC_000009.12: g.(?_32973498)_(33001604_?)del deletion Pathogenic GRCh38 Chromosome 9, 32973498: 33001604
15 APTX NM_175073.2(APTX): c.668T> C (p.Leu223Pro) single nucleotide variant Pathogenic rs267606665 GRCh37 Chromosome 9, 32984731: 32984731
16 APTX NM_175073.2(APTX): c.668T> C (p.Leu223Pro) single nucleotide variant Pathogenic rs267606665 GRCh38 Chromosome 9, 32984733: 32984733
17 SETX NM_015046.5(SETX): c.1077T> C (p.Tyr359=) single nucleotide variant Benign rs9411449 GRCh37 Chromosome 9, 135206460: 135206460
18 SETX NM_015046.5(SETX): c.1077T> C (p.Tyr359=) single nucleotide variant Benign rs9411449 GRCh38 Chromosome 9, 132331073: 132331073
19 SETX NM_015046.5(SETX): c.1979C> G (p.Ala660Gly) single nucleotide variant Benign rs882709 GRCh37 Chromosome 9, 135205006: 135205006
20 SETX NM_015046.5(SETX): c.1979C> G (p.Ala660Gly) single nucleotide variant Benign rs882709 GRCh38 Chromosome 9, 132329619: 132329619
21 SETX NM_015046.5(SETX): c.3455T> G (p.Phe1152Cys) single nucleotide variant Benign/Likely benign rs3739922 GRCh37 Chromosome 9, 135203530: 135203530
22 SETX NM_015046.5(SETX): c.3455T> G (p.Phe1152Cys) single nucleotide variant Benign/Likely benign rs3739922 GRCh38 Chromosome 9, 132328143: 132328143
23 SETX NM_015046.5(SETX): c.3576T> G (p.Asp1192Glu) single nucleotide variant Benign rs1185193 GRCh37 Chromosome 9, 135203409: 135203409
24 SETX NM_015046.5(SETX): c.3576T> G (p.Asp1192Glu) single nucleotide variant Benign rs1185193 GRCh38 Chromosome 9, 132328022: 132328022
25 SETX NM_015046.5(SETX): c.3754G> A (p.Gly1252Arg) single nucleotide variant Benign rs1183768 GRCh37 Chromosome 9, 135203231: 135203231
26 SETX NM_015046.5(SETX): c.3754G> A (p.Gly1252Arg) single nucleotide variant Benign rs1183768 GRCh38 Chromosome 9, 132327844: 132327844
27 SETX NM_015046.5(SETX): c.4156A> G (p.Ile1386Val) single nucleotide variant Benign rs543573 GRCh37 Chromosome 9, 135202829: 135202829
28 SETX NM_015046.5(SETX): c.4156A> G (p.Ile1386Val) single nucleotide variant Benign rs543573 GRCh38 Chromosome 9, 132327442: 132327442
29 SETX NM_015046.5(SETX): c.5563A> G (p.Thr1855Ala) single nucleotide variant Benign rs2296871 GRCh37 Chromosome 9, 135173685: 135173685
30 SETX NM_015046.5(SETX): c.5563A> G (p.Thr1855Ala) single nucleotide variant Benign rs2296871 GRCh38 Chromosome 9, 132298298: 132298298
31 SETX NM_015046.6(SETX): c.5781+12dup duplication Benign rs3831154 GRCh37 Chromosome 9, 135173455: 135173455
32 SETX NM_015046.6(SETX): c.5781+12dup duplication Benign rs3831154 GRCh38 Chromosome 9, 132298068: 132298068
33 SETX NM_015046.5(SETX): c.5811T> C (p.Asp1937=) single nucleotide variant Benign rs2296869 GRCh37 Chromosome 9, 135172412: 135172412
34 SETX NM_015046.5(SETX): c.5811T> C (p.Asp1937=) single nucleotide variant Benign rs2296869 GRCh38 Chromosome 9, 132297025: 132297025
35 SETX NM_015046.5(SETX): c.7759A> G (p.Ile2587Val) single nucleotide variant Benign rs1056899 GRCh37 Chromosome 9, 135139901: 135139901
36 SETX NM_015046.5(SETX): c.7759A> G (p.Ile2587Val) single nucleotide variant Benign rs1056899 GRCh38 Chromosome 9, 132264514: 132264514
37 APTX NM_175073.2(APTX): c.484-13G> T single nucleotide variant Benign rs10123944 GRCh37 Chromosome 9, 32986041: 32986041
38 APTX NM_175073.2(APTX): c.484-13G> T single nucleotide variant Benign rs10123944 GRCh38 Chromosome 9, 32986043: 32986043
39 APTX NM_175073.2(APTX): c.971A> T (p.Gln324Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs141493373 GRCh37 Chromosome 9, 32973554: 32973554
40 APTX NM_175073.2(APTX): c.971A> T (p.Gln324Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs141493373 GRCh38 Chromosome 9, 32973556: 32973556
41 SETX NM_015046.5(SETX): c.7640T> C (p.Ile2547Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs151117904 GRCh37 Chromosome 9, 135140020: 135140020
42 SETX NM_015046.5(SETX): c.7640T> C (p.Ile2547Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs151117904 GRCh38 Chromosome 9, 132264633: 132264633
43 SETX NM_015046.5(SETX): c.59G> A (p.Arg20His) single nucleotide variant Benign/Likely benign rs79740039 GRCh38 Chromosome 9, 132349370: 132349370
44 SETX NM_015046.5(SETX): c.59G> A (p.Arg20His) single nucleotide variant Benign/Likely benign rs79740039 GRCh37 Chromosome 9, 135224757: 135224757
45 SETX NM_015046.5(SETX): c.3809C> T (p.Pro1270Leu) single nucleotide variant Likely benign rs144334281 GRCh38 Chromosome 9, 132327789: 132327789
46 SETX NM_015046.5(SETX): c.3809C> T (p.Pro1270Leu) single nucleotide variant Likely benign rs144334281 GRCh37 Chromosome 9, 135203176: 135203176
47 SETX NM_015046.5(SETX): c.3147C> T (p.His1049=) single nucleotide variant Benign/Likely benign rs3739921 GRCh37 Chromosome 9, 135203838: 135203838
48 SETX NM_015046.5(SETX): c.3147C> T (p.His1049=) single nucleotide variant Benign/Likely benign rs3739921 GRCh38 Chromosome 9, 132328451: 132328451
49 SETX NM_015046.5(SETX): c.7834A> G (p.Ser2612Gly) single nucleotide variant Benign rs3739927 GRCh37 Chromosome 9, 135139826: 135139826
50 SETX NM_015046.5(SETX): c.7834A> G (p.Ser2612Gly) single nucleotide variant Benign rs3739927 GRCh38 Chromosome 9, 132264439: 132264439

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:

37
# 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

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