MCID: ATX024
MIFTS: 40

Ataxia-Oculomotor Apraxia 3

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

Aliases & Classifications for Ataxia-Oculomotor Apraxia 3

MalaCards integrated aliases for Ataxia-Oculomotor Apraxia 3:

Name: Ataxia-Oculomotor Apraxia 3 57 12 75 29 13 6 73
Aoa3 57 75
Ataxia with Oculomotor Apraxia Type 3 12
Ataxia-Oculomotor Apraxia, Type 3 40
Ataxia-Oculomotor Apraxia-3 53
Cerebellar Ataxia 44

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset in first decade
one consanguineous family has been reported (last curated may 2013)


HPO:

32
ataxia-oculomotor apraxia 3:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Ataxia-Oculomotor Apraxia 3

OMIM : 57 AOA3 is an autosomal recessive progressive neurologic disorder with onset in the second decade of life (Al Tassan et al., 2012). For a discussion of genetic heterogeneity of ataxia-oculomotor apraxia, see AOA1 (208920). (615217)

MalaCards based summary : Ataxia-Oculomotor Apraxia 3, also known as aoa3, is related to cerebellar ataxia, deafness, and narcolepsy, autosomal dominant and cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1, and has symptoms including ataxia An important gene associated with Ataxia-Oculomotor Apraxia 3 is PIK3R5 (Phosphoinositide-3-Kinase Regulatory Subunit 5). Affiliated tissues include brain, eye and testes, and related phenotypes are nystagmus and dysarthria

UniProtKB/Swiss-Prot : 75 Ataxia-oculomotor apraxia 3: An autosomal recessive disease characterized by cerebellar ataxia, oculomotor apraxia, areflexia and peripheral neuropathy.

Related Diseases for Ataxia-Oculomotor Apraxia 3

Diseases in the Ataxia-Oculomotor Apraxia 3 family:

Ataxia-Oculomotor Apraxia 4

Diseases related to Ataxia-Oculomotor Apraxia 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 426)
# Related Disease Score Top Affiliating Genes
1 cerebellar ataxia, deafness, and narcolepsy, autosomal dominant 12.5
2 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 12.4
3 cerebellar ataxia and ectodermal dysplasia 12.3
4 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 12.3
5 cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss 12.3
6 myoclonus, cerebellar ataxia, and deafness 12.3
7 cerebellar ataxia, cayman type 12.3
8 autosomal dominant cerebellar ataxia 12.3
9 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 12.3
10 cerebellar ataxia, nonprogressive, with mental retardation 12.3
11 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 12.3
12 cerebellar ataxia, neuropathy, and vestibular areflexia syndrome 12.3
13 cognitive impairment with or without cerebellar ataxia 12.3
14 cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss 12.2
15 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 12.2
16 cerebellar ataxia, early-onset, with retained tendon reflexes 12.2
17 cerebellar ataxia, mental retardation and dysequlibrium syndrome 12.2
18 renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial dna 12.1
19 autosomal recessive cerebellar ataxia 12.1
20 cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome 12.1
21 spinocerebellar ataxia, autosomal recessive 8 12.1
22 gillespie syndrome 12.1
23 autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome 12.0
24 cerebellar ataxia and neurosensory deafness 12.0
25 syne1-related autosomal recessive cerebellar ataxia 12.0
26 gordon holmes syndrome 12.0
27 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 12.0
28 brachydactyly-nystagmus-cerebellar ataxia 12.0
29 cerebellar ataxia, benign, with thermoanalgesia 11.9
30 renal tubulopathy, diabetes mellitus, and cerebellar ataxia 11.9
31 cerebellar ataxia and hypergonadotropic hypogonadism 11.9
32 autosomal recessive cerebellar ataxia with late-onset spasticity 11.9
33 branchial myoclonus with spastic paraparesis and cerebellar ataxia 11.9
34 laryngeal abductor paralysis with cerebellar ataxia and motor neuropathy 11.9
35 spinocerebellar ataxia 7 11.9
36 spinocerebellar ataxia 13 11.9
37 coenzyme q10 deficiency, primary, 4 11.8
38 aceruloplasminemia 11.8
39 short-rib thoracic dysplasia 9 with or without polydactyly 11.8
40 spinocerebellar ataxia, autosomal recessive 18 11.7
41 spinocerebellar ataxia, x-linked 1 11.7
42 spinocerebellar ataxia 2 11.7
43 harding ataxia 11.7
44 marinesco-sjogren syndrome 11.6
45 spinocerebellar ataxia, autosomal recessive 12 11.6
46 spinocerebellar ataxia, autosomal recessive 15 11.6
47 spinocerebellar ataxia, autosomal recessive 17 11.6
48 spinocerebellar ataxia 27 11.6
49 spinocerebellar ataxia 29 11.6
50 spinocerebellar ataxia, autosomal recessive 21 11.6

Graphical network of the top 20 diseases related to Ataxia-Oculomotor Apraxia 3:



Diseases related to Ataxia-Oculomotor Apraxia 3

Symptoms & Phenotypes for Ataxia-Oculomotor Apraxia 3

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
oculomotor apraxia
slow saccades
impaired ocular movements
head-eye lag

Neurologic Peripheral Nervous System:
areflexia
hyporeflexia
axonal sensory polyneuropathy
distal sensory loss (predominantly in lower limbs)

Muscle Soft Tissue:
distal muscle atrophy, predominantly lower limbs
distal muscle weakness, predominantly lower limbs

Neurologic Central Nervous System:
ataxia
dysarthria
dysmetria
cerebellar atrophy
frequent falls
more
Laboratory Abnormalities:
increased alpha-fetoprotein


Clinical features from OMIM:

615217

Human phenotypes related to Ataxia-Oculomotor Apraxia 3:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 dysarthria 32 HP:0001260
3 dysmetria 32 HP:0001310
4 areflexia 32 HP:0001284
5 hyporeflexia 32 HP:0001265
6 cerebellar atrophy 32 HP:0001272
7 oculomotor apraxia 32 HP:0000657
8 frequent falls 32 HP:0002359
9 slow saccadic eye movements 32 HP:0000514
10 distal sensory impairment 32 HP:0002936

UMLS symptoms related to Ataxia-Oculomotor Apraxia 3:


ataxia

Drugs & Therapeutics for Ataxia-Oculomotor Apraxia 3

Search Clinical Trials , NIH Clinical Center for Ataxia-Oculomotor Apraxia 3

Cochrane evidence based reviews: cerebellar ataxia

Genetic Tests for Ataxia-Oculomotor Apraxia 3

Genetic tests related to Ataxia-Oculomotor Apraxia 3:

# Genetic test Affiliating Genes
1 Ataxia-Oculomotor Apraxia 3 29 PIK3R5

Anatomical Context for Ataxia-Oculomotor Apraxia 3

MalaCards organs/tissues related to Ataxia-Oculomotor Apraxia 3:

41
Brain, Eye, Testes, Liver, Skin, T Cells, Cerebellum

Publications for Ataxia-Oculomotor Apraxia 3

Articles related to Ataxia-Oculomotor Apraxia 3:

(show top 50) (show all 816)
# Title Authors Year
1
A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiency. ( 29044765 )
2018
2
Identification of specific gait patterns in patients with cerebellar ataxia, spastic paraplegia, and Parkinson's disease: A non-hierarchical cluster analysis. ( 28967438 )
2018
3
Clinical Reasoning: Progressive cognitive decline, cerebellar ataxia, recurrent myoclonus, and epilepsy. ( 29760005 )
2018
4
Cerebellar Ataxia With Neuropathy and Vestibular Areflexia Syndrome Presenting With Neurotrophic Keratopathy. ( 29474200 )
2018
5
Novel mutations in the ALDH18A1 gene in complicated hereditary spastic paraplegia with cerebellar ataxia and cognitive impairment. ( 29915212 )
2018
6
Acute Cerebellar Ataxia Associated with Anti-glutamic Acid Decarboxylase Antibodies Mimicking Miller Fisher Syndrome. ( 29093402 )
2018
7
Lambert-Eaton myasthenic syndrome and cerebellar ataxia: Is response to immunotherapy a clue to pathogenesis? ( 29365352 )
2018
8
Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia. ( 29656859 )
2018
9
Cerebellar ataxia as a first manifestation of Creutzfeldt-Jakob disease in two cousins. ( 29434023 )
2018
10
Superficial bedside brain biopsy can be a safe and practical approach to confirm a rare form of prion disease in cerebellar ataxia: A case study. ( 28320192 )
2017
11
Can Therapeutic-Range Chronic Phenytoin Administration Cause Cerebellar Ataxia? ( 28775951 )
2017
12
SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families. ( 28558379 )
2017
13
Clinical characteristics of patients with cerebellar ataxia associated with anti-GAD antibodies. ( 28355320 )
2017
14
From dizziness to severe ataxia and dysarthria: New cases of anti-Ca/ARHGAP26 autoantibody-associated cerebellar ataxia suggest a broad clinical spectrum. ( 28601293 )
2017
15
Paraneoplastic cerebellar ataxia with central hypoventilation. ( 27990459 )
2017
16
De novo p.T362R mutation in MORC2 causes early onset cerebellar ataxia, axonal polyneuropathy and nocturnal hypoventilation. ( 28402445 )
2017
17
Supporting a Youth with Cerebellar Ataxia into Adolescence. ( 28323747 )
2017
18
Progressive hearing loss and cerebellar ataxia in anti-Ma2-associated autoimmune encephalitis. ( 28099568 )
2017
19
Autosomal Recessive Cerebellar Ataxia type 1 mimicking multiple sclerosis: A report of two siblings with a novel mutation in SYNE1 gene in a Saudi family. ( 28017257 )
2017
20
Comparison of imaging using (11)C-ITMM and (18)F-FDG for the detection of cerebellar ataxia. ( 28320199 )
2017
21
Cerebellar ataxia associated with anti-glutamic acid decarboxylase (anti-GAD) autoantibodies: a rare and puzzling disease. ( 28355318 )
2017
22
A SINE Insertion in ATP1B2 in Belgian Shepherd Dogs Affected by Spongy Degeneration with Cerebellar Ataxia (SDCA2). ( 28620085 )
2017
23
Different subregional metabolism patterns in patients with cerebellar ataxia by 18F-fluorodeoxyglucose positron emission tomography. ( 28319124 )
2017
24
VEMPs in a patient with cerebellar ataxia, neuropathy and vestibular areflexia (CANVAS). ( 28566187 )
2017
25
Adult Onset Sporadic Cerebellar Ataxia in Singapore: Diagnostic Outcomes of Paraneoplastic Antibody Testing and Early Clinical Features of Paraneoplastic Cerebellar Degeneration. ( 28417137 )
2017
26
Xeroderma pigmentosum complementation group F: A rare cause of cerebellar ataxia with chorea. ( 28431612 )
2017
27
Effects of acetyl-DL-leucine on cerebellar ataxia (ALCAT trial): study protocol for a multicenter, multinational, randomized, double-blind, placebo-controlled, crossover phase III trial. ( 28068987 )
2017
28
The c-Abl inhibitor, nilotinib, as a potential therapeutic agent for chronic cerebellar ataxia. ( 28601294 )
2017
29
Progressive Supranuclear Gaze Palsy with Predominant Cerebellar Ataxia: A Case Series with Videos. ( 28415165 )
2017
30
The meanings of physiotherapy and exercise for people living with progressive cerebellar ataxia: an interpretative phenomenological analysis. ( 28166646 )
2017
31
Cerebellar ataxia and sensory ganglionopathy associated with light-chain myeloma. ( 28074147 )
2017
32
Longitudinal analysis of motor symptoms and histopathology in woozy mice, a model of cerebellar ataxia. ( 28723727 )
2017
33
TGM6 gene mutations in undiagnosed cerebellar ataxia patients. ( 28927799 )
2017
34
West Nile virus (WNV) presenting as acute cerebellar ataxia in an immunocompetent patient. ( 28377090 )
2017
35
A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies. ( 28444220 )
2017
36
Harmony as a convergence attractor that minimizes the energy expenditure and variability in physiological gait and the loss of harmony in cerebellar ataxia. ( 28704694 )
2017
37
Homozygous c.359del variant in MGME1 is associated with early onset cerebellar ataxia. ( 28711739 )
2017
38
Compound Heterozygous Inheritance of Mutations in Coenzyme Q8A Results in Autosomal Recessive Cerebellar Ataxia and Coenzyme Q<sub>10</sub>Deficiency in a Female Sib-Pair. ( 29159460 )
2017
39
Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders. ( 28179632 )
2017
40
Preventive motor training but not progenitor grafting ameliorates cerebellar ataxia and deregulated autophagy in tambaleante mice. ( 28237314 )
2017
41
Cerebellar ataxia and obstructive hydrocephalus, rare neurologic presentations in patients with systemic lupus erythematosus. ( 28707035 )
2017
42
A novel frameshift mutation of<i>SYNE1</i>in a Japanese family with autosomal recessive cerebellar ataxia type 8. ( 29081981 )
2017
43
Recent advances in modelling of cerebellar ataxia using induced pluripotent stem cells. ( 28825058 )
2017
44
Cerebellar ataxia and intrathecal baclofen therapy: Focus on patientsA' experiences. ( 28654671 )
2017
45
SYNE1 related cerebellar ataxia presents with variable phenotypes in a consanguineous family from Turkey. ( 28687974 )
2017
46
XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia. ( 28002403 )
2017
47
Novel De Novo KCND3 Mutation in a Japanese Patient with Intellectual Disability, Cerebellar Ataxia, Myoclonus, and Dystonia. ( 28895081 )
2017
48
Low-Titre GAD Antibody-Associated Late-Onset Cerebellar Ataxia with a Significant Clinical Response to Intravenous Immunoglobulin Treatment. ( 28321713 )
2017
49
Spinal anaesthesia for a caesarean section in a patient with paraneoplastic cerebellar ataxia. ( 28515524 )
2017
50
A family with hereditary cerebellar ataxia finally confirmed as Gerstmann-Straussler-Scheinker syndrome with P102L mutation in PRNP gene. ( 28416787 )
2017

Variations for Ataxia-Oculomotor Apraxia 3

UniProtKB/Swiss-Prot genetic disease variations for Ataxia-Oculomotor Apraxia 3:

75
# Symbol AA change Variation ID SNP ID
1 PIK3R5 p.Pro629Ser VAR_067052 rs61761068

ClinVar genetic disease variations for Ataxia-Oculomotor Apraxia 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PIK3R5 NM_001142633.2(PIK3R5): c.1885C> T (p.Pro629Ser) single nucleotide variant Pathogenic rs61761068 GRCh37 Chromosome 17, 8790433: 8790433
2 PIK3R5 NM_001142633.2(PIK3R5): c.1885C> T (p.Pro629Ser) single nucleotide variant Pathogenic rs61761068 GRCh38 Chromosome 17, 8887116: 8887116

Expression for Ataxia-Oculomotor Apraxia 3

Search GEO for disease gene expression data for Ataxia-Oculomotor Apraxia 3.

Pathways for Ataxia-Oculomotor Apraxia 3

GO Terms for Ataxia-Oculomotor Apraxia 3

Sources for Ataxia-Oculomotor Apraxia 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
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32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
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44 MeSH
45 MESH via Orphanet
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49 NCI
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51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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