AOA3
MCID: ATX024
MIFTS: 22

Ataxia-Oculomotor Apraxia 3 (AOA3)

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

Aliases & Classifications for Ataxia-Oculomotor Apraxia 3

MalaCards integrated aliases for Ataxia-Oculomotor Apraxia 3:

Name: Ataxia-Oculomotor Apraxia 3 58 12 54 76 30 13 6 74
Aoa3 58 54 76
Ataxia with Oculomotor Apraxia Type 3 12 54
Ataxia-Oculomotor Apraxia, Type 3 41
Aaxia-Oculomotor Apraxia-3 54

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
ataxia-oculomotor apraxia 3:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Ataxia-Oculomotor Apraxia 3

OMIM : 58 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, is also known as aoa3, 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 eye, and related phenotypes are nystagmus and dysarthria

UniProtKB/Swiss-Prot : 76 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 4 family:

Ataxia-Oculomotor Apraxia 3

Symptoms & Phenotypes for Ataxia-Oculomotor Apraxia 3

Human phenotypes related to Ataxia-Oculomotor Apraxia 3:

33 (show all 12)
# Description HPO Frequency HPO Source Accession
1 nystagmus 33 HP:0000639
2 dysarthria 33 HP:0001260
3 muscle weakness 33 HP:0001324
4 dysmetria 33 HP:0001310
5 areflexia 33 HP:0001284
6 hyporeflexia 33 HP:0001265
7 cerebellar atrophy 33 HP:0001272
8 oculomotor apraxia 33 HP:0000657
9 frequent falls 33 HP:0002359
10 polyneuropathy 33 HP:0001271
11 slow saccadic eye movements 33 HP:0000514
12 distal sensory impairment 33 HP:0002936

Symptoms via clinical synopsis from OMIM:

58
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

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

Genetic Tests for Ataxia-Oculomotor Apraxia 3

Genetic tests related to Ataxia-Oculomotor Apraxia 3:

# Genetic test Affiliating Genes
1 Ataxia-Oculomotor Apraxia 3 30 PIK3R5

Anatomical Context for Ataxia-Oculomotor Apraxia 3

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

42
Eye

Publications for Ataxia-Oculomotor Apraxia 3

Articles related to Ataxia-Oculomotor Apraxia 3:

# Title Authors Year
1
Increased oxidative stress in AOA3 cells disturbs ATM-dependent DNA damage responses. ( 25868131 )
2015
2
A missense mutation in PIK3R5 gene in a family with ataxia and oculomotor apraxia. ( 22065524 )
2012

Variations for Ataxia-Oculomotor Apraxia 3

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

76
# 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 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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