AOA3
MCID: ATX024
MIFTS: 21

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 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

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, 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 : 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

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 12)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 dysarthria 32 HP:0001260
3 muscle weakness 32 HP:0001324
4 dysmetria 32 HP:0001310
5 areflexia 32 HP:0001284
6 hyporeflexia 32 HP:0001265
7 cerebellar atrophy 32 HP:0001272
8 oculomotor apraxia 32 HP:0000657
9 frequent falls 32 HP:0002359
10 polyneuropathy 32 HP:0001271
11 slow saccadic eye movements 32 HP:0000514
12 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

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
Eye

Publications for Ataxia-Oculomotor Apraxia 3

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
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
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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