ATAXIA-OCULOMOTOR APRAXIA 3

General Information (adopted from Orphanet):

Synonyms, Signs: AOA3
Number of Symptoms 20
OrphanetNr:
OMIM Id: 615217
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000639) Nystagmus 555 / 7739
2
(HPO:0000514) Slow saccadic eye movements 21 / 7739
3
(HPO:0000657) Oculomotor apraxia 54 / 7739
4
(HPO:0002936) Distal sensory impairment 96 / 7739
5
(HPO:0001265) Hyporeflexia 208 / 7739
6
(HPO:0002359) Frequent falls 24 / 7739
7
(HPO:0001310) Dysmetria 76 / 7739
8
(HPO:0001284) Areflexia 198 / 7739
9
(HPO:0001251) Ataxia 413 / 7739
10
(HPO:0001260) Dysarthria 329 / 7739
11
(OMIM) Head-eye lag 1 / 7739
12
(OMIM) [DEL]Unstable gait 4 / 7739
13
(HPO:0001272) Cerebellar atrophy 197 / 7739
14
(OMIM) Axonal sensory polyneuropathy 4 / 7739
15
(OMIM) Impaired ocular movements 1 / 7739
16
(OMIM) Distal muscle weakness, predominantly lower limbs 1 / 7739
17
(OMIM) Distal muscle atrophy, predominantly lower limbs 1 / 7739
18
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
19
(OMIM) Increased alpha-fetoprotein 5 / 7739
20
(HPO:0003676) Progressive disorder 148 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Al Tassan et al. (2012) reported 4 sibs, born of consanguineous Saudi Arabian parents, with ataxia-oculomotor apraxia. The proband developed progressive unsteady gait and had frequent falls at age 14 years with later onset of arm dysmetria and ...
Molecular genetics OMIM In affected members of a family with AOA3, Al Tassan et al. (2012) identified a homozygous mutation in the PIK3R5 gene (P629S; 611317.0001). The mutation was found by linkage analysis followed by sequencing of the genes within the ...