Ataxia-oculomotor apraxia 3

Preferred Label : Ataxia-oculomotor apraxia 3;

Symbol : AOA3;

CISMeF acronym : AOA3;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the phosphatidylinositol 3-kinase, regulatory subunit 5 gene (PIK3R5, 611317.0001);

Laboratory abnormalities : Increased alpha-fetoprotein;

Prefixed ID : #615217;

Details

Origin ID

615217;

UMLS CUI

C3554690;

Currated CISMeF NLP mapping
- Ataxia-Oculomotor Apraxia Type 3 [NCIt concept]
- ataxia with oculomotor apraxia type 3 [DO Concept]
DO Cross reference
- ataxia with oculomotor apraxia type 3 [DO Concept]
Genes related to phenotype
- Phosphatidylinositol 3-kinase, regulatory subunit 5 [OMIM gene]
HPO term(s)
- Areflexia [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar atrophy [HPO term]
- Distal sensory impairment [HPO term]
- Dysarthria [HPO term]
- Dysmetria [HPO term]
- Frequent falls [HPO term]
- Hyporeflexia [HPO term]
- Muscle weakness [HPO term]
- Nystagmus [HPO term]
- Oculomotor apraxia [HPO term]
- Polyneuropathy [HPO term]
- Progressive [HPO term]
- Slow saccadic eye movements [HPO term]
ORDO concept(s)
- Spinocerebellar ataxia with axonal neuropathy type 2 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ataxia-Oculomotor Apraxia Type 3 [NCIt concept]
- ataxia with oculomotor apraxia type 3 [DO Concept]

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