Ataxia-oculomotor apraxia 4

Preferred Label : Ataxia-oculomotor apraxia 4;

Symbol : AOA4;

CISMeF acronym : AOA4;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the polynucleotide kinase 3-prime phosphatase gene (PNKP, 605610.0002);

Laboratory abnormalities : Increased cholesterol (in some patients); Increased alpha-fetoprotein (in some patients);

Prefixed ID : #616267;

Détails

Origin ID

616267;

UMLS CUI

C4225397;

Automatic exact mappings (from CISMeF team)
- Ataxia-oculomotor apraxia type 4 [ORDO Disease]
Genes related to phenotype
- Polynucleotide kinase 3-prime phosphatase [OMIM gene]
HPO term(s)
- Areflexia [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar atrophy [HPO term]
- Cognitive impairment [HPO term]
- Dystonia [HPO term]
- Oculomotor apraxia [HPO term]
- Peripheral neuropathy [HPO term]
- Rapidly progressive [HPO term]
- Tetraplegia [HPO term]
ORDO concept(s)
- Ataxia-oculomotor apraxia type 4 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Position du mot-clé dans l'(les) arborescence(s) :

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