ATAXIA-OCULOMOTOR APRAXIA 3; AOA3

Question 1

What is  ATAXIA-OCULOMOTOR APRAXIA 3; AOA3?

Accepted Answer

very rare

autosomal recessive

mutation in the PIK3R5 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 615217

Question 3

Which enzymes are involved?

Accepted Answer

Phosphoinositide 3-kinase regulatory subunit 5

Disease	ATAXIA-OCULOMOTOR APRAXIA 3; AOA3
OMIM	615217 OMIM = Online Mendelian Inheritance of Men
Orphanet	---
Protein (UniProt)	Phosphoinositide 3-kinase regulatory subunit 5
Gene locus	17p13.1
ICD
Summary	very rare autosomal recessive mutation in the PIK3R5 gene
Laboratory findings	alpha-Fetoprotein inc (serum)
Symptoms	areflexia ataxia cerebellar atrophy or hypoplasia dysarthria eye movements, abnormal hyporeflexia muscle atrophy muscle weakness nystagmus onset, adolescent