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Ataxia - oculomotor apraxia type 1
1 OMIM reference -
1 associated gene
4 signs/symptoms
PROTEIN INTERACTIONS: 1
Familial pancreatic carcinoma
5 OMIM references -
8 associated genes
No signs/symptoms info
Ataxia - oculomotor apraxia type 1
Familial pancreatic carcinoma

APTX
(UniProt - OMIM)
 BRCA1
(UniProt - OMIM)
BRCA2
(UniProt - OMIM)
CDKN2A
(UniProt - OMIM)
KRAS
(UniProt - OMIM)
MANF
(UniProt - OMIM)
PALB2
(UniProt - OMIM)
SMAD4
(UniProt - OMIM)
TP53
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
APTX
(0.79)
TP53


Citations in the biomedical literature:


Ataxia - oculomotor apraxia type 1
APTX
Familial pancreatic carcinoma
BRCA1 BRCA2 CDKN2A KRAS MANF PALB2
SMAD4 TP53



Ataxia - oculomotor apraxia type 1
Familial pancreatic carcinoma

Synonym(s):
- AOA1
Synonym(s):
- Familial pancreatic cancer
Classification (Orphanet):
- Inborn errors of metabolism
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare gastroenterologic disease
- Rare genetic disease
- Rare oncologic disease
Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Neoplasms -
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
External references:
5 OMIM references -
1 MeSH reference: C535837
Ataxia - oculomotor apraxia type 1

Very frequent
- Abnormal gait
- Ataxia / incoordination / trouble of the equilibrium
- Flared eyebrows
- Functional anomalies of the nervous system



Familial pancreatic carcinoma

(no data available)