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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
3 OMIM references -
5 associated genes
No signs/symptoms info
Spinocerebellar ataxia type 29
Autoimmune lymphoproliferative syndrome

ITPR1 CASP10
FAS
FASLG
NRAS
PRKCD


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ITPR1
(0.56)
PRKCD



Citations in the biomedical literature:


Spinocerebellar ataxia type 29
ITPR1
Autoimmune lymphoproliferative syndrome
CASP10 FAS FASLG NRAS PRKCD



Spinocerebellar ataxia type 29
Autoimmune lymphoproliferative syndrome

Synonym(s):
- Congenital nonprogressive spinocerebellar ataxia
- SCA29

Synonym(s):
- ALPS
- Canale-Smith syndrome
- FAS deficiency

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease
- Rare immune disease
- Rare oncologic disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
3 OMIM references -
1 MeSH reference: D056735

No signs/symptoms info available.