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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
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Autoimmune lymphoproliferative syndrome

CREBBP CASP10
FAS
FASLG
NRAS
PRKCD


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CREBBP
(0.55)
PRKCD



Citations in the biomedical literature:


Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
CREBBP
Autoimmune lymphoproliferative syndrome
CASP10 FAS FASLG NRAS PRKCD



Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Autoimmune lymphoproliferative syndrome

Synonym(s):
(no synonyms)

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

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
- Rare renal disease
Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease
- Rare immune disease
- Rare oncologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

Epidemiological data:
(no data available)
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.