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1 OMIM reference -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 OMIM references -
2 associated genes
8 signs/symptoms
Juvenile polyposis of infancy
X-linked lymphoproliferative disease

BMPR1A SH2D1A
PTEN XIAP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PTEN
(0.75)
XIAP



Citations in the biomedical literature:


Juvenile polyposis of infancy
BMPR1A PTEN
X-linked lymphoproliferative disease
SH2D1A XIAP



Juvenile polyposis of infancy
X-linked lymphoproliferative disease

Synonym(s):
- Infantile juvenile polyposis syndrome

Synonym(s):
- Duncan disease
- Purtilo syndrome
- XLP

Classification (Orphanet):
- Rare gastroenterologic disease
- Rare genetic disease
- Rare oncologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
- Rare oncologic disease

Classification (ICD10):
- Neoplasms -
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: before age 5
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: x-linked recessive

External references:
1 OMIM reference -
No MeSH references
External references:
2 OMIM references -
1 MeSH reference: D008232

X-linked lymphoproliferative disease

Very frequent
- T-cell deficiency / cellular immunity deficiency
- X-linked recessive inheritance

Frequent
- Agammaglobulinemia / hypogammaglobulinemia / B-cell deficiency
- Hepatomegaly / liver enlargement (excluding storage disease)
- Lymphadenopathy / polyadenopathies
- Lymphoma
- Splenomegaly

Occasional
- Anaemia


Juvenile polyposis of infancy

(no data available)