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1 OMIM reference -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 3
1 OMIM reference -
3 associated genes
6 signs/symptoms
Juvenile polyposis of infancy
Brachydactyly type A2

BMPR1A BMP2
PTEN BMPR1B
GDF5


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
BMPR1A
BMPR1A
BMPR1A
(0.9)
(0.89)
(0.75)
BMP2
GDF5
BMPR1B



Citations in the biomedical literature:


Juvenile polyposis of infancy
BMPR1A PTEN
Brachydactyly type A2
BMP2 BMPR1B GDF5



Juvenile polyposis of infancy
Brachydactyly type A2

Synonym(s):
- Infantile juvenile polyposis syndrome

Synonym(s):
- Brachydactyly, Mohr-Wriedt type

Classification (Orphanet):
- Rare gastroenterologic disease
- Rare genetic disease
- Rare oncologic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease

Classification (ICD10):
- Neoplasms -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

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: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C537089

Brachydactyly type A2

Very frequent
- Autosomal dominant inheritance
- Short hand / brachydactyly

Frequent
- Clinodactyly of fifth finger
- Short foot / brachydactyly of toes

Occasional
- Metacarpal anomalies / Archibald's sign
- Terminal / third phalangeal bone of fingers hypoplasia


Juvenile polyposis of infancy

(no data available)