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1 OMIM reference -
3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 4
1 OMIM reference -
3 associated genes
6 signs/symptoms
Generalized juvenile polyposis/juvenile polyposis coli
Brachydactyly type A2

BMPR1A BMP2
ENG BMPR1B
SMAD4 GDF5


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
BMPR1A
BMPR1A
BMPR1A
ENG
(0.9)
(0.89)
(0.75)
(0.73)
BMP2
GDF5
BMPR1B
BMP2



Citations in the biomedical literature:


Generalized juvenile polyposis/juvenile polyposis coli
BMPR1A ENG SMAD4
Brachydactyly type A2
BMP2 BMPR1B GDF5



Generalized juvenile polyposis/juvenile polyposis coli
Brachydactyly type A2

Synonym(s):
(no synonyms)

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: unknown
Average age onset: variable
Average age of death: -
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


Generalized juvenile polyposis/juvenile polyposis coli

(no data available)