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1 OMIM reference -
3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 2
1 OMIM reference -
2 associated genes
11 signs/symptoms
Generalized juvenile polyposis/juvenile polyposis coli
Brachydactyly type C

BMPR1A BMPR1B
ENG GDF5
SMAD4


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


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



Generalized juvenile polyposis/juvenile polyposis coli
Brachydactyly type C

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: unknown
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: C537093

Brachydactyly type C

Very frequent
- Autosomal dominant inheritance
- Metacarpal anomalies / Archibald's sign
- Short hand / brachydactyly
- Ulnar deviation of fingers

Frequent
- Cone epiphyses / epiphysis
- Short foot / brachydactyly of toes
- Thin / hypoplastic / hyperconvex fingernails

Occasional
- Clinodactyly of fifth finger
- Short stature / dwarfism / nanism
- Symphalangy of fingers
- Talipes-valgus


Generalized juvenile polyposis/juvenile polyposis coli

(no data available)