Cytoscape Web
Click node...


1 OMIM reference -
3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
3 OMIM references -
2 associated genes
13 signs/symptoms
Generalized juvenile polyposis/juvenile polyposis coli
Brachydactyly type A1

BMPR1A GDF5
ENG IHH
SMAD4


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Generalized juvenile polyposis/juvenile polyposis coli
BMPR1A ENG SMAD4
Brachydactyly type A1
GDF5 IHH



Generalized juvenile polyposis/juvenile polyposis coli
Brachydactyly type A1

Synonym(s):
(no synonyms)

Synonym(s):
- Brachydactyly, Farabee 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: 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:
3 OMIM references -
1 MeSH reference: C537088

Brachydactyly type A1

Very frequent
- Autosomal dominant inheritance
- Short big toe
- Short foot / brachydactyly of toes
- Short hand / brachydactyly
- Short stature / dwarfism / nanism
- Thumb hypoplasia / aplasia / absence

Frequent
- Cone epiphyses / epiphysis

Occasional
- Clinodactyly of fifth finger
- Metacarpal anomalies / Archibald's sign
- Scoliosis
- Symphalangy of fingers
- Talipes-varus / metatarsal varus
- Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray


Generalized juvenile polyposis/juvenile polyposis coli

(no data available)