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1 OMIM reference -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
9 OMIM references -
8 associated genes
No signs/symptoms info
Juvenile polyposis of infancy
Colobomatous microphthalmia

BMPR1A ABCB6
PTEN GDF3
GDF6
SHH
SOX2
STRA6
TENM3
VSX2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
BMPR1A
(0.75)
GDF6



Citations in the biomedical literature:


Juvenile polyposis of infancy
BMPR1A PTEN
Colobomatous microphthalmia
ABCB6 GDF3 GDF6 SHH SOX2 STRA6
TENM3 VSX2



Juvenile polyposis of infancy
Colobomatous microphthalmia

Synonym(s):
- Infantile juvenile polyposis syndrome

Synonym(s):
- MAC
- Microphthalmia - anophthalmia - coloboma
- Microphthalmia with colobomatous cyst

Classification (Orphanet):
- Rare gastroenterologic disease
- Rare genetic disease
- Rare oncologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- 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:
(no data available)

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

No signs/symptoms info available.