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1 OMIM reference -
3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
7 signs/symptoms
Generalized juvenile polyposis/juvenile polyposis coli
Foveal hypoplasia - presenile cataract

BMPR1A PAX6
ENG
SMAD4


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
SMAD4
(0.63)
PAX6



Citations in the biomedical literature:


Generalized juvenile polyposis/juvenile polyposis coli
BMPR1A ENG SMAD4
Foveal hypoplasia - presenile cataract
PAX6



Generalized juvenile polyposis/juvenile polyposis coli
Foveal hypoplasia - presenile cataract

Synonym(s):
(no synonyms)

Synonym(s):
- O'Donnell-Pappas syndrome

Classification (Orphanet):
- Rare gastroenterologic disease
- Rare genetic disease
- Rare oncologic disease
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease

Classification (ICD10):
- Neoplasms -
Classification (ICD10):
- Diseases of the eye and adnexa -

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: adulthood
Average age of death: normal
Type of inheritance: autosomal dominant

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

Foveal hypoplasia - presenile cataract

Very frequent
- Anomalies of eyes and vision
- Autosomal dominant inheritance
- Cataract / lens opacification
- Diffuse / generalised skin hyperpigmentation / melanoderma
- Nystagmus
- Optic nerve anomaly / optic atrophy / anomaly of the papilla

Frequent
- Strabismus / squint



Generalized juvenile polyposis/juvenile polyposis coli

(no data available)