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1 OMIM reference -
3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
23 signs/symptoms
Generalized juvenile polyposis/juvenile polyposis coli
Microphthalmia with brain and digit anomalies

BMPR1A BMP4
ENG
SMAD4


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
BMPR1A
(0.89)
BMP4



Citations in the biomedical literature:


Generalized juvenile polyposis/juvenile polyposis coli
BMPR1A ENG SMAD4
Microphthalmia with brain and digit anomalies
BMP4



Generalized juvenile polyposis/juvenile polyposis coli
Microphthalmia with brain and digit anomalies

Synonym(s):
(no synonyms)

Synonym(s):
- Bakrania-Ragge syndrome
- MCOPS6
- Syndromic microphthalmia type 6

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: unknown
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)

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

Microphthalmia with brain and digit anomalies

Very frequent
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia

Frequent
- Cataract / lens opacification
- Coloboma of iris
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Microcornea
- Retinoschisis / retinal / chorioretinal coloboma

Occasional
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Corpus callosum / septum pellucidum total / partial agenesis
- Cryptophthalmia / ankyloblepharon / synblepharon
- Dysplastic / thick / grooved fingernails
- High vaulted / narrow palate
- Hypothalamic-hypophyseal axis anomalies / hypothalamus / pituitary anomalies
- Microcephaly
- Myopia
- Nystagmus
- Postaxial polydactyly of toes / fifth supernumerary toe
- Proximally set thumb
- Retinal / chorioretinal dysplasia / dystrophy
- Sclerocornea
- Seizures / epilepsy / absences / spasms / status epilepticus
- Sensorineural deafness / hearing loss
- Syndactyly of fingers / interdigital palm
- Undescended / ectopic testes / cryptorchidia / unfixed testes


Generalized juvenile polyposis/juvenile polyposis coli

(no data available)