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Proximal symphalangism

2 OMIM references -
2 associated genes
15 signs/symptoms

PROTEIN INTERACTIONS: 1

Juvenile polyposis of infancy

1 OMIM reference -
2 associated genes
No signs/symptoms info

Proximal symphalangism

Juvenile polyposis of infancy

GDF5	(UniProt - OMIM)		BMPR1A	(UniProt - OMIM)
NOG	(UniProt - OMIM)		PTEN	(UniProt - OMIM)


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

Citations in the biomedical literature:

Proximal symphalangism		Juvenile polyposis of infancy
	Synonym(s): - Symphalangism, Cushing type		Synonym(s): - Infantile juvenile polyposis syndrome

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare gastroenterologic disease - Rare genetic disease - Rare oncologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Neoplasms -

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant		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

	External references: 2 OMIM references - 1 MeSH reference: C536223		External references: 1 OMIM reference - No MeSH references

Proximal symphalangism
	Very frequent - Autosomal dominant inheritance - Camptodactyly of some fingers - Carpal bones fusion / synostosis - Symphalangy of fingers - Tarsal anomaly / fusion / synostosis Frequent - Clinodactyly of fingers 1,2,3,4 / overlapping fingers - Elbow dislocation - Humeroradial fusion - Metacarpal anomalies / Archibald's sign - Sensorineural deafness / hearing loss - Short hand / brachydactyly Occasional - Clinodactyly of fifth finger - Strabismus / squint - Syndactyly of fingers / interdigital palm - Wrist / carpal anomalies
Juvenile polyposis of infancy
(no data available)