ODCs

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

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
18 signs/symptoms

Juvenile polyposis of infancy

Acromesomelic dysplasia, Hunter-Thomson type

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


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

Citations in the biomedical literature:

Juvenile polyposis of infancy		Acromesomelic dysplasia, Hunter-Thomson type
	Synonym(s): - Infantile juvenile polyposis syndrome		Synonym(s): - Acromesomelic dwarfism

	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: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal recessive

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

Acromesomelic dysplasia, Hunter-Thomson type
	Very frequent - Ankle anomalies - Autosomal recessive inheritance - Elbow dislocation - Irregular length / shape of fingers - Mesomelic micromelia - Short hand / brachydactyly - Short stature / dwarfism / nanism - Simian crease / transverse / unique palmar crease - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Tarsal anomaly / fusion / synostosis - Thumb hypoplasia / aplasia / absence Frequent - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Intellectual deficit / mental / psychomotor retardation / learning disability - Patella dislocation - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Restricted joint mobility / joint stiffness / ankylosis - Scoliosis - Wrist / carpal anomalies
Juvenile polyposis of infancy
(no data available)