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1 OMIM reference -
3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 OMIM references -
2 associated genes
22 signs/symptoms
Generalized juvenile polyposis/juvenile polyposis coli
Torg-Winchester syndrome

BMPR1A MMP14
ENG MMP2
SMAD4


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ENG
(0.49)
MMP14



Citations in the biomedical literature:


Generalized juvenile polyposis/juvenile polyposis coli
BMPR1A ENG SMAD4
Torg-Winchester syndrome
MMP14 MMP2



Generalized juvenile polyposis/juvenile polyposis coli
Torg-Winchester syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- Winchester syndrome

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):
- Diseases of the musculoskeletal system and connective tissue -

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: childhood
Average age of death: -
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
No MeSH references
External references:
2 OMIM references -
1 MeSH reference: C536051

Torg-Winchester syndrome

Very frequent
- Arthritis / synovitis / synovial proliferation
- Autosomal recessive inheritance
- Claw hand / retracted fingers
- Epiphyseal anomaly
- Metaphyseal anomaly
- Osteolysis / osteoclasia / bone destruction / erosions
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Restricted joint mobility / joint stiffness / ankylosis
- Short stature / dwarfism / nanism
- Tarsal anomaly / fusion / synostosis
- Wrist / carpal anomalies

Frequent
- Coarse face
- Corneal clouding / opacity / vascularisation
- Frontal bossing / prominent forehead
- Hirsutism / hypertrichosis / Increased body hair
- Irregular / in bands / reticular skin hyperpigmentation
- Long / large / bulbous nose
- Thick lips
- Thick skin / pachydermia / orange skin
- Thickened / hypertrophic / fibromatous gingivae

Occasional
- Atrial septal defect / interauricular communication
- Subcutaneous nodules / lipomas / tumefaction / swelling


Generalized juvenile polyposis/juvenile polyposis coli

(no data available)