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Metachondromatosis

1 OMIM reference -
1 associated gene
10 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

1 OMIM reference -
1 associated gene
37 signs/symptoms

Metachondromatosis

TRAPS syndrome

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PTPN11	(0.69)	TNFRSF1A

Citations in the biomedical literature:

Metachondromatosis		TRAPS syndrome
	Synonym(s): (no synonyms)		Synonym(s): - Autosomal dominant periodic fever - Familial hibernian fever - TNF receptor 1 associated periodic syndrome - Tumor necrosis factor receptor 1 associated periodic syndrome

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare genetic disease - Rare immune disease - Rare skin disease - Rare systemic or rheumatologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: normal Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: unknown Average age onset: childhood Average age of death: - Type of inheritance: autosomal dominant

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


COMMON SIGNS	- Cranial nerves palsy

Metachondromatosis		TRAPS syndrome
	Very frequent - Autosomal dominant inheritance - Bone pain - Enchondroses - Epiphyseal anomaly - Exostoses - Metaphyseal anomaly - Osteonecrosis / bone infarction - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Periarticular tissue anomaly / extraarticular calcifications		Very frequent - Acute abdominal pain / colic - Biological inflammatory syndrome / increased erythrocyte sedimentation rate / CRP - Cutaneous rash - Erysipela - Fever / chilling - Macules - Malabsorption / chronic diarrhea / steatorrhea - Myalgia / muscular pain - Pericardium anomalies / pericarditis / absence / cysts / pericardial effusion Frequent - Abnormal pleura / hydrothorax / pleuresia / pleural effusion / chylothorax - Arthritis / synovitis / synovial proliferation - Constipation - Erythema / erythematous lesions / erythroderma / polymorphous erythema - Hyperleukocytosis / leukocytosis - Intestinal obstruction / ileus - Lymphadenopathy / polyadenopathies - Nausea / vomiting / regurgitation / merycism / hyperemesis - Splenomegaly - Testes inflammation / orchitis Occasional - Articular / joint pain / arthralgia - Cellulitis / panniculitis / pseudocellulitis / inflammation of subcutaneous tissue - Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis - Dizziness - Ecchymoses - Facial pain / cephalalgia / migraine - Fasciitis - Follicular / erythematous / edematous papules / milium - Myocardium anomalies / myocarditis - Myositis - Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness - Peritonitis / peritoneal abscess - Pharyngitis - Psychic / behavioural troubles - Sacroiliac joints anomalies - Thoracic / chest pain - Vascularitis / vasculitides / arteritis