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Metachondromatosis

1 OMIM reference -
1 associated gene
10 signs/symptoms

PROTEIN INTERACTIONS: 1

Bilateral renal agenesis

1 OMIM reference -
3 associated genes
18 signs/symptoms

Metachondromatosis

Bilateral renal agenesis

PTPN11	(UniProt - OMIM)		ITGA8	(UniProt - OMIM)
			RET	(UniProt - OMIM)
			UPK3A	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PTPN11	(0.52)	RET

Citations in the biomedical literature:

Metachondromatosis		Bilateral renal agenesis

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

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

	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: neonatal/infancy Average age of death: before age 5 Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C536482

Metachondromatosis		Bilateral renal agenesis
	Very frequent - Autosomal dominant inheritance - Bone pain - Cranial nerves palsy - Enchondroses - Epiphyseal anomaly - Exostoses - Metaphyseal anomaly - Osteonecrosis / bone infarction - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Periarticular tissue anomaly / extraarticular calcifications		Very frequent - Agenesis / hypoplasia / aplasia of kidneys - Epicanthic folds - Hypertelorism - Hypoplastic lungs / pulmonary hypoplasia / agenesis - Low set ears / posteriorly rotated ears - Oligoamnios - Short columella / depressed nasal tip - Stillbirth / neonatal death Frequent - Congenital cardiac anomaly / malformation / cardiopathy - Imperforate anus / rectum atresia / agenesis / recto-vaginal / vesical / perineal fistula - Intestinal / colonic anomaly - Micrognathia / retrognathia / micrognathism / retrognathism - Sacro-coccyx / sacrum anomaly - Tracheo-esophageal fistula / esophageal atresia / stenosis Occasional - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Lateral cleft lip / gingival cleft / paramedian nasal cleft - Sirenomelia / mermaid / lower limb fusion - Uterine / uterus / Fallopian tubes anomalies