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Metachondromatosis

1 OMIM reference -
1 associated gene
10 signs/symptoms

PROTEIN INTERACTIONS: 1

Congenital amegakaryocytic thrombocytopenia

1 OMIM reference -
1 associated gene
12 signs/symptoms

Metachondromatosis

Congenital amegakaryocytic thrombocytopenia

(UniProt - OMIM)

(UniProt - OMIM)


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

Citations in the biomedical literature:

Metachondromatosis		Congenital amegakaryocytic thrombocytopenia

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

	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: no data available Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C535982

Metachondromatosis		Congenital amegakaryocytic thrombocytopenia
	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 - Hemoglobinosis / hemoglobinopathy - Thrombocytopenia / thrombopenia - X-linked recessive inheritance Frequent - Abnormal vertebral size / shape - Anaemia - Coarse face - Pigmented naevi / naevus pigmentosus / lentigo - Scoliosis - Short neck - Short stature / dwarfism / nanism Occasional - Cardiac septal defect - Poorly ossified skull / calvarium