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Autosomal dominant macrothrombocytopenia

3 OMIM references -
4 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Metachondromatosis

1 OMIM reference -
1 associated gene
10 signs/symptoms

Autosomal dominant macrothrombocytopenia

Metachondromatosis

ACTN1	(UniProt - OMIM)		PTPN11	(UniProt - OMIM)
ITGA2B	(UniProt - OMIM)
ITGB3	(UniProt - OMIM)
TUBB1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ITGB3	(0.63)	PTPN11

Citations in the biomedical literature:

Autosomal dominant macrothrombocytopenia		Metachondromatosis

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

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

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

	External references: 3 OMIM references - No MeSH references		External references: 1 OMIM reference - No MeSH references

Metachondromatosis
	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
Autosomal dominant macrothrombocytopenia
(no data available)