Metachondromatosis malady

NIH Rare Diseases: Metachondromatosis (MC) is a rare bone disorder characterized by the presence of both multiple enchondromas and osteochondroma-like lesions. The first signs occur during the first decade of life. Osteochondromas most commonly occur in the hands and feet (predominantly in digits and toes), and enchondromas involve the iliac crests and metaphyses of long bones. The lesions typically spontaneously decrease in size or regress. Nerve paralysis or vascular complications may occur in some cases. The condition has been linked to mutations in the PTPN11 gene in several families and is inherited in an autosomal dominant manner. Treatment may include surgery to remove osteochondromas in severe cases.³⁰

MalaCards: Metachondromatosis, is also known as metcds. An important gene associated with Metachondromatosis is PTPN11 (protein tyrosine phosphatase, non-receptor type 11).

Wikipedia: Metachondromatosis is an autosomal dominantskeletal disorder affecting the growth of bones, leading to...⁴⁴ more...

OMIM: 156250

metachondromatosis 30 16 33 43 metcds 30

Clinical features from OMIM: 156250

Approved drugs:

Drug clinical trials:

Genetic tests related to metachondromatosis:

id	Genetic test	Affiliating Genes
1	Metachondromatosis clinical/research	PTPN11

Genes related to metachondromatosis according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	PTPN11	protein tyrosine phosphatase, non-receptor type 11	11.0	Disorders