multicentric carpotarsal osteolysis syndrome

Term ID

DOID:0111534

Synonyms

• autosomal dominant multicentric osteolysis
• hereditary osteolysis of carpal bones with or without nephropathy
• idiopathic multicentric osteolysis with or without nephropathy
• MCTO
• multicentric carpo-tarsal osteolysis with or without nephropathy
• multicentric osteolysis nephropathy

Definition

A syndrome characterized by progressive loss of bone, typically involving the carpal and tarsal bones, and in many cases chronic renal failure that has_material_basis_in heterozygous mutation in the MAFB gene on chromosome 20q12. (2)

References

• GARD:3818
• MESH:C567171
• MIM:166300
• NCI:C178416
• ORDO:2774
• SNOMEDCT_US_2023_03_01:766992008
• UMLS_CUI:C2674705

Ontology

Human Disease   ( DOID:0111534 )