Details of Disease | DrugMAP

General Information of Disease (ID: DISIMDQA)

Disease Name	Multicentric carpo-tarsal osteolysis with or without nephropathy
Synonyms	multicentric osteolysis, autosomal dominant; multicentric carpotarsal osteolysis syndrome; MCTO; osteolysis, hereditary, of carpal bones with or without nephropathy; multicentric osteolysis nephropathy; Carnevale canun Mendoza syndrome; multicentric carpo-tarsal osteolysis with or without nephropathy; idiopathic multicentric osteolysis with or without nephropathy
Definition	Idiopathic multicentric osteolysis is a very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities.
Disease Hierarchy	DISOTEY1: Primary osteolysis DISIMDQA: Multicentric carpo-tarsal osteolysis with or without nephropathy
Disease Identifiers	MONDO ID MONDO_0008152 MESH ID C567171 UMLS CUI C2674705 OMIM ID 166300 MedGen ID 436237 Orphanet ID 2774 SNOMED CT ID 766992008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MAFB	OTH2N3T8	Definitive	Autosomal dominant	[1]
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References

1	Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB. Am J Hum Genet. 2012 Mar 9;90(3):494-501. doi: 10.1016/j.ajhg.2012.01.003. Epub 2012 Mar 1.