| H01865 | |
| H number | H01865 |
| Name | Multicentric carpotarsal osteolysis syndrome |
| Description | Multicentric carpotarsal osteolysis syndrome (MCTO) is a rare skeletal dysplasia characterized by progressive bone resorption (osteolysis), predominantly (although not exclusively) of the carpal and tarsal bones. The early clinical appearance can mimic polyarticular juvenile idiopathic arthritis; however, subsequent clinical and radiographic appearances are characteristic. Clinical manifestations comprise aggressive osteolysis of the carpal and tarsal bones, an often progressive nephropathy leading to end-stage renal disease, craniofacial anomalies and mental impairment. Both simplex cases and families with autosomal-dominant inheritance have been reported. Recently, heterozygous missense mutations in the MAFB gene have been causally related to MCTO patients. |
| Category | Musculoskeletal disease |
| Network | - |
| Gene | MAFB [HSA:9935] [KO:K09036] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: FB86.2 ICD-10: M89.5 MeSH: C567171 OMIM: 166300 |
| Reference | PMID:14114021 AUTHORS SHURTLEFF DB, SPARKES RS, CLAWSON DK, GUNTHEROTH WG, MOTTET NK TITLE HEREDITARY OSTEOLYSIS WITH HYPERTENSION AND NEPHROPATHY. JOURNAL JAMA 188:363-8 (1964) DOI:10.1001/jama.1964.03060300025005 PMID:24989131 AUTHORS Mumm S, Huskey M, Duan S, Wenkert D, Madson KL, Gottesman GS, Nenninger AR, Laxer RM, McAlister WH, Whyte MP TITLE Multicentric carpotarsal osteolysis syndrome is caused by only a few domain-specific mutations in MAFB, a negative regulator of RANKL-induced osteoclastogenesis. JOURNAL Am J Med Genet A 164A:2287-93 (2014) DOI:10.1002/ajmg.a.36641 PMID:22387013 AUTHORS Zankl A, Duncan EL, Leo PJ, Clark GR, Glazov EA, Addor MC, Herlin T, Kim CA, Leheup BP, McGill J, McTaggart S, Mittas S, Mitchell AL, Mortier GR, Robertson SP, Schroeder M, Terhal P, Brown MA TITLE Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB. JOURNAL Am J Hum Genet 90:494-501 (2012) DOI:10.1016/j.ajhg.2012.01.003 PMID:23670161 AUTHORS Dworschak GC, Draaken M, Hilger A, Born M, Reutter H, Ludwig M TITLE An incompletely penetrant novel MAFB (p.Ser56Phe) variant in autosomal dominant multicentric carpotarsal osteolysis syndrome. JOURNAL Int J Mol Med 32:174-8 (2013) DOI:10.3892/ijmm.2013.1373 |