| H01865 | |
| H番号 | H01865 |
| 名称 | 多中心性手根足根骨溶解症症候群 |
| 概要 | 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. |
| カテゴリ | 筋骨格疾患 |
| ネットワーク | - |
| 病因遺伝子 | MAFB [HSA:9935] [KO:K09036] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: FB86.2 ICD-10: M89.5 MeSH: C567171 OMIM: 166300 |
| 文献 | PMID:14114021 著者 SHURTLEFF DB, SPARKES RS, CLAWSON DK, GUNTHEROTH WG, MOTTET NK タイトル HEREDITARY OSTEOLYSIS WITH HYPERTENSION AND NEPHROPATHY. 雑誌 JAMA 188:363-8 (1964) DOI:10.1001/jama.1964.03060300025005 PMID:24989131 著者 Mumm S, Huskey M, Duan S, Wenkert D, Madson KL, Gottesman GS, Nenninger AR, Laxer RM, McAlister WH, Whyte MP タイトル Multicentric carpotarsal osteolysis syndrome is caused by only a few domain-specific mutations in MAFB, a negative regulator of RANKL-induced osteoclastogenesis. 雑誌 Am J Med Genet A 164A:2287-93 (2014) DOI:10.1002/ajmg.a.36641 PMID:22387013 著者 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 タイトル Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB. 雑誌 Am J Hum Genet 90:494-501 (2012) DOI:10.1016/j.ajhg.2012.01.003 PMID:23670161 著者 Dworschak GC, Draaken M, Hilger A, Born M, Reutter H, Ludwig M タイトル An incompletely penetrant novel MAFB (p.Ser56Phe) variant in autosomal dominant multicentric carpotarsal osteolysis syndrome. 雑誌 Int J Mol Med 32:174-8 (2013) DOI:10.3892/ijmm.2013.1373 |