| H00436 | |
| H番号 | H00436 |
| 名称 | 大理石骨病 |
| 概要 | The osteopetroses are a heterogeneous group of disorders characterized by increased bone density and the replacement of trabecular bone with compact bone due to reduced osteoclastic bone resorption. Some osteopetrotic conditions exhibit additional clinical features including renal tubular acidosis and secondary neurological impairment. In forms of osteopetrosis with normal osteoclast counts, most of the mutated genes encode proteins that regulate the intra- and extracellular pH of osteoclasts, such as TCIRG1 gene encoding for the a3 subunit of the V-ATPase and CLCN7 gene. In cases with decreased osteoclast counts, osteoclast differentiation is impaired by mutations in RANKL or RANK. These RANK-deficient patients could be rescued by hematopoietic stem cell transplantation. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | (OPTA1) LRP5 [HSA:4041] [KO:K03068] (OPTA2/B4) CLCN7 [HSA:1186] [KO:K05016] (OPTA3/B6) PLEKHM1 [HSA:9842] [KO:K23282] (OPTB1) TCIRG1 [HSA:10312] [KO:K02154] (OPTB2) TNFSF11 [HSA:8600] [KO:K05473] (OPTB3) CA2 [HSA:760] [KO:K18245] (OPTB5) OSTM1 [HSA:28962] [KO:K23863] (OPTB7) TNFRSF11A [HSA:8792] [KO:K05147] (OPTB8) SNX10 [HSA:29887] [KO:K17924] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | OBTB1, OPTB4, OBTP5, and OBTP8 are infantile malignant osteopetrosis. OPTB3 is osteopetrosis associated with renal tubular acidosis. |
| リンク | ICD-11: LD24.10 ICD-10: Q78.2 MeSH: D010022 OMIM: 607634 166600 618107 259700 259710 259730 611490 259720 611497 612301 615085 |
| 文献 | PMID:20855225 著者 Michou L, Brown JP タイトル Genetics of bone diseases: Paget's disease, fibrous dysplasia, osteopetrosis, and osteogenesis imperfecta. 雑誌 Joint Bone Spine 78:252-8 (2011) DOI:10.1016/j.jbspin.2010.07.010 PMID:16307387 著者 Balemans W, Van Wesenbeeck L, Van Hul W タイトル A clinical and molecular overview of the human osteopetroses. 雑誌 Calcif Tissue Int 77:263-74 (2005) DOI:10.1007/s00223-005-0027-6 PMID:17936098 著者 Del Fattore A, Cappariello A, Teti A タイトル Genetics, pathogenesis and complications of osteopetrosis. 雑誌 Bone 42:19-29 (2008) DOI:10.1016/j.bone.2007.08.029 PMID:12579474 (LRP5) 著者 Van Wesenbeeck L, Cleiren E, Gram J, Beals RK, Benichou O, Scopelliti D, Key L, Renton T, Bartels C, Gong Y, Warman ML, De Vernejoul MC, Bollerslev J, Van Hul W タイトル Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density. 雑誌 Am J Hum Genet 72:763-71 (2003) DOI:10.1086/368277 PMID:11741829 (CLCN7, OPTA2) 著者 Cleiren E, Benichou O, Van Hul E, Gram J, Bollerslev J, Singer FR, Beaverson K, Aledo A, Whyte MP, Yoneyama T, deVernejoul MC, Van Hul W タイトル Albers-Schonberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene. 雑誌 Hum Mol Genet 10:2861-7 (2001) DOI:10.1093/hmg/10.25.2861 PMID:17997709 (PLEKHM1, OPTA3) 著者 Del Fattore A, Fornari R, Van Wesenbeeck L, de Freitas F, Timmermans JP, Peruzzi B, Cappariello A, Rucci N, Spera G, Helfrich MH, Van Hul W, Migliaccio S, Teti A タイトル A new heterozygous mutation (R714C) of the osteopetrosis gene, pleckstrin homolog domain containing family M (with run domain) member 1 (PLEKHM1), impairs vesicular acidification and increases TRACP secretion in osteoclasts. 雑誌 J Bone Miner Res 23:380-91 (2008) DOI:10.1359/jbmr.071107 PMID:10888887 (TCIRG1) 著者 Frattini A, Orchard PJ, Sobacchi C, Giliani S, Abinun M, Mattsson JP, Keeling DJ, Andersson AK, Wallbrandt P, Zecca L, Notarangelo LD, Vezzoni P, Villa A タイトル Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis. 雑誌 Nat Genet 25:343-6 (2000) DOI:10.1038/77131 PMID:17632511 (TNFSF11) 著者 Sobacchi C, Frattini A, Guerrini MM, Abinun M, Pangrazio A, Susani L, Bredius R, Mancini G, Cant A, Bishop N, Grabowski P, Del Fattore A, Messina C, Errigo G, Coxon FP, Scott DI, Teti A, Rogers MJ, Vezzoni P, Villa A, Helfrich MH タイトル Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL. 雑誌 Nat Genet 39:960-2 (2007) DOI:10.1038/ng2076 PMID:1928091 (CA2) 著者 Venta PJ, Welty RJ, Johnson TM, Sly WS, Tashian RE タイトル Carbonic anhydrase II deficiency syndrome in a Belgian family is caused by a point mutation at an invariant histidine residue (107 His----Tyr): complete structure of the normal human CA II gene. 雑誌 Am J Hum Genet 49:1082-90 (1991) PMID:11207362 (CLCN7, OPTB4) 著者 Kornak U, Kasper D, Bosl MR, Kaiser E, Schweizer M, Schulz A, Friedrich W, Delling G, Jentsch TJ タイトル Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man. 雑誌 Cell 104:205-15 (2001) DOI:10.1016/s0092-8674(01)00206-9 PMID:12627228 (OSTM1) 著者 Chalhoub N, Benachenhou N, Rajapurohitam V, Pata M, Ferron M, Frattini A, Villa A, Vacher J タイトル Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human. 雑誌 Nat Med 9:399-406 (2003) DOI:10.1038/nm842 PMID:17404618 (PLEKHM1, OPTB6) 著者 Van Wesenbeeck L, Odgren PR, Coxon FP, Frattini A, Moens P, Perdu B, MacKay CA, Van Hul E, Timmermans JP, Vanhoenacker F, Jacobs R, Peruzzi B, Teti A, Helfrich MH, Rogers MJ, Villa A, Van Hul W タイトル Involvement of PLEKHM1 in osteoclastic vesicular transport and osteopetrosis in incisors absent rats and humans. 雑誌 J Clin Invest 117:919-30 (2007) DOI:10.1172/JCI30328 PMID:18606301 (TNFRSF11A) 著者 Guerrini MM, Sobacchi C, Cassani B, Abinun M, Kilic SS, Pangrazio A, Moratto D, Mazzolari E, Clayton-Smith J, Orchard P, Coxon FP, Helfrich MH, Crockett JC, Mellis D, Vellodi A, Tezcan I, Notarangelo LD, Rogers MJ, Vezzoni P, Villa A, Frattini A タイトル Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations. 雑誌 Am J Hum Genet 83:64-76 (2008) DOI:10.1016/j.ajhg.2008.06.015 PMID:22499339 (SNX10) 著者 Aker M, Rouvinski A, Hashavia S, Ta-Shma A, Shaag A, Zenvirt S, Israel S, Weintraub M, Taraboulos A, Bar-Shavit Z, Elpeleg O タイトル An SNX10 mutation causes malignant osteopetrosis of infancy. 雑誌 J Med Genet 49:221-6 (2012) DOI:10.1136/jmedgenet-2011-100520 |