| H00261 | |
| H番号 | H00261 |
| 名称 | メッケル症候群; メッケル・グルーバー症候群 |
| 概要 | Meckel syndrome (MKS) is a lethal, autosomal recessive disorder characterized by anomalies of the central nervous system, cystic dysplasia of the kidneys, and malformations of the hands and feet. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | (MKS1) MKS1 [HSA:54903] [KO:K19332] (MKS2) TMEM216 [HSA:51259] [KO:K19385] (MKS3) TMEM67 [HSA:91147] [KO:K19348] (MKS4) CEP290 [HSA:80184] [KO:K16533] (MKS5) RPGRIP1L [HSA:23322] [KO:K16550] (MKS6) CC2D2A [HSA:57545] [KO:K19352] (MKS7) NPHP3 [HSA:27031] [KO:K19360] (MKS8) TCTN2 [HSA:79867] [KO:K19361] (MKS9) B9D1 [HSA:27077] [KO:K16744] (MKS10) B9D2 [HSA:80776] [KO:K16745] (MKS11) TMEM231 [HSA:79583] [KO:K19362] (MKS12) KIF14 [HSA:9928] [KO:K17915] (MKS13) TMEM107 [HSA:84314] [KO:K22764] (MKS14) TXNDC15 [HSA:79770] [KO:K25389] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD2F.13 ICD-10: Q61.9 MeSH: C536133 C536131 C536132 OMIM: 249000 603194 607361 611134 611561 612284 267010 613885 614209 614175 615397 616258 617562 619879 |
| 文献 | PMID:17389183 著者 Chen CP タイトル Meckel syndrome: genetics, perinatal findings, and differential diagnosis. 雑誌 Taiwan J Obstet Gynecol 46:9-14 (2007) DOI:10.1016/S1028-4559(08)60100-X PMID:16879033 著者 Alexiev BA, Lin X, Sun CC, Brenner DS タイトル Meckel-Gruber syndrome: pathologic manifestations, minimal diagnostic criteria, and differential diagnosis. 雑誌 Arch Pathol Lab Med 130:1236-8 (2006) DOI:10.5858/2006-130-1236-MS PMID:16415886 (MKS1) 著者 Kyttala M, Tallila J, Salonen R, Kopra O, Kohlschmidt N, Paavola-Sakki P, Peltonen L, Kestila M タイトル MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome. 雑誌 Nat Genet 38:155-7 (2006) DOI:10.1038/ng1714 PMID:20512146 (TMEM216) 著者 Valente EM, Logan CV, Mougou-Zerelli S, Lee JH, Silhavy JL, Brancati F, Iannicelli M, Travaglini L, Romani S, Illi B, Adams M, Szymanska K, Mazzotta A, Lee JE, Tolentino JC, Swistun D, Salpietro CD, Fede C, Gabriel S, Russ C, Cibulskis K, Sougnez C, Hildebrandt F, Otto EA, Held S, Diplas BH, Davis EE, Mikula M, Strom CM, Ben-Zeev B, Lev D, Sagie TL, Michelson M, Yaron Y, Krause A, Boltshauser E, Elkhartoufi N, Roume J, Shalev S, Munnich A, Saunier S, Inglehearn C, Saad A, Alkindy A, Thomas S, Vekemans M, Dallapiccola B, Katsanis N, Johnson CA, Attie-Bitach T, Gleeson JG タイトル Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. 雑誌 Nat Genet 42:619-25 (2010) DOI:10.1038/ng.594 PMID:26191240 (TMEM67) 著者 Zhang M, Cheng J, Liu A, Wang L, Xiong L, Chen M, Sun Y, Li J, Lu Y, Yuan H, Li Y, Lu Y タイトル A missense mutation in TMEM67 causes Meckel-Gruber syndrome type 3 (MKS3): a family from China. 雑誌 Int J Clin Exp Pathol 8:5379-86 (2015) PMID:17705300 (CEP290) 著者 Frank V, den Hollander AI, Bruchle NO, Zonneveld MN, Nurnberg G, Becker C, Du Bois G, Kendziorra H, Roosing S, Senderek J, Nurnberg P, Cremers FP, Zerres K, Bergmann C タイトル Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome. 雑誌 Hum Mutat 29:45-52 (2008) DOI:10.1002/humu.20614 PMID:17558409 (RPGRIP1L) 著者 Delous M, Baala L, Salomon R, Laclef C, Vierkotten J, Tory K, Golzio C, Lacoste T, Besse L, Ozilou C, Moutkine I, Hellman NE, Anselme I, Silbermann F, Vesque C, Gerhardt C, Rattenberry E, Wolf MT, Gubler MC, Martinovic J, Encha-Razavi F, Boddaert N, Gonzales M, Macher MA, Nivet H, Champion G, Bertheleme JP, Niaudet P, McDonald F, Hildebrandt F, Johnson CA, Vekemans M, Antignac C, Ruther U, Schneider-Maunoury S, Attie-Bitach T, Saunier S タイトル The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. 雑誌 Nat Genet 39:875-81 (2007) DOI:10.1038/ng2039 PMID:18513680 (CC2D2A) 著者 Tallila J, Jakkula E, Peltonen L, Salonen R, Kestila M タイトル Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle. 雑誌 Am J Hum Genet 82:1361-7 (2008) DOI:10.1016/j.ajhg.2008.05.004 PMID:18371931 (NPHP3) 著者 Bergmann C, Fliegauf M, Bruchle NO, Frank V, Olbrich H, Kirschner J, Schermer B, Schmedding I, Kispert A, Kranzlin B, Nurnberg G, Becker C, Grimm T, Girschick G, Lynch SA, Kelehan P, Senderek J, Neuhaus TJ, Stallmach T, Zentgraf H, Nurnberg P, Gretz N, Lo C, Lienkamp S, Schafer T, Walz G, Benzing T, Zerres K, Omran H タイトル Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia. 雑誌 Am J Hum Genet 82:959-70 (2008) DOI:10.1016/j.ajhg.2008.02.017 PMID:21462283 (TCTN2) 著者 Shaheen R, Faqeih E, Seidahmed MZ, Sunker A, Alali FE, AlQahtani K, Alkuraya FS タイトル A TCTN2 mutation defines a novel Meckel Gruber syndrome locus. 雑誌 Hum Mutat 32:573-8 (2011) DOI:10.1002/humu.21507 PMID:21763481 (B9D1 B9D2) 著者 Dowdle WE, Robinson JF, Kneist A, Sirerol-Piquer MS, Frints SG, Corbit KC, Zaghloul NA, van Lijnschoten G, Mulders L, Verver DE, Zerres K, Reed RR, Attie-Bitach T, Johnson CA, Garcia-Verdugo JM, Katsanis N, Bergmann C, Reiter JF タイトル Disruption of a ciliary B9 protein complex causes Meckel syndrome. 雑誌 Am J Hum Genet 89:94-110 (2011) DOI:10.1016/j.ajhg.2011.06.003 PMID:23349226 (TMEM231) 著者 Shaheen R, Ansari S, Mardawi EA, Alshammari MJ, Alkuraya FS タイトル Mutations in TMEM231 cause Meckel-Gruber syndrome. 雑誌 J Med Genet 50:160-2 (2013) DOI:10.1136/jmedgenet-2012-101431 PMID:24128419 (KIF14) 著者 Filges I, Nosova E, Bruder E, Tercanli S, Townsend K, Gibson WT, Rothlisberger B, Heinimann K, Hall JG, Gregory-Evans CY, Wasserman WW, Miny P, Friedman JM タイトル Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype. 雑誌 Clin Genet 86:220-8 (2014) DOI:10.1111/cge.12301 PMID:26595381 (TMEM107) 著者 Lambacher NJ, Bruel AL, van Dam TJ, Szymanska K, Slaats GG, Kuhns S, McManus GJ, Kennedy JE, Gaff K, Wu KM, van der Lee R, Burglen L, Doummar D, Riviere JB, Faivre L, Attie-Bitach T, Saunier S, Curd A, Peckham M, Giles RH, Johnson CA, Huynen MA, Thauvin-Robinet C, Blacque OE タイトル TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome. 雑誌 Nat Cell Biol 18:122-31 (2016) DOI:10.1038/ncb3273 PMID:30851085 (TXNDC15) 著者 Ridnoi K, Sois M, Vaidla E, Pajusalu S, Kelder L, Reimand T, Ounap K タイトル A prenatally diagnosed case of Meckel-Gruber syndrome with novel compound heterozygous pathogenic variants in the TXNDC15 gene. 雑誌 Mol Genet Genomic Med 7:e614 (2019) DOI:10.1002/mgg3.614 |