| H00261 | |
| H number | H00261 |
| Name | Meckel syndrome; Meckel-Gruber syndrome |
| Description | 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. |
| Category | Congenital malformation |
| Network | - |
| Gene | (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] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | 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 |
| Reference | PMID:17389183 AUTHORS Chen CP TITLE Meckel syndrome: genetics, perinatal findings, and differential diagnosis. JOURNAL Taiwan J Obstet Gynecol 46:9-14 (2007) DOI:10.1016/S1028-4559(08)60100-X PMID:16879033 AUTHORS Alexiev BA, Lin X, Sun CC, Brenner DS TITLE Meckel-Gruber syndrome: pathologic manifestations, minimal diagnostic criteria, and differential diagnosis. JOURNAL Arch Pathol Lab Med 130:1236-8 (2006) DOI:10.5858/2006-130-1236-MS PMID:16415886 (MKS1) AUTHORS Kyttala M, Tallila J, Salonen R, Kopra O, Kohlschmidt N, Paavola-Sakki P, Peltonen L, Kestila M TITLE MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome. JOURNAL Nat Genet 38:155-7 (2006) DOI:10.1038/ng1714 PMID:20512146 (TMEM216) AUTHORS 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 TITLE Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. JOURNAL Nat Genet 42:619-25 (2010) DOI:10.1038/ng.594 PMID:26191240 (TMEM67) AUTHORS Zhang M, Cheng J, Liu A, Wang L, Xiong L, Chen M, Sun Y, Li J, Lu Y, Yuan H, Li Y, Lu Y TITLE A missense mutation in TMEM67 causes Meckel-Gruber syndrome type 3 (MKS3): a family from China. JOURNAL Int J Clin Exp Pathol 8:5379-86 (2015) PMID:17705300 (CEP290) AUTHORS 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 TITLE Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome. JOURNAL Hum Mutat 29:45-52 (2008) DOI:10.1002/humu.20614 PMID:17558409 (RPGRIP1L) AUTHORS 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 TITLE The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. JOURNAL Nat Genet 39:875-81 (2007) DOI:10.1038/ng2039 PMID:18513680 (CC2D2A) AUTHORS Tallila J, Jakkula E, Peltonen L, Salonen R, Kestila M TITLE Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle. JOURNAL Am J Hum Genet 82:1361-7 (2008) DOI:10.1016/j.ajhg.2008.05.004 PMID:18371931 (NPHP3) AUTHORS 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 TITLE Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia. JOURNAL Am J Hum Genet 82:959-70 (2008) DOI:10.1016/j.ajhg.2008.02.017 PMID:21462283 (TCTN2) AUTHORS Shaheen R, Faqeih E, Seidahmed MZ, Sunker A, Alali FE, AlQahtani K, Alkuraya FS TITLE A TCTN2 mutation defines a novel Meckel Gruber syndrome locus. JOURNAL Hum Mutat 32:573-8 (2011) DOI:10.1002/humu.21507 PMID:21763481 (B9D1 B9D2) AUTHORS 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 TITLE Disruption of a ciliary B9 protein complex causes Meckel syndrome. JOURNAL Am J Hum Genet 89:94-110 (2011) DOI:10.1016/j.ajhg.2011.06.003 PMID:23349226 (TMEM231) AUTHORS Shaheen R, Ansari S, Mardawi EA, Alshammari MJ, Alkuraya FS TITLE Mutations in TMEM231 cause Meckel-Gruber syndrome. JOURNAL J Med Genet 50:160-2 (2013) DOI:10.1136/jmedgenet-2012-101431 PMID:24128419 (KIF14) AUTHORS 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 TITLE Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype. JOURNAL Clin Genet 86:220-8 (2014) DOI:10.1111/cge.12301 PMID:26595381 (TMEM107) AUTHORS 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 TITLE TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome. JOURNAL Nat Cell Biol 18:122-31 (2016) DOI:10.1038/ncb3273 PMID:30851085 (TXNDC15) AUTHORS Ridnoi K, Sois M, Vaidla E, Pajusalu S, Kelder L, Reimand T, Ounap K TITLE A prenatally diagnosed case of Meckel-Gruber syndrome with novel compound heterozygous pathogenic variants in the TXNDC15 gene. JOURNAL Mol Genet Genomic Med 7:e614 (2019) DOI:10.1002/mgg3.614 |