KEGG   DISEASE: Meckel syndromeHelp
Entry
H00261                      Disease                                

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
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of the urinary system
   H00261  Meckel syndrome
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2F  Syndromes with multiple structural anomalies, without predominant body system involvement
    H00261  Meckel syndrome
BRITE hierarchy
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]
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
Reference
  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
Reference
  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:10.1043/1543-2165(2006)130[1236:MS]2.0.CO;2
Reference
PMID:9643292
  Authors
Salonen R, Paavola P
  Title
Meckel syndrome.
  Journal
J Med Genet 35:497-501 (1998)
DOI:10.1136/jmg.35.6.497
Reference
  Authors
Bergmann C
  Title
Educational paper: ciliopathies.
  Journal
Eur J Pediatr 171:1285-300 (2012)
DOI:10.1007/s00431-011-1553-z
Reference
  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
Reference
  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
Reference
  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
Reference
  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
Reference
  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
Reference
  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
Reference
  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

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