KEGG   DISEASE: Meier-Gorlin syndrome
H01889                      Disease                                
Meier-Gorlin syndrome;
Ear-patella-short statute syndrome
Meier-Gorlin syndrome (MGS) is a genetically heterogeneous primordial dwarfism syndrome characterized by microtia, patellar aplasia/hypoplasia, and a proportionate short stature. Additional clinical findings include pulmonary emphysema, feeding difficulties, urogenital abnormalities, and mammary hypoplasia. Characteristic facial features, which gradually change with age, are frequently described. Infants typically have a small mouth with full lips and micrognathia, whereas in adults, a high forehead and a more prominent, narrow nose with a broad nasal bridge are distinguishable. The diagnosis of MGS should be considered in patients with at least two of the three features of the clinical triad of microtia, patellar anomalies, and pre- and postnatal growth retardation. Mutations in genes involved in DNA-replication have been detected in patients with MGS.
Congenital malformation
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD24  Syndromes with skeletal anomalies as a major feature
    H01889  Meier-Gorlin syndrome
Pathway-based classification of diseases [BR:br08402]
 Replication and repair
  nt06509  DNA replication
   H01889  Meier-Gorlin syndrome
  nt06506  Double-strand break repair
   H01889  Meier-Gorlin syndrome
hsa04110  Cell cycle
nt06506 Double-strand break repair
nt06509 DNA replication
(MGORS1) ORC1 [HSA:4998] [KO:K02603]
(MGORS2) ORC4 [HSA:5000] [KO:K02606]
(MGORS3) ORC6 [HSA:23594] [KO:K02608]
(MGORS4) CDT1 [HSA:81620] [KO:K10727]
(MGORS5) CDC6 [HSA:990] [KO:K02213]
(MGORS6) GMNN [HSA:51053] [KO:K10749]
(MGORS7) CDC45 [HSA:8318] [KO:K06628]
(MGORS8) MCM5 [HSA:4174] [KO:K02209]
Other DBs
ICD-11: LD24.JY
ICD-10: Q87.1
MeSH: C538012
OMIM: 224690 613800 613803 613804 613805 616835 617063 617564
de Munnik SA, Hoefsloot EH, Roukema J, Schoots J, Knoers NV, Brunner HG, Jackson AP, Bongers EM
Meier-Gorlin syndrome.
Orphanet J Rare Dis 10:114 (2015)
PMID:21358633 (ORC1)
Bicknell LS, Walker S, Klingseisen A, Stiff T, Leitch A, Kerzendorfer C, Martin CA, Yeyati P, Al Sanna N, Bober M, Johnson D, Wise C, Jackson AP, O'Driscoll M, Jeggo PA
Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome.
Nat Genet 43:350-5 (2011)
PMID:21358631 (ORC4)
Guernsey DL, Matsuoka M, Jiang H, Evans S, Macgillivray C, Nightingale M, Perry S, Ferguson M, LeBlanc M, Paquette J, Patry L, Rideout AL, Thomas A, Orr A, McMaster CR, Michaud JL, Deal C, Langlois S, Superneau DW, Parkash S, Ludman M, Skidmore DL, Samuels ME
Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome.
Nat Genet 43:360-4 (2011)
PMID:21358632 (ORC1, ORC4, ORC6, CDT1, CDC6)
Bicknell LS, Bongers EM, Leitch A, Brown S, Schoots J, Harley ME, Aftimos S, Al-Aama JY, Bober M, Brown PA, van Bokhoven H, Dean J, Edrees AY, Feingold M, Fryer A, Hoefsloot LH, Kau N, Knoers NV, Mackenzie J, Opitz JM, Sarda P, Ross A, Temple IK, Toutain A, Wise CA, Wright M, Jackson AP
Mutations in the pre-replication complex cause Meier-Gorlin syndrome.
Nat Genet 43:356-9 (2011)
PMID:26637980 (GMNN)
Burrage LC, Charng WL, Eldomery MK, Willer JR, Davis EE, Lugtenberg D, Zhu W, Leduc MS, Akdemir ZC, Azamian M, Zapata G, Hernandez PP, Schoots J, de Munnik SA, Roepman R, Pearring JN, Jhangiani S, Katsanis N, Vissers LE, Brunner HG, Beaudet AL, Rosenfeld JA, Muzny DM, Gibbs RA, Eng CM, Xia F, Lalani SR, Lupski JR, Bongers EM, Yang Y
De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.
Am J Hum Genet 97:904-13 (2015)
PMID:27374770 (CDC45)
Fenwick AL, Kliszczak M, Cooper F, Murray J, Sanchez-Pulido L, Twigg SR, Goriely A, McGowan SJ, Miller KA, Taylor IB, Logan C, Bozdogan S, Danda S, Dixon J, Elsayed SM, Elsobky E, Gardham A, Hoffer MJ, Koopmans M, McDonald-McGinn DM, Santen GW, Savarirayan R, de Silva D, Vanakker O, Wall SA, Wilson LC, Yuregir OO, Zackai EH, Ponting CP, Jackson AP, Wilkie AO, Niedzwiedz W, Bicknell LS
Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis.
Am J Hum Genet 99:125-38 (2016)
PMID:28198391 (MCM5)
Vetro A, Savasta S, Russo Raucci A, Cerqua C, Sartori G, Limongelli I, Forlino A, Maruelli S, Perucca P, Vergani D, Mazzini G, Mattevi A, Stivala LA, Salviati L, Zuffardi O
MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndrome.
Eur J Hum Genet 25:646-650 (2017)

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