Meckel syndrome

Meckel syndrome (MKS) is a rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation (mainly occipital encephalocele), large polycystic kidneys, and polydactyly, as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia.



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Narrow down the case reports



Total: 107 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(59.0%)		 10649795
 Dandy-Walker anomaly in Meckel-Gruber syndrome.
Cincinnati P, Neri ME, Valentini A.
Clin Dysmorphol. 2000;9(1):35-8.
Micrognathia Frontal bossing
Dandy-Walker Syndrome Females Homo sapiens Pregnancy Syndrome
2
(57.8%)		 10533329
 Prenatal diagnosis of Meckel syndrome: a case report.
Tongsong T, Piyamongkol W, Pongsatha S.
J Obstet Gynaecol Res. 1999;25(5):339-42.
Micrognathia
Adult Females Gestational Age Homo sapiens Polycystic Kidney Diseases Polydactyly Pregnancy Syndrome Ultrasonography, Prenatal
3
(53.3%)		 26294165
 [Polydactyly, holoprosencephaly, cleft lip and cleft palate are not always what they seem: Case report].
Alvarado Socarras JL, Laverde Amaya DC, Prada C, Garcia Carrillo J.
Arch Argent Pediatr. 2015;113(5):e290-3.
Polydactyly Cleft lip
Chromosomes, Human, Pair 13 Cleft Palate Congenital Hand Deformities Fetal Macrosomia Holoprosencephaly Homo sapiens Infant, Newborn Male Polydactyly Trisomy
3
(53.3%)		 24643152
 Antenatal diagnosis of left atrial isomerism and heterotaxy syndrome in fetus with Meckel-Gruber syndrome.
Kurtulmus S, Demirpence S, Can Oztekin D, Koc A, Tavl V.
Turk Kardiyol Dern Ars. 2014;42(2):182-5.
Polydactyly Cleft lip
Adult Ciliary Motility Disorders Congenital Heart Defects Females Heart Atrium Heterotaxy Syndrome Homo sapiens Polycystic Kidney Diseases Pregnancy Retinitis Pigmentosa Ultrasonography, Prenatal
5
(48.8%)		 31261150
 Meckel-Gruber Syndrome: A Case Who Lived for 5 Months.
Aydin Ozturk P, Asena M, Katar S, Ozturk U.
Pediatr Neurosurg. 2019;54(4):277-280.
Encephalocele Polydactyly
Ciliary Motility Disorders Fatal Outcome Females Homo sapiens Infant Infant, Newborn Male Polycystic Kidney Diseases Polydactyly Pregnancy Rare Diseases Retinitis Pigmentosa Ultrasonography, Prenatal
5
(48.8%)		 30851085
 A prenatally diagnosed case of Meckel-Gruber syndrome with novel compound heterozygous pathogenic variants in the TXNDC15 gene.
Ridnoi K, ois M, Vaidla E, Pajusalu S, Kelder L, Reimand T, Ounap K.
Mol Genet Genomic Med. 2019;7(5):e614.
Encephalocele Postaxial polydactyly
Adult Ciliary Motility Disorders Females Heterozygote Homo sapiens Membrane Proteins Missense Mutation Polycystic Kidney Diseases Pregnancy Retinitis Pigmentosa Thioredoxins Ultrasonography, Prenatal
5
(48.8%)		 29250684
 A rare case of Meckel-Gruber syndrome.
Chiriac DV, Hogea LM, Bredicean AC, Rednic R, Nussbaum LA, Hogea GB, Grigoras ML.
Rom J Morphol Embryol. 2017;58(3):1023-1027.
Meningoencephalocele Postaxial polydactyly
MKS1
Ciliary Motility Disorders Females Homo sapiens Polycystic Kidney Diseases Pregnancy Retinitis Pigmentosa
5
(48.8%)		 28812468
 The First Reported Case of Meckel-Gruber Syndrome Associated With Abnormal Karyotype Mosaic Trisomy 17.
Cierna Z, Janega P, Grochal F, Ferianec V, Braxatorisova T, Strieskova L, Malova J, Jungova P, Szemes T.
Pediatr Dev Pathol. 2017;20(5):449-454.
Encephalocele Polydactyly
CC2D2A
Abnormal Karyotype Abortion, Eugenic Chromosomes, Human, Pair 17 Ciliary Motility Disorders Cytoskeletal Proteins Gene Deletion Genetic Markers Homo sapiens Homozygote Male Mosaicism Polycystic Kidney Diseases Proteins Retinitis Pigmentosa Trisomy
5
(48.8%)		 26191240
 A missense mutation in TMEM67 causes Meckel-Gruber syndrome type 3 (MKS3): a family from China.
Zhang M, Cheng J, Liu A, Wang L, Xiong L, Chen M, Sun Y, Li J, Lu Y, Yuan H, Li Y, Lu Y.
Int J Clin Exp Pathol. 2015;8(5):5379-86.
Encephalocele Polydactyly
c|SUB|C|1645|T;RS#:747025617 p|SUB|R|549|C;RS#:747025617 rs747025617
China Ciliary Motility Disorders DNA Mutational Analysis Family Homo sapiens Membrane Proteins Missense Mutation Polycystic Kidney Diseases
5
(48.8%)		 26037304
 Meckel Gruber syndrome, A case report.
Aslan K, Kulahc Aslan E, Orhan A, Atalay MA.
Organogenesis. 2015;11(2):87-92.
Encephalocele Polydactyly
Ciliary Motility Disorders Differential Diagnosis Fatal Outcome Females Genetic Predisposition to Disease Homo sapiens Polycystic Kidney Diseases Pregnancy Retinitis Pigmentosa Ultrasonography, Prenatal
        

Phenotype(s) retrieved from Orphanet

    Total: 45

HPO ID Term Frequency
HP:0000003 Multicystic kidney dysplasia Very frequent (99-80%)
HP:0000252 Microcephaly Very frequent (99-80%)
HP:0001162 Postaxial hand polydactyly Very frequent (99-80%)
HP:0001830 Postaxial foot polydactyly Very frequent (99-80%)
HP:0002084 Encephalocele Very frequent (99-80%)
HP:0002612 Congenital hepatic fibrosis Very frequent (99-80%)
HP:0000028 Cryptorchidism Frequent (79-30%)
HP:0000062 Ambiguous genitalia Frequent (79-30%)
HP:0000175 Cleft palate Frequent (79-30%)
HP:0000293 Full cheeks Frequent (79-30%)
HP:0000316 Hypertelorism Frequent (79-30%)
HP:0000340 Sloping forehead Frequent (79-30%)
HP:0000347 Micrognathia Frequent (79-30%)
HP:0000368 Low-set, posteriorly rotated ears Frequent (79-30%)
HP:0000457 Depressed nasal ridge Frequent (79-30%)
HP:0000482 Microcornea Frequent (79-30%)
HP:0000518 Cataract Frequent (79-30%)
HP:0000532 Abnormal chorioretinal morphology Frequent (79-30%)
HP:0000568 Microphthalmia Frequent (79-30%)
HP:0000647 Sclerocornea Frequent (79-30%)
HP:0000648 Optic atrophy Frequent (79-30%)
HP:0001562 Oligohydramnios Frequent (79-30%)
HP:0001883 Talipes Frequent (79-30%)
HP:0006870 Lobar holoprosencephaly Frequent (79-30%)
HP:0008053 Aplasia/Hypoplasia of the iris Frequent (79-30%)
HP:0000037 Male pseudohermaphroditism Occasional (29-5%)
HP:0000068 Urethral atresia Occasional (29-5%)
HP:0000073 Ureteral duplication Occasional (29-5%)
HP:0000221 Furrowed tongue Occasional (29-5%)
HP:0000238 Hydrocephalus Occasional (29-5%)
HP:0000528 Anophthalmia Occasional (29-5%)
HP:0001177 Preaxial hand polydactyly Occasional (29-5%)
HP:0001305 Dandy-Walker malformation Occasional (29-5%)
HP:0001696 Situs inversus totalis Occasional (29-5%)
HP:0001737 Pancreatic cysts Occasional (29-5%)
HP:0001746 Asplenia Occasional (29-5%)
HP:0001747 Accessory spleen Occasional (29-5%)
HP:0002323 Anencephaly Occasional (29-5%)
HP:0002564 obsolete Malformation of the heart and great vessels Occasional (29-5%)
HP:0006487 Bowing of the long bones Occasional (29-5%)
HP:0006706 Cystic liver disease Occasional (29-5%)
HP:0007370 Aplasia/Hypoplasia of the corpus callosum Occasional (29-5%)
HP:0010295 Aplasia/Hypoplasia of the tongue Occasional (29-5%)
HP:0010459 True hermaphroditism Occasional (29-5%)
HP:0100732 Pancreatic fibrosis Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 34

HPO ID Term # of case reports
HP:0010442 Polydactyly 25
HP:0002084 Encephalocele 11
HP:0001305 Dandy-Walker malformation 8
HP:0100259 Postaxial polydactyly 7
HP:0001395 Hepatic fibrosis 4
HP:0000238 Hydrocephalus 3
HP:0002323 Anencephaly 3
HP:0000107 Renal cyst 2
HP:0002617 Dilatation 2
HP:0000062 Ambiguous genitalia 1
HP:0000105 Enlarged kidney 1
HP:0000252 Microcephaly 1
HP:0000256 Macrocephaly 1
HP:0000347 Micrognathia 1
HP:0001407 Hepatic cysts 1
HP:0001408 Bile duct proliferation 1
HP:0001562 Oligohydramnios 1
HP:0001600 Abnormality of the larynx 1
HP:0001748 Polysplenia 1
HP:0001762 Talipes equinovarus 1
HP:0002007 Frontal bossing 1
HP:0002020 Gastroesophageal reflux 1
HP:0002410 Aqueductal stenosis 1
HP:0002414 Spina bifida 1
HP:0002436 Occipital meningocele 1
HP:0003150 Glutaric aciduria 1
HP:0004719 Hyperechogenic kidneys 1
HP:0006580 Portal fibrosis 1
HP:0006644 Thoracic dysplasia 1
HP:0006888 Meningoencephalocele 1
HP:0010866 Abdominal wall defect 1
HP:0012722 Heart block 1
HP:0100258 Preaxial polydactyly 1
HP:0100790 Hernia 1


Causative gene(s) retrieved from Orphanet

    Total: 15

Gene Symbol Gene Name Entrez Gene ID
CEP55 centrosomal protein 55 55165
TMEM107 transmembrane protein 107 84314
RPGRIP1 RPGR interacting protein 1 57096
CEP290 centrosomal protein 290 80184
TMEM67 transmembrane protein 67 91147
MKS1 MKS transition zone complex subunit 1 54903
RPGRIP1L RPGRIP1 like 23322
CC2D2A coiled-coil and C2 domain containing 2A 57545
TMEM216 transmembrane protein 216 51259
WDPCP WD repeat containing planar cell polarity effector 51057
TCTN2 tectonic family member 2 79867
B9D1 B9 domain containing 1 27077
B9D2 B9 domain containing 2 80776
TMEM231 transmembrane protein 231 79583
CSPP1 centrosome and spindle pole associated protein 1 79848