MKS1
MCID: MCK013
MIFTS: 67

Meckel Syndrome, Type 1 (MKS1)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Nephrological diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Meckel Syndrome, Type 1

MalaCards integrated aliases for Meckel Syndrome, Type 1:

Name: Meckel Syndrome, Type 1 57 28 12 5 38
Meckel-Gruber Syndrome 57 11 42 58 73 28 5 71 75 33
Meckel Syndrome 57 11 19 42 58 75 14 38 33
Dysencephalia Splanchnocystica 57 42 58 73
Meckel Syndrome 1 57 11 73 14
Gruber Syndrome 57 19 73
Mks1 57 11 73
Mks 57 19 42
Meckel-Gruber Syndrome, Type 1 57 11
Mes 57 73
Dysencephalia Splachnocystica 19
Meckel Gruber Syndrome 19
Meckel Syndrome Type 1 71

Characteristics:


Inheritance:

Meckel Syndrome, Type 1: Autosomal recessive 57
Meckel Syndrome: Autosomal recessive 58

Prevelance:

Meckel Syndrome: 1-9/100000 (France, Worldwide, Europe) <1/1000000 (France, Worldwide) 1-5/10000 (Finland) 58

Age Of Onset:

Meckel Syndrome: Antenatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
prenatal diagnosis by ultrasound
perinatal death


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare renal diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Meckel Syndrome, Type 1

MedlinePlus Genetics: 42 Meckel syndrome is a disorder with severe signs and symptoms that affect many parts of the body. The most common features are enlarged kidneys with numerous fluid-filled cysts; an occipital encephalocele, which is a sac-like protrusion of the brain through an opening at the back of the skull; and the presence of extra fingers and toes (polydactyly). Most affected individuals also have a buildup of scar tissue (fibrosis) in the liver.Other signs and symptoms of Meckel syndrome vary widely among affected individuals. Numerous abnormalities of the brain and spinal cord (central nervous system) have been reported in people with Meckel syndrome, including a group of birth defects known as neural tube defects. These defects occur when a structure called the neural tube, a layer of cells that ultimately develops into the brain and spinal cord, fails to close completely during the first few weeks of embryonic development. Meckel syndrome can also cause problems with development of the eyes and other facial features, heart, bones, urinary system, and genitalia.Because of their serious health problems, most individuals with Meckel syndrome die before or shortly after birth. Most often, affected infants die of respiratory problems or kidney failure.

MalaCards based summary: Meckel Syndrome, Type 1, also known as meckel-gruber syndrome, is related to meckel syndrome, type 6 and joubert syndrome 1. An important gene associated with Meckel Syndrome, Type 1 is MKS1 (MKS Transition Zone Complex Subunit 1), and among its related pathways/superpathways are Loss of Nlp from mitotic centrosomes and Organelle biogenesis and maintenance. Affiliated tissues include kidney, spinal cord and bone, and related phenotypes are microcephaly and multicystic kidney dysplasia

OMIM®: 57 Meckel syndrome, also known as Meckel-Gruber syndrome, is a severe pleiotropic autosomal recessive developmental disorder caused by dysfunction of primary cilia during early embryogenesis. There is extensive clinical variability and controversy as to the minimum diagnostic criteria. Early reports, including that of Opitz and Howe (1969) and Wright et al. (1994), stated that the classic triad of Meckel syndrome comprises (1) cystic renal disease; (2) a central nervous system malformation, most commonly occipital encephalocele; and (3) polydactyly, most often postaxial. However, based on a study of 67 patients, Salonen (1984) concluded that the minimum diagnostic criteria are (1) cystic renal disease; (2) CNS malformation, and (3) hepatic abnormalities, including portal fibrosis or ductal proliferation. In a review of Meckel syndrome, Logan et al. (2011) stated that the classic triad first described by Meckel (1822) included occipital encephalocele, cystic kidneys, and fibrotic changes to the liver. (249000) (Updated 08-Dec-2022)

GARD: 19 Meckel syndrome is a very severe disorder that is characterized by multiple cysts on the kidneys, protrusion of a portion of the brain through an opening in the skull (occipital encephalocele), and extra fingers or toes (polydactyly). Affected children may also have abnormalities affecting the head and face, liver, lungs, genitals, and urinary tract. Meckel syndrome is caused by genetic changes in one of eight genes, and it is inherited in an autosomal-recessive manner.

Orphanet: 58 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.

Disease Ontology 11 Meckel syndrome: A ciliopathy that is characterized by renal cystic dysplasia, occipital encephalocele, polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia.

Meckel syndrome 1: A Meckel syndrome that has material basis in an autosomal recessive mutation of MKS1 on chromosome 17q22.

UniProtKB/Swiss-Prot: 73 A disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly.

Wikipedia: 75 Meckel-Gruber syndrome is a rare, lethal ciliopathic genetic disorder, characterized by renal cystic... more...

Related Diseases for Meckel Syndrome, Type 1

Diseases in the Meckel Syndrome, Type 1 family:

Meckel Syndrome, Type 7 Meckel Syndrome, Type 2
Meckel Syndrome, Type 3 Meckel Syndrome, Type 4
Meckel Syndrome, Type 5 Meckel Syndrome, Type 6
Meckel Syndrome, Type 8 Meckel Syndrome, Type 10
Meckel Syndrome, Type 9 Meckel Syndrome, Type 11
Meckel Syndrome 12 Meckel Syndrome 13
Meckel Syndrome 14

Diseases related to Meckel Syndrome, Type 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 302)
# Related Disease Score Top Affiliating Genes
1 meckel syndrome, type 6 33.4 TMEM231 TCTN2 CEP290 CC2D2A B9D1
2 joubert syndrome 1 32.9 TMEM67 TMEM237 TMEM231 TMEM216 TMEM107 TCTN3
3 meckel syndrome, type 3 32.8 TMEM67 TMEM107 RPGRIP1L MKS1 CC2D2A
4 bardet-biedl syndrome 32.8 TMEM67 TMEM216 TMEM107 TCTN2 TCTN1 RPGRIP1L
5 meckel syndrome, type 2 32.8 TMEM231 TMEM216 MKS1 B9D2 B9D1
6 meckel syndrome, type 4 32.7 TMEM67 TMEM231 TMEM216 RPGRIP1L MKS1 CEP290
7 polydactyly 32.7 TMEM67 TMEM237 TMEM231 TMEM216 TMEM107 TCTN3
8 nephronophthisis 32.7 TMEM67 TMEM237 TMEM231 TMEM216 TMEM107 TCTN3
9 encephalocele 32.5 TMEM67 TMEM231 TCTN2 MKS1 CEP290 CC2D2A
10 cone-rod dystrophy 2 32.4 TMEM67 TMEM231 TMEM216 TCTN1 RPGRIP1L MKS1
11 fundus dystrophy 32.3 TMEM67 TMEM237 TMEM231 TMEM216 TMEM107 TCTN3
12 asphyxiating thoracic dystrophy 32.3 TMEM67 TMEM237 TMEM231 TMEM216 TCTN3 TCTN2
13 coach syndrome 1 32.3 TXNDC15 TMEM67 TMEM237 TMEM231 TMEM216 TCTN3
14 coloboma of macula 32.3 TMEM67 TMEM237 TMEM231 TMEM216 TCTN3 TCTN2
15 visceral heterotaxy 32.3 TMEM67 TMEM231 TMEM216 TCTN3 TCTN2 TCTN1
16 retinitis pigmentosa 32.3 TMEM67 TMEM231 TMEM216 TCTN2 RPGRIP1L MKS1
17 hydrolethalus syndrome 1 32.3 TMEM67 TCTN2 MKS1 B9D1
18 joubert syndrome 3 32.3 TMEM67 TMEM231 TMEM216 TCTN2 TCTN1 RPGRIP1L
19 joubert syndrome 5 32.3 TMEM67 TMEM216 TCTN2 TCTN1 RPGRIP1L MKS1
20 senior-loken syndrome 1 32.3 TMEM67 TMEM231 TMEM216 TCTN2 RPGRIP1L MKS1
21 cranioectodermal dysplasia 32.2 TMEM67 TMEM216 TCTN2 TCTN1 RPGRIP1L MKS1
22 polycystic kidney disease 4 with or without polycystic liver disease 32.2 TMEM67 TMEM231 TMEM216 TCTN2 RPGRIP1L MKS1
23 cystic kidney disease 32.2 TMEM67 TMEM216 TCTN2 RPGRIP1L MKS1 CEP290
24 orofaciodigital syndrome 32.2 TMEM67 TMEM231 TMEM216 TMEM107 TCTN3 TCTN2
25 primary ciliary dyskinesia 32.2 TMEM67 TMEM237 TMEM216 TCTN2 TCTN1 RPGRIP1L
26 situs inversus 32.2 TMEM67 TMEM216 RPGRIP1L MKS1 CEP290 CC2D2A
27 meckel syndrome, type 5 32.2 TMEM231 TMEM216 TCTN2 TCTN1 RPGRIP1L MKS1
28 joubert syndrome 2 32.2 TMEM67 TMEM216 RPGRIP1L MKS1 CEP290 CC2D2A
29 polycystic kidney disease 32.2 TMEM67 TMEM216 RPGRIP1L MKS1 CEP290 CC2D2A
30 nephronophthisis 2 32.1 RPGRIP1L MKS1 CEP290 CC2D2A B9D2
31 meckel syndrome, type 8 32.1 TCTN2 RPGRIP1L
32 leber congenital amaurosis 6 32.1 MKS1 CEP290
33 autosomal dominant polycystic kidney disease 32.1 TMEM67 RPGRIP1L MKS1 EXOC4 CEP290
34 renal-hepatic-pancreatic dysplasia 32.0 TMEM216 MKS1 CEP290
35 mckusick-kaufman syndrome 32.0 MKS1 EVC2 CEP290
36 chromosome 2q35 duplication syndrome 32.0 TMEM67 TMEM216 MKS1 EVC2
37 bardet-biedl syndrome 3 31.8 TMEM231 MKS1
38 bardet-biedl syndrome 11 31.6 MKS1 CEP290
39 ciliopathy 31.2 TMEM231 RPGRIP1L
40 leber plus disease 31.1 TMEM67 TMEM237 TMEM231 TMEM216 TCTN3 TCTN2
41 short-rib thoracic dysplasia 1 with or without polydactyly 31.0 TMEM67 TMEM237 TMEM231 TMEM216 TCTN3 TCTN2
42 joubert syndrome 14 30.9 TMEM237 TMEM231 TMEM216 TMEM107 RPGRIP1L B9D2
43 arima syndrome 30.8 TMEM237 TMEM231 TMEM216 CEP290 CC2D2A
44 joubert syndrome 20 30.8 TMEM237 TMEM231 TMEM216 TMEM107 RPGRIP1L CC2D2A
45 apraxia 30.7 TMEM67 TMEM216 TCTN3 TCTN2 TCTN1 RPGRIP1L
46 occipital encephalocele 30.7 TCTN3 CEP290
47 joubert syndrome 24 30.7 TMEM231 TCTN2 RPGRIP1L CEP290 B9D1
48 ellis-van creveld syndrome 30.6 TMEM67 TMEM216 RPGRIP1L KIAA0586 EVC2 CEP290
49 short-rib thoracic dysplasia 3 with or without polydactyly 30.4 TXNDC15 KIAA0586 EVC2
50 nephronophthisis 9 30.4 RPGRIP1L CEP290

Graphical network of the top 20 diseases related to Meckel Syndrome, Type 1:



Diseases related to Meckel Syndrome, Type 1

Symptoms & Phenotypes for Meckel Syndrome, Type 1

Human phenotypes related to Meckel Syndrome, Type 1:

58 30 (show top 50) (show all 104)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000252
2 multicystic kidney dysplasia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000003
3 postaxial hand polydactyly 58 30 Very rare (1%) Very frequent (99-80%)
HP:0001162
4 postaxial foot polydactyly 58 30 Very rare (1%) Very frequent (99-80%)
HP:0001830
5 encephalocele 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002084
6 congenital hepatic fibrosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002612
7 cataract 58 30 Frequent (33%) Frequent (79-30%)
HP:0000518
8 hypertelorism 58 30 Frequent (33%) Frequent (79-30%)
HP:0000316
9 optic atrophy 58 30 Frequent (33%) Frequent (79-30%)
HP:0000648
10 full cheeks 58 30 Frequent (33%) Frequent (79-30%)
HP:0000293
11 cleft palate 58 30 Frequent (33%) Frequent (79-30%)
HP:0000175
12 cryptorchidism 58 30 Frequent (33%) Frequent (79-30%)
HP:0000028
13 micrognathia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000347
14 depressed nasal ridge 58 30 Frequent (33%) Frequent (79-30%)
HP:0000457
15 low-set, posteriorly rotated ears 58 30 Frequent (33%) Frequent (79-30%)
HP:0000368
16 microphthalmia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000568
17 talipes 58 30 Frequent (33%) Frequent (79-30%)
HP:0001883
18 aplasia/hypoplasia of the iris 58 30 Frequent (33%) Frequent (79-30%)
HP:0008053
19 sclerocornea 58 30 Frequent (33%) Frequent (79-30%)
HP:0000647
20 microcornea 58 30 Frequent (33%) Frequent (79-30%)
HP:0000482
21 sloping forehead 58 30 Frequent (33%) Frequent (79-30%)
HP:0000340
22 oligohydramnios 58 30 Frequent (33%) Frequent (79-30%)
HP:0001562
23 lobar holoprosencephaly 58 30 Frequent (33%) Frequent (79-30%)
HP:0006870
24 abnormal chorioretinal morphology 30 Frequent (33%) HP:0000532
25 hydrocephalus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000238
26 bowing of the long bones 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0006487
27 anophthalmia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000528
28 dandy-walker malformation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001305
29 preaxial hand polydactyly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001177
30 male pseudohermaphroditism 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000037
31 furrowed tongue 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000221
32 aplasia/hypoplasia of the corpus callosum 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007370
33 ureteral duplication 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000073
34 situs inversus totalis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001696
35 urethral atresia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000068
36 pancreatic cysts 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001737
37 asplenia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001746
38 accessory spleen 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001747
39 anencephaly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002323
40 cystic liver disease 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0006706
41 aplasia/hypoplasia of the tongue 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010295
42 true hermaphroditism 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010459
43 pancreatic fibrosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100732
44 agenesis of corpus callosum 30 Very rare (1%) HP:0001274
45 ptosis 30 Very rare (1%) HP:0000508
46 global developmental delay 30 Very rare (1%) HP:0001263
47 smooth philtrum 30 Very rare (1%) HP:0000319
48 absent speech 30 Very rare (1%) HP:0001344
49 thin upper lip vermilion 30 Very rare (1%) HP:0000219
50 polycystic kidney dysplasia 30 Very rare (1%) HP:0000113

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neurologic Central Nervous System:
hydrocephalus
dandy-walker malformation
arnold-chiari malformation
cerebellar hypoplasia
anencephaly
more
Abdomen Spleen:
splenomegaly
asplenia
accessory spleen

Head And Neck Head:
microcephaly

Genitourinary Internal Genitalia Male:
cryptorchidism

Head And Neck Ears:
low-set ears

Cardiovascular Vascular:
patent ductus arteriosus

Abdomen Gastrointestinal:
intestinal malrotation
omphalocele
single umbilical artery
imperforate anus

Genitourinary External Genitalia Female:
ambiguous genitalia
small genitalia

Respiratory Lung:
pulmonary hypoplasia

Endocrine Features:
adrenal hypoplasia

Prenatal Manifestations Delivery:
breech presentation

Skeletal Limbs:
bowed long bones

Respiratory Larynx:
cleft epiglottis

Genitourinary Ureters:
duplicated ureters

Prenatal Manifestations Placenta And Umbilical Cord:
placental enlargement

Head And Neck Neck:
short neck
webbed neck

Head And Neck Eyes:
hypertelorism
iris coloboma
microphthalmia
hypotelorism

Head And Neck Mouth:
cleft palate
lobulated tongue
cleft lip
macrostomia
natal teeth

Head And Neck Face:
micrognathia
sloping forehead
potter-like facies

Cardiovascular Heart:
coarctation of aorta
septal defects

Skeletal Feet:
talipes
polydactyly

Genitourinary External Genitalia Male:
ambiguous genitalia
small genitalia

Prenatal Manifestations Amniotic Fluid:
oligohydramnios
elevated amniotic alpha-fetoprotein in affected fetuses with encephalocele

Genitourinary Kidneys:
renal agenesis
polycystic kidneys

Skeletal Hands:
clinodactyly
syndactyly
postaxial polydactyly

Abdomen Biliary Tract:
bile duct proliferation
bile duct dilatation

Growth Other:
variable prenatal growth deficiency

Genitourinary Internal Genitalia Female:
separated vagina
uterine abnormalities

Genitourinary Bladder:
hypoplastic bladder

Clinical features from OMIM®:

249000 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Meckel Syndrome, Type 1:

45 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.4 B9D1 B9D2 CC2D2A CEP290 EVC2 KIAA0586
2 limbs/digits/tail MP:0005371 10.32 B9D1 B9D2 CC2D2A EVC2 KIAA0586 MKS1
3 growth/size/body region MP:0005378 10.3 B9D1 B9D2 CC2D2A CEP290 EVC2 EXOC4
4 embryo MP:0005380 10.25 B9D1 B9D2 CC2D2A EXOC4 KIAA0586 MKS1
5 cellular MP:0005384 10.13 B9D1 B9D2 CC2D2A CEP290 EVC2 KIAA0586
6 renal/urinary system MP:0005367 10.11 B9D1 B9D2 CC2D2A CEP290 MKS1 RPGRIP1L
7 craniofacial MP:0005382 10.11 B9D1 B9D2 CC2D2A CEP290 EVC2 KIAA0586
8 liver/biliary system MP:0005370 10.1 B9D1 B9D2 CEP290 EVC2 MKS1 RPGRIP1L
9 cardiovascular system MP:0005385 10.07 B9D1 B9D2 CC2D2A CEP290 EVC2 KIAA0586
10 digestive/alimentary MP:0005381 10.06 B9D1 B9D2 CC2D2A EVC2 MKS1 RPGRIP1L
11 skeleton MP:0005390 9.85 B9D2 CEP290 CSPP1 EVC2 KIAA0586 MKS1
12 vision/eye MP:0005391 9.7 B9D1 B9D2 CC2D2A CEP290 MKS1 RPGRIP1L
13 mortality/aging MP:0010768 9.5 B9D1 B9D2 CC2D2A CEP290 EVC2 EXOC4

Drugs & Therapeutics for Meckel Syndrome, Type 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource (Hepato/Renal Fibrocystic Diseases Core Center (UAB HFRDCC)) Recruiting NCT01401998

Search NIH Clinical Center for Meckel Syndrome, Type 1

Genetic Tests for Meckel Syndrome, Type 1

Genetic tests related to Meckel Syndrome, Type 1:

# Genetic test Affiliating Genes
1 Meckel-Gruber Syndrome 28
2 Meckel Syndrome, Type 1 28 MKS1

Anatomical Context for Meckel Syndrome, Type 1

Organs/tissues related to Meckel Syndrome, Type 1:

MalaCards : Kidney, Spinal Cord, Bone, Liver, Brain, Eye, Heart
ODiseA: Brain, Brain-Cerebellum, Kidney

Publications for Meckel Syndrome, Type 1

Articles related to Meckel Syndrome, Type 1:

(show top 50) (show all 615)
# Title Authors PMID Year
1
A disease causing deletion of 29 base pairs in intron 15 in the MKS1 gene is highly associated with the campomelic variant of the Meckel-Gruber syndrome. 62 57 5
17935508 2007
2
Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3. 62 57 5
17377820 2007
3
MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome. 62 57 5
16415886 2006
4
Two novel B9D1 variants causing Joubert syndrome: Utility of mRNA and splicing studies. 62 5
32622957 2020
5
Diagnostic use of computational retrotransposon detection: Successful definition of pathogenetic mechanism in a ciliopathy phenotype. 62 5
28374938 2017
6
Hypomorphic MKS1 mutation in a Pakistani family with mild Joubert syndrome and atypical features: Expanding the phenotypic spectrum of MKS1-related ciliopathies. 62 5
27570071 2016
7
Characterizing the morbid genome of ciliopathies. 62 5
27894351 2016
8
Joubert syndrome: genotyping a Northern European patient cohort. 62 5
25920555 2016
9
MKS1 regulates ciliary INPP5E levels in Joubert syndrome. 62 5
26490104 2016
10
The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway. 62 5
26035863 2015
11
First-trimester diagnosis of Meckel-Gruber syndrome by fetal ultrasound with molecular identification of CC2D2A mutations by next-generation sequencing. 62 5
24706459 2014
12
Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome. 62 5
24886560 2014
13
12q21 Microdeletion in a fetus with Meckel syndrome involving CEP290/MKS4. 62 5
23954617 2013
14
Identification of deleterious synonymous variants in human genomes. 62 5
23736532 2013
15
Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies. 62 5
23351400 2012
16
Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures. 62 5
22241855 2012
17
A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition. 62 5
21725307 2011
18
B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis. 62 5
21493627 2011
19
A TCTN2 mutation defines a novel Meckel Gruber syndrome locus. 62 57
21462283 2011
20
Molecular genetics and pathogenic mechanisms for the severe ciliopathies: insights into neurodevelopment and pathogenesis of neural tube defects. 62 57
21110233 2011
21
Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy. 62 5
21068128 2011
22
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. 62 5
20232449 2010
23
A mouse model for Meckel syndrome reveals Mks1 is required for ciliogenesis and Hedgehog signaling. 62 57
19776033 2009
24
CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation. 62 5
19777577 2009
25
Expanding CEP290 mutational spectrum in ciliopathies. 62 5
19764032 2009
26
Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). 62 5
19508969 2009
27
MKS3-related ciliopathy with features of autosomal recessive polycystic kidney disease, nephronophthisis, and Joubert Syndrome. 62 5
19540516 2009
28
Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups? 62 5
19466712 2009
29
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement. 62 5
19058225 2009
30
RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders. 62 5
18565097 2008
31
Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. 62 5
18327255 2008
32
Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome. 62 5
17705300 2008
33
Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. 62 5
17564974 2007
34
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. 62 5
17558409 2007
35
Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome. 62 5
17437276 2007
36
Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online. 62 5
17397051 2007
37
The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. 62 5
17160906 2007
38
The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation. 62 5
17185389 2007
39
Meckel on developmental pathology. 62 57
16353245 2006
40
Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome. 62 57
15666242 2005
41
High-resolution physical and genetic mapping of the critical region for Meckel syndrome and Mulibrey Nanism on chromosome 17q22-q23. 62 57
10077533 1999
42
Clinical and genetic heterogeneity in Meckel syndrome. 62 57
9385376 1997
43
Associated malformations in the family of a patient with Meckel syndrome: heterozygous expression? 62 57
9391891 1997
44
Meckel syndrome and Dandy Walker malformation. 62 57
8867663 1996
45
The locus for Meckel syndrome with multiple congenital anomalies maps to chromosome 17q21-q24. 62 57
7550354 1995
46
Dandy-Walker malformation in the Meckel syndrome. 62 57
7702098 1995
47
Polydactyly in a carrier of the gene for the Meckel syndrome. 62 57
7856653 1994
48
Meckel syndrome: what are the minimum diagnostic criteria? 62 57
8071976 1994
49
Cerebro-reno-digital (Meckel-like) syndrome with Dandy-Walker malformation, cystic kidneys, hepatic fibrosis, and polydactyly. 62 57
8368252 1993
50
Dandy-Walker malformation (variant), cystic dysplastic kidneys, and hepatic fibrosis: a distinct entity or Meckel syndrome? 62 57
1867280 1991

Variations for Meckel Syndrome, Type 1

ClinVar genetic disease variations for Meckel Syndrome, Type 1:

5 (show top 50) (show all 5023)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MKS1 NM_017777.4(MKS1):c.50_54dup (p.Asp19fs) DUP Pathogenic
1389 rs730880323 GRCh37: 17:56296537-56296538
GRCh38: 17:58219176-58219177
2 MKS1 NM_017777.4(MKS1):c.1066C>T (p.Gln356Ter) SNV Pathogenic
191083 rs786205508 GRCh37: 17:56285903-56285903
GRCh38: 17:58208542-58208542
3 CEP290 NM_025114.4(CEP290):c.673_674del (p.Leu225fs) DEL Pathogenic
266093 rs886039805 GRCh37: 12:88523649-88523650
GRCh38: 12:88129872-88129873
4 MKS1 NM_017777.4(MKS1):c.261+2T>A SNV Pathogenic
266091 rs886039803 GRCh37: 17:56294025-56294025
GRCh38: 17:58216664-58216664
5 B9D1 NM_015681.6(B9D1):c.285_341+154del DEL Pathogenic
635892 rs1598057395 GRCh37: 17:19250943-19251153
GRCh38: 17:19347630-19347840
6 CC2D2A NM_001378615.1(CC2D2A):c.3626del (p.Pro1209fs) DEL Pathogenic
1334771 GRCh37: 4:15575800-15575800
GRCh38: 4:15574177-15574177
7 MKS1 NM_017777.4(MKS1):c.844C>T (p.Arg282Ter) SNV Pathogenic
Likely Pathogenic
211503 rs797045706 GRCh37: 17:56290357-56290357
GRCh38: 17:58212996-58212996
8 MKS1 NM_017777.4(MKS1):c.515+1G>A SNV Pathogenic
Pathogenic
Likely Pathogenic
56624 rs201933838 GRCh37: 17:56292101-56292101
GRCh38: 17:58214740-58214740
9 CC2D2A NM_001378615.1(CC2D2A):c.1017+1G>A SNV Pathogenic
166801 rs200407856 GRCh37: 4:15517628-15517628
GRCh38: 4:15516005-15516005
10 CEP290 NM_025114.4(CEP290):c.4621del (p.Thr1541fs) DEL Pathogenic
Pathogenic
126260 rs587779733 GRCh37: 12:88478446-88478446
GRCh38: 12:88084669-88084669
11 RPGRIP1L NM_015272.5(RPGRIP1L):c.1072_1073dup (p.Leu358fs) DUP Pathogenic
406250 rs1060501006 GRCh37: 16:53705451-53705452
GRCh38: 16:53671539-53671540
12 MKS1 NM_017777.4(MKS1):c.1408-1dup DUP Pathogenic
Pathogenic
435876 rs762668200 GRCh37: 17:56283904-56283905
GRCh38: 17:58206543-58206544
13 CC2D2A NM_001378615.1(CC2D2A):c.3988C>T (p.Arg1330Ter) SNV Pathogenic
461750 rs758036385 GRCh37: 4:15587792-15587792
GRCh38: 4:15586169-15586169
14 CEP290 NM_025114.4(CEP290):c.1474A>T (p.Lys492Ter) SNV Pathogenic
461774 rs1278679056 GRCh37: 12:88513939-88513939
GRCh38: 12:88120162-88120162
15 CEP290 NM_025114.4(CEP290):c.4438-3del DEL Pathogenic
449448 rs747323414 GRCh37: 12:88478632-88478632
GRCh38: 12:88084855-88084855
16 TCTN2 NM_024809.5(TCTN2):c.652_659dup (p.Ala221fs) DUP Pathogenic
461767 rs915737037 GRCh37: 12:124171469-124171470
GRCh38: 12:123686922-123686923
17 TCTN2 NM_024809.5(TCTN2):c.524dup (p.Leu175fs) DUP Pathogenic
461766 rs760034947 GRCh37: 12:124163793-124163794
GRCh38: 12:123679246-123679247
18 CC2D2A NM_001378615.1(CC2D2A):c.4465_4468del (p.Asp1489fs) DEL Pathogenic
210612 rs797045437 GRCh37: 4:15599055-15599058
GRCh38: 4:15597432-15597435
19 RPGRIP1L NM_015272.5(RPGRIP1L):c.1843A>C (p.Thr615Pro) SNV Pathogenic
1069 rs121918198 GRCh37: 16:53686756-53686756
GRCh38: 16:53652844-53652844
20 RPGRIP1L NM_015272.5(RPGRIP1L):c.1329dup (p.Arg444fs) DUP Pathogenic
569914 rs749987648 GRCh37: 16:53692704-53692705
GRCh38: 16:53658792-53658793
21 CEP290 NM_025114.4(CEP290):c.2052+1_2052+2del DEL Pathogenic
236466 rs747835249 GRCh37: 12:88508195-88508196
GRCh38: 12:88114418-88114419
22 TMEM67 NM_153704.6(TMEM67):c.1413-1G>C SNV Pathogenic
56767 rs386834185 GRCh37: 8:94800071-94800071
GRCh38: 8:93787843-93787843
23 CC2D2A NM_001378615.1(CC2D2A):c.964del (p.Val322fs) DEL Pathogenic
639409 rs1577340510 GRCh37: 4:15517573-15517573
GRCh38: 4:15515950-15515950
24 CC2D2A NM_001378615.1(CC2D2A):c.4084dup (p.Ala1362fs) DUP Pathogenic
640187 rs1313708855 GRCh37: 4:15589455-15589456
GRCh38: 4:15587832-15587833
25 CEP290 NM_025114.4(CEP290):c.5415del (p.Thr1807fs) DEL Pathogenic
640238 rs1592808035 GRCh37: 12:88471645-88471645
GRCh38: 12:88077868-88077868
26 RPGRIP1L NM_015272.5(RPGRIP1L):c.946C>T (p.Gln316Ter) SNV Pathogenic
640512 rs1598375579 GRCh37: 16:53706865-53706865
GRCh38: 16:53672953-53672953
27 CEP290 NM_025114.4(CEP290):c.4452_4455del (p.Lys1484fs) MICROSAT Pathogenic
217628 rs780624853 GRCh37: 12:88478612-88478615
GRCh38: 12:88084835-88084838
28 TMEM67 NM_153704.6(TMEM67):c.1373dup (p.Pro459fs) DUP Pathogenic
643113 rs1586051330 GRCh37: 8:94798534-94798535
GRCh38: 8:93786306-93786307
29 CEP290 NM_025114.4(CEP290):c.4186C>T (p.Gln1396Ter) SNV Pathogenic
643269 rs1459653241 GRCh37: 12:88481565-88481565
GRCh38: 12:88087788-88087788
30 RPGRIP1L NM_015272.5(RPGRIP1L):c.1489G>T (p.Glu497Ter) SNV Pathogenic
279885 rs756821449 GRCh37: 16:53691457-53691457
GRCh38: 16:53657545-53657545
31 RPGRIP1L NM_015272.5(RPGRIP1L):c.583A>T (p.Lys195Ter) SNV Pathogenic
591393 rs1277577195 GRCh37: 16:53721824-53721824
GRCh38: 16:53687912-53687912
32 CEP290 NM_025114.4(CEP290):c.3104-5T>G SNV Pathogenic
665874 rs1302558061 GRCh37: 12:88487757-88487757
GRCh38: 12:88093980-88093980
33 CEP290 NM_025114.4(CEP290):c.5728_5731del (p.Ile1910fs) MICROSAT Pathogenic
665875 rs754728136 GRCh37: 12:88465682-88465685
GRCh38: 12:88071905-88071908
34 TCTN2 NC_000012.12:g.(?_123699684)_(123699830_?)del DEL Pathogenic
832383 GRCh37: 12:124184231-124184377
GRCh38:
35 RPGRIP1L NM_015272.5(RPGRIP1L):c.1052T>A (p.Leu351Ter) SNV Pathogenic
840356 rs1968731636 GRCh37: 16:53705473-53705473
GRCh38: 16:53671561-53671561
36 RPGRIP1L NM_015272.5(RPGRIP1L):c.2466del (p.Phe822fs) DEL Pathogenic
844309 rs1966507642 GRCh37: 16:53679754-53679754
GRCh38: 16:53645842-53645842
37 MKS1 NM_017777.4(MKS1):c.564_565insTTCT (p.Glu189delinsPheTer) INSERT Pathogenic
856498 rs1969063562 GRCh37: 17:56291699-56291700
GRCh38: 17:58214338-58214339
38 MKS1 NM_017777.4(MKS1):c.1450_1453dup (p.Thr485fs) DUP Pathogenic
Pathogenic/Likely Pathogenic
56617 rs386834044 GRCh37: 17:56283862-56283863
GRCh38: 17:58206501-58206502
39 CEP290 NM_025114.4(CEP290):c.6836T>A (p.Leu2279Ter) SNV Pathogenic
858111 rs2033943937 GRCh37: 12:88449477-88449477
GRCh38: 12:88055700-88055700
40 CEP290 NM_025114.4(CEP290):c.5873_5874del (p.Leu1958fs) DEL Pathogenic
861542 rs2035367210 GRCh37: 12:88465208-88465209
GRCh38: 12:88071431-88071432
41 TCTN1 NM_001082538.3(TCTN1):c.436dup (p.Ile146fs) DUP Pathogenic
862398 rs2065847886 GRCh37: 12:111064260-111064261
GRCh38: 12:110626455-110626456
42 RPGRIP1L NM_015272.5(RPGRIP1L):c.1290_1291del (p.Tyr431fs) DEL Pathogenic
862715 rs1381634873 GRCh37: 16:53692743-53692744
GRCh38: 16:53658831-53658832
43 CC2D2A NM_001378615.1(CC2D2A):c.2222_2229dup (p.Phe744fs) DUP Pathogenic
864745 rs1471484901 GRCh37: 4:15552485-15552486
GRCh38: 4:15550862-15550863
44 MKS1 NM_017777.4(MKS1):c.367C>T (p.Arg123Ter) SNV Pathogenic
Pathogenic
917949 rs762482919 GRCh37: 17:56293499-56293499
GRCh38: 17:58216138-58216138
45 CEP290 NM_025114.4(CEP290):c.338T>A (p.Leu113Ter) SNV Pathogenic
934120 rs2040373653 GRCh37: 12:88530523-88530523
GRCh38: 12:88136746-88136746
46 CEP290 NM_025114.4(CEP290):c.4808_4812del (p.Ala1603fs) DEL Pathogenic
934584 rs2036372197 GRCh37: 12:88477624-88477628
GRCh38: 12:88083847-88083851
47 CEP290 NM_025114.4(CEP290):c.1338del (p.Arg447fs) DEL Pathogenic
945769 rs2039364798 GRCh37: 12:88514795-88514795
GRCh38: 12:88121018-88121018
48 CEP290 NM_025114.4(CEP290):c.3814C>T (p.Arg1272Ter) SNV Pathogenic
99852 rs62640581 GRCh37: 12:88483024-88483024
GRCh38: 12:88089247-88089247
49 RPGRIP1L NM_015272.5(RPGRIP1L):c.1603del (p.Arg535fs) DEL Pathogenic
947460 rs771264753 GRCh37: 16:53690480-53690480
GRCh38: 16:53656568-53656568
50 RPGRIP1L NM_015272.5(RPGRIP1L):c.1278del (p.Glu426fs) DEL Pathogenic
948049 rs1967510088 GRCh37: 16:53692756-53692756
GRCh38: 16:53658844-53658844

UniProtKB/Swiss-Prot genetic disease variations for Meckel Syndrome, Type 1:

73
# Symbol AA change Variation ID SNP ID
1 MKS1 p.Asp19Tyr VAR_077515 rs863225205

Copy number variations for Meckel Syndrome, Type 1 from CNVD:

6
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 33748 1 47600000 59900000 Copy number Meckel-Gruber syndrome

Expression for Meckel Syndrome, Type 1

Search GEO for disease gene expression data for Meckel Syndrome, Type 1.

Pathways for Meckel Syndrome, Type 1

GO Terms for Meckel Syndrome, Type 1

Cellular components related to Meckel Syndrome, Type 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 centrosome GO:0005813 10.33 B9D1 B9D2 CEP290 CSPP1 EXOC4 KIAA0586
2 ciliary transition zone GO:0035869 10.3 CC2D2A B9D2 B9D1 CEP290 MKS1 RPGRIP1L
3 cytoskeleton GO:0005856 10.28 B9D1 B9D2 CC2D2A CEP290 CSPP1 EVC2
4 ciliary basal body GO:0036064 10.21 RPGRIP1L MKS1 KIAA0586 CEP290 B9D2 B9D1
5 ciliary membrane GO:0060170 10.15 TXNDC15 TMEM67 TMEM231 TCTN3 TCTN2 EVC2
6 cilium GO:0005929 10.09 TXNDC15 TMEM67 TMEM237 TMEM231 TMEM216 TMEM107
7 photoreceptor connecting cilium GO:0032391 9.93 TMEM237 RPGRIP1L CEP290
8 cell projection GO:0042995 9.89 TXNDC15 TMEM67 TMEM237 TMEM231 TMEM216 TMEM107
9 microtubule organizing center GO:0005815 9.88 RPGRIP1L MKS1 KIAA0586 CSPP1 CEP290
10 MKS complex GO:0036038 9.66 B9D1 B9D2 CC2D2A CEP290 MKS1 TCTN1

Biological processes related to Meckel Syndrome, Type 1 according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 10.15 TMEM216 TMEM107 TCTN3 TCTN2 TCTN1 RPGRIP1L
2 in utero embryonic development GO:0001701 10.13 TMEM231 TCTN1 RPGRIP1L B9D1
3 non-motile cilium assembly GO:1905515 10.03 CC2D2A CEP290 MKS1 RPGRIP1L TMEM107 TMEM216
4 camera-type eye development GO:0043010 10.02 TMEM231 RPGRIP1L CEP290 CC2D2A B9D1
5 embryonic digit morphogenesis GO:0042733 10.01 TMEM231 TMEM107 MKS1 B9D1
6 smoothened signaling pathway GO:0007224 10 TMEM231 TCTN3 TCTN2 KIAA0586 EVC2 CC2D2A
7 determination of left/right symmetry GO:0007368 9.98 CC2D2A MKS1 RPGRIP1L TMEM107
8 protein localization to ciliary transition zone GO:1904491 9.92 TMEM107 TCTN2 TCTN1 CC2D2A
9 embryonic brain development GO:1990403 9.85 MKS1 CC2D2A
10 regulation of smoothened signaling pathway GO:0008589 9.85 TCTN1 RPGRIP1L MKS1
11 neuroepithelial cell differentiation GO:0060563 9.81 TMEM231 B9D1
12 regulation of establishment of protein localization GO:0070201 9.8 KIAA0586 CEP290
13 neural tube patterning GO:0021532 9.78 TMEM107 RPGRIP1L
14 head development GO:0060322 9.71 RPGRIP1L MKS1
15 cell projection organization GO:0030030 9.5 B9D1 B9D2 CC2D2A CEP290 KIAA0586 MKS1

Sources for Meckel Syndrome, Type 1

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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