MKS
MCID: MCK006
MIFTS: 51

Meckel Syndrome (MKS) malady

Immune diseases category

Summaries for Meckel Syndrome

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8Disease Ontology, 21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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. because of these serious health problems, most infants with meckel syndrome do not survive for long after birth. meckel syndrome is caused by mutations in one of eight genes, and it is inherited in an autosomal-recessive manner.  last updated: 5/30/2012

MalaCards: Meckel Syndrome, also known as meckel gruber syndrome, is related to polydactyly and meckel syndrome 4. An important gene associated with Meckel Syndrome is TMEM67 (transmembrane protein 67). Affiliated tissues include kidney, liver and brain, and related mouse phenotypes are taste/olfaction and skeleton.

Disease Ontology:8 An autosomal recessive disease that is characterized by renal cystic dysplasia, occipital encephalocele, polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia caused by dysfunction of primary cilia (ciliopathy) during early embryogenesis.

Genetics Home Reference:21 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.

Wikipedia:63 Meckel syndrome (also known as Meckel–Gruber Syndrome, Gruber Syndrome, Dysencephalia... more...

Description from OMIM:46 249000

Aliases & Classifications for Meckel Syndrome

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8Disease Ontology, 42NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 22GTR, 46OMIM
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Immune diseases


Aliases & Descriptions:

meckel syndrome 8 42 20 21
meckel gruber syndrome 42 22
meckel-gruber syndrome 8 21
mks 42 21
dysencephalia splanchnocystica 21
dysencephalia splachnocystica 42
gruber syndrome 42


External Ids:

Disease Ontology8 DOID:0050778
OMIM46 249000

Related Diseases for Meckel Syndrome

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17GeneCards, 18GeneDecks
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Diseases in the Meckel Syndrome 1 family:

meckel syndrome Meckel Syndrome Type 2
Meckel Syndrome Type 3 Mks1-Related Meckel Syndrome
Tmem216-Related Meckel Syndrome Tmem67-Related Meckel Syndrome
Cep290-Related Meckel Syndrome Rpgrip1l-Related Meckel Syndrome
Cc2d2a-Related Meckel Syndrome Nphp3-Related Meckel Syndrome
B9d1-Related Meckel Syndrome B9d2-Related Meckel Syndrome
Tctn2-Related Meckel Syndrome Meckel Syndrome 7
Meckel Syndrome 6 Meckel Syndrome 4
Meckel Syndrome 8 Meckel Syndrome 5
Meckel Syndrome, Type 11 Meckel Syndrome 9
Meckel Syndrome 10

Diseases related to Meckel Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 81)
idRelated DiseaseScoreTop Affiliating Genes
1polydactyly30.3ARL6, SHH, MKS1, MKKS, TTC8, TMEM216
2meckel syndrome 430.2LCA10, CEP290
3joubert syndrome30.2CEP290, TMEM67, CC2D2A, RPGRIP1L
4mckusick-kaufman syndrome30.1MKKS
5asphyxiating thoracic dystrophy29.9CC2D2A
6bardet-biedl syndrome29.9MKKS
7cystic kidney29.9CEP290, TMEM67, MKS1, NPHP3, B9D1, B9D2
8meckel syndrome 110.4
9meckel syndrome type 210.3
10meckel syndrome type 310.3
11meckel syndrome 710.3
12microcytic anemia10.3
13renal agenesis10.2
14meningocele10.2
15hypoplastic left heart syndrome10.2
16dwarfism10.2
17nephronophthisis 1, juvenile10.2
18dandy-walker syndrome10.2
19meckel syndrome 910.2
20hiatus hernia10.2
21cc2d2a-related meckel syndrome10.2
22meckel syndrome 810.2
23menkes disease10.2
24smith-lemli-opitz syndrome10.1
25hepatitis10.1
26mks1-related meckel syndrome10.1
27tmem216-related meckel syndrome10.1
28tmem67-related meckel syndrome10.1
29cep290-related meckel syndrome10.1
30rpgrip1l-related meckel syndrome10.1
31nphp3-related meckel syndrome10.1
32b9d1-related meckel syndrome10.1
33b9d2-related meckel syndrome10.1
34tctn2-related meckel syndrome10.1
35meckel syndrome 610.1
36meckel syndrome 510.1
37meckel syndrome, type 1110.1
38meckel syndrome 1010.1
39leukemia10.1
40apraxia10.0TMEM216
41leber congenital amaurosis10.0CEP290
42joubert syndrome 210.0TMEM216
43retinal degeneration10.0CEP290, MKKS
44mental retardation10.0SHH
45intellectual disability10.0BBS1
46bardet-biedl syndrome 1410.0LCA10, CEP290
47coach syndrome10.0TMEM67, CC2D2A, RPGRIP1L
48joubert syndrome with oculorenal anomalies10.0CEP290, LCA10
49leber congenital amaurosis 1010.0LCA10, CEP290
50senior-loken syndrome 610.0LCA10, CEP290

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



Diseases related to meckel syndrome

Clinical Features for Meckel Syndrome

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46OMIM
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Clinical features from OMIM:

249000

Drugs & Therapeutics for Meckel Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Meckel Syndrome

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20GeneTests, 22GTR
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Genetic tests related to Meckel Syndrome:

id Genetic test Affiliating Genes
1 Meckel Syndrome20 TMEM67
2 Meckel-Gruber Syndrome22

Anatomical Context for Meckel Syndrome

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32MalaCards
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MalaCards organs/tissues related to Meckel Syndrome:

32
Kidney, Liver, Brain, Lung, Bone, Heart, Pituitary

Animal Models for Meckel Syndrome or affiliated genes

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36MGI
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Publications for Meckel Syndrome

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50PubMed
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Articles related to Meckel Syndrome:

(show top 50)    (show all 121)
idTitleAuthorsYear
1
12q21 Microdeletion in a fetus with Meckel syndrome involving CEP290/MKS4. (23954617)
2013
2
Analysis of human samples reveals impaired SHH-dependent cerebellar development in Joubert syndrome/Meckel syndrome. (23027964)
2012
3
Acceleration of the meckel syndrome by near-infrared light therapy. (22470396)
2011
4
B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis. (21493627)
2011
5
Meckel-Gruber syndrome protein MKS3 is required for endoplasmic reticulum-associated degradation of surfactant protein C. (19815549)
2009
6
Combination of cor triatriatum sinistrum and hypoplastic left heart syndrome in Meckel-Gruber syndrome: a case report. (19358626)
2009
7
Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle. (18513680)
2008
8
Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome. (17705300)
2008
9
Meckel syndrome in the Hutterite population is actually a Joubert-related cerebello-oculo-renal syndrome. (17603801)
2007
10
The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. (17160906)
2007
11
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. (17935508)
2007
12
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. (17558409)
2007
13
Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3. (17377820)
2007
14
The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat. (16415887)
2006
15
Prenatal diagnosis of Meckel Gruber syndrome presenting with renal agenesis: report of a case. (16719279)
2006
16
The beat goes on: ciliary proteins are defective in Meckel syndrome. (16650076)
2006
17
Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome. (15666242)
2005
18
Malformations of cranial base structures and pituitary gland in prenatal Meckel syndrome. (10549591)
1999
19
High-resolution physical and genetic mapping of the critical region for Meckel syndrome and Mulibrey Nanism on chromosome 17q22-q23. (10077533)
1999
20
Meckel syndrome. (9643292)
1998
21
Skeletal abnormalities in Meckel syndrome. (9211556)
1997
22
Clinical and genetic heterogeneity in Meckel syndrome. (9385376)
1997
23
Meckel syndrome and Dandy Walker malformation. (8867663)
1996
24
Meckel-Gruber syndrome associated with short limbed dwarfism. (9715303)
1996
25
Dandy-Walker malformation in the Meckel syndrome. (7702098)
1995
26
Cerebro-reno-digital (Meckel-like) syndrome with Dandy-Walker malformation, cystic kidneys, hepatic fibrosis, and polydactyly. (8368252)
1993
27
Meckel syndrome: prenatal ultrasonographic diagnosis in two cases showing marked differences in phenotypic expression. (1632751)
1992
28
Dandy-Walker malformation in the Meckel syndrome. (2063927)
1991
29
Fetal diagnosis of the Meckel syndrome. (1879912)
1991
30
Early prenatal diagnosis of Meckel syndrome--a case report. (2176925)
1990
31
Meckel syndrome in twins. (2609437)
1989
32
The Meckel syndrome in an Irish population: a post mortem study. (3248931)
1988
33
Encephalocele, polycystic kidneys, and polydactyly with other defects. A necropsy case of Meckel syndrome and a review of literature. (3604681)
1987
34
Brain pathology in the Meckel syndrome: a study of 59 cases. (3995807)
1985
35
The Meckel syndrome: clinicopathological findings in 67 patients. (6486167)
1984
36
Roentgenologic features of the Meckel syndrome. (6646886)
1983
37
Gross anatomical studies of a newborn with the Meckel syndrome. (6648819)
1983
38
The Meckel Syndrome. Pathological and cytogenetic observations in eight cases. (6132872)
1982
39
Ultrasonographic parameters in the prenatal diagnosis of Meckel syndrome. (7465155)
1981
40
Prenatal diagnosis of the Meckel syndrome. (6165942)
1981
41
Oligohydramnios hampering prenatal diagnosis of Meckel syndrome. (7211955)
1980
42
Prenatal diagnosis of Meckel syndrome. (7205201)
1980
43
Prenatal diagnosis of polycystic kidneys and encephalocele (Meckel syndrome). (84722)
1979
44
Prenatal diagnosis of Meckel syndrome. (81169)
1978
45
Meckel syndrome and the prenatal diagnosis of neural tube defects. (745218)
1978
46
A casuistic report on the Gruber or Meckel syndrome. (914285)
1977
47
Prenatal diagnosis of the Meckel syndrome: use of serial ultrasound and alpha-fetoprotein measurements. (72573)
1977
48
The renal lesion in syndromes of multiple congenital malformations. Cerebrohepatorenal syndrome; Jeune asphyxiating thoracic dystrophy; tuberous sclerosis; Meckel syndrome. (4470905)
1974
49
Relatively high prevalence of the Meckel syndrome among Jews. (4775123)
1973
50
Encephalocele, polycystic kidneys, and polydactyly as an autosomal recessive trait simulating certain other disorders: the Meckel syndrome. (4997715)
1971

Genetic Variations for Meckel Syndrome

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Expression for genes affiliated with Meckel Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Meckel Syndrome

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Pathways for genes affiliated with Meckel Syndrome

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Compounds for genes affiliated with Meckel Syndrome

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GO Terms for genes affiliated with Meckel Syndrome

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16Gene Ontology
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Cellular components related to Meckel Syndrome according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1photoreceptor connecting ciliumGO:0323919.9CEP290, TTC8
2ciliary transition zoneGO:0358699.7B9D1, CC2D2A
3cilium axonemeGO:0350859.6RPGRIP1L, B9D2, B9D1, ARL6
4ciliumGO:0059299.6RPGRIP1L, NPHP3, TTC8, TMEM216
5motile ciliumGO:0315149.2BBS2, MKKS, SEPT4
6TCTN-B9D complexGO:0360389.0TMEM216, TCTN2, MKS1, B9D1, B9D2, CC2D2A
7BBSomeGO:0344648.7TTC8, ARL6, BBS2, BBS5, BBS1, BBS7
8cilium membraneGO:0601708.5BBS7, BBS1, BBS5, BBS2, ARL6, TTC8
9centrosomeGO:0058138.4BBS7, RPGRIP1L, B9D2, B9D1, MKS1, MKKS
10microtubule basal bodyGO:0059327.6CEP290, TMEM67, TMEM216, TCTN2, TTC8, MKS1
11cytoplasmGO:0057377.2BBS7, BBS1, BBS5, BBS2, RPGRIP1L, CC2D2A

Biological processes related to Meckel Syndrome according to GeneCards/GeneDecks:

(show all 30)
idNameGO IDScoreTop Affiliating Genes
1regulation of cAMP metabolic processGO:03081410.4CEP290, NPHP3
2convergent extension involved in gastrulationGO:06002710.3NPHP3, MKKS
3establishment or maintenance of cell polarityGO:00716310.2CEP290, NPHP3, RPGRIP1L
4negative regulation of appetite by leptin-mediated signaling pathwayGO:03810810.2BBS2, MKKS
5regulation of cilium beat frequency involved in ciliary motilityGO:06029610.2BBS2, MKKS
6olfactory bulb developmentGO:02177210.2RPGRIP1L, TTC8
7artery smooth muscle contractionGO:01482410.2BBS2, MKKS
8striatum developmentGO:02175610.1MKKS, BBS2
9brain morphogenesisGO:04885410.1MKKS, BBS2
10pigment granule aggregation in cell centerGO:05187710.1BBS7, MKKS
11vasodilationGO:04231110.1MKKS, BBS2
12nonmotile primary cilium assemblyGO:03505810.0MKKS, BBS1
13hindbrain developmentGO:03090210.0CEP290, SHH
14branching morphogenesis of an epithelial tubeGO:0487549.9MKS1, SHH
15Golgi to plasma membrane protein transportGO:0430019.9BBS1, BBS2
16camera-type eye developmentGO:0430109.9SHH, B9D1, RPGRIP1L
17positive regulation of multicellular organism growthGO:0400189.9BBS2, MKKS
18cerebral cortex developmentGO:0219879.9MKKS, BBS2
19embryonic hindlimb morphogenesisGO:0351169.9SHH, RPGRIP1L
20embryonic forelimb morphogenesisGO:0351159.7SHH, RPGRIP1L
21photoreceptor cell maintenanceGO:0454949.7BBS1, BBS2, NPHP3, MKKS
22hippocampus developmentGO:0217669.6MKKS, BBS2
23determination of left/right symmetryGO:0073689.5MKKS, ARL6, NPHP3, RPGRIP1L, BBS7
24smoothened signaling pathwayGO:0072249.4BBS7, CC2D2A, B9D1, SHH, TCTN2
25fat cell differentiationGO:0454449.3BBS7, BBS2, ARL6, MKKS, TTC8
26melanosome transportGO:0324029.3BBS7, BBS5, BBS2, ARL6, MKKS
27heart loopingGO:0019479.2BBS7, BBS5, NPHP3, SHH, MKKS
28visual perceptionGO:0076018.9BBS7, BBS1, BBS5, BBS2, ARL6, MKKS
29cilium morphogenesisGO:0602718.3CEP290, TMEM67, TMEM216, TCTN2, MKKS, MKS1
30cilium assemblyGO:0423847.3CEP290, BBS1, BBS5, TMEM67, TMEM216, TCTN2

Molecular functions related to Meckel Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1patched bindingGO:0051139.6SHH, BBS1
2protein bindingGO:0055155.6CEP290, BBS7, BBS1, BBS5, BBS2, RPGRIP1L

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