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
Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel-Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defects. (23283079)
2013
2
Acceleration of the meckel syndrome by near-infrared light therapy. (22470396)
2011
3
Clinical utility gene card for: Meckel syndrome. (21368913)
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
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. (20512146)
2010
6
Meckel-Gruber syndrome protein MKS3 is required for endoplasmic reticulum-associated degradation of surfactant protein C. (19815549)
2009
7
CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype- phenotype correlation. (19777577)
2009
8
Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3. (19515853)
2009
9
A mouse model for Meckel syndrome reveals Mks1 is required for ciliogenesis and Hedgehog signaling. (19776033)
2009
10
Meckel syndrome in the Hutterite population is actually a Joubert-related cerebello-oculo-renal syndrome. (17603801)
2007
11
The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. (17160906)
2007
12
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
13
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. (17558409)
2007
14
Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. (17564974)
2007
15
Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3. (17377820)
2007
16
The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat. (16415887)
2006
17
Comparative physical maps of the human and mouse Meckel syndrome critical regions. (15112103)
2004
18
A novel locus for Meckel-Gruber syndrome, MKS3, maps to chromosome 8q24. (12384791)
2002
19
Study of the malformation of ductal plate of the liver in Meckel syndrome and review of other syndromes presenting with this anomaly. (11000335)
2000
20
Contribution of apoptosis and apoptosis-related proteins to the malformation of the primitive intrahepatic biliary system in Meckel syndrome. (10793071)
2000
21
Malformations of cranial base structures and pituitary gland in prenatal Meckel syndrome. (10549591)
1999
22
Characterization of a novel gene, PNUTL2, on human chromosome 17q22- q23 and its exclusion as the Meckel syndrome gene. (9889007)
1999
23
High-resolution physical and genetic mapping of the critical region for Meckel syndrome and Mulibrey Nanism on chromosome 17q22-q23. (10077533)
1999
24
Meckel syndrome. (9643292)
1998
25
A gene for Meckel syndrome maps to chromosome 11q13. (9758620)
1998
26
Skeletal abnormalities in Meckel syndrome. (9211556)
1997
27
Dandy-Walker malformation in the Meckel syndrome. (7702098)
1995
28
Polydactyly in a carrier of the gene for the Meckel syndrome. (7856653)
1994
29
Dandy-Walker malformation in the Meckel syndrome. (2063927)
1991
30
Dandy-Walker malformation (variant), cystic dysplastic kidneys, and hepatic fibrosis: a distinct entity or Meckel syndrome? (1867280)
1991
31
Meckel syndrome in twins. (2609437)
1989
32
Meckel syndrome with polysplenia: case report and review of the literature. (3068988)
1988
33
The Meckel syndrome in an Irish population: a post mortem study. (3248931)
1988
34
Pathology of renal and hepatic anomalies in Meckel syndrome. (3130875)
1987
35
Visceral anomalies in the Meckel syndrome. (3992488)
1985
36
Cerebellocele and associated central nervous system anomalies in the Meckel syndrome. (6723431)
1984
37
The Meckel syndrome: clinicopathological findings in 67 patients. (6486167)
1984
38
Survival and spectrum of anomalies in the Meckel syndrome. (6859092)
1983
39
Are bowing of long tubular bones and preaxial polydactyly signs of the Meckel syndrome? (6654326)
1983
40
Ultrasonographic parameters in the prenatal diagnosis of Meckel syndrome. (7465155)
1981
41
Prenatal diagnosis of Meckel syndrome. (7327716)
1981
42
Oligohydramnios hampering prenatal diagnosis of Meckel syndrome. (7211955)
1980
43
Prenatal diagnosis of Meckel syndrome. (7205201)
1980
44
Case for diagnosis. Meckel syndrome (Gruber syndrome, dysencephalia splanchnocystica). (411060)
1977
45
Prenatal diagnosis of the Meckel syndrome. (72504)
1977
46
Chromosomal abnormality (46,XX,3p plus) in a case of the Meckel syndrome. (4142400)
1974
47
The Meckel syndrome. (4839586)
1974
48
The Meckel syndrome with limited expression in relatives. (4632429)
1973
49
Ocular manifestations of the Meckel syndrome. (4626079)
1972
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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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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