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, 22GTR, 21Genetics Home Reference, 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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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
The Meckel syndrome protein meckelin (TMEM67) is a key regulator of cilia function but is not required for tissue planar polarity. (23393159)
2013
2
Meckelin 3 is necessary for photoreceptor outer segment development in rat Meckel syndrome. (23516626)
2013
3
Disruption of a ciliary B9 protein complex causes Meckel syndrome. (21763481)
2011
4
A TCTN2 mutation defines a novel Meckel Gruber syndrome locus. (21462283)
2011
5
Meckel syndrome with Caroli disease and choledochal cysts. (21843058)
2011
6
Differential expression of renal proteins in a rodent model of Meckel syndrome. (20693816)
2011
7
Combination of cor triatriatum sinistrum and hypoplastic left heart syndrome in Meckel-Gruber syndrome: a case report. (19358626)
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 type 3. (19211713)
2009
10
Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins. (19208769)
2009
11
Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups? (19466712)
2009
12
Lack of cilia and differentiation defects in the liver of human foetuses with the Meckel syndrome. (17976156)
2008
13
Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic- pancreatic dysplasia. (18371931)
2008
14
Meckel syndrome: genetics, perinatal findings, and differential diagnosis. (17389183)
2007
15
Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online. (17397051)
2007
16
The Meckel-Gruber syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation. (17185389)
2007
17
Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome. (17437276)
2007
18
MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome. (16415886)
2006
19
Meckel-Gruber syndrome in association with an occipital meningocele. (16902350)
2006
20
Comparative physical maps of the human and mouse Meckel syndrome critical regions. (15112103)
2004
21
Prenatal diagnosis of Meckel syndrome: a case report. (10533329)
1999
22
Skeletal malformations in fetuses with Meckel syndrome. (10360401)
1999
23
Exclusion of the p75 neurotrophin receptor gene as a candidate gene for Meckel syndrome. (9220190)
1997
24
Genetic heterogeneity of Meckel syndrome. (9429143)
1997
25
Associated malformations in the family of a patient with Meckel syndrome: heterozygous expression? (9391891)
1997
26
The Meckel syndrome: report of two Japanese sibs and a review of literature. (8725749)
1996
27
The locus for Meckel syndrome with multiple congenital anomalies maps to chromosome 17q21-q24. (7550354)
1995
28
Meckel syndrome: what are the minimum diagnostic criteria? (8071976)
1994
29
Survival in an infant with a prenatally diagnosed Meckel syndrome variant. (8476485)
1993
30
Prenatal diagnosis of recurrent Meckel syndrome. (1361467)
1992
31
Meckel syndrome and neural tube defects in Kuwait. (1613765)
1992
32
Doppler velocity waveforms of blood flow in the fetal renal artery in a case of Meckel syndrome. (1898833)
1991
33
Prenatal early sonographic diagnosis of Meckel syndrome. (3316120)
1987
34
Prenatal diagnosis of Meckel syndrome: case reports and literature review. (6207728)
1984
35
The Meckel syndrome in Finland: epidemiologic and genetic aspects. (6486168)
1984
36
Gross anatomical studies of a newborn infant with the Meckel syndrome. (6486165)
1984
37
Meckel syndrome in different populations. (6486166)
1984
38
Survival and spectrum of anomalies in the Meckel syndrome. (6859092)
1983
39
Editorial comment: variability in the Smith-Lemli-Opitz syndrome: overlap with the Meckel syndrome. (6859094)
1983
40
The Meckel Syndrome. Pathological and cytogenetic observations in eight cases. (6132872)
1982
41
Association of Meckel syndrome with M-anisosplenia in one patient. (7151299)
1982
42
Meckel syndrome: morphologic considerations. (7139095)
1982
43
Phenotypic variation in Meckel syndrome. (7296953)
1981
44
Spectrum of anomalies in the Meckel syndrome, or: "Maybe there is a malformation syndrome with at least one constant anomaly". (7246621)
1981
45
Prenatal diagnosis of the Meckel syndrome. (83212)
1979
46
Prenatal diagnosis of Meckel syndrome: alpha-feto protein and beta-trace protein in amniotic fluid. (66999)
1977
47
Prenatal diagnosis of a neural tube defect: Meckel syndrome. (47393)
1975
48
The renal lesion in syndromes of multiple congenital malformations. Cerebrohepatorenal syndrome; Jeune asphyxiating thoracic dystrophy; tuberous sclerosis; Meckel syndrome. (4470905)
1974
49
Ocular manifestations of the Meckel syndrome. (4626079)
1972
50
Genetics of the Meckel syndrome (dysencephalia splanchnocystica). (4997860)
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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