MKS
MCID: MCK006
MIFTS: 50

Meckel Syndrome (MKS) malady

Immune category

Summaries for Meckel Syndrome

Sources:
8Disease Ontology, 43NIH Rare Diseases, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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 brain, heart and kidney, 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:64 Meckel syndrome (also known as Meckel–Gruber Syndrome, Gruber Syndrome, Dysencephalia... more...

Description from OMIM:47 249000

Aliases & Classifications for Meckel Syndrome

Sources:
8Disease Ontology, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM
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Classifications:

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


Aliases & Descriptions:

meckel syndrome 8 43 20 21
meckel gruber syndrome 43 22
meckel-gruber syndrome 8 21
mks 43 21
dysencephalia splanchnocystica 21
dysencephalia splachnocystica 43
gruber syndrome 43


External Ids:

Disease Ontology8 DOID:0050778
OMIM47 249000

Related Diseases for Meckel Syndrome

Sources:
17GeneCards, 18GeneDecks
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Diseases in the meckel syndrome 1 family:

meckel syndrome meckel syndrome type 2
meckel syndrome type 3 b9d1-related meckel syndrome
b9d2-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 76)
idRelated DiseaseScoreTop Affiliating Genes
1polydactyly30.3ARL6, SHH, MKS1, MKKS, TTC8, TMEM216
2meckel syndrome 430.3LCA10, CEP290
3joubert syndrome30.3CEP290, TMEM67, CC2D2A, RPGRIP1L
4mckusick-kaufman syndrome30.1MKKS
5asphyxiating thoracic dystrophy29.9CC2D2A
6bardet-biedl syndrome29.9MKKS
7meckel syndrome 110.5
8n syndrome10.5
9meckel syndrome type 210.3
10meckel syndrome type 310.3
11meckel syndrome 710.3
12renal agenesis10.3
13meningocele10.3
14hypoplastic left heart syndrome10.3
15dwarfism10.3
16short syndrome10.3
17nephronophthisis 1, juvenile10.3
18dandy-walker syndrome10.3
19kid syndrome10.3
20meckel syndrome 910.3
21menkes disease10.2
22encephalocele10.2
23mks1-related meckel syndrome10.2
24cc2d2a-related meckel syndrome10.2
25meckel syndrome 810.2
26smith-lemli-opitz syndrome10.1
27neural tube defects10.1
28tmem216-related meckel syndrome10.1
29tmem67-related meckel syndrome10.1
30cep290-related meckel syndrome10.1
31rpgrip1l-related meckel syndrome10.1
32nphp3-related meckel syndrome10.1
33b9d1-related meckel syndrome10.1
34b9d2-related meckel syndrome10.1
35tctn2-related meckel syndrome10.1
36meckel syndrome 610.1
37meckel syndrome 510.1
38meckel syndrome, type 1110.1
39meckel syndrome 1010.1
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

Sources:
47OMIM
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Clinical features from OMIM:

249000

Drugs & Therapeutics for Meckel Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Meckel Syndrome

Drug clinical trials:

Search ClinicalTrials for Meckel Syndrome

Search NIH Clinical Center for Meckel Syndrome

Search CenterWatch for Meckel Syndrome

Genetic Tests for Meckel Syndrome

Sources:
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

Sources:
33MalaCards
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MalaCards organs/tissues related to Meckel Syndrome:

33
Brain, Heart, Kidney, Liver, Lung, Fetal brain, Fetal liver, Pituitary

Animal Models for Meckel Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Meckel Syndrome

Sources:
51PubMed
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Articles related to Meckel Syndrome:

(show top 50)    (show all 125)
idTitleAuthorsYear
1
12q21 Microdeletion in a fetus with Meckel syndrome involving CEP290/MKS4. (23954617)
2013
2
The Meckel syndrome protein meckelin (TMEM67) is a key regulator of cilia function but is not required for tissue planar polarity. (23393159)
2013
3
Analysis of human samples reveals impaired SHH-dependent cerebellar development in Joubert syndrome/Meckel syndrome. (23027964)
2012
4
Acceleration of the meckel syndrome by near-infrared light therapy. (22470396)
2011
5
B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis. (21493627)
2011
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
Meckel syndrome in the Hutterite population is actually a Joubert-related cerebello-oculo-renal syndrome. (17603801)
2007
9
Meckel syndrome: genetics, perinatal findings, and differential diagnosis. (17389183)
2007
10
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
11
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. (17558409)
2007
12
Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3. (17377820)
2007
13
The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat. (16415887)
2006
14
Prenatal diagnosis of Meckel Gruber syndrome presenting with renal agenesis: report of a case. (16719279)
2006
15
The beat goes on: ciliary proteins are defective in Meckel syndrome. (16650076)
2006
16
MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome. (16415886)
2006
17
Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome. (15666242)
2005
18
High-resolution physical and genetic mapping of the critical region for Meckel syndrome and Mulibrey Nanism on chromosome 17q22-q23. (10077533)
1999
19
Meckel syndrome. (9643292)
1998
20
Clinical and genetic heterogeneity in Meckel syndrome. (9385376)
1997
21
Meckel syndrome and Dandy Walker malformation. (8867663)
1996
22
Cerebro-reno-digital (Meckel-like) syndrome with Dandy-Walker malformation, cystic kidneys, hepatic fibrosis, and polydactyly. (8368252)
1993
23
Meckel syndrome: prenatal ultrasonographic diagnosis in two cases showing marked differences in phenotypic expression. (1632751)
1992
24
Dandy-Walker malformation in the Meckel syndrome. (2063927)
1991
25
Fetal diagnosis of the Meckel syndrome. (1879912)
1991
26
Early prenatal diagnosis of Meckel syndrome--a case report. (2176925)
1990
27
Meckel syndrome in twins. (2609437)
1989
28
Meckel syndrome with polysplenia: case report and review of the literature. (3068988)
1988
29
The Meckel syndrome in an Irish population: a post mortem study. (3248931)
1988
30
Encephalocele, polycystic kidneys, and polydactyly with other defects. A necropsy case of Meckel syndrome and a review of literature. (3604681)
1987
31
Prenatal early sonographic diagnosis of Meckel syndrome. (3316120)
1987
32
Brain pathology in the Meckel syndrome: a study of 59 cases. (3995807)
1985
33
The Meckel syndrome: clinicopathological findings in 67 patients. (6486167)
1984
34
Roentgenologic features of the Meckel syndrome. (6646886)
1983
35
Gross anatomical studies of a newborn with the Meckel syndrome. (6648819)
1983
36
The Meckel Syndrome. Pathological and cytogenetic observations in eight cases. (6132872)
1982
37
Ultrasonographic parameters in the prenatal diagnosis of Meckel syndrome. (7465155)
1981
38
Prenatal diagnosis of Meckel syndrome. (7327716)
1981
39
Prenatal diagnosis of the Meckel syndrome. (6165942)
1981
40
Oligohydramnios hampering prenatal diagnosis of Meckel syndrome. (7211955)
1980
41
Prenatal diagnosis of Meckel syndrome. (7205201)
1980
42
Prenatal diagnosis of polycystic kidneys and encephalocele (Meckel syndrome). (84722)
1979
43
Prenatal diagnosis of Meckel syndrome. (81169)
1978
44
Meckel syndrome and the prenatal diagnosis of neural tube defects. (745218)
1978
45
A casuistic report on the Gruber or Meckel syndrome. (914285)
1977
46
Prenatal diagnosis of the Meckel syndrome: use of serial ultrasound and alpha-fetoprotein measurements. (72573)
1977
47
The renal lesion in syndromes of multiple congenital malformations. Cerebrohepatorenal syndrome; Jeune asphyxiating thoracic dystrophy; tuberous sclerosis; Meckel syndrome. (4470905)
1974
48
The Meckel syndrome with limited expression in relatives. (4632429)
1973
49
Genetics of the Meckel syndrome (dysencephalia splanchnocystica). (4997860)
1971
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

Expression for genes affiliated with Meckel Syndrome

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

Search GEO for disease gene expression data for Meckel Syndrome.

Pathways for genes affiliated with Meckel Syndrome

Compounds for genes affiliated with Meckel Syndrome

GO Terms for genes affiliated with Meckel Syndrome

Sources:
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:0358699.7CC2D2A, B9D1
3cilium axonemeGO:0350859.6ARL6, B9D1, B9D2, RPGRIP1L
4ciliumGO:0059299.6RPGRIP1L, NPHP3, TTC8, TMEM216
5motile ciliumGO:0315149.2BBS2, MKKS, SEPT4
6TCTN-B9D complexGO:0360389.0CC2D2A, B9D1, MKS1, TCTN2, TMEM216, TMEM67
7BBSomeGO:0344648.7BBS2, ARL6, TTC8, BBS5, BBS1, BBS7
8cilium membraneGO:0601708.5BBS7, BBS5, BBS2, ARL6, TTC8, TMEM67
9centrosomeGO:0058138.4MKKS, MKS1, CEP290, TMEM67, TTC8, B9D1
10microtubule basal bodyGO:0059327.6B9D2, BBS5, BBS2, CC2D2A, CEP290, TMEM67
11cytoplasmGO:0057377.2CEP290, BBS2, CC2D2A, ARL6, MKS1, TTC8

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

(show all 30)
idNameGO IDScoreTop Affiliating Genes
1regulation of cAMP metabolic processGO:03081410.4NPHP3, CEP290
2convergent extension involved in gastrulationGO:06002710.3MKKS, NPHP3
3establishment or maintenance of cell polarityGO:00716310.2RPGRIP1L, NPHP3, CEP290
4negative regulation of appetite by leptin-mediated signaling pathwayGO:03810810.2MKKS, BBS2
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:02175610.1BBS2, MKKS
9pigment granule aggregation in cell centerGO:05187710.1MKKS, BBS7
10brain morphogenesisGO:04885410.1BBS2, MKKS
11vasodilationGO:04231110.1MKKS, BBS2
12nonmotile primary cilium assemblyGO:03505810.0BBS1, MKKS
13hindbrain developmentGO:03090210.0SHH, CEP290
14branching morphogenesis of an epithelial tubeGO:0487549.9SHH, MKS1
15Golgi to plasma membrane protein transportGO:0430019.9BBS2, BBS1
16camera-type eye developmentGO:0430109.9RPGRIP1L, SHH, B9D1
17positive regulation of multicellular organism growthGO:0400189.9MKKS, BBS2
18hippocampus developmentGO:0217669.9BBS2, MKKS
19embryonic hindlimb morphogenesisGO:0351169.9RPGRIP1L, SHH
20embryonic forelimb morphogenesisGO:0351159.7RPGRIP1L, SHH
21photoreceptor cell maintenanceGO:0454949.7MKKS, BBS1, BBS2, NPHP3
22cerebral cortex developmentGO:0219879.6BBS2, MKKS
23determination of left/right symmetryGO:0073689.5BBS7, RPGRIP1L, NPHP3, ARL6, MKKS
24smoothened signaling pathwayGO:0072249.4BBS7, CC2D2A, B9D1, SHH, TCTN2
25fat cell differentiationGO:0454449.3BBS7, TTC8, MKKS, ARL6, BBS2
26melanosome transportGO:0324029.3BBS7, BBS5, BBS2, MKKS, ARL6
27heart loopingGO:0019479.2MKKS, SHH, NPHP3, BBS5, BBS7
28visual perceptionGO:0076018.9BBS5, BBS7, BBS2, MKKS, BBS1, ARL6
29cilium morphogenesisGO:0602718.3BBS7, BBS2, CC2D2A, B9D1, NPHP3, MKS1
30cilium assemblyGO:0423847.3BBS5, TMEM216, CEP290, TMEM67, RPGRIP1L, B9D2

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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Sources for Meckel Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet