MKS
MCID: MCK006
MIFTS: 55

Meckel Syndrome (MKS) malady

Genetic diseases, Rare diseases, Immune diseases, Neuronal diseases, Nephrological diseases, Fetal diseases, Endocrine diseases, Eye diseases, Bone diseases categories
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Summaries for Meckel Syndrome

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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 based summary: Meckel Syndrome, also known as meckel gruber syndrome, is related to polydactyly and bardet-biedl syndrome. An important gene associated with Meckel Syndrome is CEP290 (centrosomal protein 290kDa). Affiliated tissues include kidney, liver and brain, and related mouse phenotypes are respiratory system and digestive/alimentary.

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:65 Meckel syndrome (also known as Meckel?Gruber Syndrome, Gruber Syndrome, Dysencephalia Splanchnocystica)... more...

Descriptions from OMIM:46 267010, 613885, 607361, 615397, 603194 611561, 614175, 249000, 614209, 611134, 612284 more

Aliases & Classifications for Meckel Syndrome

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Meckel Syndrome, Aliases & Descriptions:

Name: 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


Classifications:



External Ids:

Disease Ontology8 DOID:0050778
ICD9CM27 753.10

Related Diseases for Meckel Syndrome

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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 67)
idRelated DiseaseScoreTop Affiliating Genes
1polydactyly30.0CC2D2A, CEP290, TMEM67, MKS1
2bardet-biedl syndrome29.9CEP290, MKS1
3joubert syndrome29.8RPGRIP1L, CC2D2A, CEP290, TMEM67
4meckel syndrome 110.4
5meckel syndrome type 210.4
6meckel syndrome type 310.4
7meckel syndrome 710.3
8microcytic anemia10.3
9hypoplastic left heart syndrome10.3
10renal agenesis10.3
11meningocele10.3
12dwarfism10.3
13cor triatriatum10.3
14heterotaxy10.3
15nephronophthisis 1, juvenile10.3
16meckel syndrome 910.3
17hiatus hernia10.3
18bardet-biedl syndrome 1410.2CEP290
19neural tube defects10.2
20encephalocele10.2
21meckel syndrome 410.2
22meckel syndrome 810.2
23menkes disease10.2
24hepatitis10.1
25smith-lemli-opitz syndrome10.1
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
31cc2d2a-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
40leukemia10.1
41mckusick-kaufman syndrome10.1
42seckel syndrome10.0TMEM67, CEP290
43fundus dystrophy10.0CC2D2A, CEP290
44choledochal cyst10.0
45tuberous sclerosis10.0
46caroli disease10.0
47mulibrey nanism10.0
48asphyxiating thoracic dystrophy10.0
49cerebellar hypoplasia10.0
50colorectal cancer10.0

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



Diseases related to meckel syndrome

Symptoms for Meckel Syndrome

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Clinical features from OMIM:

267010, 613885, 607361, 615397, 603194, 611561, 614175, 249000, 614209, 611134 612284 more

Drugs & Therapeutics for Meckel Syndrome

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Drug clinical trials:

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Genetic Tests for Meckel Syndrome

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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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MalaCards organs/tissues related to Meckel Syndrome:

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

Animal Models for Meckel Syndrome or affiliated genes

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Publications for Meckel Syndrome

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Articles related to Meckel Syndrome:

(show top 50)    (show all 101)
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
Meckelin 3 is necessary for photoreceptor outer segment development in rat Meckel syndrome. (23516626)
2013
4
Disruption of a ciliary B9 protein complex causes Meckel syndrome. (21763481)
2011
5
Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3. (19515853)
2009
6
Meckel syndrome in the Hutterite population is actually a Joubert-related cerebello-oculo-renal syndrome. (17603801)
2007
7
Meckel syndrome: genetics, perinatal findings, and differential diagnosis. (17389183)
2007
8
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. (17558409)
2007
9
Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online. (17397051)
2007
10
Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. (17564974)
2007
11
The beat goes on: ciliary proteins are defective in Meckel syndrome. (16650076)
2006
12
MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome. (16415886)
2006
13
Comparative physical maps of the human and mouse Meckel syndrome critical regions. (15112103)
2004
14
Study of the malformation of ductal plate of the liver in Meckel syndrome and review of other syndromes presenting with this anomaly. (11000335)
2000
15
Prenatal diagnosis of Meckel syndrome: a case report. (10533329)
1999
16
Malformations of cranial base structures and pituitary gland in prenatal Meckel syndrome. (10549591)
1999
17
Skeletal malformations in fetuses with Meckel syndrome. (10360401)
1999
18
Skeletal abnormalities in Meckel syndrome. (9211556)
1997
19
Exclusion of the p75 neurotrophin receptor gene as a candidate gene for Meckel syndrome. (9220190)
1997
20
Genetic heterogeneity of Meckel syndrome. (9429143)
1997
21
Associated malformations in the family of a patient with Meckel syndrome: heterozygous expression? (9391891)
1997
22
The Meckel syndrome: report of two Japanese sibs and a review of literature. (8725749)
1996
23
Dandy-Walker malformation in the Meckel syndrome. (7702098)
1995
24
Polydactyly in a carrier of the gene for the Meckel syndrome. (7856653)
1994
25
Prenatal diagnosis of recurrent Meckel syndrome. (1361467)
1992
26
Early prenatal diagnosis of Meckel syndrome--a case report. (2176925)
1990
27
Meckel syndrome in twins. (2609437)
1989
28
Encephalocele, polycystic kidneys, and polydactyly with other defects. A necropsy case of Meckel syndrome and a review of literature. (3604681)
1987
29
Prenatal early sonographic diagnosis of Meckel syndrome. (3316120)
1987
30
Pathology of renal and hepatic anomalies in Meckel syndrome. (3130875)
1987
31
Visceral anomalies in the Meckel syndrome. (3992488)
1985
32
Prenatal diagnosis of Meckel syndrome: case reports and literature review. (6207728)
1984
33
Cerebellocele and associated central nervous system anomalies in the Meckel syndrome. (6723431)
1984
34
Roentgenologic features of the Meckel syndrome. (6646886)
1983
35
Survival and spectrum of anomalies in the Meckel syndrome. (6859092)
1983
36
Gross anatomical studies of a newborn with the Meckel syndrome. (6648819)
1983
37
The Meckel Syndrome. Pathological and cytogenetic observations in eight cases. (6132872)
1982
38
Association of Meckel syndrome with M-anisosplenia in one patient. (7151299)
1982
39
Phenotypic variation in Meckel syndrome. (7296953)
1981
40
Prenatal diagnosis of polycystic kidneys and encephalocele (Meckel syndrome). (84722)
1979
41
Prenatal diagnosis of the Meckel syndrome. (83212)
1979
42
Prenatal diagnosis of Meckel syndrome. (81169)
1978
43
Meckel syndrome and the prenatal diagnosis of neural tube defects. (745218)
1978
44
A casuistic report on the Gruber or Meckel syndrome. (914285)
1977
45
Case for diagnosis. Meckel syndrome (Gruber syndrome, dysencephalia splanchnocystica). (411060)
1977
46
Prenatal diagnosis of a neural tube defect: Meckel syndrome. (47393)
1975
47
Chromosomal abnormality (46,XX,3p plus) in a case of the Meckel syndrome. (4142400)
1974
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

Variations for Meckel Syndrome

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Clinvar genetic disease variations for Meckel Syndrome:

6
id Gene Name Type Significance SNP ID Assembly Location
1CEP290NM_025114.3(CEP290): c.5668G> T (p.Gly1890Ter)single nucleotide variantPathogenicrs137852832GRCh37Chr 12, 88471040: 88471040

Expression for genes affiliated with Meckel Syndrome

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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:

idNameGO IDScoreTop Affiliating Genes
1ciliary basal bodyGO:0360649.0MKS1, RPGRIP1L
2ciliumGO:0059298.9NPHP3, RPGRIP1L
3centrosomeGO:0058138.4MKS1, TMEM67, CEP290, RPGRIP1L
4TCTN-B9D complexGO:0360388.1CC2D2A, CEP290, TCTN2, TMEM67, MKS1
5cytoplasmGO:0057377.6RPGRIP1L, CC2D2A, CEP290, TCTN2, MKS1

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1regulation of cAMP metabolic processGO:0308149.6CEP290, NPHP3
2kidney developmentGO:0018229.2NPHP3, RPGRIP1L
3determination of left/right symmetryGO:0073689.1NPHP3, RPGRIP1L
4smoothened signaling pathwayGO:0072249.0CC2D2A, TCTN2
5establishment or maintenance of cell polarityGO:0071638.9NPHP3, RPGRIP1L, CEP290
6cilium morphogenesisGO:0602717.7NPHP3, CC2D2A, CEP290, TCTN2, TMEM67, MKS1
7cilium assemblyGO:0423847.3MKS1, TMEM67, TCTN2, CEP290, CC2D2A, RPGRIP1L

Products for genes affiliated with Meckel Syndrome

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Sources for Meckel Syndrome

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3CDC
13ExPASy
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22GTR
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24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
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47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet