Meckel Syndrome 1 malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Nephrological diseases, Bone diseases, Fetal diseases, Immune diseases, Endocrine diseases

Aliases & Classifications for Meckel Syndrome 1

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Aliases & Descriptions for Meckel Syndrome 1:

Name: Meckel Syndrome 1 50 68 25 12
Meckel Syndrome 11 46 23 24 13 52 25
Meckel-Gruber Syndrome 11 24 52 68 66
Dysencephalia Splanchnocystica 24 68
Meckel Gruber Syndrome 46 25
Gruber Syndrome 46 68
Mks 46 24
Dysencephalia Splachnocystica 46
Meckel Syndrome Type 1 66
Mks1 68
Mes 68


Orphanet epidemiological data:

meckel syndrome:
Inheritance: Autosomal recessive; Prevalence: 1-5/10000 (Finland),1-9/100000 (Worldwide),<1/1000000 (Worldwide),1-9/100000 (Europe); Age of onset: Antenatal; Age of death: embryofetal,infantile,stillbirth


meckel syndrome 1:
Inheritance: autosomal recessive inheritance


External Ids:

OMIM50 249000
Disease Ontology11 DOID:0050778
ICD9CM30 753.1, 753.10
Orphanet52 ORPHA564
UMLS via Orphanet67 C0265215
ICD10 via Orphanet29 Q61.9

Summaries for Meckel Syndrome 1

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OMIM:50 Meckel syndrome, also known as Meckel-Gruber syndrome, is a severe pleiotropic autosomal recessive developmental... (249000) more...

MalaCards based summary: Meckel Syndrome 1, also known as meckel syndrome, is related to meckel syndrome 7 and meckel syndrome 3, and has symptoms including multicystic kidney dysplasia, microcephaly and postaxial hand polydactyly. An important gene associated with Meckel Syndrome 1 is MKS1 (Meckel Syndrome, Type 1), and among its related pathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. Affiliated tissues include kidney, liver and brain, and related mouse phenotypes are craniofacial and liver/biliary system.

Disease Ontology:11 A ciliopathy that is characterized by renal cystic dysplasia, occipital encephalocele, polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia.

Genetics Home Reference:24 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.

NIH Rare Diseases:46 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

UniProtKB/Swiss-Prot:68 Meckel syndrome 1: A disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly.

Wikipedia:69 Meckel syndrome, type 1 also known as MKS1 is a protein that in humans is encoded by the MKS1 gene. more...

Related Diseases for Meckel Syndrome 1

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Diseases in the Meckel Syndrome 1 family:

Meckel Syndrome 12 Meckel Syndrome 7
Meckel Syndrome 6 Meckel Syndrome 3
Meckel Syndrome 2 Meckel Syndrome 4
Meckel Syndrome 8 Meckel Syndrome 5
Meckel Syndrome 11 Meckel Syndrome 9
Meckel Syndrome 10 Kif14-Related Meckel Syndrome
Tmem231-Related Meckel Syndrome B9d1-Related Meckel Syndrome
B9d2-Related Meckel Syndrome Cc2d2a-Related Meckel Syndrome
Cep290-Related Meckel Syndrome Mks1-Related Meckel Syndrome
Nphp3-Related Meckel Syndrome Rpgrip1l-Related Meckel Syndrome
Tctn2-Related Meckel Syndrome Tmem216-Related Meckel Syndrome
Tmem67-Related Meckel Syndrome

Diseases related to Meckel Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 60)
idRelated DiseaseScoreTop Affiliating Genes
1meckel syndrome 712.1
2meckel syndrome 312.1
3meckel syndrome 212.1
4meckel syndrome 412.0
5meckel syndrome 1212.0
6meckel syndrome 612.0
7meckel syndrome 512.0
8meckel syndrome 912.0
9meckel syndrome 812.0
10meckel syndrome 1012.0
11meckel syndrome 1112.0
12tctn2-related meckel syndrome11.9
13tmem231-related meckel syndrome11.9
14b9d1-related meckel syndrome11.9
15b9d2-related meckel syndrome11.9
16kif14-related meckel syndrome11.8
17cc2d2a-related meckel syndrome11.8
18cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome11.8
19cep290-related meckel syndrome11.8
20mks1-related meckel syndrome11.8
21nphp3-related meckel syndrome11.8
22rpgrip1l-related meckel syndrome11.8
23tmem216-related meckel syndrome11.8
24tmem67-related meckel syndrome11.8
25mckusick-kaufman syndrome10.8
26malignant spiradenoma10.8
27isobutyryl-coa dehydrogenase deficiency10.8MKS1, TMEM216, TMEM67
28huntington disease-like 310.8CC2D2A, RPGRIP1L, TMEM67
29jeune syndrome situs inversus10.7NPHP1, RPGRIP1L
30corneal dystrophy, congenital stromal10.7CEP290, TMEM67
31nephronophthisis 410.7NPHP1, NPHP4, TMEM67
32acrofacial dysostosis10.6ARL13B, RPGRIP1L, TMEM216, TMEM231
33hepatopulmonary syndrome10.6PKHD1, TMEM67
34creatine deficiency syndromes10.6B9D2, CC2D2A, PKHD1, RPGRIP1L, TMEM67
35taeniasis10.6ARL13B, CSPP1, NPHP4, RPGRIP1L
36fragile x-associated tremor/ataxia syndrome10.6INVS, NPHP1, PKHD1, TMEM67
37chiari malformation10.5CC2D2A, CEP290, NPHP4, TMEM216, TMEM231
38crest syndrome10.5INVS, NPHP1, NPHP4
39glomerulocystic kidney disease with hyperuricemia and isosthenuria10.5NPHP1, NPHP4
40auditory agnosia10.5ARL13B, CC2D2A, NPHP1, TMEM216, TMEM231
41carbohydrate metabolic disorder10.5INVS, NPHP1, NPHP4
42porokeratosis 9, multiple types10.4INVS, NPHP4, RPGRIP1
43smith-lemli-opitz syndrome10.4
44localized scleroderma10.3NPHP4, RPGRIP1, RPGRIP1L
45nephronophthisis 1, juvenile10.3
46telogen effluvium10.2ARL13B, CEP290, MKS1, NPHP1, NPHP4, RPGRIP1L
47third cranial nerve disease10.1CEP290, NPHP1, NPHP4
48cleft tongue10.1B9D1, B9D2, CC2D2A, CEP290, MKS1, RPGRIP1L
49scar contracture10.1CC2D2A, CEP290, INVS, NPHP1, NPHP4, RPGRIP1
50senior-loken syndrome-110.0ARL13B, CC2D2A, CEP290, INVS, MKS1, NPHP1

Graphical network of the top 20 diseases related to Meckel Syndrome 1:

Diseases related to meckel syndrome 1

Symptoms for Meckel Syndrome 1

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Symptoms by clinical synopsis from OMIM:


Clinical features from OMIM:



 52 (show all 45)
  • multicystic kidney dysplasia
  • cryptorchidism
  • male pseudohermaphroditism
  • ambiguous genitalia
  • urethral atresia
  • ureteral duplication
  • cleft palate
  • furrowed tongue
  • hydrocephalus
  • microcephaly
  • full cheeks
  • hypertelorism
  • sloping forehead
  • micrognathia
  • low-set, posteriorly rotated ears
  • depressed nasal ridge
  • microcornea
  • cataract
  • anophthalmia
  • chorioretinal abnormality
  • microphthalmos
  • sclerocornea
  • optic atrophy
  • postaxial hand polydactyly
  • preaxial hand polydactyly
  • dandy-walker malformation
  • oligohydramnios
  • situs inversus totalis
  • pancreatic cysts
  • asplenia
  • accessory spleen
  • postaxial foot polydactyly
  • talipes
  • encephalocele
  • anencephaly
  • malformation of the heart and great vessels
  • congenital hepatic fibrosis
  • bowing of the long bones
  • cystic liver disease
  • lobar holoprosencephaly
  • aplasia/hypoplasia of the corpus callosum
  • aplasia/hypoplasia of the iris
  • aplasia/hypoplasia of the tongue
  • true hermaphroditism
  • pancreatic fibrosis

HPO human phenotypes related to Meckel Syndrome 1:

(show all 98)
id Description Frequency HPO Source Accession
1 multicystic kidney dysplasia hallmark (90%) HP:0000003
2 microcephaly hallmark (90%) HP:0000252
3 postaxial hand polydactyly hallmark (90%) HP:0001162
4 postaxial foot polydactyly hallmark (90%) HP:0001830
5 encephalocele hallmark (90%) HP:0002084
6 congenital hepatic fibrosis hallmark (90%) HP:0002612
7 cryptorchidism typical (50%) HP:0000028
8 cleft palate typical (50%) HP:0000175
9 full cheeks typical (50%) HP:0000293
10 hypertelorism typical (50%) HP:0000316
11 sloping forehead typical (50%) HP:0000340
12 micrognathia typical (50%) HP:0000347
13 low-set, posteriorly rotated ears typical (50%) HP:0000368
14 depressed nasal ridge typical (50%) HP:0000457
15 microcornea typical (50%) HP:0000482
16 cataract typical (50%) HP:0000518
17 chorioretinal abnormality typical (50%) HP:0000532
18 sclerocornea typical (50%) HP:0000647
19 optic atrophy typical (50%) HP:0000648
20 holoprosencephaly typical (50%) HP:0001360
21 oligohydramnios typical (50%) HP:0001562
22 talipes typical (50%) HP:0001883
23 aplasia/hypoplasia of the iris typical (50%) HP:0008053
24 male pseudohermaphroditism occasional (7.5%) HP:0000037
25 furrowed tongue occasional (7.5%) HP:0000221
26 hydrocephalus occasional (7.5%) HP:0000238
27 abnormality of the urethra occasional (7.5%) HP:0000795
28 preaxial hand polydactyly occasional (7.5%) HP:0001177
29 dandy-walker malformation occasional (7.5%) HP:0001305
30 situs inversus totalis occasional (7.5%) HP:0001696
31 pancreatic cysts occasional (7.5%) HP:0001737
32 abnormality of the spleen occasional (7.5%) HP:0001743
33 anencephaly occasional (7.5%) HP:0002323
34 bowing of the long bones occasional (7.5%) HP:0006487
35 cystic liver disease occasional (7.5%) HP:0006706
36 aplasia/hypoplasia of the corpus callosum occasional (7.5%) HP:0007370
37 aplasia/hypoplasia of the tongue occasional (7.5%) HP:0010295
38 true hermaphroditism occasional (7.5%) HP:0010459
39 pancreatic fibrosis occasional (7.5%) HP:0100732
40 cryptorchidism HP:0000028
41 ambiguous genitalia, male HP:0000033
42 ambiguous genitalia, female HP:0000061
43 abnormality of the ureter HP:0000069
44 renal agenesis HP:0000104
45 polycystic kidney dysplasia HP:0000113
46 abnormality of the uterus HP:0000130
47 wide mouth HP:0000154
48 cleft palate HP:0000175
49 lobulated tongue HP:0000180
50 cleft upper lip HP:0000204
51 hydrocephalus HP:0000238
52 microcephaly HP:0000252
53 hypertelorism HP:0000316
54 sloping forehead HP:0000340
55 micrognathia HP:0000347
56 low-set ears HP:0000369
57 webbed neck HP:0000465
58 short neck HP:0000470
59 microphthalmia HP:0000568
60 hypotelorism HP:0000601
61 iris coloboma HP:0000612
62 natal tooth HP:0000695
63 adrenal hypoplasia HP:0000835
64 syndactyly HP:0001159
65 postaxial hand polydactyly HP:0001162
66 single umbilical artery HP:0001195
67 agenesis of corpus callosum HP:0001274
68 dandy-walker malformation HP:0001305
69 cerebellar hypoplasia HP:0001321
70 olfactory lobe agenesis HP:0001341
71 bile duct proliferation HP:0001408
72 intrauterine growth retardation HP:0001511
73 omphalocele HP:0001539
74 oligohydramnios HP:0001562
75 abnormality of the larynx HP:0001600
76 breech presentation HP:0001623
77 patent ductus arteriosus HP:0001643
78 abnormality of the cardiac septa HP:0001671
79 coarctation of aorta HP:0001680
80 splenomegaly HP:0001744
81 asplenia HP:0001746
82 accessory spleen HP:0001747
83 foot polydactyly HP:0001829
84 talipes HP:0001883
85 anal atresia HP:0002023
86 occipital encephalocele HP:0002085
87 pulmonary hypoplasia HP:0002089
88 arnold-chiari malformation HP:0002308
89 anencephaly HP:0002323
90 intestinal malrotation HP:0002566
91 external genital hypoplasia HP:0003241
92 elevated amniotic fluid alpha-fetoprotein HP:0004639
93 hypoplasia of the bladder HP:0005343
94 large placenta HP:0006267
95 bowing of the long bones HP:0006487
96 cerebral hypoplasia HP:0006872
97 radial deviation of finger HP:0009466
98 clinodactyly HP:0030084

Drugs & Therapeutics for Meckel Syndrome 1

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Interventional clinical trials:

idNameStatusNCT IDPhase
1UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational ResourceRecruitingNCT01401998

Search NIH Clinical Center for Meckel Syndrome 1

Genetic Tests for Meckel Syndrome 1

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Genetic tests related to Meckel Syndrome 1:

id Genetic test Affiliating Genes
1 Meckel-Gruber Syndrome25
2 Meckel Syndrome Type 125
3 Meckel Syndrome25 23 TMEM67

Anatomical Context for Meckel Syndrome 1

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MalaCards organs/tissues related to Meckel Syndrome 1:

Kidney, Liver, Brain, Lung, Tongue, Bone, Spleen

Animal Models for Meckel Syndrome 1 or affiliated genes

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MGI Mouse Phenotypes related to Meckel Syndrome 1:

39 (show all 13)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000538210.1B9D1, CC2D2A, CEP290, MKS1, RPGRIP1L, TCTN2
2MP:000537010.0B9D1, B9D2, CEP290, INVS, MKS1, PKHD1
3MP:00053889.7ARL13B, B9D2, CC2D2A, CEP290, INVS, MKS1
4MP:00053819.6B9D1, B9D2, CC2D2A, INVS, MKS1, PKHD1
5MP:00053719.4B9D1, CC2D2A, MKS1, RPGRIP1L, TCTN1, TCTN2
6MP:00053809.4ARL13B, B9D1, CC2D2A, INVS, MKS1, RPGRIP1L
7MP:00053849.2B9D1, B9D2, CC2D2A, CEP290, INVS, MKS1
8MP:00053919.1B9D1, CC2D2A, CEP290, MKS1, NPHP1, NPHP4
9MP:00053859.1B9D1, CC2D2A, CEP290, INVS, MKS1, NPHP4
10MP:00107689.0ARL13B, B9D1, B9D2, CC2D2A, CEP290, INVS
11MP:00053679.0B9D1, CC2D2A, CEP290, INVS, MKS1, NPHP1
12MP:00036318.9ARL13B, B9D1, CC2D2A, CEP290, MKS1, NPHP4
13MP:00053788.7ARL13B, B9D1, B9D2, CC2D2A, CEP290, INVS

Publications for Meckel Syndrome 1

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Articles related to Meckel Syndrome 1:

Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins. (19208769)

Variations for Meckel Syndrome 1

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Clinvar genetic disease variations for Meckel Syndrome 1:

5 (show all 22)
id Gene Variation Type Significance SNP ID Assembly Location
1CEP290NM_025114.3(CEP290): c.5668G> T (p.Gly1890Ter)single nucleotide variantPathogenicrs137852832GRCh37Chr 12, 88471040: 88471040
2MKS1NM_017777.3(MKS1): c.50_54dupCCCGG (p.Asp19Profs)duplicationPathogenicrs730880323GRCh37Chr 17, 56296538: 56296542
3MKS1NM_017777.3(MKS1): c.80+2T> Csingle nucleotide variantLikely pathogenic, Pathogenicrs386834052GRCh37Chr 17, 56296510: 56296510
4MKS1NM_017777.3(MKS1): c.1024+1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs199874059GRCh37Chr 17, 56288019: 56288019
5MKS1NM_017777.3(MKS1): c.417G> A (p.Glu139=)single nucleotide variantLikely pathogenic, Pathogenicrs386834048GRCh37Chr 17, 56293449: 56293449
6MKS1NM_017777.3(MKS1)deletionPathogenicrs386834043GRCh37Chr 17, 56283914: 56283942
7MKS1NM_001165927.1(MKS1): c.995-2A> Csingle nucleotide variantPathogenicrs794727070GRCh37Chr 17, 56285946: 56285946
8MKS1NM_017777.3(MKS1): c.844C> T (p.Arg282Ter)single nucleotide variantPathogenicrs797045706GRCh38Chr 17, 58212996: 58212996
9MKS1NM_017777.3(MKS1): c.1048C> G (p.Gln350Glu)single nucleotide variantLikely pathogenicrs386834041GRCh37Chr 17, 56285921: 56285921
10MKS1NM_017777.3(MKS1): c.1048C> T (p.Gln350Ter)single nucleotide variantLikely pathogenicrs386834041GRCh37Chr 17, 56285921: 56285921
11MKS1NM_017777.3(MKS1): c.1407+2delTdeletionLikely pathogenicrs386834042GRCh37Chr 17, 56284444: 56284444
12MKS1NM_017777.3(MKS1): c.1450_1453dupGGCA (p.Thr485Argfs)duplicationLikely pathogenic, Pathogenicrs386834044GRCh37Chr 17, 56283863: 56283866
13MKS1NM_017777.3(MKS1): c.1490G> A (p.Arg497Lys)single nucleotide variantLikely pathogenicrs386834045GRCh37Chr 17, 56283826: 56283826
14MKS1NM_017777.3(MKS1): c.184_190delACTGCCA (p.Thr62Valfs)deletionLikely pathogenicrs386834046GRCh37Chr 17, 56295981: 56295987
15MKS1NM_017777.3(MKS1): c.392_393delCT (p.Ser131Terfs)deletionLikely pathogenicrs386834047GRCh37Chr 17, 56293473: 56293474
16MKS1NM_017777.3(MKS1): c.424C> T (p.Gln142Ter)single nucleotide variantLikely pathogenicrs386834049GRCh37Chr 17, 56292193: 56292193
17MKS1NM_017777.3(MKS1): c.472C> T (p.Arg158Ter)single nucleotide variantLikely pathogenicrs386834050GRCh37Chr 17, 56292145: 56292145
18MKS1NM_017777.3(MKS1): c.515+1G> Asingle nucleotide variantLikely pathogenicrs201933838GRCh37Chr 17, 56292101: 56292101
19MKS1NM_017777.3(MKS1): c.51_55dupCCGGG (p.Asp19Alafs)duplicationLikely pathogenicrs386834051GRCh37Chr 17, 56296537: 56296541
20MKS1NM_017777.3(MKS1): c.958G> A (p.Val320Ile)single nucleotide variantLikely pathogenicrs386834053GRCh37Chr 17, 56288341: 56288341
21TMEM67NM_153704.5(TMEM67): c.1046T> C (p.Leu349Ser)single nucleotide variantLikely pathogenic, Pathogenicrs386834180GRCh37Chr 8, 94793953: 94793953
22CEP290NM_025114.3(CEP290): c.3175dupA (p.Ile1059Asnfs)duplicationPathogenicrs62640570GRCh37Chr 12, 88487681: 88487681

Copy number variations for Meckel Syndrome 1 from CNVD:

id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
13374814760000059900000Copy numberMeckel-Gruber syndrome

Expression for genes affiliated with Meckel Syndrome 1

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Search GEO for disease gene expression data for Meckel Syndrome 1.

Pathways for genes affiliated with Meckel Syndrome 1

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GO Terms for genes affiliated with Meckel Syndrome 1

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Cellular components related to Meckel Syndrome 1 according to GeneCards Suite gene sharing:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1photoreceptor connecting ciliumGO:003239110.6CEP290, NPHP1, NPHP4, RPGRIP1
2bicellular tight junctionGO:000592310.6NPHP1, NPHP4, RPGRIP1L
3ciliary basal bodyGO:003606410.3B9D1, B9D2, CEP290, MKS1, PKHD1, RPGRIP1L
4axonemeGO:000593010.3ARL13B, RPGRIP1, RPGRIP1L, WDPCP
5ciliumGO:000592910.2ARL13B, INVS, RPGRIP1, RPGRIP1L, TMEM216
6cytoskeletonGO:000585610.1CC2D2A, NPHP1, TCTN1, TCTN2, TMEM216, WDPCP
7MKS complexGO:003603810.0B9D1, B9D2, CC2D2A, CEP290, MKS1, TCTN1
8ciliary transition zoneGO:003586910.0B9D1, CC2D2A, CEP290, MKS1, NPHP4, RPGRIP1L
9centrosomeGO:00058139.9B9D1, B9D2, CEP290, CSPP1, MKS1, NPHP4
10ciliary membraneGO:00601709.9ARL13B, TCTN2, TMEM231, TMEM67
11cytosolGO:00058299.4B9D1, B9D2, CC2D2A, CEP290, MKS1, NPHP1
12membraneGO:00160209.4B9D1, B9D2, CEP290, INVS, MKS1, NPHP1

Biological processes related to Meckel Syndrome 1 according to GeneCards Suite gene sharing:

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1neural tube patterningGO:002153210.8ARL13B, RPGRIP1L
2positive regulation of bicellular tight junction assemblyGO:190334810.8NPHP1, NPHP4
3visual behaviorGO:000763210.8NPHP1, NPHP4
4motile primary cilium assemblyGO:190388710.8CC2D2A, MKS1
5protein localization to ciliary transition zoneGO:190449110.8CC2D2A, TCTN1
6eye photoreceptor cell developmentGO:004246210.7CEP290, RPGRIP1
7telencephalon developmentGO:002153710.7RPGRIP1L, TCTN1
8embryonic brain developmentGO:199040310.7CC2D2A, MKS1
9establishment of planar polarityGO:000173610.6RPGRIP1L, WDPCP
10embryonic digit morphogenesisGO:004273310.6B9D1, MKS1, WDPCP
11regulation of smoothened signaling pathwayGO:000858910.5MKS1, RPGRIP1L, TCTN1
12kidney developmentGO:000182210.4PKHD1, RPGRIP1L, WDPCP
13camera-type eye developmentGO:004301010.4B9D1, CC2D2A, RPGRIP1L, WDPCP
14nonmotile primary cilium assemblyGO:003505810.4ARL13B, CC2D2A, MKS1
15head developmentGO:006032210.4MKS1, RPGRIP1L
16retina development in camera-type eyeGO:006004110.0NPHP1, NPHP4, RPGRIP1
17single organismal cell-cell adhesionGO:001633710.0NPHP1, NPHP4, PKHD1
18smoothened signaling pathwayGO:00072249.9ARL13B, B9D1, CC2D2A, TCTN2, TMEM231, WDPCP
19determination of left/right symmetryGO:00073689.7ARL13B, CC2D2A, MKS1, RPGRIP1L
20cilium morphogenesisGO:00602719.5B9D1, CC2D2A, CEP290, MKS1, RPGRIP1L, TCTN1
21cilium assemblyGO:00423849.2ARL13B, B9D1, B9D2, CC2D2A, CEP290, MKS1

Molecular functions related to Meckel Syndrome 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:00055158.3ARL13B, B9D1, B9D2, CC2D2A, CEP290, CSPP1

Sources for Meckel Syndrome 1

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29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet