Meckel Syndrome 1 malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Nephrological diseases, Bone diseases, Fetal diseases, Immune diseases, Endocrine diseases categories

Aliases & Classifications for Meckel Syndrome 1

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49OMIM, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 12DISEASES, 51Orphanet, 24GTR, 67UniProtKB/Swiss-Prot, 29ICD9CM, 66UMLS via Orphanet, 28ICD10 via Orphanet, 34MedGen, 36MeSH
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Aliases & Descriptions for Meckel Syndrome 1:

Name: Meckel Syndrome 1 49 11 24 67
Meckel Syndrome 10 45 22 23 12 51
Meckel-Gruber Syndrome 10 23 51 67
Dysencephalia Splanchnocystica 23 67
Meckel Gruber Syndrome 45 24
Gruber Syndrome 45 67
Mks 45 23
Dysencephalia Splachnocystica 45
Mks1 67
Mes 67


Characteristics (Orphanet epidemiological data):

meckel syndrome:
Inheritance: Autosomal recessive; Prevalence: 1-5/10000 (Finland),1-9/100000 (Worldwide),<1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: early childhood

External Ids:

OMIM49 249000
Disease Ontology10 DOID:0050778
ICD9CM29 753.10
Orphanet51 564
UMLS via Orphanet66 C0265215
ICD10 via Orphanet28 Q61.9

Summaries for Meckel Syndrome 1

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OMIM:49 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 nephronophthisis 1, juvenile and arteriosclerosis, 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 liver/biliary system and craniofacial.

Disease Ontology:10 A ciliopathy that is characterized by renal cystic dysplasia, occipital encephalocele, polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia.

NIH Rare Diseases:45 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

Genetics Home Reference:23 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.

UniProtKB/Swiss-Prot:67 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.

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 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 Nphp3-Related Meckel-Like Syndrome

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

(show top 50)    (show all 475)
idRelated DiseaseScoreTop Affiliating Genes
1nephronophthisis 1, juvenile30.9INVS, NPHP1, NPHP4
2arteriosclerosis30.4CC2D2A, NPHP1, TMEM216, TMEM231
3b cell deficiency30.1CEP290, INVS, MKS1, NPHP1, NPHP4, TMEM67
4bardet-biedl syndrome 1329.9ARL13B, B9D1, B9D2, C2CD3, CC2D2A, CEP290
5joubert syndrome 129.6ARL13B, B9D1, B9D2, C2CD3, CC2D2A, CEP290
6chronic fatigue syndrome10.6
7meckel syndrome 310.5
8meckel syndrome 210.5
10meckel syndrome 410.5
11meckel syndrome 910.5
12periodic fever, familial10.5
13tumor necrosis factor receptor 1 associated periodic syndrome10.5
14meckel syndrome 710.5
15meckel syndrome 810.5
17parasitic protozoa infectious disease10.4
18meckel syndrome 610.4
19meckel syndrome 510.4
20meckel syndrome 1010.4
21uterine sarcoma10.4
22meckel syndrome 1210.4
23meckel syndrome 1110.4
24cerebrofacial arteriovenous metameric syndrome type 110.3CC2D2A, RPGRIP1L, TMEM67
26hypoplastic left heart syndrome10.3
29cor triatriatum10.3
32b9d1-related meckel syndrome10.3
33b9d2-related meckel syndrome10.3
34tctn2-related meckel syndrome10.3
35coach syndrome10.3CC2D2A, RPGRIP1L, TMEM67
36juberg-hayward syndrome10.3NPHP1, RPGRIP1L
37plasmodium falciparum malaria10.3
38hydrolethalus syndrome10.3MKS1, PKHD1, TMEM216, TMEM67
39bardet-biedl syndrome 1410.3CEP290, TMEM67
40neural tube defects10.2
42cc2d2a-related meckel syndrome10.2
43cep290-related meckel syndrome10.2
44mks1-related meckel syndrome10.2
45nphp3-related meckel syndrome10.2
46rpgrip1l-related meckel syndrome10.2
47tmem216-related meckel syndrome10.2
48tmem67-related meckel syndrome10.2
50microcytic anemia10.2

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:



 51 (show all 45)
  • microcephaly
  • postaxial polydactyly (hand)
  • postaxial polydactyly of toes/fifth supernumerary toe
  • congenital hepatic fibrosis
  • multicystic kidney/renal dysplasia
  • encephalocele/exencephaly
  • autosomal recessive inheritance
  • stillbirth/neonatal death
  • sloping forehead
  • broad cheeks/cherub-like/cherubin face
  • hypertelorism
  • micrognathia/retrognathia/micrognathism/retrognathism
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • aniridia/iris hypoplasia
  • microcornea
  • sclerocornea
  • cataract/lens opacification
  • retinal/chorioretinal dysplasia/dystrophy
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • flattened nose
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • low set ears/posteriorly rotated ears
  • talipes-varus/metatarsal varus
  • ambiguous genitalia
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • holoprosencephaly/arhinencephaly/unique lateral ventricle
  • oligoamnios
  • microglossia/aglossia/hypoglossia/tongue hypoplasia
  • fissured/scrotal tongue
  • preaxial polydactyly (hand)
  • polycystic liver disease/hepatic cysts
  • congenital pancreatic cyst
  • pancreatic fibrosis
  • asplenia/polysplenia/spleen lobulation/accessory spleen
  • dextrocardia/abnormal heart position/cardiac heterotaxia/situs inversus
  • congenital cardiac anomaly/malformation/cardiopathy
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • urethral anomalies/stenosis/posterior urethral valves/megalocystis
  • true hermaphrodism
  • male pseudohermaphrodism/lack of virilisation
  • anencephaly/acrania
  • hydrocephaly
  • dandy-walker anomaly
  • corpus callosum/septum pellucidum total/partial agenesis
  • bowed diaphysis/diaphyses/long bones

HPO human phenotypes related to Meckel Syndrome 1:

(show all 99)
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 autosomal recessive inheritance HP:0000007
41 cryptorchidism HP:0000028
42 ambiguous genitalia, male HP:0000033
43 ambiguous genitalia, female HP:0000061
44 abnormality of the ureter HP:0000069
45 renal agenesis HP:0000104
46 polycystic kidney dysplasia HP:0000113
47 abnormality of the uterus HP:0000130
48 wide mouth HP:0000154
49 cleft palate HP:0000175
50 lobulated tongue HP:0000180
51 cleft upper lip HP:0000204
52 hydrocephalus HP:0000238
53 microcephaly HP:0000252
54 hypertelorism HP:0000316
55 sloping forehead HP:0000340
56 micrognathia HP:0000347
57 low-set ears HP:0000369
58 webbed neck HP:0000465
59 short neck HP:0000470
60 microphthalmos HP:0000568
61 hypotelorism HP:0000601
62 iris coloboma HP:0000612
63 natal tooth HP:0000695
64 adrenal hypoplasia HP:0000835
65 syndactyly HP:0001159
66 postaxial hand polydactyly HP:0001162
67 single umbilical artery HP:0001195
68 agenesis of corpus callosum HP:0001274
69 dandy-walker malformation HP:0001305
70 cerebellar hypoplasia HP:0001321
71 olfactory lobe agenesis HP:0001341
72 bile duct proliferation HP:0001408
73 intrauterine growth retardation HP:0001511
74 omphalocele HP:0001539
75 oligohydramnios HP:0001562
76 abnormality of the larynx HP:0001600
77 breech presentation HP:0001623
78 patent ductus arteriosus HP:0001643
79 abnormality of the cardiac septa HP:0001671
80 coarctation of aorta HP:0001680
81 splenomegaly HP:0001744
82 asplenia HP:0001746
83 accessory spleen HP:0001747
84 foot polydactyly HP:0001829
85 talipes HP:0001883
86 anal atresia HP:0002023
87 occipital encephalocele HP:0002085
88 pulmonary hypoplasia HP:0002089
89 arnold-chiari malformation HP:0002308
90 anencephaly HP:0002323
91 intestinal malrotation HP:0002566
92 external genital hypoplasia HP:0003241
93 elevated amniotic fluid alpha-fetoprotein HP:0004639
94 hypoplasia of the bladder HP:0005343
95 large placenta HP:0006267
96 bowing of the long bones HP:0006487
97 cerebral hypoplasia HP:0006872
98 radial deviation of finger HP:0009466
99 clinodactyly HP:0030084

Drugs & Therapeutics for Meckel Syndrome 1

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Drugs for Meckel Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
Risperidoneapproved, investigationalPhase 3579106266-06-25073
3-[2-[4-(6-Fluoro-1,2-benzisoxazol-3-yl)-1-piperidinyl]-6,7,8,9-tetrahydro-2-methyl-4H-pyrido [1,2-a] pyrimidin-4-one
BRN 4891881
Consta, Risperdal
HSDB 7580
R 62 766
R 64 766, Risperdal, Risperidone
R 64,766
R 64766
Risperdal (TN)
Risperdal Consta
Risperdal M-Tab
Risperdal M-tab
Risperidal M-Tab
Risperidona [Spanish]
Risperidone (JAN/USAN/INN)
Risperidone (RIS)
Risperidone M-tab
Risperidone [USAN:BAN:INN]
Risperidone, placebo
Risperidonum [Latin]
29-hydroxy-risperidonePhase 3172

Interventional clinical trials:

idNameStatusNCT IDPhase
1An Efficacy, Safety And Tolerability Study of Flexibly Dosed Paliperidone Extended Release (ER) in Participants With SchizophreniaActive, not recruitingNCT00460512Phase 3
2UAB 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 Syndrome22 TMEM67
2 Meckel-Gruber Syndrome24
3 Meckel Syndrome Type 124

Anatomical Context for Meckel Syndrome 1

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MalaCards organs/tissues related to Meckel Syndrome 1:

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

Animal Models for Meckel Syndrome 1 or affiliated genes

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MGI Mouse Phenotypes related to Meckel Syndrome 1:

38 (show all 13)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.9B9D1, B9D2, INVS, MKS1, PKHD1, RPGRIP1L
2MP:00053829.8B9D1, B9D2, CC2D2A, CEP290, MKS1, RPGRIP1L
3MP:00053819.6B9D1, B9D2, CC2D2A, INVS, MKS1, PKHD1
4MP:00053849.5B9D2, CC2D2A, CEP290, MKS1, NPHP4, PKHD1
5MP:00053719.5B9D1, B9D2, C2CD3, CC2D2A, MKS1, RPGRIP1L
6MP:00053679.3B9D1, CC2D2A, CEP290, INVS, MKS1, NPHP1
7MP:00053889.2ARL13B, B9D2, CEP290, INVS, MKS1, PKHD1
8MP:00053809.1ARL13B, B9D1, C2CD3, CC2D2A, INVS, MKS1
9MP:00053789.0ARL13B, B9D1, B9D2, CC2D2A, CEP290, INVS
10MP:00053919.0B9D1, B9D2, CC2D2A, CEP290, MKS1, NPHP1
11MP:00053859.0B9D1, C2CD3, CC2D2A, CEP290, INVS, MKS1
12MP:00107688.8ARL13B, B9D1, B9D2, C2CD3, CC2D2A, INVS
13MP:00036318.4ARL13B, B9D1, C2CD3, CC2D2A, CEP290, MKS1

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 117)
id Gene Variation Type Significance SNP ID Assembly Location
1CSPP1NM_024790.6(CSPP1): c.2244_2247delAAGA (p.Glu750Lysfs)deletionLikely pathogenic, Pathogenicrs587777145GRCh37Chr 8, 68070699: 68070702
2RPGRIP1LNM_001127897.2(RPGRIP1L): c.394A> T (p.Arg132Ter)single nucleotide variantPathogenicrs121918201GRCh37Chr 16, 53726113: 53726113
3RPGRIP1LNM_001127897.2(RPGRIP1L): c.1033C> T (p.Gln345Ter)single nucleotide variantPathogenicrs121918202GRCh37Chr 16, 53705492: 53705492
4CC2D2ANM_001080522.2(CC2D2A): c.394C> T (p.Arg132Ter)single nucleotide variantPathogenicrs377177061GRCh37Chr 4, 15504502: 15504502
5CC2D2ANM_001080522.2(CC2D2A): c.4384T> C (p.Trp1462Arg)single nucleotide variantLikely pathogenicrs368720062GRCh37Chr 4, 15597777: 15597777
6CC2D2ANM_001080522.2(CC2D2A): c.4407C> G (p.Ser1469Arg)single nucleotide variantLikely pathogenicrs587779732GRCh38Chr 4, 15596177: 15596177
7CEP290NM_025114.3(CEP290): c.4621delA (p.Thr1541Profs)deletionPathogenicrs587779733GRCh37Chr 12, 88478446: 88478446
8TMEM67NM_153704.5(TMEM67): c.748G> A (p.Gly250Arg)single nucleotide variantLikely pathogenicrs587779736GRCh37Chr 8, 94792854: 94792854
9CEP290NM_025114.3(CEP290): c.5668G> T (p.Gly1890Ter)single nucleotide variantPathogenicrs137852832GRCh37Chr 12, 88471040: 88471040
10CEP290CEP290, 4-BP DEL, 384TAGAdeletionPathogenic
11CEP290CEP290, EX3, T-A, +2single nucleotide variantPathogenic
12CEP290NM_025114.3(CEP290): c.613C> T (p.Arg205Ter)single nucleotide variantPathogenicrs137852835GRCh37Chr 12, 88524101: 88524101
13CEP290CEP290, 1-BP DEL, 5489AdeletionPathogenic
14TMEM67NM_153704.5(TMEM67): c.383_384delAC (p.His128Leufs)deletionLikely pathogenic, Pathogenicrs386834200GRCh37Chr 8, 94770781: 94770782
15TMEM67NM_153704.5(TMEM67): c.648delA (p.Val217Leufs)deletionLikely pathogenic, Pathogenicrs386834204GRCh38Chr 8, 93765643: 93765643
16TMEM67NM_153704.5(TMEM67): c.870-2A> Gsingle nucleotide variantLikely pathogenic, Pathogenicrs386834207GRCh37Chr 8, 94793100: 94793100
17TMEM67NM_001142301.1(TMEM67): c.884A> C (p.Gln295Pro)single nucleotide variantPathogenicrs137853106GRCh37Chr 8, 94794684: 94794684
18TMEM67NM_153704.5(TMEM67): c.1575+1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs386834187GRCh37Chr 8, 94803548: 94803548
19TMEM67NM_153704.5(TMEM67): c.651+2T> Gsingle nucleotide variantLikely pathogenic, Pathogenicrs199821258GRCh37Chr 8, 94777876: 94777876
20TMEM67NM_153704.5(TMEM67): c.622A> T (p.Arg208Ter)single nucleotide variantPathogenicrs137853108GRCh37Chr 8, 94777845: 94777845
21MKS1NM_017777.3(MKS1): c.1408-35_1408-7del29deletionPathogenicrs386834043GRCh38Chr 17, 58206554: 58206582
22MKS1NM_017777.3(MKS1): c.50_54dupCCCGG (p.Asp19Profs)duplicationPathogenicrs730880323GRCh37Chr 17, 56296538: 56296542
23MKS1NM_017777.3(MKS1): c.80+2T> Csingle nucleotide variantLikely pathogenic, Pathogenicrs386834052GRCh37Chr 17, 56296510: 56296510
24MKS1NM_017777.3(MKS1): c.1024+1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs199874059GRCh37Chr 17, 56288019: 56288019
25MKS1NM_017777.3(MKS1): c.417G> A (p.Glu139=)single nucleotide variantLikely pathogenic, Pathogenicrs386834048GRCh37Chr 17, 56293449: 56293449
26TMEM237NM_001044385.2(TMEM237): c.869+1G> Asingle nucleotide variantLikely pathogenicrs730882231GRCh37Chr 2, 202493952: 202493952
27EVC2NM_147127.4(EVC2)duplicationLikely pathogenicrs730882232GRCh37Chr 4, 5564609: 5564632
28NM_021807.3(EXOC4): c.1733A> G (p.Gln578Arg)single nucleotide variantLikely pathogenicrs730882233GRCh38Chr 7, 133817543: 133817543
29MKS1NM_017777.3(MKS1)deletionPathogenicrs749737706GRCh37Chr 17, 56283914: 56283942
30CC2D2ANM_001080522.2(CC2D2A): c.1017dupC (p.Glu340Argfs)duplicationPathogenicrs797044636GRCh37Chr 4, 15517627: 15517627
31MKS1NM_001165927.1(MKS1): c.995-2A> Csingle nucleotide variantPathogenicrs794727070GRCh37Chr 17, 56285946: 56285946
32RPGRIP1LNM_001127897.2(RPGRIP1L): c.2030C> T (p.Thr677Ile)single nucleotide variantPathogenicrs532768944GRCh37Chr 16, 53686569: 53686569
33TMEM216NM_001173990.2(TMEM216): c.218G> A (p.Arg73His)single nucleotide variantPathogenicrs201108965GRCh37Chr 11, 61161437: 61161437
34TMEM216NM_001173991.2(TMEM216): c.341T> G (p.Leu114Arg)single nucleotide variantLikely pathogenic, Pathogenicrs386833831GRCh37Chr 11, 61165357: 61165357
35TMEM216NM_001173991.2(TMEM216): c.230G> C (p.Gly77Ala)single nucleotide variantLikely pathogenic, Pathogenicrs386833830GRCh37Chr 11, 61165246: 61165246
36MKS1NM_017777.3(MKS1): c.844C> T (p.Arg282Ter)single nucleotide variantPathogenicrs797045706GRCh38Chr 17, 58212996: 58212996
37CEP290NM_025114.3(CEP290): c.4243G> T (p.Glu1415Ter)single nucleotide variantLikely pathogenicrs797044604GRCh38Chr 12, 88086450: 88086450
38TMEM67NM_153704.5(TMEM67): c.725A> G (p.Asn242Ser)single nucleotide variantPathogenicrs775883520GRCh37Chr 8, 94792831: 94792831
39B9D2B9D2, SER101ARGsingle nucleotide variantPathogenic
40TCTN2NM_024809.4(TCTN2): c.1506-2A> Gsingle nucleotide variantPathogenicrs374349989GRCh37Chr 12, 124184249: 124184249
41B9D1B9D1, 1.71-MB DELdeletionPathogenic
42TMEM67NM_153704.5(TMEM67): c.2754_2756delCTT (p.Phe919del)deletionPathogenicrs786205126GRCh38Chr 8, 93809877: 93809879
43CC2D2ANM_001080522.2(CC2D2A): c.1339delG (p.Ala447Argfs)deletionLikely pathogenicrs386833745GRCh37Chr 4, 15529259: 15529259
44CC2D2ANM_001080522.2(CC2D2A): c.1537T> A (p.Trp513Arg)single nucleotide variantLikely pathogenicrs386833746GRCh37Chr 4, 15534886: 15534886
45CC2D2ANM_001080522.2(CC2D2A): c.2486+1G> Csingle nucleotide variantLikely pathogenicrs386833747GRCh37Chr 4, 15554929: 15554929
46CC2D2ANM_001080522.2(CC2D2A): c.2773C> T (p.Arg925Ter)single nucleotide variantLikely pathogenicrs386833748GRCh37Chr 4, 15559074: 15559074
47CC2D2ANM_001080522.2(CC2D2A): c.3084delG (p.Lys1029Argfs)deletionLikely pathogenicrs386833749GRCh37Chr 4, 15565047: 15565047
48CC2D2ANM_001080522.2(CC2D2A): c.3145C> G (p.Arg1049Gly)single nucleotide variantLikely pathogenicrs386833750GRCh37Chr 4, 15565108: 15565108
49CC2D2ANM_001080522.2(CC2D2A): c.3289delG (p.Val1097Phefs)deletionLikely pathogenic, Pathogenicrs386833751GRCh37Chr 4, 15569300: 15569300
50CC2D2ANM_001080522.2(CC2D2A): c.3341C> T (p.Thr1114Met)single nucleotide variantLikely pathogenic, Pathogenicrs386833752GRCh37Chr 4, 15569352: 15569352
51CC2D2ANM_001080522.2(CC2D2A): c.3399-3C> Asingle nucleotide variantLikely pathogenicrs386833753GRCh37Chr 4, 15570913: 15570913
52CC2D2ANM_001080522.2(CC2D2A): c.3522_3523insTG (p.His1175Cysfs)insertionLikely pathogenicrs386833754GRCh37Chr 4, 15572047: 15572048
53CC2D2ANM_001080522.2(CC2D2A): c.3544T> C (p.Trp1182Arg)single nucleotide variantLikely pathogenicrs386833755GRCh37Chr 4, 15572069: 15572069
54CC2D2ANM_001080522.2(CC2D2A): c.3584delT (p.Phe1195Serfs)deletionLikely pathogenicrs386833756GRCh37Chr 4, 15572109: 15572109
55CC2D2ANM_001080522.2(CC2D2A): c.3774dupT (p.Glu1259Terfs)duplicationLikely pathogenic, Pathogenicrs386833757GRCh37Chr 4, 15581593: 15581593
56CC2D2ANM_001080522.2(CC2D2A): c.3893T> A (p.Val1298Asp)single nucleotide variantLikely pathogenicrs386833758GRCh37Chr 4, 15581712: 15581712
57CC2D2ANM_001080522.2(CC2D2A): c.3975_3975+3delAGTAdeletionLikely pathogenicrs386833759GRCh37Chr 4, 15581794: 15581797
58CC2D2ANM_001080522.2(CC2D2A): c.4179+1delGdeletionLikely pathogenic, Pathogenicrs386833760GRCh37Chr 4, 15589553: 15589553
59CC2D2ANM_001080522.2(CC2D2A): c.4179delG (p.Gly1394Valfs)deletionLikely pathogenicrs386833761GRCh37Chr 4, 15589552: 15589552
60CC2D2ANM_001080522.2(CC2D2A): c.4496+2T> Asingle nucleotide variantLikely pathogenicrs386833762GRCh37Chr 4, 15599090: 15599090
61CC2D2ANM_001080522.2(CC2D2A): c.517C> T (p.Arg173Ter)single nucleotide variantLikely pathogenicrs386833763GRCh37Chr 4, 15511840: 15511840
62CC2D2ANM_001080522.2(CC2D2A): c.834delG (p.Leu279Cysfs)deletionLikely pathogenicrs386833765GRCh37Chr 4, 15516446: 15516446
63TMEM216NM_001173990.2(TMEM216): c.253C> T (p.Arg85Ter)single nucleotide variantLikely pathogenic, Pathogenicrs11230683GRCh37Chr 11, 61165269: 61165269
64RPGRIP1LNM_015272.3(RPGRIP1L): c.1829A> C (p.His610Pro)single nucleotide variantLikely pathogenicrs386833997GRCh37Chr 16, 53686770: 53686770
65RPGRIP1LNM_015272.3(RPGRIP1L): c.723_726delTGAA (p.Asn241Lysfs)deletionLikely pathogenicrs386833998GRCh37Chr 16, 53720395: 53720398
66MKS1NM_017777.3(MKS1): c.1048C> G (p.Gln350Glu)single nucleotide variantLikely pathogenicrs386834041GRCh37Chr 17, 56285921: 56285921
67MKS1NM_017777.3(MKS1): c.1048C> T (p.Gln350Ter)single nucleotide variantLikely pathogenicrs386834041GRCh37Chr 17, 56285921: 56285921
68MKS1NM_017777.3(MKS1): c.1407+2delTdeletionLikely pathogenicrs386834042GRCh37Chr 17, 56284444: 56284444
69MKS1NM_017777.3(MKS1): c.1450_1453dupGGCA (p.Thr485Argfs)duplicationLikely pathogenicrs386834044GRCh37Chr 17, 56283863: 56283866
70MKS1NM_017777.3(MKS1): c.1490G> A (p.Arg497Lys)single nucleotide variantLikely pathogenicrs386834045GRCh37Chr 17, 56283826: 56283826
71MKS1NM_017777.3(MKS1): c.184_190delACTGCCA (p.Thr62Valfs)deletionLikely pathogenicrs386834046GRCh37Chr 17, 56295981: 56295987
72MKS1NM_017777.3(MKS1): c.392_393delCT (p.Ser131Terfs)deletionLikely pathogenicrs386834047GRCh37Chr 17, 56293473: 56293474
73MKS1NM_017777.3(MKS1): c.424C> T (p.Gln142Ter)single nucleotide variantLikely pathogenicrs386834049GRCh37Chr 17, 56292193: 56292193
74MKS1NM_017777.3(MKS1): c.472C> T (p.Arg158Ter)single nucleotide variantLikely pathogenicrs386834050GRCh37Chr 17, 56292145: 56292145
75MKS1NM_017777.3(MKS1): c.515+1G> Asingle nucleotide variantLikely pathogenicrs201933838GRCh37Chr 17, 56292101: 56292101
76MKS1NM_017777.3(MKS1): c.51_55dupCCGGG (p.Asp19Alafs)duplicationLikely pathogenicrs386834051GRCh37Chr 17, 56296537: 56296541
77MKS1NM_017777.3(MKS1): c.958G> A (p.Val320Ile)single nucleotide variantLikely pathogenicrs386834053GRCh37Chr 17, 56288341: 56288341
78CEP290NM_025114.3(CEP290): c.1219_1220delAT (p.Met407Glufs)deletionLikely pathogenic, Pathogenicrs386834148GRCh37Chr 12, 88514913: 88514914
79CEP290NM_025114.3(CEP290): c.1451delA (p.Lys484Argfs)deletionLikely pathogenic, Pathogenicrs386834149GRCh37Chr 12, 88513962: 88513962
80CEP290NM_025114.3(CEP290): c.180+2T> Asingle nucleotide variantLikely pathogenicrs386834150GRCh37Chr 12, 88534731: 88534731
81CEP290NM_025114.3(CEP290): c.1860_1861delAA (p.Asp622Phefs)deletionLikely pathogenicrs386834151GRCh37Chr 12, 88508923: 88508924
82CEP290NM_025114.3(CEP290): c.1984C> T (p.Gln662Ter)single nucleotide variantLikely pathogenic, Pathogenicrs386834152GRCh37Chr 12, 88508265: 88508265
83CEP290NM_025114.3(CEP290): c.289G> T (p.Glu97Ter)single nucleotide variantLikely pathogenicrs386834153GRCh37Chr 12, 88532930: 88532930
84CEP290NM_025114.3(CEP290): c.3175delA (p.Ile1059Terfs)deletionLikely pathogenicrs386834154GRCh37Chr 12, 88487681: 88487681
85CEP290NM_025114.3(CEP290): c.3446_3447delAA (p.Lys1149Serfs)deletionLikely pathogenicrs386834155GRCh37Chr 12, 88486472: 88486473
86CEP290NM_025114.3(CEP290): c.381_382delAGinsT (p.Lys127Asnfs)indelLikely pathogenicrs386834156GRCh37Chr 12, 88530479: 88530480
87CEP290NM_025114.3(CEP290): c.384_387delTAGA (p.Asp128Glufs)deletionLikely pathogenicrs386834157GRCh37Chr 12, 88530474: 88530477
88CEP290NM_025114.3(CEP290): c.5493delA (p.Ala1832Profs)deletionLikely pathogenicrs386834158GRCh37Chr 12, 88471567: 88471567
89CEP290NM_025114.3(CEP290): c.5850delT (p.Phe1950Leufs)deletionLikely pathogenicrs386834159GRCh37Chr 12, 88465563: 88465563
90TMEM67NM_153704.5(TMEM67): c.1046T> C (p.Leu349Ser)single nucleotide variantLikely pathogenic, Pathogenicrs386834180GRCh37Chr 8, 94793953: 94793953
91TMEM67NM_153704.5(TMEM67): c.1065+1delGdeletionLikely pathogenicrs386834181GRCh37Chr 8, 94793973: 94793973
92TMEM67NM_153704.5(TMEM67): c.1319G> A (p.Arg440Gln)single nucleotide variantLikely pathogenicrs386834182GRCh37Chr 8, 94798481: 94798481
93TMEM67NM_153704.5(TMEM67): c.1322G> T (p.Arg441Leu)single nucleotide variantLikely pathogenicrs386834183GRCh37Chr 8, 94798484: 94798484
94TMEM67NM_153704.5(TMEM67): c.1336G> C (p.Asp446His)single nucleotide variantLikely pathogenicrs386834184GRCh37Chr 8, 94798498: 94798498
95TMEM67NM_153704.5(TMEM67): c.1413-1G> Csingle nucleotide variantLikely pathogenicrs386834185GRCh37Chr 8, 94800071: 94800071
96TMEM67NM_153704.5(TMEM67): c.1538_1539delAT (p.Tyr513Terfs)deletionLikely pathogenicrs386834186GRCh37Chr 8, 94803510: 94803511
97TMEM67NM_153704.5(TMEM67): c.161A> G (p.Tyr54Cys)single nucleotide variantLikely pathogenicrs386834188GRCh37Chr 8, 94767303: 94767303
98TMEM67NM_153704.5(TMEM67): c.2002T> C (p.Trp668Arg)single nucleotide variantLikely pathogenicrs386834189GRCh37Chr 8, 94809600: 94809600
99TMEM67NM_153704.5(TMEM67): c.224-2delAdeletionLikely pathogenicrs386834190GRCh37Chr 8, 94768004: 94768004
100TMEM67NM_153704.5(TMEM67): c.2301delT (p.Asp768Ilefs)deletionLikely pathogenicrs386834191GRCh37Chr 8, 94815891: 94815891
101TMEM67NM_153704.5(TMEM67): c.2357G> A (p.Gly786Glu)single nucleotide variantLikely pathogenicrs386834193GRCh37Chr 8, 94817024: 94817024
102TMEM67NM_153704.5(TMEM67): c.2528A> G (p.Tyr843Cys)single nucleotide variantLikely pathogenicrs386834194GRCh37Chr 8, 94821156: 94821156
103TMEM67NM_153704.5(TMEM67): c.2542G> T (p.Glu848Ter)single nucleotide variantLikely pathogenicrs386834195GRCh37Chr 8, 94821170: 94821170
104TMEM67NM_153704.5(TMEM67): c.2557A> T (p.Lys853Ter)single nucleotide variantLikely pathogenicrs386834196GRCh37Chr 8, 94821285: 94821285
105TMEM67NM_153704.5(TMEM67): c.2561dupA (p.Asn854Lysfs)duplicationLikely pathogenicrs386834197GRCh37Chr 8, 94821289: 94821289
106TMEM67NM_153704.5(TMEM67): c.2689_2690insTA (p.Lys897Ilefs)insertionLikely pathogenicrs386834198GRCh37Chr 8, 94822040: 94822041
107TMEM67NM_153704.5(TMEM67): c.2897T> C (p.Leu966Pro)single nucleotide variantLikely pathogenicrs386834199GRCh37Chr 8, 94827665: 94827665
108TMEM67NM_153704.5(TMEM67): c.387T> A (p.Cys129Ter)single nucleotide variantLikely pathogenicrs386834201GRCh37Chr 8, 94770785: 94770785
109TMEM67NM_153704.5(TMEM67): c.579_580delAG (p.Gly195Ilefs)deletionLikely pathogenic, Pathogenicrs386834202GRCh37Chr 8, 94777802: 94777803
110TMEM67NM_153704.5(TMEM67): c.579delA (p.Gly195Aspfs)deletionLikely pathogenicrs386834203GRCh37Chr 8, 94777802: 94777802
111TMEM67NM_153704.5(TMEM67): c.675G> A (p.Trp225Ter)single nucleotide variantLikely pathogenic, Pathogenicrs386834205GRCh37Chr 8, 94784840: 94784840
112TMEM67NM_153704.5(TMEM67): c.734C> T (p.Ser245Phe)single nucleotide variantLikely pathogenicrs386834206GRCh37Chr 8, 94792840: 94792840
113TMEM67NM_153704.5(TMEM67): c.888G> T (p.Trp296Cys)single nucleotide variantLikely pathogenicrs386834208GRCh37Chr 8, 94793120: 94793120
114TMEM231NM_001077416.2(TMEM231): c.823G> A (p.Val275Ile)single nucleotide variantLikely pathogenic, Pathogenicrs397514753GRCh37Chr 16, 75576500: 75576500
115TMEM231NM_001077416.2(TMEM231): c.974A> C (p.Gln325Pro)single nucleotide variantPathogenicrs397514754GRCh38Chr 16, 75540130: 75540130
116CC2D2ACC2D2A, 1762C-Tsingle nucleotide variantPathogenic
117CEP290NM_025114.3(CEP290): c.3175dupA (p.Ile1059Asnfs)duplicationPathogenicrs62640570GRCh37Chr 12, 88487681: 88487681

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 14)
idNameGO IDScoreTop Affiliating Genes
1centriolar satelliteGO:003445110.7C2CD3, CEP290
2nonmotile primary ciliumGO:003151310.7NPHP4, RPGRIP1
3ciliary baseGO:009754610.7INVS, NPHP1, NPHP4
4bicellular tight junctionGO:000592310.6NPHP1, NPHP4, RPGRIP1L
5ciliary membraneGO:006017010.5ARL13B, TCTN2, TMEM231, TMEM67
6photoreceptor connecting ciliumGO:003239110.3CEP290, NPHP1, NPHP4, RPGRIP1
7axonemeGO:000593010.3ARL13B, RPGRIP1, RPGRIP1L, WDPCP
8ciliary basal bodyGO:003606410.1B9D1, B9D2, C2CD3, MKS1, PKHD1, RPGRIP1L
9ciliumGO:00059299.9ARL13B, NPHP1, RPGRIP1, RPGRIP1L, TMEM216
10TCTN-B9D complexGO:00360389.8B9D1, B9D2, CC2D2A, CEP290, MKS1, TCTN1
11ciliary transition zoneGO:00358699.6B9D1, B9D2, CC2D2A, CEP290, MKS1, NPHP1
12cytoskeletonGO:00058569.5CC2D2A, NPHP1, NPHP4, TCTN1, TCTN2, TMEM216
13centrosomeGO:00058139.4B9D1, B9D2, C2CD3, CEP290, CSPP1, MKS1
14cytosolGO:00058298.8B9D1, B9D2, C2CD3, CC2D2A, CEP290, MKS1

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

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1head developmentGO:006032210.8MKS1, RPGRIP1L
2visual behaviorGO:000763210.8NPHP1, NPHP4
3neural tube patterningGO:002153210.7ARL13B, RPGRIP1L
4establishment or maintenance of cell polarityGO:000716310.7CEP290, RPGRIP1L
5eye photoreceptor cell developmentGO:004246210.6CEP290, RPGRIP1
6telencephalon developmentGO:002153710.6RPGRIP1L, TCTN1
7regulation of smoothened signaling pathwayGO:000858910.4C2CD3, MKS1, RPGRIP1L, TCTN1
8nonmotile primary cilium assemblyGO:003505810.3ARL13B, C2CD3, CEP290, MKS1
9retina development in camera-type eyeGO:006004110.2CEP290, NPHP1, NPHP4, RPGRIP1
10embryonic digit morphogenesisGO:004273310.2B9D1, C2CD3, MKS1, WDPCP
11camera-type eye developmentGO:004301010.2B9D1, RPGRIP1L, WDPCP
12smoothened signaling pathwayGO:000722410.2ARL13B, B9D1, CC2D2A, TCTN2, TMEM231, WDPCP
13determination of left/right symmetryGO:000736810.1ARL13B, MKS1, RPGRIP1L
14in utero embryonic developmentGO:000170110.1B9D1, C2CD3, RPGRIP1L, TCTN1
15kidney developmentGO:00018229.7INVS, PKHD1, RPGRIP1L, WDPCP
16single organismal cell-cell adhesionGO:00163379.7NPHP1, NPHP4, PKHD1
17cilium morphogenesisGO:00602719.6B9D1, CC2D2A, CEP290, MKS1, RPGRIP1L, TCTN1
18cilium assemblyGO:00423849.0ARL13B, B9D1, B9D2, C2CD3, CC2D2A, CEP290
19organelle organizationGO:00069968.7ARL13B, B9D1, B9D2, C2CD3, CC2D2A, CEP290

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

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:00055158.0ARL13B, B9D1, B9D2, C2CD3, CC2D2A, CEP290

Sources for Meckel Syndrome 1

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28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet