MCID: MCK022
MIFTS: 52

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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Sources:
45OMIM, 10diseasecard, 22GTR, 9Disease Ontology, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 47Orphanet, 27ICD9CM, 61UMLS via Orphanet, 26ICD10 via Orphanet
See all sources

Meckel Syndrome 1, Aliases & Descriptions:

Name: Meckel Syndrome 1 45 10
Meckel Syndrome 9 41 20 21 47
Meckel-Gruber Syndrome 9 41 21 47
Meckel Syndrome, Type 1 45 22
Meckel Gruber Syndrome 41 22
 
Mks 41 21
Dysencephalia Splanchnocystica 21
Dysencephalia Splachnocystica 41
Gruber Syndrome 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
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:

OMIM45 249000
Disease Ontology9 DOID:0050778
ICD9CM27 753.10
Orphanet47 564
UMLS via Orphanet61 C0265215
ICD10 via Orphanet26 Q61.9

Summaries for Meckel Syndrome 1

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OMIM:45 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 bardet-biedl syndrome and polydactyly, 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). Affiliated tissues include kidney, liver and brain, and related mouse phenotypes are skeleton and liver/biliary system.

Disease Ontology:9 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.

NIH Rare Diseases:41 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

Related Diseases for Meckel Syndrome 1

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Diseases in the Meckel Syndrome 1 family:

Meckel Syndrome, Type 11 Meckel Syndrome 7
Meckel Syndrome 6 Meckel Syndrome 3
Meckel Syndrome 2 Meckel Syndrome 4
Meckel Syndrome 8 Meckel Syndrome 5
Meckel Syndrome 9 Meckel Syndrome 10
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
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 74)
idRelated DiseaseScoreTop Affiliating Genes
1bardet-biedl syndrome30.4CEP290, MKS1
2polydactyly29.2B9D2, B9D1, MKS1, TMEM67, TMEM231, CC2D2A
3meckel syndrome 210.5
4meckel syndrome 310.4
5meckel syndrome 910.4
6meckel syndrome 710.4
7meckel syndrome 410.4
8meckel syndrome 810.4
9meckel syndrome 610.4
10meckel syndrome 510.4
11meckel syndrome 1010.4
12joubert syndrome 210.4TMEM216
13microcytic anemia10.3
14bardet-biedl syndrome 1410.3CEP290
15nephronophthisis 1, juvenile10.3
16hypoplastic left heart syndrome10.3
17meningocele10.3
18dwarfism10.3
19cor triatriatum10.3
20heterotaxy10.3
21meckel syndrome, type 1110.3
22menkes disease10.3
23hiatus hernia10.3
24bardet-biedl syndrome 1510.3WDPCP
25neural tube defects10.2
26encephalocele10.2
27mks1-related meckel syndrome10.2
28tmem216-related meckel syndrome10.2
29tmem67-related meckel syndrome10.2
30cep290-related meckel syndrome10.2
31rpgrip1l-related meckel syndrome10.2
32cc2d2a-related meckel syndrome10.2
33nphp3-related meckel syndrome10.2
34b9d1-related meckel syndrome10.2
35b9d2-related meckel syndrome10.2
36tctn2-related meckel syndrome10.2
37smith-lemli-opitz syndrome10.1
38hepatitis10.1
39mckusick-kaufman syndrome10.1
40leukemia10.1
41doid:401910.1TMEM216, TMEM231
42apraxia10.0TMEM231, TMEM216
43coach syndrome10.0RPGRIP1L, CC2D2A, TMEM67
44mulibrey nanism10.0
45caroli disease10.0
46choledochal cyst10.0
47tuberous sclerosis10.0
48asphyxiating thoracic dystrophy10.0
49oligohydramnios10.0
50cerebellar hypoplasia10.0

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:

249000

Clinical features from OMIM:

249000

Symptoms:

 47 (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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Drug clinical trials:

Search ClinicalTrials for Meckel Syndrome 1

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 Syndrome20 TMEM67
2 Meckel-Gruber Syndrome22
3 Meckel Syndrome Type 122

Anatomical Context for Meckel Syndrome 1

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MalaCards organs/tissues related to Meckel Syndrome 1:

31
Kidney, Liver, Brain, Lung, Tongue, Spleen, Bone, Testes, Eye, Heart, Uterus, Placenta

Animal Models for Meckel Syndrome 1 or affiliated genes

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Publications for Meckel Syndrome 1

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Articles related to Meckel Syndrome 1:

idTitleAuthorsYear
1
Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins. (19208769)
2009

Variations for Meckel Syndrome 1

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Clinvar genetic disease variations for Meckel Syndrome 1:

6 (show all 117)
id Gene Variation Type Significance SNP ID Assembly Location
1RPGRIP1LNM_001127897.1(RPGRIP1L): c.394A> T (p.Arg132Ter)single nucleotide variantPathogenicrs121918201GRCh37Chr 16, 53726113: 53726113
2RPGRIP1LNM_001127897.1(RPGRIP1L): c.1033C> T (p.Gln345Ter)single nucleotide variantPathogenicrs121918202GRCh37Chr 16, 53705492: 53705492
3RPGRIP1LNM_001127897.1(RPGRIP1L): c.2614C> T (p.Gln872Ter)single nucleotide variantPathogenicrs121918203GRCh37Chr 16, 53679606: 53679606
4CC2D2ANM_001080522.2(CC2D2A): c.394C> T (p.Arg132Ter)single nucleotide variantPathogenicGRCh38Chr 4, 15502879: 15502879
5CC2D2ANM_001080522.2(CC2D2A): c.4384T> C (p.Trp1462Arg)single nucleotide variantLikely pathogenicGRCh37Chr 4, 15597777: 15597777
6CC2D2ANM_001080522.2(CC2D2A): c.4407C> G (p.Ser1469Arg)single nucleotide variantLikely pathogenicGRCh38Chr 4, 15596177: 15596177
7CEP290NM_025114.3(CEP290): c.4621delA (p.Thr1541Profs)deletionPathogenicGRCh38Chr 12, 88084669: 88084669
8TMEM67NM_001142301.1(TMEM67): c.505G> A (p.Gly169Arg)single nucleotide variantLikely pathogenicGRCh38Chr 8, 93780626: 93780626
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
14TMEM67TMEM67, 2-BP DEL, 383ACdeletionPathogenic
15TMEM67TMEM67, 1-BP DEL, 647AdeletionPathogenic
16TMEM67TMEM67, IVS8, A-G, -2single nucleotide variantPathogenic
17TMEM67NM_001142301.1(TMEM67): c.884A> C (p.Gln295Pro)single nucleotide variantPathogenicrs137853106GRCh37Chr 8, 94794684: 94794684
18TMEM67TMEM67, IVS15, G-A, +1single nucleotide variantPathogenic
19TMEM67NM_001142301.1(TMEM67): c.379A> T (p.Arg127Ter)single nucleotide variantPathogenicrs137853108GRCh37Chr 8, 94777845: 94777845
20MKS1MKS1, 29-BP DELdeletionPathogenic
21MKS1MKS1, 5-BP INS, NT50insertionPathogenic
22MKS1MKS1, IVS1, T-C, +2single nucleotide variantPathogenic
23MKS1MKS1, IVS11DS, G-A, +1single nucleotide variantPathogenic
24MKS1MKS1, 417G-Asingle nucleotide variantPathogenic
25TMEM216NM_001173990.2(TMEM216): c.218G> A (p.Arg73His)single nucleotide variantPathogenicrs201108965GRCh37Chr 11, 61161437: 61161437
26TMEM216NM_001173990.2(TMEM216): c.341T> G (p.Leu114Arg)single nucleotide variantLikely pathogenic, Pathogenicrs386833831GRCh37Chr 11, 61165357: 61165357
27TMEM216NM_001173990.2(TMEM216): c.230G> C (p.Gly77Ala)single nucleotide variantLikely pathogenic, Pathogenicrs386833830GRCh37Chr 11, 61165246: 61165246
28B9D2B9D2, SER101ARGsingle nucleotide variantPathogenic
29TCTN2TCTN2, IVS13, A-G, -2single nucleotide variantPathogenic
30B9D1B9D1, 505, T-C, +2single nucleotide variantPathogenic
31B9D1B9D1, 1.71-MB DELdeletionPathogenic
32CC2D2ANM_001080522.2(CC2D2A): c.1339delG (p.Ala447Argfs)deletionLikely pathogenicrs386833745GRCh37Chr 4, 15529259: 15529259
33CC2D2ANM_001080522.2(CC2D2A): c.1537T> A (p.Trp513Arg)single nucleotide variantLikely pathogenicrs386833746GRCh37Chr 4, 15534886: 15534886
34CC2D2ANM_001080522.2(CC2D2A): c.2486+1G> Csingle nucleotide variantLikely pathogenicrs386833747GRCh37Chr 4, 15554929: 15554929
35CC2D2ANM_001080522.2(CC2D2A): c.2773C> T (p.Arg925Ter)single nucleotide variantLikely pathogenicrs386833748GRCh37Chr 4, 15559074: 15559074
36CC2D2ANM_001080522.2(CC2D2A): c.3084delG (p.Lys1029Argfs)deletionLikely pathogenicrs386833749GRCh37Chr 4, 15565047: 15565047
37CC2D2ANM_001080522.2(CC2D2A): c.3145C> G (p.Arg1049Gly)single nucleotide variantLikely pathogenicrs386833750GRCh37Chr 4, 15565108: 15565108
38CC2D2ANM_001080522.2(CC2D2A): c.3289delG (p.Val1097Phefs)deletionLikely pathogenicrs386833751GRCh37Chr 4, 15569300: 15569300
39CC2D2ANM_001080522.2(CC2D2A): c.3341C> T (p.Thr1114Met)single nucleotide variantLikely pathogenicrs386833752GRCh37Chr 4, 15569352: 15569352
40CC2D2ANM_001080522.2(CC2D2A): c.3399-3C> Asingle nucleotide variantLikely pathogenicrs386833753GRCh37Chr 4, 15570913: 15570913
41CC2D2ANM_001080522.2(CC2D2A): c.3522_3523insTG (p.His1175Cysfs)insertionLikely pathogenicrs386833754GRCh37Chr 4, 15572047: 15572048
42CC2D2ANM_001080522.2(CC2D2A): c.3544T> C (p.Trp1182Arg)single nucleotide variantLikely pathogenicrs386833755GRCh37Chr 4, 15572069: 15572069
43CC2D2ANM_001080522.2(CC2D2A): c.3584delT (p.Phe1195Serfs)deletionLikely pathogenicrs386833756GRCh37Chr 4, 15572109: 15572109
44CC2D2ANM_001080522.2(CC2D2A): c.3774dupT (p.Glu1259Terfs)duplicationLikely pathogenicrs386833757GRCh37Chr 4, 15581593: 15581594
45CC2D2ANM_001080522.2(CC2D2A): c.3893T> A (p.Val1298Asp)single nucleotide variantLikely pathogenicrs386833758GRCh37Chr 4, 15581712: 15581712
46CC2D2ANM_001080522.2(CC2D2A): c.3975_3975+3delAGTAdeletionLikely pathogenicrs386833759GRCh37Chr 4, 15581794: 15581797
47CC2D2ANM_001080522.2(CC2D2A): c.4179+1delGdeletionLikely pathogenicrs386833760GRCh37Chr 4, 15589553: 15589553
48CC2D2ANM_001080522.2(CC2D2A): c.4179delG (p.Gly1394Valfs)deletionLikely pathogenicrs386833761GRCh37Chr 4, 15589552: 15589552
49CC2D2ANM_001080522.2(CC2D2A): c.4496+2T> Asingle nucleotide variantLikely pathogenicrs386833762GRCh37Chr 4, 15599090: 15599090
50CC2D2ANM_001080522.2(CC2D2A): c.517C> T (p.Arg173Ter)single nucleotide variantLikely pathogenicrs386833763GRCh37Chr 4, 15511840: 15511840
51CC2D2ANM_001080522.2(CC2D2A): c.685_687delGAA (p.Glu229del)deletionLikely pathogenicrs386833764GRCh37Chr 4, 15513014: 15513016
52CC2D2ANM_001080522.2(CC2D2A): c.834delG (p.Leu279Cysfs)deletionLikely pathogenicrs386833765GRCh37Chr 4, 15516446: 15516446
53TMEM216NM_001173990.2(TMEM216): c.253C> T (p.Arg85Ter)single nucleotide variantLikely pathogenicrs11230683GRCh37Chr 11, 61165269: 61165269
54RPGRIP1LNM_001127897.1(RPGRIP1L): c.1829A> C (p.His610Pro)single nucleotide variantLikely pathogenicrs386833997GRCh37Chr 16, 53686770: 53686770
55RPGRIP1LNM_001127897.1(RPGRIP1L): c.723_726delTGAA (p.Asn241Lysfs)deletionLikely pathogenicrs386833998GRCh37Chr 16, 53720395: 53720398
56MKS1NM_001165927.1(MKS1): c.994+1G> Asingle nucleotide variantLikely pathogenicrs199874059GRCh37Chr 17, 56288019: 56288019
57MKS1NM_001165927.1(MKS1): c.1018C> G (p.Gln340Glu)single nucleotide variantLikely pathogenicrs386834041GRCh37Chr 17, 56285921: 56285921
58MKS1NM_001165927.1(MKS1): c.1018C> T (p.Gln340Ter)single nucleotide variantLikely pathogenicrs386834041GRCh37Chr 17, 56285921: 56285921
59MKS1NM_001165927.1(MKS1): c.1377+2delTdeletionLikely pathogenicrs386834042GRCh37Chr 17, 56284444: 56284444
60MKS1NM_017777.3(MKS1): c.1408-35_1408-7deldeletionPathogenicrs386834043GRCh37Chr 17, 56283915: 56283943
61MKS1NM_001165927.1(MKS1): c.1420_1423dupGGCA (p.Thr475Argfs)duplicationLikely pathogenicrs386834044GRCh37Chr 17, 56283863: 56283866
62MKS1NM_001165927.1(MKS1): c.1460G> A (p.Arg487Lys)single nucleotide variantLikely pathogenicrs386834045GRCh37Chr 17, 56283826: 56283826
63MKS1NM_001165927.1(MKS1): c.154_160delACTGCCA (p.Thr52Valfs)deletionLikely pathogenicrs386834046GRCh37Chr 17, 56295981: 56295987
64MKS1NM_001165927.1(MKS1): c.362_363delCT (p.Ser121Terfs)deletionLikely pathogenicrs386834047GRCh37Chr 17, 56293473: 56293474
65MKS1NM_001165927.1(MKS1): c.387G> A (p.Glu129=)single nucleotide variantLikely pathogenicrs386834048GRCh37Chr 17, 56293449: 56293449
66MKS1NM_001165927.1(MKS1): c.394C> T (p.Gln132Ter)single nucleotide variantLikely pathogenicrs386834049GRCh37Chr 17, 56292193: 56292193
67MKS1NM_001165927.1(MKS1): c.442C> T (p.Arg148Ter)single nucleotide variantLikely pathogenicrs386834050GRCh37Chr 17, 56292145: 56292145
68MKS1NM_001165927.1(MKS1): c.485+1G> Asingle nucleotide variantLikely pathogenicrs201933838GRCh37Chr 17, 56292101: 56292101
69MKS1NM_017777.3(MKS1): c.51_55dupCCGGG (p.Asp19Alafs)duplicationLikely pathogenicrs386834051GRCh37Chr 17, 56296537: 56296541
70MKS1NM_001165927.1(MKS1): c.50+313T> Csingle nucleotide variantLikely pathogenicrs386834052GRCh37Chr 17, 56296510: 56296510
71MKS1NM_001165927.1(MKS1): c.928G> A (p.Val310Ile)single nucleotide variantLikely pathogenicrs386834053GRCh37Chr 17, 56288341: 56288341
72CEP290NM_025114.3(CEP290): c.1219_1220delAT (p.Met407Glufs)deletionLikely pathogenicrs386834148GRCh37Chr 12, 88514913: 88514914
73CEP290NM_025114.3(CEP290): c.1451delA (p.Lys484Argfs)deletionLikely pathogenicrs386834149GRCh37Chr 12, 88513962: 88513962
74CEP290NM_025114.3(CEP290): c.180+2T> Asingle nucleotide variantLikely pathogenicrs386834150GRCh37Chr 12, 88534731: 88534731
75CEP290NM_025114.3(CEP290): c.1860_1861delAA (p.Asp622Phefs)deletionLikely pathogenicrs386834151GRCh37Chr 12, 88508923: 88508924
76CEP290NM_025114.3(CEP290): c.1984C> T (p.Gln662Ter)single nucleotide variantLikely pathogenicrs386834152GRCh37Chr 12, 88508265: 88508265
77CEP290NM_025114.3(CEP290): c.289G> T (p.Glu97Ter)single nucleotide variantLikely pathogenicrs386834153GRCh37Chr 12, 88532930: 88532930
78CEP290NM_025114.3(CEP290): c.3175delA (p.Ile1059Terfs)deletionLikely pathogenicrs386834154GRCh37Chr 12, 88487681: 88487681
79CEP290NM_025114.3(CEP290): c.3446_3447delAA (p.Lys1149Serfs)deletionLikely pathogenicrs386834155GRCh37Chr 12, 88486472: 88486473
80CEP290NM_025114.3(CEP290): c.381_382delAGinsT (p.Lys127Asnfs)indelLikely pathogenicrs386834156GRCh37Chr 12, 88530479: 88530480
81CEP290NM_025114.3(CEP290): c.384_387delTAGA (p.Asp128Glufs)deletionLikely pathogenicrs386834157GRCh37Chr 12, 88530474: 88530477
82CEP290NM_025114.3(CEP290): c.5493delA (p.Ala1832Profs)deletionLikely pathogenicrs386834158GRCh37Chr 12, 88471567: 88471567
83CEP290NM_025114.3(CEP290): c.5850delT (p.Phe1950Leufs)deletionLikely pathogenicrs386834159GRCh37Chr 12, 88465563: 88465563
84TMEM67NM_001142301.1(TMEM67): c.803T> C (p.Leu268Ser)single nucleotide variantLikely pathogenicrs386834180GRCh37Chr 8, 94793953: 94793953
85TMEM67NM_001142301.1(TMEM67): c.822+1delGdeletionLikely pathogenicrs386834181GRCh37Chr 8, 94793973: 94793973
86TMEM67NM_001142301.1(TMEM67): c.1076G> A (p.Arg359Gln)single nucleotide variantLikely pathogenicrs386834182GRCh37Chr 8, 94798481: 94798481
87TMEM67NM_001142301.1(TMEM67): c.1079G> T (p.Arg360Leu)single nucleotide variantLikely pathogenicrs386834183GRCh37Chr 8, 94798484: 94798484
88TMEM67NM_001142301.1(TMEM67): c.1093G> C (p.Asp365His)single nucleotide variantLikely pathogenicrs386834184GRCh37Chr 8, 94798498: 94798498
89TMEM67NM_001142301.1(TMEM67): c.1170-1G> Csingle nucleotide variantLikely pathogenicrs386834185GRCh37Chr 8, 94800071: 94800071
90TMEM67NM_001142301.1(TMEM67): c.1295_1296delAT (p.Tyr432Terfs)deletionLikely pathogenicrs386834186GRCh37Chr 8, 94803510: 94803511
91TMEM67NM_153704.5(TMEM67): c.161A> G (p.Tyr54Cys)single nucleotide variantLikely pathogenicrs386834188GRCh37Chr 8, 94767303: 94767303
92TMEM67NM_001142301.1(TMEM67): c.1759T> C (p.Trp587Arg)single nucleotide variantLikely pathogenicrs386834189GRCh37Chr 8, 94809600: 94809600
93TMEM67NM_001142301.1(TMEM67): c.-62+639delAdeletionLikely pathogenicrs386834190GRCh37Chr 8, 94768004: 94768004
94TMEM67NM_001142301.1(TMEM67): c.2058delT (p.Asp687Ilefs)deletionLikely pathogenicrs386834191GRCh37Chr 8, 94815891: 94815891
95TMEM67NM_001142301.1(TMEM67): c.2079+2dupTduplicationLikely pathogenicrs386834192GRCh37Chr 8, 94815914: 94815915
96TMEM67NM_001142301.1(TMEM67): c.2114G> A (p.Gly705Glu)single nucleotide variantLikely pathogenicrs386834193GRCh37Chr 8, 94817024: 94817024
97TMEM67NM_001142301.1(TMEM67): c.2285A> G (p.Tyr762Cys)single nucleotide variantLikely pathogenicrs386834194GRCh37Chr 8, 94821156: 94821156
98TMEM67NM_001142301.1(TMEM67): c.2299G> T (p.Glu767Ter)single nucleotide variantLikely pathogenicrs386834195GRCh37Chr 8, 94821170: 94821170
99TMEM67NM_001142301.1(TMEM67): c.2314A> T (p.Lys772Ter)single nucleotide variantLikely pathogenicrs386834196GRCh37Chr 8, 94821285: 94821285
100TMEM67NM_001142301.1(TMEM67): c.2318dupA (p.Asn773Lysfs)duplicationLikely pathogenicrs386834197GRCh37Chr 8, 94821289: 94821290
101TMEM67NM_001142301.1(TMEM67): c.2446_2447insTA (p.Lys816Ilefs)insertionLikely pathogenicrs386834198GRCh37Chr 8, 94822040: 94822041
102TMEM67NM_001142301.1(TMEM67): c.2654T> C (p.Leu885Pro)single nucleotide variantLikely pathogenicrs386834199GRCh37Chr 8, 94827665: 94827665
103TMEM67NM_001142301.1(TMEM67): c.6_7delAC (p.Leu3Valfs)deletionLikely pathogenicrs386834200GRCh37Chr 8, 94770781: 94770782
104TMEM67NM_001142301.1(TMEM67): c.10T> A (p.Ser4Thr)single nucleotide variantLikely pathogenicrs386834201GRCh37Chr 8, 94770785: 94770785
105TMEM67NM_001142301.1(TMEM67): c.336_337delAG (p.Gly114Ilefs)deletionLikely pathogenicrs386834202GRCh37Chr 8, 94777802: 94777803
106TMEM67NM_001142301.1(TMEM67): c.336delA (p.Gly114Aspfs)deletionLikely pathogenicrs386834203GRCh37Chr 8, 94777802: 94777802
107TMEM67NM_001142301.1(TMEM67): c.405delA (p.Val136Leufs)deletionLikely pathogenicrs386834204GRCh37Chr 8, 94777871: 94777871
108TMEM67NM_001142301.1(TMEM67): c.408+2T> Gsingle nucleotide variantLikely pathogenicrs199821258GRCh37Chr 8, 94777876: 94777876
109TMEM67NM_001142301.1(TMEM67): c.432G> A (p.Trp144Ter)single nucleotide variantLikely pathogenicrs386834205GRCh37Chr 8, 94784840: 94784840
110TMEM67NM_001142301.1(TMEM67): c.491C> T (p.Ser164Phe)single nucleotide variantLikely pathogenicrs386834206GRCh37Chr 8, 94792840: 94792840
111TMEM67NM_001142301.1(TMEM67): c.645G> T (p.Trp215Cys)single nucleotide variantLikely pathogenicrs386834208GRCh37Chr 8, 94793120: 94793120
112TMEM67NM_001142301.1(TMEM67): c.1332+1G> Asingle nucleotide variantLikely pathogenicrs386834187GRCh37Chr 8, 94803548: 94803548
113TMEM67NM_001142301.1(TMEM67): c.627-2A> Gsingle nucleotide variantLikely pathogenicrs386834207GRCh37Chr 8, 94793100: 94793100
114TMEM231NM_001077416.2(TMEM231): c.823G> A (p.Val275Ile)single nucleotide variantPathogenicrs397514753GRCh37Chr 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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Compounds 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:

idNameGO IDScoreTop Affiliating Genes
1ciliumGO:00059299.7RPGRIP1L, TMEM216
2ciliary basal bodyGO:00360649.5RPGRIP1L, MKS1, B9D2, B9D1
3ciliary transition zoneGO:00358699.4B9D1, TMEM231, CC2D2A
4ciliary membraneGO:00601709.2TMEM67, TMEM231
5axonemeGO:00059308.9RPGRIP1L, RPGRIP1, WDPCP
6cytoskeletonGO:00058568.7WDPCP, CC2D2A, TCTN2, TMEM216
7centrosomeGO:00058138.5B9D1, B9D2, MKS1, TMEM67, CEP290, RPGRIP1L
8cytoplasmGO:00057377.7B9D1, MKS1, TMEM216, TCTN2, CEP290, CC2D2A
9TCTN-B9D complexGO:00360387.1CC2D2A, B9D1, B9D2, MKS1, TMEM67, TMEM231

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1establishment or maintenance of cell polarityGO:00071639.8RPGRIP1L, CEP290
2camera-type eye developmentGO:00430109.8B9D1, RPGRIP1L
3regulation of protein localizationGO:00328809.4WDPCP, B9D1
4eye photoreceptor cell developmentGO:00424629.3RPGRIP1, CEP290
5retina development in camera-type eyeGO:00600419.3RPGRIP1, CEP290
6smoothened signaling pathwayGO:00072249.0B9D1, TMEM231, TCTN2, CC2D2A
7cilium morphogenesisGO:00602717.3B9D1, MKS1, TMEM67, TMEM216, TCTN2, CEP290
8cilium assemblyGO:00423846.8RPGRIP1L, B9D1, B9D2, CC2D2A, CEP290, TCTN2

Products for genes affiliated with Meckel Syndrome 1

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  • Antibodies
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Sources for Meckel Syndrome 1

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet