MCID: MCK022
MIFTS: 45

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 49 11 67 24
Meckel Syndrome 10 45 22 23 12 51 24
Meckel-Gruber Syndrome 10 23 51 67 65
Dysencephalia Splanchnocystica 23 67
Meckel Gruber Syndrome 45 24
Gruber Syndrome 45 67
 
Mks 45 23
Dysencephalia Splachnocystica 45
Meckel Syndrome Type 1 65
Mks1 67
Mes 67

Characteristics:

Orphanet epidemiological data:

51
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

HPO:

61
meckel syndrome 1:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 249000
Disease Ontology10 DOID:0050778
ICD9CM29 753.1, 753.10
Orphanet51 564
UMLS via Orphanet66 C0265215
ICD10 via Orphanet28 Q61.9
UMLS65 C0311245, C3714506, C0265215

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 bardet-biedl syndrome 13, 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 respiratory system and liver/biliary system.

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

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.

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.

Wikipedia:68 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 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 141)
idRelated DiseaseScoreTop Affiliating Genes
1nephronophthisis 1, juvenile31.7NPHP1, NPHP4
2bardet-biedl syndrome 1331.1ARL13B, B9D1, B9D2, C2CD3, CC2D2A, CEP290
3meckel syndrome 312.5
4meckel syndrome 212.5
5meckel syndrome 412.4
6meckel syndrome 612.4
7meckel syndrome 512.4
8meckel syndrome 912.4
9meckel syndrome 1212.4
10meckel syndrome 812.4
11meckel syndrome 1012.4
12meckel syndrome 712.4
13meckel syndrome 1112.4
14tctn2-related meckel syndrome12.3
15tmem231-related meckel syndrome12.3
16b9d1-related meckel syndrome12.3
17b9d2-related meckel syndrome12.3
18kif14-related meckel syndrome12.2
19cc2d2a-related meckel syndrome12.2
20cep290-related meckel syndrome12.2
21mks1-related meckel syndrome12.2
22nphp3-related meckel syndrome12.2
23rpgrip1l-related meckel syndrome12.2
24tmem216-related meckel syndrome12.2
25tmem67-related meckel syndrome12.2
26bardet-biedl syndrome11.7
27menkes disease11.6
28joubert syndrome 111.6
29ciliopathy11.4
30encephalocele11.4
31nphp3-related meckel-like syndrome11.3
32multiple sclerosis, disease progression, modifier of11.2
33mckusick-kaufman syndrome11.2
34malignant spiradenoma11.2
35corneal dystrophy, congenital stromal10.6CEP290, TMEM67
36huntington disease-like 310.5CC2D2A, RPGRIP1L, TMEM67
37cervix uteri carcinoma in situ10.5PKHD1, TMEM67
38juberg-hayward syndrome10.5NPHP1, RPGRIP1L, TMEM237
39nephronophthisis 410.5NPHP1, NPHP4
40pancreatic agenesis10.4NPHP1, PKHD1, TMEM67
41panic disorder 210.4NPHP1, NPHP4
42chronic gonococcal salpingitis10.4CEP290, NPHP1, NPHP4, TMEM67
43primary hyperoxaluria10.4NPHP1, NPHP4, PKHD1
44glycogen storage disease ix10.4ARL13B, CSPP1, NPHP4, RPGRIP1L
45craniofacial microsomia10.4B9D2, CC2D2A, PKHD1, RPGRIP1L, TMEM67
46orofaciodigital syndrome vii10.4ARL13B, CEP290, RPGRIP1L, TMEM216, TMEM231
47medullary cystic kidney disease 210.4NPHP1, NPHP4
48cogan-reese syndrome10.4NPHP1, NPHP4
49isobutyryl-coa dehydrogenase deficiency10.4MKS1, TMEM216
50associative agnosia10.3ARL13B, CC2D2A, NPHP1, TMEM216, TMEM231

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:

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

Drugs & Therapeutics for Meckel Syndrome 1

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

(show all 14)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
DopamineapprovedPhase 3308462-31-7, 51-61-6681
Synonyms:
(3H)-Dopamine
.Beta.-(3,4-Dihydroxyphenyl)ethylamine hydrochloride
.alpha.-(3,4-Dihydroxyphenyl)-.beta.-aminoethane
1,2-Benzenediol, 4-(2-aminoethyl)- (9CI)
1,2-Benzenediol, 4-(2-aminoethyl)-, hydrochloride
1,2-Benzenediol, 4-(2-aminoethyl)-, labeled with tritium
153C5321-5FEE-4B0B-8925-F388F0EEEBD1
2-(3,4-Dihydroxyphenyl)ethylamine
2-(3,4-dihydroxyphenyl)ethylamine
2-benzenediol
3,4-Dihydroxyphenethylamine
3,4-Dihydroxyphenethylamine hydrochloride
3,4-Dihydroxyphenylethylamine
3,4-dihydroxyphenethylamine
3-Hydroxtyramine
3-Hydroxytyramine
3-Hydroxytyramine Hydrobromide
3-Hydroxytyramine hydrochloride
4-(2-Aminoethyl)-1,
4-(2-Aminoethyl)-1,2-benzenediol
4-(2-Aminoethyl)-1,2-bezenediol
4-(2-Aminoethyl)-Pyrocatechol
4-(2-Aminoethyl)benzene-1,2-diol
4-(2-Aminoethyl)catechol
4-(2-Aminoethyl)pyrocatechol
4-(2-Aminoethyl)pyrocatechol hydrochloride
4-(2-aminoethyl)-pyrocatechol
50444-17-2
51-61-6
62-31-7 (HYDROCHLORIDE)
AC1L19S5
AC1Q54AX
AC1Q54AY
AKOS003790978
ASL 279
BIDD:ER0506
BPBio1_001123
BSPBio_001932
Biomol-NT_000001
C03758
CHEBI:18243
CHEMBL59
CID681
D07870
DB00988
Deoxyepinephrine
DivK1c_000780
Dopamin
Dopamina
Dopamina [INN-Spanish]
Dopamine
Dopamine (INN)
Dopamine (USAN)(*hydrochloride*)
Dopamine Hcl
Dopamine Hydrochloride
Dopamine [INN:BAN]
Dopaminum
Dopaminum [INN-Latin]
Dopastat
Dophamine
Dynatra
EINECS 200-110-0
HSDB 3068
Hydroxytyramin
Hydroxytyramine
IDI1_000780
IP 498
Intropin
Intropin [*hydrochloride*]
 
KBio1_000780
KBio2_001492
KBio2_002388
KBio2_002484
KBio2_004060
KBio2_004956
KBio2_005052
KBio2_006628
KBio2_007524
KBio2_007620
KBio3_001152
KBio3_002867
KBio3_002962
KBioGR_001129
KBioGR_002388
KBioGR_002484
KBioSS_001492
KBioSS_002393
KBioSS_002491
KW-3-060
L-DOPAMINE
L000232
LDP
LS-159
Lopac-H-8502
Lopac0_000586
Medopa (TN)
MolPort-001-641-000
NCGC00015519-01
NCGC00015519-08
NCGC00096050-01
NCGC00096050-02
NCGC00096050-03
NCGC00096050-04
NCGC00096050-05
NINDS_000780
NSC 173182
NSC169105
NSC173182
Oprea1_088821
Oxytyramine
Pyrocatechol, 4-(2-aminoethyl)- (8CI)
Pyrocatechol, 4-(2-aminoethyl)-, hydrochloride
Revimine
Revivan
SPBio_001205
SPECTRUM1505155
ST048774
STK301601
Spectrum2_001023
Spectrum3_000406
Spectrum4_000525
Spectrum5_000945
Spectrum_001012
UNII-VTD58H1Z2X
UPCMLD0ENAT5885989:001
a-(3,4-Dihydroxyphenyl)-b-aminoethane
alpha-(3,4-Dihydroxyphenyl)-beta-aminoethane
cMAP_000036
cMAP_000065
dopamine
hydroxytyramine
intropin
m-Hydroxytyramine hydrochloride
nchembio.105-comp9
nchembio.107-comp4
nchembio.284-comp1
nchembio.78-comp16
nchembio.89-comp3
nchembio705-8
nchembio801-comp8
2Serotonin 5-HT2 Receptor AntagonistsPhase 3168
3
SerotoninPhase 3314750-67-95202
Synonyms:
3-(2-Aminoethyl)-1H-indol-5-ol
3-(2-Aminoethyl)indol-5-ol
3-(b-Aminoethyl)-5-hydroxyindole
5-HT
5-HTA
5-Hydroxy-3-(b-aminoethyl)indole
 
5-Hydroxy-tryptamine
5-Hydroxyltryptamine
5-Hydroxytriptamine
5-Hydroxytryptamine
Antemovis
DS substance
Enteramin
Enteramine
4Serotonin AgentsPhase 32668
5Serotonin AntagonistsPhase 31175
6Tranquilizing AgentsPhase 33597
7Psychotropic DrugsPhase 35501
8Neurotransmitter AgentsPhase 314795
9Dopamine AgentsPhase 33084
10Central Nervous System DepressantsPhase 310016
11Dopamine AntagonistsPhase 3927
12Dopamine D2 Receptor AntagonistsPhase 3258
13Antipsychotic AgentsPhase 32130
14Paliperidone PalmitatePhase 3140

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

Anatomical Context for Meckel Syndrome 1

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MalaCards organs/tissues related to Meckel Syndrome 1:

33
Kidney, Liver, Brain, Tongue, Lung, 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:00053889.9ARL13B, B9D2, CEP290, MKS1, PKHD1, RPGRIP1L
2MP:00053709.9B9D1, B9D2, CEP290, MKS1, PKHD1, RPGRIP1L
3MP:00053819.6B9D1, B9D2, CC2D2A, MKS1, PKHD1, TCTN2
4MP:00053809.5ARL13B, B9D1, C2CD3, CC2D2A, MKS1, RPGRIP1L
5MP:00053719.4B9D1, B9D2, C2CD3, CC2D2A, MKS1, RPGRIP1L
6MP:00053829.3B9D1, B9D2, CC2D2A, CEP290, MKS1, RPGRIP1L
7MP:00053679.3B9D1, CC2D2A, CEP290, MKS1, NPHP1, NPHP4
8MP:00053919.1B9D1, B9D2, CC2D2A, CEP290, MKS1, NPHP1
9MP:00053858.9B9D1, C2CD3, CC2D2A, CEP290, MKS1, NPHP4
10MP:00053848.8B9D1, B9D2, C2CD3, CC2D2A, CEP290, MKS1
11MP:00036318.7ARL13B, B9D1, C2CD3, CC2D2A, CEP290, MKS1
12MP:00107688.7ARL13B, B9D1, B9D2, C2CD3, CC2D2A, CEP290
13MP:00053788.7ARL13B, B9D1, B9D2, CC2D2A, CEP290, MKS1

Publications for Meckel Syndrome 1

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Articles related to Meckel Syndrome 1:

idTitleAuthorsYear
1
Concerted stimulation and deactivation of pertussis toxin-sensitive G proteins by chimeric G protein-coupled receptor-regulator of G protein signaling 4 fusion proteins: analysis of the contribution of palmitoylated cysteine residues to the GAP activity of RGS4. (12753087)
2003

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 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

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:

idNameGO IDScoreTop Affiliating Genes
1ciliary transition zoneGO:003586910.3B9D2, CEP290, MKS1, NPHP4, TMEM237
2centrioleGO:000581410.2CEP290, MKS1
3bicellular tight junctionGO:000592310.2NPHP1, NPHP4
4photoreceptor connecting ciliumGO:003239110.2CEP290, NPHP4, RPGRIP1
5cytoskeletonGO:00058569.9NPHP1, NPHP4, TCTN2, TMEM216
6TCTN-B9D complexGO:00360389.9B9D1, B9D2, MKS1, TCTN2, TMEM216, TMEM231

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1embryonic brain developmentGO:199040310.7CC2D2A, MKS1
2camera-type eye developmentGO:004301010.6CC2D2A, RPGRIP1L
3regulation of smoothened signaling pathwayGO:000858910.6C2CD3, MKS1
4neural tube patterningGO:002153210.5ARL13B, TMEM107
5nonmotile primary cilium assemblyGO:003505810.5CC2D2A, MKS1, TMEM107
6determination of left/right symmetryGO:000736810.4CC2D2A, MKS1, RPGRIP1L
7smoothened signaling pathwayGO:000722410.3ARL13B, CC2D2A, WDPCP
8cilium assemblyGO:004238410.3B9D1, RPGRIP1L
9cilium morphogenesisGO:006027110.0B9D1, CC2D2A, CEP290, MKS1, TCTN2, WDPCP
10single organismal cell-cell adhesionGO:00163379.9NPHP1, NPHP4, PKHD1
11organelle organizationGO:00069969.4ARL13B, B9D2, CC2D2A, NPHP1, RPGRIP1L, TMEM67

Sources for Meckel Syndrome 1

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet