MCID: MCK013
MIFTS: 59

Meckel Syndrome, Type 1

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

Aliases & Classifications for Meckel Syndrome, Type 1

MalaCards integrated aliases for Meckel Syndrome, Type 1:

Name: Meckel Syndrome, Type 1 57 40
Meckel-Gruber Syndrome 57 12 25 59 75 29 6 73
Meckel Syndrome 57 12 76 53 25 59 37 15
Meckel Syndrome 1 57 12 75 13
Dysencephalia Splanchnocystica 57 25 75
Meckel Syndrome Type 1 29 6 73
Gruber Syndrome 57 53 75
Mks1 57 12 75
Mks 57 53 25
Meckel-Gruber Syndrome, Type 1 57 12
Mes 57 75
Dysencephalia Splachnocystica 53
Meckel Gruber Syndrome 53
Meckel Syndrome; Mks 57

Characteristics:

Orphanet epidemiological data:

59
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;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
prenatal diagnosis by ultrasound
perinatal death


HPO:

32
meckel syndrome, type 1:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Meckel Syndrome, Type 1

OMIM : 57 Meckel syndrome, also known as Meckel-Gruber syndrome, is a severe pleiotropic autosomal recessive developmental disorder caused by dysfunction of primary cilia during early embryogenesis. There is extensive clinical variability and controversy as to the minimum diagnostic criteria. Early reports, including that of Opitz and Howe (1969) and Wright et al. (1994), stated that the classic triad of Meckel syndrome comprises (1) cystic renal disease; (2) a central nervous system malformation, most commonly occipital encephalocele; and (3) polydactyly, most often postaxial. However, based on a study of 67 patients, Salonen (1984) concluded that the minimum diagnostic criteria are (1) cystic renal disease; (2) CNS malformation, and (3) hepatic abnormalities, including portal fibrosis or ductal proliferation. In a review of Meckel syndrome, Logan et al. (2011) stated that the classic triad first described by Meckel (1822) included occipital encephalocele, cystic kidneys, and fibrotic changes to the liver. (249000)

MalaCards based summary : Meckel Syndrome, Type 1, also known as meckel-gruber syndrome, is related to bardet-biedl syndrome 13 and encephalocele. An important gene associated with Meckel Syndrome, Type 1 is MKS1 (Meckel Syndrome, Type 1), and among its related pathways/superpathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. Affiliated tissues include kidney, liver and brain, and related phenotypes are hypertelorism and hydrocephalus

UniProtKB/Swiss-Prot : 75 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.

NIH Rare Diseases : 53 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. 

Genetics Home Reference : 25 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.

Disease Ontology : 12 A ciliopathy that is characterized by renal cystic dysplasia, occipital encephalocele, polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia.

Wikipedia : 76 Meckel syndrome (also known as Meckel–Gruber syndrome, Gruber syndrome, dysencephalia splanchnocystica)... more...

Related Diseases for Meckel Syndrome, Type 1

Diseases in the Meckel Syndrome, Type 1 family:

Meckel Syndrome, Type 7 Meckel Syndrome, Type 2
Meckel Syndrome, Type 3 Meckel Syndrome, Type 4
Meckel Syndrome, Type 5 Meckel Syndrome, Type 6
Meckel Syndrome, Type 8 Meckel Syndrome, Type 10
Meckel Syndrome, Type 9 Meckel Syndrome, Type 11
Meckel Syndrome 12 Meckel Syndrome 13

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

(show top 50) (show all 135)
# Related Disease Score Top Affiliating Genes
1 bardet-biedl syndrome 13 33.5 CC2D2A CEP290 MKS1 RPGRIP1L TMEM67 WDPCP
2 encephalocele 32.8 CC2D2A CEP290 MKS1 TMEM67
3 bardet-biedl syndrome 32.7 CEP290 MKS1 RPGRIP1L TMEM67 WDPCP
4 hydrolethalus syndrome 1 32.5 MKS1 TMEM216
5 senior-loken syndrome 1 32.3 ARL13B CC2D2A CEP290 MKS1 TMEM216 TMEM67
6 nephronophthisis 31.9 ARL13B CC2D2A CEP290 MKS1 RPGRIP1 RPGRIP1L
7 joubert syndrome 1 31.4 ARL13B B9D1 B9D2 CC2D2A CEP290 CSPP1
8 joubert syndrome 28 11.7
9 chronic fatigue syndrome 11.6
10 mckusick-kaufman syndrome 11.2
11 menkes disease 11.2
12 polydactyly 11.1
13 aplastic anemia 11.0
14 hemolytic anemia 11.0
15 malignant spiradenoma 11.0
16 nephronophthisis 1 10.9
17 meckel syndrome, type 7 10.9
18 meckel syndrome, type 2 10.9
19 meckel syndrome, type 3 10.9
20 meckel syndrome, type 4 10.9
21 meckel syndrome, type 8 10.9
22 meckel syndrome, type 9 10.9
23 congenital hepatic fibrosis 10.8 CC2D2A RPGRIP1L TMEM67
24 chronic kidney failure 10.8
25 joubert syndrome with ocular anomalies 10.8
26 coach syndrome 10.8 CC2D2A RPGRIP1L TMEM67
27 atrial standstill 1 10.8
28 pernicious anemia 10.8
29 fanconi anemia, complementation group a 10.8
30 hemochromatosis, type 1 10.8
31 polycythemia vera 10.8
32 sickle cell anemia 10.8
33 deficiency anemia 10.8
34 atrial fibrillation 10.8
35 long qt syndrome 10.8
36 joubert syndrome with oculorenal anomalies 10.8 CC2D2A CEP290 TMEM216 TMEM231
37 meckel syndrome, type 6 10.7 CC2D2A WDPCP
38 bardet-biedl syndrome 15 10.7 CC2D2A RPGRIP1L TMEM67 WDPCP
39 bardet-biedl syndrome 14 10.6 CEP290 TMEM67
40 fundus dystrophy 10.6 CC2D2A CEP290 RPGRIP1 TMEM67
41 asphyxiating thoracic dystrophy 10.5 ARL13B CSPP1 RPGRIP1L TCTN1 TCTN2
42 orofaciodigital syndrome vi 10.5 ARL13B CEP290 RPGRIP1 RPGRIP1L TCTN1 TMEM231
43 orofaciodigital syndrome 10.3 TCTN1 TMEM107
44 sarcoma 10.1
45 uterine sarcoma 10.1
46 prostatitis 10.0
47 anxiety 9.9
48 fasciitis 9.9
49 plantar fasciitis 9.9
50 autism 9.8

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



Diseases related to Meckel Syndrome, Type 1

Symptoms & Phenotypes for Meckel Syndrome, Type 1

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
microphthalmia
hypotelorism
iris coloboma

Head And Neck Neck:
short neck
webbed neck

Neurologic Central Nervous System:
hydrocephalus
cerebellar hypoplasia
arnold-chiari malformation
dandy-walker malformation
anencephaly
more
Head And Neck Head:
microcephaly

Head And Neck Face:
micrognathia
sloping forehead
potter-like facies

GenitourinaryInternal GenitaliaMale:
cryptorchidism

Abdomen Gastrointestinal:
intestinal malrotation
omphalocele
single umbilical artery
imperforate anus

Genitourinary External Genitalia Male:
ambiguous genitalia
small genitalia

Skeletal Feet:
talipes
polydactyly

Genitourinary Kidneys:
renal agenesis
polycystic kidneys

Prenatal Manifestations Delivery:
breech presentation

Abdomen Biliary Tract:
bile duct proliferation
bile duct dilatation

Respiratory Larynx:
cleft epiglottis

Genitourinary Ureters:
duplicated ureters

Prenatal Manifestations Placenta And Umbilical Cord:
placental enlargement

Head And Neck Ears:
low-set ears

Skeletal Hands:
clinodactyly
syndactyly
postaxial polydactyly

AbdomenSpleen:
splenomegaly
asplenia
accessory spleen

Head And Neck Mouth:
cleft palate
lobulated tongue
cleft lip
macrostomia
natal teeth

Cardiovascular Vascular:
patent ductus arteriosus

Cardiovascular Heart:
coarctation of aorta
septal defects

Prenatal Manifestations Amniotic Fluid:
oligohydramnios
elevated amniotic alpha-fetoprotein in affected fetuses with encephalocele

Genitourinary External Genitalia Female:
ambiguous genitalia
small genitalia

Endocrine Features:
adrenal hypoplasia

Respiratory Lung:
pulmonary hypoplasia

Skeletal Limbs:
bowed long bones

Growth Other:
variable prenatal growth deficiency

Genitourinary Internal Genitalia Female:
separated vagina
uterine abnormalities

Genitourinary Bladder:
hypoplastic bladder


Clinical features from OMIM:

249000

Human phenotypes related to Meckel Syndrome, Type 1:

59 32 (show top 50) (show all 89)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000316
2 hydrocephalus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000238
3 cataract 59 32 frequent (33%) Frequent (79-30%) HP:0000518
4 bowing of the long bones 59 32 occasional (7.5%) Occasional (29-5%) HP:0006487
5 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
6 optic atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0000648
7 full cheeks 59 32 frequent (33%) Frequent (79-30%) HP:0000293
8 cleft palate 59 32 frequent (33%) Frequent (79-30%) HP:0000175
9 micrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000347
10 cryptorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0000028
11 depressed nasal ridge 59 32 frequent (33%) Frequent (79-30%) HP:0000457
12 microphthalmia 59 32 frequent (33%) Frequent (79-30%) HP:0000568
13 multicystic kidney dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000003
14 pancreatic cysts 59 32 occasional (7.5%) Occasional (29-5%) HP:0001737
15 low-set, posteriorly rotated ears 59 32 frequent (33%) Frequent (79-30%) HP:0000368
16 congenital hepatic fibrosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002612
17 aplasia/hypoplasia of the iris 59 32 frequent (33%) Frequent (79-30%) HP:0008053
18 oligohydramnios 59 32 frequent (33%) Frequent (79-30%) HP:0001562
19 sclerocornea 59 32 frequent (33%) Frequent (79-30%) HP:0000647
20 male pseudohermaphroditism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000037
21 pancreatic fibrosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0100732
22 preaxial hand polydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001177
23 microcornea 59 32 frequent (33%) Frequent (79-30%) HP:0000482
24 furrowed tongue 59 32 occasional (7.5%) Occasional (29-5%) HP:0000221
25 aplasia/hypoplasia of the corpus callosum 59 32 occasional (7.5%) Occasional (29-5%) HP:0007370
26 postaxial hand polydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001162
27 postaxial foot polydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001830
28 urethral atresia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000068
29 ureteral duplication 59 32 occasional (7.5%) Occasional (29-5%) HP:0000073
30 sloping forehead 59 32 frequent (33%) Frequent (79-30%) HP:0000340
31 anophthalmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000528
32 dandy-walker malformation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001305
33 situs inversus totalis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001696
34 asplenia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001746
35 accessory spleen 59 32 occasional (7.5%) Occasional (29-5%) HP:0001747
36 talipes 59 32 frequent (33%) Frequent (79-30%) HP:0001883
37 encephalocele 59 32 hallmark (90%) Very frequent (99-80%) HP:0002084
38 anencephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002323
39 cystic liver disease 59 32 occasional (7.5%) Occasional (29-5%) HP:0006706
40 lobar holoprosencephaly 59 32 frequent (33%) Frequent (79-30%) HP:0006870
41 aplasia/hypoplasia of the tongue 59 32 occasional (7.5%) Occasional (29-5%) HP:0010295
42 true hermaphroditism 59 32 occasional (7.5%) Occasional (29-5%) HP:0010459
43 low-set ears 32 HP:0000369
44 short neck 32 HP:0000470
45 agenesis of corpus callosum 32 HP:0001274
46 clinodactyly 32 HP:0030084
47 splenomegaly 32 HP:0001744
48 malformation of the heart and great vessels 59 Occasional (29-5%)
49 patent ductus arteriosus 32 HP:0001643
50 intrauterine growth retardation 32 HP:0001511

MGI Mouse Phenotypes related to Meckel Syndrome, Type 1:

46 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.25 ARL13B B9D1 B9D2 CC2D2A CEP290 MKS1
2 embryo MP:0005380 10.2 ARL13B B9D1 CC2D2A MKS1 RPGRIP1L TCTN1
3 cardiovascular system MP:0005385 10.18 B9D1 CC2D2A CEP290 MKS1 RPGRIP1L TCTN2
4 growth/size/body region MP:0005378 10.17 ARL13B B9D1 B9D2 CEP290 MKS1 RPGRIP1L
5 craniofacial MP:0005382 10.15 B9D1 CC2D2A CEP290 MKS1 RPGRIP1L TCTN2
6 digestive/alimentary MP:0005381 10.13 MKS1 RPGRIP1L TCTN2 TMEM107 TMEM67 WDPCP
7 limbs/digits/tail MP:0005371 10.1 B9D1 CC2D2A MKS1 RPGRIP1L TCTN1 TCTN2
8 mortality/aging MP:0010768 10.1 ARL13B B9D1 B9D2 CC2D2A CEP290 MKS1
9 nervous system MP:0003631 10.1 TMEM107 TMEM231 TMEM67 WDPCP ARL13B B9D1
10 liver/biliary system MP:0005370 9.91 B9D1 B9D2 CEP290 MKS1 RPGRIP1L TMEM107
11 renal/urinary system MP:0005367 9.81 ARL13B B9D1 CC2D2A CEP290 MKS1 RPGRIP1L
12 respiratory system MP:0005388 9.5 RPGRIP1L WDPCP ARL13B B9D2 CC2D2A CEP290
13 vision/eye MP:0005391 9.32 RPGRIP1 RPGRIP1L TCTN2 TMEM107 TMEM231 WDPCP

Drugs & Therapeutics for Meckel Syndrome, Type 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource Recruiting NCT01401998

Search NIH Clinical Center for Meckel Syndrome, Type 1

Genetic Tests for Meckel Syndrome, Type 1

Genetic tests related to Meckel Syndrome, Type 1:

# Genetic test Affiliating Genes
1 Meckel-Gruber Syndrome 29
2 Meckel Syndrome Type 1 29 MKS1

Anatomical Context for Meckel Syndrome, Type 1

MalaCards organs/tissues related to Meckel Syndrome, Type 1:

41
Kidney, Liver, Brain, Lung, Bone, Tongue, Heart

Publications for Meckel Syndrome, Type 1

Articles related to Meckel Syndrome, Type 1:

(show all 27)
# Title Authors Year
1
Meckel Gruber syndrome associated with anencephaly-an unusual reported case. ( 29479449 )
2018
2
The First Reported Case of Meckel-Gruber Syndrome Associated With Abnormal Karyotype Mosaic Trisomy 17. ( 28812468 )
2017
3
An unusual case of Meckel-Gruber syndrome (MKS) associated with visceroatrial heterotaxy and facial anomalies. ( 26982535 )
2016
4
TMEM231 Gene Conversion Associated with Joubert and Meckel-Gruber Syndromes in the Same Family. ( 27449316 )
2016
5
[HIGH INCIDENCE AND BROAD GENETIC VARIABILITY OF MECKEL-GRUBER SYNDROME IN THE ARAB POPULATION RESIDING IN NORTH-EAST ISRAEL]. ( 26742224 )
2015
6
Antenatal diagnosis of left atrial isomerism and heterotaxy syndrome in fetus with Meckel-Gruber syndrome. ( 24643152 )
2014
7
First-trimester diagnosis of Meckel-Gruber syndrome by fetal ultrasound with molecular identification of CC2D2A mutations by next- generation sequencing. ( 24706459 )
2014
8
Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel-Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defects. ( 23283079 )
2013
9
Genomic analysis of Meckel-Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes. ( 23169490 )
2013
10
Mutations in TMEM231 cause Meckel-Gruber syndrome. ( 23349226 )
2013
11
Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies. ( 23351400 )
2012
12
A TCTN2 mutation defines a novel Meckel Gruber syndrome locus. ( 21462283 )
2011
13
Meckel-Gruber syndrome protein MKS3 is required for endoplasmic reticulum-associated degradation of surfactant protein C. ( 19815549 )
2009
14
Combination of cor triatriatum sinistrum and hypoplastic left heart syndrome in Meckel-Gruber syndrome: a case report. ( 19358626 )
2009
15
Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome. ( 17705300 )
2008
16
A disease causing deletion of 29 base pairs in intron 15 in the MKS1 gene is highly associated with the campomelic variant of the Meckel-Gruber syndrome. ( 17935508 )
2007
17
The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. ( 17160906 )
2007
18
Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome. ( 17437276 )
2007
19
The Meckel-Gruber syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation. ( 17185389 )
2007
20
Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3. ( 17377820 )
2007
21
Meckel-Gruber syndrome in association with an occipital meningocele. ( 16902350 )
2006
22
The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat. ( 16415887 )
2006
23
Prenatal diagnosis of Meckel Gruber syndrome presenting with renal agenesis: report of a case. ( 16719279 )
2006
24
A novel locus for Meckel-Gruber syndrome, MKS3, maps to chromosome 8q24. ( 12384791 )
2002
25
Diagnosis of the Meckel-Gruber syndrome at eleven to fourteen weeks' gestation. ( 9065174 )
1997
26
Meckel-Gruber syndrome associated with short limbed dwarfism. ( 9715303 )
1996
27
Phenotypic variability in Meckel-Gruber syndrome. ( 2225527 )
1990

Variations for Meckel Syndrome, Type 1

UniProtKB/Swiss-Prot genetic disease variations for Meckel Syndrome, Type 1:

75
# Symbol AA change Variation ID SNP ID
1 MKS1 p.Asp19Tyr VAR_077515 rs863225205

ClinVar genetic disease variations for Meckel Syndrome, Type 1:

6
(show top 50) (show all 1247)
# Gene Variation Type Significance SNP ID Assembly Location
1 CC2D2A NM_001080522.2(CC2D2A): c.3145C> T (p.Arg1049Ter) single nucleotide variant Pathogenic rs386833750 GRCh37 Chromosome 4, 15565108: 15565108
2 CC2D2A NM_001080522.2(CC2D2A): c.3145C> T (p.Arg1049Ter) single nucleotide variant Pathogenic rs386833750 GRCh38 Chromosome 4, 15563485: 15563485
3 RPGRIP1L NM_015272.4(RPGRIP1L): c.685G> A (p.Ala229Thr) single nucleotide variant risk factor rs61747071 GRCh37 Chromosome 16, 53720436: 53720436
4 RPGRIP1L NM_015272.4(RPGRIP1L): c.685G> A (p.Ala229Thr) single nucleotide variant risk factor rs61747071 GRCh38 Chromosome 16, 53686524: 53686524
5 CEP290 NM_025114.3(CEP290): c.5668G> T (p.Gly1890Ter) single nucleotide variant Pathogenic rs137852832 GRCh37 Chromosome 12, 88471040: 88471040
6 CEP290 NM_025114.3(CEP290): c.5668G> T (p.Gly1890Ter) single nucleotide variant Pathogenic rs137852832 GRCh38 Chromosome 12, 88077263: 88077263
7 CEP290 NM_025114.3(CEP290): c.2991+1655A> G single nucleotide variant Pathogenic rs281865192 GRCh37 Chromosome 12, 88494960: 88494960
8 CEP290 NM_025114.3(CEP290): c.2991+1655A> G single nucleotide variant Pathogenic rs281865192 GRCh38 Chromosome 12, 88101183: 88101183
9 TMEM67 NM_153704.5(TMEM67): c.622A> T (p.Arg208Ter) single nucleotide variant Pathogenic rs137853108 GRCh37 Chromosome 8, 94777845: 94777845
10 TMEM67 NM_153704.5(TMEM67): c.622A> T (p.Arg208Ter) single nucleotide variant Pathogenic rs137853108 GRCh38 Chromosome 8, 93765617: 93765617
11 TMEM67 NM_153704.5(TMEM67): c.1843T> C (p.Cys615Arg) single nucleotide variant Pathogenic/Likely pathogenic rs201893408 GRCh37 Chromosome 8, 94808198: 94808198
12 TMEM67 NM_153704.5(TMEM67): c.1843T> C (p.Cys615Arg) single nucleotide variant Pathogenic/Likely pathogenic rs201893408 GRCh38 Chromosome 8, 93795970: 93795970
13 MKS1 NM_017777.3(MKS1): c.50_54dupCCCGG (p.Asp19Profs) duplication Pathogenic rs730880323 GRCh37 Chromosome 17, 56296538: 56296542
14 MKS1 NM_017777.3(MKS1): c.50_54dupCCCGG (p.Asp19Profs) duplication Pathogenic rs730880323 GRCh38 Chromosome 17, 58219177: 58219181
15 MKS1 NM_017777.3(MKS1): c.80+2T> C single nucleotide variant Pathogenic/Likely pathogenic rs386834052 GRCh37 Chromosome 17, 56296510: 56296510
16 MKS1 NM_017777.3(MKS1): c.80+2T> C single nucleotide variant Pathogenic/Likely pathogenic rs386834052 GRCh38 Chromosome 17, 58219149: 58219149
17 MKS1 NM_017777.3(MKS1): c.1024+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs199874059 GRCh37 Chromosome 17, 56288019: 56288019
18 MKS1 NM_017777.3(MKS1): c.1024+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs199874059 GRCh38 Chromosome 17, 58210658: 58210658
19 MKS1 NM_017777.3(MKS1): c.1048C> G (p.Gln350Glu) single nucleotide variant Likely pathogenic rs386834041 GRCh37 Chromosome 17, 56285921: 56285921
20 MKS1 NM_017777.3(MKS1): c.1048C> G (p.Gln350Glu) single nucleotide variant Likely pathogenic rs386834041 GRCh38 Chromosome 17, 58208560: 58208560
21 MKS1 NM_017777.3(MKS1): c.1048C> T (p.Gln350Ter) single nucleotide variant Likely pathogenic rs386834041 GRCh37 Chromosome 17, 56285921: 56285921
22 MKS1 NM_017777.3(MKS1): c.1048C> T (p.Gln350Ter) single nucleotide variant Likely pathogenic rs386834041 GRCh38 Chromosome 17, 58208560: 58208560
23 MKS1 NM_017777.3(MKS1): c.1407+2delT deletion Likely pathogenic rs386834042 GRCh37 Chromosome 17, 56284444: 56284444
24 MKS1 NM_017777.3(MKS1): c.1407+2delT deletion Likely pathogenic rs386834042 GRCh38 Chromosome 17, 58207083: 58207083
25 MKS1 NM_017777.3(MKS1): c.1450_1453dupGGCA (p.Thr485Argfs) duplication Pathogenic/Likely pathogenic rs386834044 GRCh37 Chromosome 17, 56283863: 56283866
26 MKS1 NM_017777.3(MKS1): c.1450_1453dupGGCA (p.Thr485Argfs) duplication Pathogenic/Likely pathogenic rs386834044 GRCh38 Chromosome 17, 58206502: 58206505
27 MKS1 NM_017777.3(MKS1): c.1490G> A (p.Arg497Lys) single nucleotide variant Likely pathogenic rs386834045 GRCh37 Chromosome 17, 56283826: 56283826
28 MKS1 NM_017777.3(MKS1): c.1490G> A (p.Arg497Lys) single nucleotide variant Likely pathogenic rs386834045 GRCh38 Chromosome 17, 58206465: 58206465
29 MKS1 NM_017777.3(MKS1): c.184_190delACTGCCA (p.Thr62Valfs) deletion Likely pathogenic rs386834046 GRCh37 Chromosome 17, 56295981: 56295987
30 MKS1 NM_017777.3(MKS1): c.184_190delACTGCCA (p.Thr62Valfs) deletion Likely pathogenic rs386834046 GRCh38 Chromosome 17, 58218620: 58218626
31 MKS1 NM_017777.3(MKS1): c.392_393delCT (p.Ser131Terfs) deletion Likely pathogenic rs386834047 GRCh37 Chromosome 17, 56293473: 56293474
32 MKS1 NM_017777.3(MKS1): c.392_393delCT (p.Ser131Terfs) deletion Likely pathogenic rs386834047 GRCh38 Chromosome 17, 58216112: 58216113
33 MKS1 NM_017777.3(MKS1): c.424C> T (p.Gln142Ter) single nucleotide variant Likely pathogenic rs386834049 GRCh37 Chromosome 17, 56292193: 56292193
34 MKS1 NM_017777.3(MKS1): c.424C> T (p.Gln142Ter) single nucleotide variant Likely pathogenic rs386834049 GRCh38 Chromosome 17, 58214832: 58214832
35 MKS1 NM_017777.3(MKS1): c.472C> T (p.Arg158Ter) single nucleotide variant Likely pathogenic rs386834050 GRCh37 Chromosome 17, 56292145: 56292145
36 MKS1 NM_017777.3(MKS1): c.472C> T (p.Arg158Ter) single nucleotide variant Likely pathogenic rs386834050 GRCh38 Chromosome 17, 58214784: 58214784
37 MKS1 NM_017777.3(MKS1): c.515+1G> A single nucleotide variant Pathogenic rs201933838 GRCh37 Chromosome 17, 56292101: 56292101
38 MKS1 NM_017777.3(MKS1): c.515+1G> A single nucleotide variant Pathogenic rs201933838 GRCh38 Chromosome 17, 58214740: 58214740
39 MKS1 NM_017777.3(MKS1): c.51_55dupCCGGG (p.Asp19Alafs) duplication Likely pathogenic rs386834051 GRCh37 Chromosome 17, 56296537: 56296541
40 MKS1 NM_017777.3(MKS1): c.51_55dupCCGGG (p.Asp19Alafs) duplication Likely pathogenic rs386834051 GRCh38 Chromosome 17, 58219176: 58219180
41 MKS1 NM_017777.3(MKS1): c.958G> A (p.Val320Ile) single nucleotide variant Likely pathogenic rs386834053 GRCh37 Chromosome 17, 56288341: 56288341
42 MKS1 NM_017777.3(MKS1): c.958G> A (p.Val320Ile) single nucleotide variant Likely pathogenic rs386834053 GRCh38 Chromosome 17, 58210980: 58210980
43 TMEM67 NM_153704.5(TMEM67): c.1046T> C (p.Leu349Ser) single nucleotide variant Pathogenic/Likely pathogenic rs386834180 GRCh37 Chromosome 8, 94793953: 94793953
44 TMEM67 NM_153704.5(TMEM67): c.1046T> C (p.Leu349Ser) single nucleotide variant Pathogenic/Likely pathogenic rs386834180 GRCh38 Chromosome 8, 93781725: 93781725
45 TMEM67 NM_153704.5(TMEM67): c.579_580delAG (p.Gly195Ilefs) deletion Pathogenic/Likely pathogenic rs386834202 GRCh37 Chromosome 8, 94777802: 94777803
46 TMEM67 NM_153704.5(TMEM67): c.579_580delAG (p.Gly195Ilefs) deletion Pathogenic/Likely pathogenic rs386834202 GRCh38 Chromosome 8, 93765574: 93765575
47 TMEM231 NM_001077416.2(TMEM231): c.823G> A (p.Val275Ile) single nucleotide variant Pathogenic/Likely pathogenic rs397514753 GRCh37 Chromosome 16, 75576500: 75576500
48 TMEM231 NM_001077416.2(TMEM231): c.823G> A (p.Val275Ile) single nucleotide variant Pathogenic/Likely pathogenic rs397514753 GRCh38 Chromosome 16, 75542602: 75542602
49 CEP290 NM_025114.3(CEP290): c.3175dupA (p.Ile1059Asnfs) duplication Pathogenic rs62640570 GRCh37 Chromosome 12, 88487681: 88487681
50 CEP290 NM_025114.3(CEP290): c.3175dupA (p.Ile1059Asnfs) duplication Pathogenic rs62640570 GRCh38 Chromosome 12, 88093904: 88093904

Copy number variations for Meckel Syndrome, Type 1 from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 33748 1 47600000 59900000 Copy number Meckel-Gruber syndrome

Expression for Meckel Syndrome, Type 1

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

Pathways for Meckel Syndrome, Type 1

GO Terms for Meckel Syndrome, Type 1

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 cilium GO:0005929 9.93 ARL13B B9D2 CC2D2A CEP290 MKS1 RPGRIP1
2 microtubule organizing center GO:0005815 9.91 CEP290 CEP55 CSPP1 MKS1 RPGRIP1L
3 ciliary basal body GO:0036064 9.8 B9D1 B9D2 CEP290 MKS1 RPGRIP1L
4 centriole GO:0005814 9.78 CEP290 CEP55 LRRCC1 MKS1
5 axoneme GO:0005930 9.76 ARL13B RPGRIP1 RPGRIP1L WDPCP
6 ciliary membrane GO:0060170 9.73 ARL13B TCTN2 TMEM231 TMEM67
7 ciliary transition zone GO:0035869 9.7 B9D1 B9D2 CC2D2A CEP290 MKS1 RPGRIP1L
8 photoreceptor connecting cilium GO:0032391 9.67 CEP290 RPGRIP1 RPGRIP1L
9 MKS complex GO:0036038 9.36 B9D1 B9D2 CC2D2A CEP290 MKS1 TCTN1
10 cytoplasm GO:0005737 10.37 B9D1 B9D2 CC2D2A CEP290 CEP55 CSPP1
11 cytoskeleton GO:0005856 10.17 B9D1 B9D2 CC2D2A CEP290 CEP55 CSPP1
12 cell projection GO:0042995 10.13 ARL13B B9D1 B9D2 CC2D2A CEP290 MKS1
13 centrosome GO:0005813 10.02 B9D1 B9D2 CEP290 CEP55 CSPP1 LRRCC1

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 smoothened signaling pathway GO:0007224 9.8 ARL13B B9D1 CC2D2A TCTN2 TMEM231 WDPCP
2 determination of left/right symmetry GO:0007368 9.78 ARL13B CC2D2A MKS1 RPGRIP1L
3 camera-type eye development GO:0043010 9.76 B9D1 CC2D2A RPGRIP1L WDPCP
4 embryonic digit morphogenesis GO:0042733 9.73 B9D1 MKS1 TMEM107 WDPCP
5 non-motile cilium assembly GO:1905515 9.73 ARL13B CC2D2A MKS1 RPGRIP1L TMEM107 TMEM216
6 cell projection organization GO:0030030 9.73 B9D1 B9D2 CC2D2A CEP290 MKS1 TCTN1
7 regulation of protein localization GO:0032880 9.69 B9D1 TMEM231 WDPCP
8 regulation of smoothened signaling pathway GO:0008589 9.67 MKS1 RPGRIP1L TCTN1
9 neural tube patterning GO:0021532 9.58 ARL13B RPGRIP1L TMEM107
10 telencephalon development GO:0021537 9.57 RPGRIP1L TCTN1
11 motile cilium assembly GO:0044458 9.56 CC2D2A MKS1
12 eye photoreceptor cell development GO:0042462 9.55 CEP290 RPGRIP1
13 head development GO:0060322 9.54 MKS1 RPGRIP1L
14 protein localization to ciliary transition zone GO:1904491 9.54 CC2D2A TCTN1 TMEM107
15 embryonic brain development GO:1990403 9.52 CC2D2A MKS1
16 ciliary basal body-plasma membrane docking GO:0097711 9.32 B9D1 B9D2 CC2D2A CEP290 MKS1 RPGRIP1L
17 cilium assembly GO:0060271 10 ARL13B B9D1 B9D2 CC2D2A CEP290 MKS1

Sources for Meckel Syndrome, Type 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....