MKS1
MCID: MCK013
MIFTS: 62

Meckel Syndrome, Type 1 (MKS1)

Categories: Bone diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Nephrological diseases, Neuronal diseases, Rare 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 15
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 meckel syndrome, type 5 and bardet-biedl syndrome 13. 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

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

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.

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. 

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.

Wikipedia : 76 Meckel syndrome (also known as Meckel�??Gruber syndrome, Gruber syndrome, dysencephalia... 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 352)
# Related Disease Score Top Affiliating Genes
1 meckel syndrome, type 5 34.0 B9D1 B9D2 NPHP4 RPGRIP1L
2 bardet-biedl syndrome 13 33.1 CC2D2A CEP290 MKS1 RPGRIP1L TMEM67 WDPCP
3 meckel syndrome, type 4 33.0 CEP290 MKS1 TMEM231
4 meckel syndrome, type 2 32.9 B9D1 B9D2 MKS1 TMEM216 TMEM67
5 meckel syndrome, type 3 32.8 B9D2 CC2D2A CEP290 MKS1 NPHP1 RPGRIP1L
6 bardet-biedl syndrome 32.3 CEP290 MKS1 NPHP1 NPHP4 RPGRIP1L TMEM67
7 encephalocele 32.2 CC2D2A CEP290 MKS1 TMEM67
8 joubert syndrome 6 32.1 CEP290 MKS1 NPHP1 TMEM67
9 pathologic nystagmus 32.0 CEP290 MKS1 TMEM67 WDPCP
10 nephronophthisis 1 32.0 NPHP1 NPHP4
11 nephronophthisis 2 32.0 MKS1 NPHP1 NPHP4
12 joubert syndrome 1 32.0 ARL13B B9D1 B9D2 CC2D2A CEP290 CSPP1
13 meckel syndrome, type 8 31.9 TCTN1 TCTN2
14 senior-loken syndrome 1 31.9 CC2D2A CEP290 MKS1 NPHP1 NPHP4 TMEM216
15 nephronophthisis 31.7 ARL13B CC2D2A CEP290 MKS1 NPHP1 NPHP4
16 meckel syndrome, type 6 31.7 B9D1 B9D2 CC2D2A MKS1 NPHP1 NPHP4
17 meckel syndrome 12 12.4
18 meckel syndrome, type 10 12.4
19 meckel syndrome 13 12.4
20 meckel syndrome, type 11 12.4
21 cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome 12.0
22 joubert syndrome 28 11.8
23 chronic fatigue syndrome 11.8
24 meckel syndrome, type 7 11.6
25 mckusick-kaufman syndrome 11.4
26 menkes disease 11.4
27 smith-lemli-opitz syndrome 11.3
28 atrial fibrillation 11.3
29 polydactyly 11.2
30 aplastic anemia 11.1
31 malignant spiradenoma 11.1
32 hydrolethalus syndrome 1 11.1
33 bardet-biedl syndrome 12 11.1
34 meckel syndrome, type 9 11.0
35 atrial standstill 1 11.0
36 pernicious anemia 11.0
37 fanconi anemia, complementation group a 11.0
38 hemochromatosis, type 1 11.0
39 polycythemia vera 11.0
40 sickle cell anemia 11.0
41 deficiency anemia 11.0
42 long qt syndrome 11.0
43 chronic kidney failure 10.9
44 joubert syndrome with ocular anomalies 10.9
45 myocardial infarction 10.5
46 congenital hepatic fibrosis 10.3 CC2D2A RPGRIP1L TMEM67
47 coach syndrome 10.3 CC2D2A RPGRIP1L TMEM67
48 joubert syndrome with renal anomalies 10.3 NPHP1 RPGRIP1L
49 joubert syndrome with oculorenal anomalies 10.3 CC2D2A CEP290 TMEM216 TMEM231
50 joubert syndrome 17 10.3 CEP290 NPHP1 WDPCP

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

Genitourinary Internal Genitalia Male:
cryptorchidism

Abdomen Gastrointestinal:
intestinal malrotation
omphalocele
single umbilical artery
imperforate anus

Genitourinary External Genitalia Male:
ambiguous genitalia
small genitalia

Skeletal Feet:
talipes
polydactyly

Respiratory Lung:
pulmonary hypoplasia

Genitourinary Kidneys:
renal agenesis
polycystic kidneys

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

Abdomen Spleen:
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

Prenatal Manifestations Delivery:
breech presentation

Endocrine Features:
adrenal 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 90)
# 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 10.32 ARL13B B9D1 B9D2 CC2D2A CEP290 MKS1
2 cardiovascular system MP:0005385 10.26 B9D1 B9D2 CC2D2A CEP290 MKS1 NPHP4
3 embryo MP:0005380 10.23 ARL13B B9D1 B9D2 CC2D2A MKS1 RPGRIP1L
4 craniofacial MP:0005382 10.19 B9D1 B9D2 CC2D2A CEP290 MKS1 RPGRIP1L
5 growth/size/body region MP:0005378 10.17 ARL13B B9D1 B9D2 CC2D2A CEP290 MKS1
6 nervous system MP:0003631 10.16 ARL13B B9D1 B9D2 CC2D2A CEP290 MKS1
7 limbs/digits/tail MP:0005371 10.14 B9D1 B9D2 CC2D2A MKS1 RPGRIP1L TCTN1
8 digestive/alimentary MP:0005381 10.13 B9D1 B9D2 CC2D2A MKS1 RPGRIP1L TCTN2
9 mortality/aging MP:0010768 10.1 ARL13B B9D1 B9D2 CC2D2A CEP290 MKS1
10 renal/urinary system MP:0005367 9.93 ARL13B B9D1 B9D2 CC2D2A CEP290 MKS1
11 liver/biliary system MP:0005370 9.91 B9D1 B9D2 CEP290 MKS1 RPGRIP1L TMEM107
12 respiratory system MP:0005388 9.5 ARL13B B9D2 CC2D2A CEP290 MKS1 RPGRIP1L
13 vision/eye MP:0005391 9.44 B9D1 B9D2 CC2D2A CEP290 MKS1 NPHP1

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 top 50) (show all 95)
# 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
Meckel-Gruber Syndrome: An Update on Diagnosis, Clinical Management, and Research Advances. ( 29209597 )
2017
4
A rare case of Meckel-Gruber syndrome. ( 29250684 )
2017
5
Meckel-Gruber syndrome: ultrasonographic and fetal autopsy correlation. ( 28593008 )
2017
6
Uniparental disomy as an unexpected cause of Meckel-Gruber syndrome: report of a case. ( 28620746 )
2017
7
An unusual case of Meckel-Gruber syndrome (MKS) associated with visceroatrial heterotaxy and facial anomalies. ( 26982535 )
2016
8
A review of Meckel-Gruber syndrome--incidence and outcome in the state of Qatar. ( 26333300 )
2016
9
Re: Meckel-Gruber syndrome: prevalence from a hospital based in Oman. ( 26762791 )
2016
10
Meckel-Gruber syndrome: prevalence from a hospital-based study in Oman. ( 26788898 )
2016
11
[HIGH INCIDENCE AND BROAD GENETIC VARIABILITY OF MECKEL-GRUBER SYNDROME IN THE ARAB POPULATION RESIDING IN NORTH-EAST ISRAEL]. ( 26742224 )
2015
12
Meckel-Gruber Syndrome with unilateral renal agenesis. ( 25933467 )
2015
13
Meckel-Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe. ( 25182137 )
2015
14
The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway. ( 26035863 )
2015
15
Meckel Gruber syndrome, A case report. ( 26037304 )
2015
16
A missense mutation in TMEM67 causes Meckel-Gruber syndrome type 3 (MKS3): a family from China. ( 26191240 )
2015
17
Antenatal diagnosis of left atrial isomerism and heterotaxy syndrome in fetus with Meckel-Gruber syndrome. ( 24643152 )
2014
18
First-trimester diagnosis of Meckel-Gruber syndrome by fetal ultrasound with molecular identification of CC2D2A mutations by next- generation sequencing. ( 24706459 )
2014
19
Meckel-Gruber syndrome and the role of primary cilia in kidney, skeleton, and central nervous system development. ( 24322779 )
2014
20
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
21
Genomic analysis of Meckel-Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes. ( 23169490 )
2013
22
Mutations in TMEM231 cause Meckel-Gruber syndrome. ( 23349226 )
2013
23
Fetal autopsy of Meckel Gruber syndrome -a case report. ( 23445452 )
2013
24
Aberrant Wnt signalling and cellular over-proliferation in a novel mouse model of Meckel-Gruber syndrome. ( 23454480 )
2013
25
Preimplantation genetic diagnosis for a Chinese family with autosomal recessive Meckel-Gruber syndrome type 3 (MKS3). ( 24039893 )
2013
26
Meckel-Gruber syndrome: A rare and lethal anomaly with review of literature. ( 24082939 )
2013
27
Meckel gruber syndrome. ( 24179958 )
2013
28
Meckel Gruber Syndrome: Second trimester diagnosis of a case in a non-consanguineous marriage. ( 24353549 )
2013
29
Meckel gruber syndrome: report of two cases with review of literature. ( 24479060 )
2013
30
Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies. ( 23351400 )
2012
31
Meckel-Gruber syndrome: Report of two cases. ( 22346195 )
2012
32
Earliest ultrasound findings and description of splicing mutations in Meckel-Gruber syndrome. ( 22699515 )
2012
33
Meckel-Gruber syndrome (dysencephalia splanchnocystica). ( 23250180 )
2012
34
Meckel-Gruber syndrome: A rare and lethal anomaly. ( 27493335 )
2012
35
Meckel-Gruber syndrome: Antenatal diagnosis and ethical perspectives. ( 27493349 )
2012
36
A TCTN2 mutation defines a novel Meckel Gruber syndrome locus. ( 21462283 )
2011
37
Disruption of Mks1 localization to the mother centriole causes cilia defects and developmental malformations in Meckel-Gruber syndrome. ( 21045211 )
2011
38
Acute cranial decompression in Meckel-Gruber syndrome and slit-ventricle syndrome with craniocephalic disproportion. ( 22134259 )
2011
39
Meckel-Gruber syndrome: a rare clinical entity. ( 21510539 )
2010
40
Combination of cor triatriatum sinistrum and hypoplastic left heart syndrome in Meckel-Gruber syndrome: a case report. ( 19358626 )
2009
41
Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome. ( 17705300 )
2008
42
MRI in a fetus with Meckel-Gruber syndrome. ( 18026725 )
2008
43
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
44
The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. ( 17160906 )
2007
45
Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome. ( 17437276 )
2007
46
The Meckel-Gruber syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation. ( 17185389 )
2007
47
Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3. ( 17377820 )
2007
48
Meckel-Gruber syndrome in association with an occipital meningocele. ( 16902350 )
2006
49
The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat. ( 16415887 )
2006
50
Prenatal diagnosis of Meckel Gruber syndrome presenting with renal agenesis: report of a case. ( 16719279 )
2006

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 1540)
# 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.1843A> C (p.Thr615Pro) single nucleotide variant Pathogenic rs121918198 GRCh37 Chromosome 16, 53686756: 53686756
4 RPGRIP1L NM_015272.4(RPGRIP1L): c.1843A> C (p.Thr615Pro) single nucleotide variant Pathogenic rs121918198 GRCh38 Chromosome 16, 53652844: 53652844
5 RPGRIP1L NM_015272.4(RPGRIP1L): c.685G> A (p.Ala229Thr) single nucleotide variant risk factor rs61747071 GRCh37 Chromosome 16, 53720436: 53720436
6 RPGRIP1L NM_015272.4(RPGRIP1L): c.685G> A (p.Ala229Thr) single nucleotide variant risk factor rs61747071 GRCh38 Chromosome 16, 53686524: 53686524
7 CEP290 NM_025114.3(CEP290): c.5668G> T (p.Gly1890Ter) single nucleotide variant Pathogenic rs137852832 GRCh37 Chromosome 12, 88471040: 88471040
8 CEP290 NM_025114.3(CEP290): c.5668G> T (p.Gly1890Ter) single nucleotide variant Pathogenic rs137852832 GRCh38 Chromosome 12, 88077263: 88077263
9 CEP290 NM_025114.3(CEP290): c.2991+1655A> G single nucleotide variant Pathogenic rs281865192 GRCh37 Chromosome 12, 88494960: 88494960
10 CEP290 NM_025114.3(CEP290): c.2991+1655A> G single nucleotide variant Pathogenic rs281865192 GRCh38 Chromosome 12, 88101183: 88101183
11 TMEM67 NM_153704.5(TMEM67): c.622A> T (p.Arg208Ter) single nucleotide variant Pathogenic rs137853108 GRCh37 Chromosome 8, 94777845: 94777845
12 TMEM67 NM_153704.5(TMEM67): c.622A> T (p.Arg208Ter) single nucleotide variant Pathogenic rs137853108 GRCh38 Chromosome 8, 93765617: 93765617
13 TMEM67 NM_153704.5(TMEM67): c.1843T> C (p.Cys615Arg) single nucleotide variant Pathogenic/Likely pathogenic rs201893408 GRCh37 Chromosome 8, 94808198: 94808198
14 TMEM67 NM_153704.5(TMEM67): c.1843T> C (p.Cys615Arg) single nucleotide variant Pathogenic/Likely pathogenic rs201893408 GRCh38 Chromosome 8, 93795970: 93795970
15 MKS1 NM_017777.3(MKS1): c.50_54dupCCCGG (p.Asp19Profs) duplication Pathogenic rs730880323 GRCh37 Chromosome 17, 56296538: 56296542
16 MKS1 NM_017777.3(MKS1): c.50_54dupCCCGG (p.Asp19Profs) duplication Pathogenic rs730880323 GRCh38 Chromosome 17, 58219177: 58219181
17 MKS1 NM_017777.3(MKS1): c.80+2T> C single nucleotide variant Likely pathogenic rs386834052 GRCh37 Chromosome 17, 56296510: 56296510
18 MKS1 NM_017777.3(MKS1): c.80+2T> C single nucleotide variant Likely pathogenic rs386834052 GRCh38 Chromosome 17, 58219149: 58219149
19 MKS1 NM_017777.3(MKS1): c.1024+1G> A single nucleotide variant Likely pathogenic rs199874059 GRCh37 Chromosome 17, 56288019: 56288019
20 MKS1 NM_017777.3(MKS1): c.1024+1G> A single nucleotide variant Likely pathogenic rs199874059 GRCh38 Chromosome 17, 58210658: 58210658
21 MKS1 NM_017777.3(MKS1): c.417G> A (p.Glu139=) single nucleotide variant Conflicting interpretations of pathogenicity rs386834048 GRCh37 Chromosome 17, 56293449: 56293449
22 MKS1 NM_017777.3(MKS1): c.417G> A (p.Glu139=) single nucleotide variant Conflicting interpretations of pathogenicity rs386834048 GRCh38 Chromosome 17, 58216088: 58216088
23 MKS1 NM_017777.3(MKS1): c.1476T> G (p.Cys492Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs137853105 GRCh37 Chromosome 17, 56283840: 56283840
24 MKS1 NM_017777.3(MKS1): c.1476T> G (p.Cys492Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs137853105 GRCh38 Chromosome 17, 58206479: 58206479
25 CC2D2A NM_001080522.2(CC2D2A): c.4179+1delG (p.Gly1394Valfs) deletion Pathogenic rs386833760 GRCh37 Chromosome 4, 15589553: 15589553
26 CC2D2A NM_001080522.2(CC2D2A): c.4179+1delG (p.Gly1394Valfs) deletion Pathogenic rs386833760 GRCh38 Chromosome 4, 15587930: 15587930
27 CC2D2A NM_001080522.2(CC2D2A): c.685_687delGAA (p.Glu229del) deletion Conflicting interpretations of pathogenicity rs386833764 GRCh37 Chromosome 4, 15513014: 15513016
28 CC2D2A NM_001080522.2(CC2D2A): c.685_687delGAA (p.Glu229del) deletion Conflicting interpretations of pathogenicity rs386833764 GRCh38 Chromosome 4, 15511391: 15511393
29 MKS1 NM_017777.3(MKS1): c.1048C> G (p.Gln350Glu) single nucleotide variant Likely pathogenic rs386834041 GRCh37 Chromosome 17, 56285921: 56285921
30 MKS1 NM_017777.3(MKS1): c.1048C> G (p.Gln350Glu) single nucleotide variant Likely pathogenic rs386834041 GRCh38 Chromosome 17, 58208560: 58208560
31 MKS1 NM_017777.3(MKS1): c.1048C> T (p.Gln350Ter) single nucleotide variant Likely pathogenic rs386834041 GRCh37 Chromosome 17, 56285921: 56285921
32 MKS1 NM_017777.3(MKS1): c.1048C> T (p.Gln350Ter) single nucleotide variant Likely pathogenic rs386834041 GRCh38 Chromosome 17, 58208560: 58208560
33 MKS1 NM_017777.3(MKS1): c.1407+2delT deletion Likely pathogenic rs386834042 GRCh37 Chromosome 17, 56284444: 56284444
34 MKS1 NM_017777.3(MKS1): c.1407+2delT deletion Likely pathogenic rs386834042 GRCh38 Chromosome 17, 58207083: 58207083
35 MKS1 NM_017777.3(MKS1): c.1450_1453dupGGCA (p.Thr485Argfs) duplication Pathogenic/Likely pathogenic rs386834044 GRCh37 Chromosome 17, 56283863: 56283866
36 MKS1 NM_017777.3(MKS1): c.1450_1453dupGGCA (p.Thr485Argfs) duplication Pathogenic/Likely pathogenic rs386834044 GRCh38 Chromosome 17, 58206502: 58206505
37 MKS1 NM_017777.3(MKS1): c.1490G> A (p.Arg497Lys) single nucleotide variant Likely pathogenic rs386834045 GRCh37 Chromosome 17, 56283826: 56283826
38 MKS1 NM_017777.3(MKS1): c.1490G> A (p.Arg497Lys) single nucleotide variant Likely pathogenic rs386834045 GRCh38 Chromosome 17, 58206465: 58206465
39 MKS1 NM_017777.3(MKS1): c.184_190delACTGCCA (p.Thr62Valfs) deletion Likely pathogenic rs386834046 GRCh37 Chromosome 17, 56295981: 56295987
40 MKS1 NM_017777.3(MKS1): c.184_190delACTGCCA (p.Thr62Valfs) deletion Likely pathogenic rs386834046 GRCh38 Chromosome 17, 58218620: 58218626
41 MKS1 NM_017777.3(MKS1): c.392_393delCT (p.Ser131Terfs) deletion Likely pathogenic rs386834047 GRCh37 Chromosome 17, 56293473: 56293474
42 MKS1 NM_017777.3(MKS1): c.392_393delCT (p.Ser131Terfs) deletion Likely pathogenic rs386834047 GRCh38 Chromosome 17, 58216112: 58216113
43 MKS1 NM_017777.3(MKS1): c.424C> T (p.Gln142Ter) single nucleotide variant Likely pathogenic rs386834049 GRCh37 Chromosome 17, 56292193: 56292193
44 MKS1 NM_017777.3(MKS1): c.424C> T (p.Gln142Ter) single nucleotide variant Likely pathogenic rs386834049 GRCh38 Chromosome 17, 58214832: 58214832
45 MKS1 NM_017777.3(MKS1): c.472C> T (p.Arg158Ter) single nucleotide variant Likely pathogenic rs386834050 GRCh37 Chromosome 17, 56292145: 56292145
46 MKS1 NM_017777.3(MKS1): c.472C> T (p.Arg158Ter) single nucleotide variant Likely pathogenic rs386834050 GRCh38 Chromosome 17, 58214784: 58214784
47 MKS1 NM_017777.3(MKS1): c.515+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs201933838 GRCh37 Chromosome 17, 56292101: 56292101
48 MKS1 NM_017777.3(MKS1): c.515+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs201933838 GRCh38 Chromosome 17, 58214740: 58214740
49 MKS1 NM_017777.3(MKS1): c.51_55dupCCGGG (p.Asp19Alafs) duplication Likely pathogenic rs386834051 GRCh37 Chromosome 17, 56296537: 56296541
50 MKS1 NM_017777.3(MKS1): c.51_55dupCCGGG (p.Asp19Alafs) duplication Likely pathogenic rs386834051 GRCh38 Chromosome 17, 58219176: 58219180

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 17)
# Name GO ID Score Top Affiliating Genes
1 microtubule organizing center GO:0005815 9.95 CEP290 CEP55 CSPP1 MKS1 NPHP4 RPGRIP1L
2 ciliary basal body GO:0036064 9.91 B9D1 B9D2 CEP290 MKS1 NPHP4 RPGRIP1L
3 axoneme GO:0005930 9.8 ARL13B RPGRIP1 RPGRIP1L WDPCP
4 photoreceptor connecting cilium GO:0032391 9.8 CEP290 NPHP1 NPHP4 RPGRIP1 RPGRIP1L
5 ciliary membrane GO:0060170 9.76 ARL13B TCTN2 TMEM231 TMEM67
6 cell-cell junction GO:0005911 9.74 NPHP1 NPHP4 RPGRIP1L
7 centriole GO:0005814 9.73 CEP290 CEP55 MKS1
8 ciliary transition zone GO:0035869 9.73 B9D1 B9D2 CC2D2A CEP290 MKS1 NPHP4
9 bicellular tight junction GO:0005923 9.72 NPHP1 NPHP4 RPGRIP1L
10 non-motile cilium GO:0097730 9.69 ARL13B NPHP4 RPGRIP1
11 MKS complex GO:0036038 9.36 B9D1 B9D2 CC2D2A CEP290 MKS1 TCTN1
12 membrane GO:0016020 10.41 ARL13B B9D1 B9D2 CEP290 CEP55 MKS1
13 cytoplasm GO:0005737 10.4 B9D1 B9D2 CC2D2A CEP290 CEP55 CSPP1
14 cytoskeleton GO:0005856 10.2 B9D1 B9D2 CC2D2A CEP290 CEP55 CSPP1
15 cell projection GO:0042995 10.19 ARL13B B9D1 B9D2 CC2D2A CEP290 MKS1
16 centrosome GO:0005813 10.02 B9D1 B9D2 CEP290 CEP55 CSPP1 MKS1
17 cilium GO:0005929 10 ARL13B B9D2 CC2D2A CEP290 MKS1 NPHP1

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

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 in utero embryonic development GO:0001701 9.85 B9D1 RPGRIP1L TCTN1 TMEM231
2 camera-type eye development GO:0043010 9.8 B9D1 CC2D2A RPGRIP1L TMEM231 WDPCP
3 smoothened signaling pathway GO:0007224 9.8 ARL13B B9D1 CC2D2A TCTN2 TMEM231 WDPCP
4 determination of left/right symmetry GO:0007368 9.78 ARL13B CC2D2A MKS1 RPGRIP1L
5 embryonic digit morphogenesis GO:0042733 9.77 B9D1 MKS1 TMEM107 TMEM231 WDPCP
6 cell projection organization GO:0030030 9.77 B9D1 B9D2 CC2D2A CEP290 MKS1 NPHP1
7 retina development in camera-type eye GO:0060041 9.73 NPHP1 NPHP4 RPGRIP1
8 non-motile cilium assembly GO:1905515 9.73 ARL13B CC2D2A MKS1 RPGRIP1L TMEM107 TMEM216
9 regulation of protein localization GO:0032880 9.71 B9D1 TMEM231 WDPCP
10 regulation of smoothened signaling pathway GO:0008589 9.67 MKS1 RPGRIP1L TCTN1
11 neural tube patterning GO:0021532 9.63 ARL13B RPGRIP1L TMEM107
12 telencephalon development GO:0021537 9.61 RPGRIP1L TCTN1
13 motile cilium assembly GO:0044458 9.61 CC2D2A MKS1
14 protein localization to ciliary transition zone GO:1904491 9.61 CC2D2A TCTN1 TMEM107
15 vasculature development GO:0001944 9.6 B9D1 TMEM231
16 eye photoreceptor cell development GO:0042462 9.59 CEP290 RPGRIP1
17 head development GO:0060322 9.58 MKS1 RPGRIP1L
18 embryonic brain development GO:1990403 9.58 CC2D2A MKS1
19 neuroepithelial cell differentiation GO:0060563 9.57 B9D1 TMEM231
20 visual behavior GO:0007632 9.52 NPHP1 NPHP4
21 positive regulation of bicellular tight junction assembly GO:1903348 9.51 NPHP1 NPHP4
22 ciliary basal body-plasma membrane docking GO:0097711 9.4 B9D1 B9D2 CC2D2A CEP290 MKS1 NPHP1
23 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
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37 KEGG
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42 MedGen
44 MeSH
45 MESH via Orphanet
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49 NCI
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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