MCID: MCK013
MIFTS: 62

Meckel Syndrome, Type 1

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

Aliases & Classifications for Meckel Syndrome, Type 1

MalaCards integrated aliases for Meckel Syndrome, Type 1:

Name: Meckel Syndrome, Type 1 53
Meckel Syndrome 53 12 72 49 24 55 36 14
Meckel-Gruber Syndrome 53 12 24 55 71 28 69
Dysencephalia Splanchnocystica 53 24 71
Meckel Syndrome 1 53 71 13
Gruber Syndrome 53 49 71
Mks 53 49 24
Meckel Syndrome Type 1 28 69
Mks1 53 71
Mes 53 71
Meckel-Gruber Syndrome, Type 1 53
Dysencephalia Splachnocystica 49
Meckel Gruber Syndrome 49
Meckel Syndrome; Mks 53

Characteristics:

Orphanet epidemiological data:

55
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:

53
Inheritance:
autosomal recessive

Miscellaneous:
prenatal diagnosis by ultrasound
perinatal death


HPO:

31
meckel syndrome, type 1:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Meckel Syndrome, Type 1

OMIM : 53 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 syndrome, is related to bardet-biedl syndrome 13 and ciliopathy, and has symptoms including hypertelorism, hydrocephalus and cataract. 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 cellular and embryo

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 : 24 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 : 49 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 : 71 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 : 72 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 155)
# Related Disease Score Top Affiliating Genes
1 bardet-biedl syndrome 13 33.1 CC2D2A CEP290 MKS1 RPGRIP1L TMEM67 WDPCP
2 ciliopathy 32.3 ARL13B B9D1 B9D2 CC2D2A CEP290 MKS1
3 bardet-biedl syndrome 32.3 ARL13B CEP290 MKS1 RPGRIP1L TMEM67 WDPCP
4 hydrolethalus syndrome 1 32.1 MKS1 TMEM216 TMEM67
5 bardet-biedl syndrome 11 32.0 CC2D2A MKS1 TMEM67
6 senior-loken syndrome 1 32.0 ARL13B CC2D2A CEP290 MKS1 TMEM216 TMEM67
7 nephronophthisis 31.8 ARL13B CC2D2A CEP290 MKS1 RPGRIP1 RPGRIP1L
8 joubert syndrome 1 31.7 ARL13B B9D1 B9D2 CC2D2A CEP290 CSPP1
9 encephalocele 31.6 B9D1 B9D2 CC2D2A CEP290 MKS1 RPGRIP1L
10 joubert syndrome 28 11.6
11 chronic fatigue syndrome 11.6
12 mckusick-kaufman syndrome 11.2
13 menkes disease 11.2
14 polydactyly 11.0
15 apraxia 11.0
16 aplastic anemia 11.0
17 hemolytic anemia 11.0
18 malignant spiradenoma 11.0
19 nephronophthisis 1 10.9
20 meckel syndrome, type 7 10.9
21 meckel syndrome, type 2 10.9
22 meckel syndrome, type 3 10.9
23 meckel syndrome, type 4 10.9
24 meckel syndrome, type 8 10.9
25 meckel syndrome, type 9 10.9
26 atrial standstill 1 10.8
27 pernicious anemia 10.8
28 fanconi anemia, complementation group a 10.8
29 hemochromatosis, type 1 10.8
30 cartilage-hair hypoplasia 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 chronic kidney failure 10.8
37 joubert syndrome with ocular anomalies 10.8
38 congenital hepatic fibrosis 10.5 CC2D2A RPGRIP1L TMEM67
39 coach syndrome 10.5 CC2D2A RPGRIP1L TMEM67
40 joubert syndrome with oculorenal anomalies 10.5 CC2D2A CEP290 TMEM216 TMEM231
41 bardet-biedl syndrome 15 10.5 CC2D2A RPGRIP1L TMEM67 WDPCP
42 orofaciodigital syndrome vi 10.4 ARL13B TCTN1 TMEM216 TMEM231
43 fundus dystrophy 10.4 CC2D2A CEP290 RPGRIP1 TMEM67
44 orofaciodigital syndrome i 10.4 CEP290 TMEM107
45 asphyxiating thoracic dystrophy 10.3 ARL13B CSPP1 RPGRIP1L TCTN1 TCTN2
46 bardet-biedl syndrome 14 10.2 CEP290 TMEM67
47 sarcoma 10.1
48 uterine sarcoma 10.1
49 prostatitis 10.0
50 episodic pain syndrome, familial, 1 9.9

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:

53
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 Gastroin testinal:
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

Abdomen Spleen:
splenomegaly
asplenia
accessory spleen

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

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:

55 31 (show top 50) (show all 89)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 55 31 frequent (33%) Frequent (79-30%) HP:0000316
2 hydrocephalus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000238
3 cataract 55 31 frequent (33%) Frequent (79-30%) HP:0000518
4 bowing of the long bones 55 31 occasional (7.5%) Occasional (29-5%) HP:0006487
5 microcephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0000252
6 optic atrophy 55 31 frequent (33%) Frequent (79-30%) HP:0000648
7 full cheeks 55 31 frequent (33%) Frequent (79-30%) HP:0000293
8 cleft palate 55 31 frequent (33%) Frequent (79-30%) HP:0000175
9 micrognathia 55 31 frequent (33%) Frequent (79-30%) HP:0000347
10 cryptorchidism 55 31 frequent (33%) Frequent (79-30%) HP:0000028
11 depressed nasal ridge 55 31 frequent (33%) Frequent (79-30%) HP:0000457
12 microphthalmia 55 31 frequent (33%) Frequent (79-30%) HP:0000568
13 multicystic kidney dysplasia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000003
14 pancreatic cysts 55 31 occasional (7.5%) Occasional (29-5%) HP:0001737
15 low-set, posteriorly rotated ears 55 31 frequent (33%) Frequent (79-30%) HP:0000368
16 congenital hepatic fibrosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0002612
17 aplasia/hypoplasia of the iris 55 31 frequent (33%) Frequent (79-30%) HP:0008053
18 oligohydramnios 55 31 frequent (33%) Frequent (79-30%) HP:0001562
19 sclerocornea 55 31 frequent (33%) Frequent (79-30%) HP:0000647
20 male pseudohermaphroditism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000037
21 pancreatic fibrosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0100732
22 preaxial hand polydactyly 55 31 occasional (7.5%) Occasional (29-5%) HP:0001177
23 microcornea 55 31 frequent (33%) Frequent (79-30%) HP:0000482
24 furrowed tongue 55 31 occasional (7.5%) Occasional (29-5%) HP:0000221
25 aplasia/hypoplasia of the corpus callosum 55 31 occasional (7.5%) Occasional (29-5%) HP:0007370
26 postaxial hand polydactyly 55 31 hallmark (90%) Very frequent (99-80%) HP:0001162
27 postaxial foot polydactyly 55 31 hallmark (90%) Very frequent (99-80%) HP:0001830
28 urethral atresia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000068
29 ureteral duplication 55 31 occasional (7.5%) Occasional (29-5%) HP:0000073
30 sloping forehead 55 31 frequent (33%) Frequent (79-30%) HP:0000340
31 anophthalmia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000528
32 dandy-walker malformation 55 31 occasional (7.5%) Occasional (29-5%) HP:0001305
33 situs inversus totalis 55 31 occasional (7.5%) Occasional (29-5%) HP:0001696
34 asplenia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001746
35 accessory spleen 55 31 occasional (7.5%) Occasional (29-5%) HP:0001747
36 talipes 55 31 frequent (33%) Frequent (79-30%) HP:0001883
37 encephalocele 55 31 hallmark (90%) Very frequent (99-80%) HP:0002084
38 anencephaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0002323
39 cystic liver disease 55 31 occasional (7.5%) Occasional (29-5%) HP:0006706
40 lobar holoprosencephaly 55 31 frequent (33%) Frequent (79-30%) HP:0006870
41 aplasia/hypoplasia of the tongue 55 31 occasional (7.5%) Occasional (29-5%) HP:0010295
42 true hermaphroditism 55 31 occasional (7.5%) Occasional (29-5%) HP:0010459
43 low-set ears 31 HP:0000369
44 short neck 31 HP:0000470
45 agenesis of corpus callosum 31 HP:0001274
46 clinodactyly 31 HP:0030084
47 splenomegaly 31 HP:0001744
48 malformation of the heart and great vessels 55 Occasional (29-5%)
49 patent ductus arteriosus 31 HP:0001643
50 intrauterine growth retardation 31 HP:0001511

MGI Mouse Phenotypes related to Meckel Syndrome, Type 1:

43 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.21 B9D1 B9D2 CC2D2A CEP290 MKS1 TCTN1
2 embryo MP:0005380 10.2 TMEM107 TMEM231 TMEM67 WDPCP ARL13B B9D1
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 CC2D2A CEP290 MKS1
5 craniofacial MP:0005382 10.15 B9D1 CC2D2A CEP290 MKS1 RPGRIP1L TCTN2
6 digestive/alimentary MP:0005381 10.13 B9D1 B9D2 TCTN2 TMEM107 TMEM67 WDPCP
7 limbs/digits/tail MP:0005371 10.1 MKS1 RPGRIP1L TCTN1 TCTN2 TMEM107 TMEM231
8 mortality/aging MP:0010768 10.1 B9D2 CC2D2A CEP290 MKS1 RPGRIP1L TCTN1
9 nervous system MP:0003631 10.1 ARL13B B9D1 CC2D2A CEP290 LRRCC1 MKS1
10 liver/biliary system MP:0005370 9.91 B9D1 B9D2 CEP290 MKS1 RPGRIP1L TMEM107
11 renal/urinary system MP:0005367 9.76 B9D1 CC2D2A CEP290 MKS1 RPGRIP1L TMEM107
12 respiratory system MP:0005388 9.5 ARL13B B9D2 CC2D2A CEP290 MKS1 RPGRIP1L
13 vision/eye MP:0005391 9.32 B9D1 CC2D2A CEP290 MKS1 RPGRIP1 RPGRIP1L

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 28
2 Meckel Syndrome Type 1 28 MKS1

Anatomical Context for Meckel Syndrome, Type 1

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

38
Kidney, Liver, Brain, Lung, Bone, Tongue, Placenta

Publications for Meckel Syndrome, Type 1

Articles related to Meckel Syndrome, Type 1:

(show top 50) (show all 104)
# Title Authors Year
1
TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone. ( 25869670 )
2015
2
Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome. ( 24886560 )
2014
3
The Meckel syndrome protein meckelin (TMEM67) is a key regulator of cilia function but is not required for tissue planar polarity. ( 23393159 )
2013
4
Meckelin 3 is necessary for photoreceptor outer segment development in rat Meckel syndrome. ( 23516626 )
2013
5
12q21 Microdeletion in a fetus with Meckel syndrome involving CEP290/MKS4. ( 23954617 )
2013
6
Analysis of human samples reveals impaired SHH-dependent cerebellar development in Joubert syndrome/Meckel syndrome. ( 23027964 )
2012
7
Acceleration of the meckel syndrome by near-infrared light therapy. ( 22470396 )
2011
8
B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis. ( 21493627 )
2011
9
Disruption of a ciliary B9 protein complex causes Meckel syndrome. ( 21763481 )
2011
10
Meckel syndrome with Caroli disease and choledochal cysts. ( 21843058 )
2011
11
Clinical utility gene card for: Meckel syndrome. ( 21368913 )
2011
12
Differential expression of renal proteins in a rodent model of Meckel syndrome. ( 20693816 )
2011
13
Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins. ( 19208769 )
2009
14
A mouse model for Meckel syndrome reveals Mks1 is required for ciliogenesis and Hedgehog signaling. ( 19776033 )
2009
15
Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups? ( 19466712 )
2009
16
A mouse model for Meckel syndrome type 3. ( 19211713 )
2009
17
Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3. ( 19515853 )
2009
18
Lack of cilia and differentiation defects in the liver of human foetuses with the Meckel syndrome. ( 17976156 )
2008
19
Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle. ( 18513680 )
2008
20
Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. ( 17564974 )
2007
21
Meckel syndrome in the Hutterite population is actually a Joubert-related cerebello-oculo-renal syndrome. ( 17603801 )
2007
22
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. ( 17558409 )
2007
23
Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online. ( 17397051 )
2007
24
Meckel syndrome: genetics, perinatal findings, and differential diagnosis. ( 17389183 )
2007
25
MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome. ( 16415886 )
2006
26
The beat goes on: ciliary proteins are defective in Meckel syndrome. ( 16650076 )
2006
27
Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome. ( 15666242 )
2005
28
Comparative physical maps of the human and mouse Meckel syndrome critical regions. ( 15112103 )
2004
29
Study of the malformation of ductal plate of the liver in Meckel syndrome and review of other syndromes presenting with this anomaly. ( 11000335 )
2000
30
Contribution of apoptosis and apoptosis-related proteins to the malformation of the primitive intrahepatic biliary system in Meckel syndrome. ( 10793071 )
2000
31
Prenatal diagnosis of Meckel syndrome: a case report. ( 10533329 )
1999
32
Skeletal malformations in fetuses with Meckel syndrome. ( 10360401 )
1999
33
Characterization of a novel gene, PNUTL2, on human chromosome 17q22- q23 and its exclusion as the Meckel syndrome gene. ( 9889007 )
1999
34
Malformations of cranial base structures and pituitary gland in prenatal Meckel syndrome. ( 10549591 )
1999
35
High-resolution physical and genetic mapping of the critical region for Meckel syndrome and Mulibrey Nanism on chromosome 17q22-q23. ( 10077533 )
1999
36
A gene for Meckel syndrome maps to chromosome 11q13. ( 9758620 )
1998
37
Meckel syndrome. ( 9643292 )
1998
38
Exclusion of the p75 neurotrophin receptor gene as a candidate gene for Meckel syndrome. ( 9220190 )
1997
39
Genetic heterogeneity of Meckel syndrome. ( 9429143 )
1997
40
Clinical and genetic heterogeneity in Meckel syndrome. ( 9385376 )
1997
41
Associated malformations in the family of a patient with Meckel syndrome: heterozygous expression? ( 9391891 )
1997
42
Skeletal abnormalities in Meckel syndrome. ( 9211556 )
1997
43
The Meckel syndrome: report of two Japanese sibs and a review of literature. ( 8725749 )
1996
44
Meckel syndrome and Dandy Walker malformation. ( 8867663 )
1996
45
Dandy-Walker malformation in the Meckel syndrome. ( 7702098 )
1995
46
The locus for Meckel syndrome with multiple congenital anomalies maps to chromosome 17q21-q24. ( 7550354 )
1995
47
Polydactyly in a carrier of the gene for the Meckel syndrome. ( 7856653 )
1994
48
Meckel syndrome: what are the minimum diagnostic criteria? ( 8071976 )
1994
49
Survival in an infant with a prenatally diagnosed Meckel syndrome variant. ( 8476485 )
1993
50
Meckel syndrome: prenatal ultrasonographic diagnosis in two cases showing marked differences in phenotypic expression. ( 1632751 )
1992

Variations for Meckel Syndrome, Type 1

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

71
# 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 64)
# Gene Variation Type Significance SNP ID Assembly Location
1 MKS1 NM_017777.3(MKS1): c.1048C> G (p.Gln350Glu) single nucleotide variant Likely pathogenic rs386834041 GRCh37 Chromosome 17, 56285921: 56285921
2 MKS1 NM_017777.3(MKS1): c.1048C> T (p.Gln350Ter) single nucleotide variant Likely pathogenic rs386834041 GRCh37 Chromosome 17, 56285921: 56285921
3 MKS1 NM_017777.3(MKS1): c.1407+2delT deletion Likely pathogenic rs386834042 GRCh37 Chromosome 17, 56284444: 56284444
4 MKS1 NM_017777.3(MKS1): c.1450_1453dupGGCA (p.Thr485Argfs) duplication Pathogenic/Likely pathogenic rs386834044 GRCh37 Chromosome 17, 56283863: 56283866
5 MKS1 NM_017777.3(MKS1): c.1490G> A (p.Arg497Lys) single nucleotide variant Likely pathogenic rs386834045 GRCh37 Chromosome 17, 56283826: 56283826
6 MKS1 NM_017777.3(MKS1): c.184_190delACTGCCA (p.Thr62Valfs) deletion Likely pathogenic rs386834046 GRCh37 Chromosome 17, 56295981: 56295987
7 MKS1 NM_017777.3(MKS1): c.392_393delCT (p.Ser131Terfs) deletion Likely pathogenic rs386834047 GRCh37 Chromosome 17, 56293473: 56293474
8 MKS1 NM_017777.3(MKS1): c.424C> T (p.Gln142Ter) single nucleotide variant Likely pathogenic rs386834049 GRCh37 Chromosome 17, 56292193: 56292193
9 MKS1 NM_017777.3(MKS1): c.472C> T (p.Arg158Ter) single nucleotide variant Likely pathogenic rs386834050 GRCh37 Chromosome 17, 56292145: 56292145
10 MKS1 NM_017777.3(MKS1): c.515+1G> A single nucleotide variant Likely pathogenic rs201933838 GRCh37 Chromosome 17, 56292101: 56292101
11 MKS1 NM_017777.3(MKS1): c.51_55dupCCGGG (p.Asp19Alafs) duplication Likely pathogenic rs386834051 GRCh37 Chromosome 17, 56296537: 56296541
12 MKS1 NM_017777.3(MKS1): c.958G> A (p.Val320Ile) single nucleotide variant Likely pathogenic rs386834053 GRCh37 Chromosome 17, 56288341: 56288341
13 TMEM67 NM_153704.5(TMEM67): c.1046T> C (p.Leu349Ser) single nucleotide variant Pathogenic/Likely pathogenic rs386834180 GRCh37 Chromosome 8, 94793953: 94793953
14 TMEM231 NM_001077416.2(TMEM231): c.823G> A (p.Val275Ile) single nucleotide variant Pathogenic/Likely pathogenic rs397514753 GRCh37 Chromosome 16, 75576500: 75576500
15 CEP290 NM_025114.3(CEP290): c.3175dupA (p.Ile1059Asnfs) duplication Pathogenic rs62640570 GRCh37 Chromosome 12, 88487681: 88487681
16 CSPP1 NM_024790.6(CSPP1): c.2244_2247delAAGA (p.Glu750Lysfs) deletion Pathogenic/Likely pathogenic rs587777145 GRCh37 Chromosome 8, 68070699: 68070702
17 CC2D2A NM_001080522.2(CC2D2A): c.394C> T (p.Arg132Ter) single nucleotide variant Pathogenic rs377177061 GRCh37 Chromosome 4, 15504502: 15504502
18 CC2D2A NM_001080522.2(CC2D2A): c.4384T> C (p.Trp1462Arg) single nucleotide variant Likely pathogenic rs368720062 GRCh37 Chromosome 4, 15597777: 15597777
19 CC2D2A NM_001080522.2(CC2D2A): c.4407C> G (p.Ser1469Arg) single nucleotide variant Likely pathogenic rs587779732 GRCh38 Chromosome 4, 15596177: 15596177
20 CEP290 NM_025114.3(CEP290): c.4621delA (p.Thr1541Profs) deletion Pathogenic rs587779733 GRCh37 Chromosome 12, 88478446: 88478446
21 TMEM67 NM_153704.5(TMEM67): c.748G> A (p.Gly250Arg) single nucleotide variant Likely pathogenic rs587779736 GRCh38 Chromosome 8, 93780626: 93780626
22 CEP290 NM_025114.3(CEP290): c.6869dupA (p.Asn2290Lysfs) duplication Pathogenic rs587783017 GRCh37 Chromosome 12, 88449444: 88449444
23 TMEM237 NM_001044385.2(TMEM237): c.869+1G> A single nucleotide variant Likely pathogenic rs730882231 GRCh38 Chromosome 2, 201629229: 201629229
24 EVC2 NM_147127.4(EVC2) duplication Likely pathogenic rs730882232 GRCh38 Chromosome 4, 5562882: 5562905
25 EXOC4 NM_021807.3(EXOC4): c.1733A> G (p.Gln578Arg) single nucleotide variant Likely pathogenic rs730882233 GRCh38 Chromosome 7, 133817543: 133817543
26 MKS1 NM_017777.3(MKS1): c.1066C> T (p.Gln356Ter) single nucleotide variant Pathogenic/Likely pathogenic rs786205508 GRCh38 Chromosome 17, 58208542: 58208542
27 MKS1 NM_001165927.1(MKS1): c.995-2A> C single nucleotide variant Pathogenic rs794727070 GRCh37 Chromosome 17, 56285946: 56285946
28 RPGRIP1L NM_015272.4(RPGRIP1L): c.685G> A (p.Ala229Thr) single nucleotide variant risk factor rs61747071 GRCh37 Chromosome 16, 53720436: 53720436
29 CEP290 NM_025114.3(CEP290): c.5668G> T (p.Gly1890Ter) single nucleotide variant Pathogenic rs137852832 GRCh37 Chromosome 12, 88471040: 88471040
30 CEP290 NM_025114.3(CEP290): c.2991+1655A> G single nucleotide variant Pathogenic rs281865192 GRCh37 Chromosome 12, 88494960: 88494960
31 TMEM67 NM_153704.5(TMEM67): c.622A> T (p.Arg208Ter) single nucleotide variant Pathogenic rs137853108 GRCh37 Chromosome 8, 94777845: 94777845
32 TMEM67 NM_153704.5(TMEM67): c.1843T> C (p.Cys615Arg) single nucleotide variant Pathogenic/Likely pathogenic rs201893408 GRCh37 Chromosome 8, 94808198: 94808198
33 MKS1 NM_017777.3(MKS1): c.50_54dupCCCGG (p.Asp19Profs) duplication Pathogenic rs730880323 GRCh37 Chromosome 17, 56296538: 56296542
34 MKS1 NM_017777.3(MKS1): c.80+2T> C single nucleotide variant Pathogenic/Likely pathogenic rs386834052 GRCh37 Chromosome 17, 56296510: 56296510
35 MKS1 NM_017777.3(MKS1): c.1024+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs199874059 GRCh37 Chromosome 17, 56288019: 56288019
36 MKS1 NM_017777.3(MKS1): c.844C> T (p.Arg282Ter) single nucleotide variant Pathogenic rs797045706 GRCh38 Chromosome 17, 58212996: 58212996
37 CC2D2A NM_001080522.2(CC2D2A): c.1558C> T (p.Arg520Ter) single nucleotide variant Pathogenic rs781252161 GRCh37 Chromosome 4, 15534907: 15534907
38 CEP290 NM_025114.3(CEP290): c.4966_4967delGA (p.Glu1656Asnfs) deletion Pathogenic rs756302731 GRCh37 Chromosome 12, 88476853: 88476854
39 TXNDC15 NM_024715.3(TXNDC15): c.103+1G> A single nucleotide variant Likely pathogenic rs886039792 GRCh38 Chromosome 5, 134874531: 134874531
40 TXNDC15 NM_024715.3(TXNDC15): c.672_686delCAGTTTGGCCCCTCA (p.Ser225_His229del) deletion Likely pathogenic rs886039791 GRCh38 Chromosome 5, 134893572: 134893586
41 TMEM138 NM_016464.4(TMEM138): c.134A> G (p.Gln45Arg) single nucleotide variant Likely pathogenic rs886039804 GRCh38 Chromosome 11, 61366050: 61366050
42 CEP290 NM_025114.3(CEP290): c.673_674delTT (p.Leu225Asnfs) deletion Pathogenic rs886039805 GRCh37 Chromosome 12, 88523649: 88523650
43 KIAA0586 NM_001244189.1(KIAA0586): c.2566T> G (p.Ser856Ala) single nucleotide variant Likely pathogenic rs886039806 GRCh38 Chromosome 14, 58467887: 58467887
44 MKS1 NM_017777.3(MKS1): c.261+2T> A single nucleotide variant Pathogenic rs886039803 GRCh38 Chromosome 17, 58216664: 58216664
45 EXOC3L2 NM_138568.4(EXOC3L2): c.398dup (p.Leu134Thrfs) duplication Likely pathogenic rs886039793 GRCh37 Chromosome 19, 45730926: 45730926
46 CEP290 NM_025114.3(CEP290): c.4437+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs760915898 GRCh37 Chromosome 12, 88479815: 88479815
47 MKS1 NM_017777.3(MKS1): c.1394delC (p.Pro465Glnfs) deletion Likely pathogenic rs865870355 GRCh37 Chromosome 17, 56284459: 56284459
48 MKS1 NM_017777.3(MKS1): c.367dupC (p.Arg123Profs) duplication Likely pathogenic rs775043799 GRCh38 Chromosome 17, 58216138: 58216138
49 CEP290 NM_025114.3(CEP290): c.451C> T (p.Arg151Ter) single nucleotide variant Pathogenic rs757641323 GRCh37 Chromosome 12, 88524986: 88524986
50 CC2D2A NC_000004.12: g.(?_15478723)_(15480827_?)del deletion Pathogenic GRCh37 Chromosome 4, 15480347: 15482451

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 10.34 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 20)
# Name GO ID Score Top Affiliating Genes
1 in utero embryonic development GO:0001701 9.83 B9D1 RPGRIP1L TCTN1 TMEM231
2 camera-type eye development GO:0043010 9.8 B9D1 CC2D2A RPGRIP1L TMEM231 WDPCP
3 determination of left/right symmetry GO:0007368 9.78 ARL13B CC2D2A MKS1 RPGRIP1L
4 embryonic digit morphogenesis GO:0042733 9.77 B9D1 MKS1 TMEM107 TMEM231 WDPCP
5 smoothened signaling pathway GO:0007224 9.73 ARL13B B9D1 CC2D2A TCTN2 TMEM231 WDPCP
6 cell projection organization GO:0030030 9.73 B9D1 B9D2 CC2D2A CEP290 MKS1 TCTN1
7 non-motile cilium assembly GO:1905515 9.72 ARL13B CC2D2A MKS1 RPGRIP1L TMEM107
8 regulation of protein localization GO:0032880 9.69 B9D1 TMEM231 WDPCP
9 regulation of smoothened signaling pathway GO:0008589 9.67 MKS1 RPGRIP1L TCTN1
10 neural tube patterning GO:0021532 9.63 ARL13B RPGRIP1L TMEM107
11 protein localization to ciliary transition zone GO:1904491 9.61 CC2D2A TCTN1 TMEM107
12 telencephalon development GO:0021537 9.59 RPGRIP1L TCTN1
13 vasculature development GO:0001944 9.58 B9D1 TMEM231
14 motile cilium assembly GO:0044458 9.58 CC2D2A MKS1
15 eye photoreceptor cell development GO:0042462 9.57 CEP290 RPGRIP1
16 head development GO:0060322 9.56 MKS1 RPGRIP1L
17 embryonic brain development GO:1990403 9.55 CC2D2A MKS1
18 neuroepithelial cell differentiation GO:0060563 9.54 B9D1 TMEM231
19 ciliary basal body-plasma membrane docking GO:0097711 9.32 B9D1 B9D2 CC2D2A CEP290 MKS1 RPGRIP1L
20 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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