MKS1
MCID: MCK013
MIFTS: 65

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 56 39
Meckel-Gruber Syndrome 56 12 25 58 73 29 6 71
Meckel Syndrome 56 12 74 52 25 58 36 15
Meckel Syndrome 1 56 12 73 13 15
Dysencephalia Splanchnocystica 56 25 73
Meckel Syndrome Type 1 29 6 71
Gruber Syndrome 56 52 73
Mks1 56 12 73
Mks 56 52 25
Meckel-Gruber Syndrome, Type 1 56 12
Mes 56 73
Dysencephalia Splachnocystica 52
Meckel Gruber Syndrome 52
Meckel Syndrome; Mks 56
Syndrome, Meckel 39

Characteristics:

Orphanet epidemiological data:

58
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:

56
Inheritance:
autosomal recessive

Miscellaneous:
prenatal diagnosis by ultrasound
perinatal death


HPO:

31
meckel syndrome, type 1:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare renal diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Meckel Syndrome, Type 1

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. Other signs and symptoms of Meckel syndrome vary widely among affected individuals. Numerous abnormalities of the brain and spinal cord (central nervous system) have been reported in people with Meckel syndrome, including a group of birth defects known as neural tube defects. These defects occur when a structure called the neural tube, a layer of cells that ultimately develops into the brain and spinal cord, fails to close completely during the first few weeks of embryonic development. Meckel syndrome can also cause problems with development of the eyes and other facial features, heart, bones, urinary system, and genitalia. Because of their serious health problems, most individuals with Meckel syndrome die before or shortly after birth. Most often, affected infants die of respiratory problems or kidney failure.

MalaCards based summary : Meckel Syndrome, Type 1, also known as meckel-gruber syndrome, is related to meckel syndrome, type 3 and bardet-biedl syndrome 13. An important gene associated with Meckel Syndrome, Type 1 is MKS1 (MKS Transition Zone Complex Subunit 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 heart, and related phenotypes are microcephaly and multicystic kidney dysplasia

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

NIH Rare Diseases : 52 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.

OMIM : 56 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)

KEGG : 36 Meckel syndrome (MKS) is a lethal, autosomal recessive disorder characterized by anomalies of the central nervous system, cystic dysplasia of the kidneys, and malformations of the hands and feet.

UniProtKB/Swiss-Prot : 73 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 : 74 Meckel-Gruber syndrome is a rare, lethal, ciliopathic, genetic disorder, characterized by renal cystic... 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 882)
# Related Disease Score Top Affiliating Genes
1 meckel syndrome, type 3 34.3 TMEM67 TMEM231 TMEM216 TCTN2 TCTN1 RPGRIP1L
2 bardet-biedl syndrome 13 34.1 WDPCP MKS1 CEP290
3 joubert syndrome 1 34.0 WDPCP TMEM67 TMEM231 TMEM216 TMEM107 TCTN2
4 meckel syndrome, type 2 34.0 TMEM67 TMEM231 TMEM216 TCTN2 RPGRIP1L MKS1
5 bardet-biedl syndrome 34.0 WDPCP TMEM67 TMEM231 TMEM216 TCTN2 TCTN1
6 meckel syndrome, type 4 34.0 TMEM67 TMEM231 TMEM216 TCTN2 RPGRIP1L MKS1
7 meckel syndrome, type 8 34.0 TMEM67 TMEM231 TMEM216 TCTN2 RPGRIP1L MKS1
8 nephronophthisis 1 33.9 MKS1 B9D2 B9D1 AHI1
9 nephronophthisis 33.7 TMEM67 TMEM231 TMEM216 TCTN2 TCTN1 RPGRIP1L
10 encephalocele 33.6 TMEM67 MKS1 CEP290 CC2D2A B9D2 B9D1
11 joubert syndrome 6 33.4 TMEM67 TMEM216 RPGRIP1L MKS1 CEP290 CC2D2A
12 joubert syndrome 3 33.1 WDPCP TMEM67 TMEM216 TCTN2 TCTN1 RPGRIP1L
13 meckel syndrome, type 7 33.0 TMEM231 TMEM216 B9D2 B9D1
14 meckel syndrome, type 5 32.9 TMEM67 TMEM231 TMEM216 TCTN2 TCTN1 RPGRIP1L
15 meckel syndrome, type 6 32.9 WDPCP TMEM67 TMEM231 TMEM216 TCTN2 TCTN1
16 pathologic nystagmus 32.9 TMEM67 MKS1 CEP290 AHI1
17 leber congenital amaurosis 6 32.9 RPGRIP1 MKS1 CEP290
18 joubert syndrome 5 32.9 TMEM67 TMEM216 TCTN2 RPGRIP1L OFD1 MKS1
19 joubert syndrome 7 32.9 TMEM67 TMEM216 RPGRIP1L RPGRIP1 MKS1 CEP290
20 orofaciodigital syndrome 32.9 WDPCP TMEM67 TMEM231 TMEM216 TMEM107 TCTN2
21 hydrolethalus syndrome 1 32.9 TMEM67 TMEM216 RPGRIP1L MKS1 CEP290 CC2D2A
22 primary ciliary dyskinesia 32.9 TMEM67 TMEM216 TCTN2 RPGRIP1L RPGRIP1 OFD1
23 cystic kidney disease 32.9 TMEM67 TMEM216 TCTN2 RPGRIP1L OFD1 MKS1
24 fundus dystrophy 32.9 TMEM67 TMEM231 TMEM216 TCTN2 TCTN1 RPGRIP1L
25 polycystic kidney disease 4 with or without polycystic liver disease 32.9 TMEM67 TMEM231 TMEM216 TCTN2 RPGRIP1L OFD1
26 senior-loken syndrome 1 32.9 TMEM67 TMEM231 TMEM216 TCTN2 RPGRIP1L RPGRIP1
27 coloboma of macula 32.9 TMEM67 TMEM231 TMEM216 TCTN2 TCTN1 RPGRIP1L
28 kartagener syndrome 32.9 TMEM67 TMEM216 TCTN2 TCTN1 RPGRIP1L OFD1
29 nephronophthisis 2 32.9 TMEM67 TMEM216 RPGRIP1L OFD1 MKS1 IFT88
30 orofaciodigital syndrome vi 32.9 WDPCP TMEM67 TMEM231 TMEM216 TCTN2 TCTN1
31 visceral heterotaxy 32.9 TMEM67 TMEM216 TCTN2 TCTN1 RPGRIP1L OFD1
32 joubert syndrome 2 32.9 TMEM67 TMEM216 RPGRIP1L OFD1 MKS1 CEP290
33 joubert syndrome 4 32.9 TMEM67 TMEM216 TCTN2 TCTN1 RPGRIP1L OFD1
34 cranioectodermal dysplasia 1 32.9 TMEM67 TCTN2 RPGRIP1L OFD1 MKS1 IFT88
35 bardet-biedl syndrome 14 32.8 WDPCP TMEM67 TMEM216 RPGRIP1L MKS1 CEP290
36 nephronophthisis 9 32.8 TMEM67 TMEM216 RPGRIP1L MKS1 CEP290 B9D2
37 nephronophthisis 11 32.8 TMEM67 TMEM216 RPGRIP1L MKS1 CEP290 CC2D2A
38 retinitis pigmentosa 32.8 WDPCP TMEM67 TMEM216 RPGRIP1L RPGRIP1 OFD1
39 nephronophthisis 7 32.8 TMEM67 RPGRIP1L MKS1 CEP290 CC2D2A
40 bardet-biedl syndrome 8 32.7 WDPCP MKS1 IFT88 CEP290
41 bardet-biedl syndrome 6 32.7 WDPCP MKS1 IFT88 CEP290
42 physical disorder 32.7 OFD1 MKS1 IFT88 CEP290 ARL13B
43 oligohydramnios 32.7 TMEM67 TMEM231 MKS1 CC2D2A
44 polycystic kidney disease 2 with or without polycystic liver disease 32.7 TMEM67 MKS1 IFT88 ARL13B
45 bardet-biedl syndrome 3 32.6 WDPCP MKS1 CEP290
46 bardet-biedl syndrome 16 32.5 WDPCP MKS1
47 bardet-biedl syndrome 18 32.5 WDPCP MKS1
48 bardet-biedl syndrome 15 32.5 WDPCP MKS1
49 bardet-biedl syndrome 11 32.4 WDPCP MKS1
50 congenital hepatic fibrosis 31.6 TMEM67 RPGRIP1L CC2D2A AHI1

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

Human phenotypes related to Meckel Syndrome, Type 1:

58 31 (show top 50) (show all 90)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
2 multicystic kidney dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000003
3 congenital hepatic fibrosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002612
4 postaxial hand polydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001162
5 postaxial foot polydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001830
6 encephalocele 58 31 hallmark (90%) Very frequent (99-80%) HP:0002084
7 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
8 cataract 58 31 frequent (33%) Frequent (79-30%) HP:0000518
9 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
10 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
11 optic atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0000648
12 sloping forehead 58 31 frequent (33%) Frequent (79-30%) HP:0000340
13 full cheeks 58 31 frequent (33%) Frequent (79-30%) HP:0000293
14 cleft palate 58 31 frequent (33%) Frequent (79-30%) HP:0000175
15 depressed nasal ridge 58 31 frequent (33%) Frequent (79-30%) HP:0000457
16 microphthalmia 58 31 frequent (33%) Frequent (79-30%) HP:0000568
17 oligohydramnios 58 31 frequent (33%) Frequent (79-30%) HP:0001562
18 low-set, posteriorly rotated ears 58 31 frequent (33%) Frequent (79-30%) HP:0000368
19 talipes 58 31 frequent (33%) Frequent (79-30%) HP:0001883
20 aplasia/hypoplasia of the iris 58 31 frequent (33%) Frequent (79-30%) HP:0008053
21 sclerocornea 58 31 frequent (33%) Frequent (79-30%) HP:0000647
22 microcornea 58 31 frequent (33%) Frequent (79-30%) HP:0000482
23 lobar holoprosencephaly 58 31 frequent (33%) Frequent (79-30%) HP:0006870
24 abnormal chorioretinal morphology 31 frequent (33%) HP:0000532
25 hydrocephalus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000238
26 bowing of the long bones 58 31 occasional (7.5%) Occasional (29-5%) HP:0006487
27 dandy-walker malformation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001305
28 pancreatic cysts 58 31 occasional (7.5%) Occasional (29-5%) HP:0001737
29 anophthalmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000528
30 preaxial hand polydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001177
31 male pseudohermaphroditism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000037
32 pancreatic fibrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100732
33 furrowed tongue 58 31 occasional (7.5%) Occasional (29-5%) HP:0000221
34 aplasia/hypoplasia of the corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0007370
35 urethral atresia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000068
36 ureteral duplication 58 31 occasional (7.5%) Occasional (29-5%) HP:0000073
37 situs inversus totalis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001696
38 asplenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001746
39 accessory spleen 58 31 occasional (7.5%) Occasional (29-5%) HP:0001747
40 anencephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002323
41 cystic liver disease 58 31 occasional (7.5%) Occasional (29-5%) HP:0006706
42 aplasia/hypoplasia of the tongue 58 31 occasional (7.5%) Occasional (29-5%) HP:0010295
43 true hermaphroditism 58 31 occasional (7.5%) Occasional (29-5%) HP:0010459
44 low-set ears 31 HP:0000369
45 short neck 31 HP:0000470
46 agenesis of corpus callosum 31 HP:0001274
47 clinodactyly 31 HP:0030084
48 splenomegaly 31 HP:0001744
49 intrauterine growth retardation 31 HP:0001511
50 malformation of the heart and great vessels 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
microphthalmia
iris coloboma
hypotelorism

Head And Neck Neck:
short neck
webbed neck

Neurologic Central Nervous System:
hydrocephalus
cerebellar hypoplasia
dandy-walker malformation
arnold-chiari malformation
anencephaly
more
Genitourinary Internal Genitalia Male:
cryptorchidism

Head And Neck Head:
microcephaly

Cardiovascular Vascular:
patent ductus arteriosus

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

Abdomen Gastrointestinal:
intestinal malrotation
omphalocele
single umbilical artery
imperforate anus

Genitourinary External Genitalia Female:
ambiguous genitalia
small genitalia

Respiratory Lung:
pulmonary hypoplasia

Genitourinary Kidneys:
renal agenesis
polycystic kidneys

Skeletal Limbs:
bowed long bones

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 Face:
micrognathia
sloping forehead
potter-like facies

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

Cardiovascular Heart:
coarctation of aorta
septal defects

Skeletal Feet:
talipes
polydactyly

Genitourinary External Genitalia Male:
ambiguous genitalia
small genitalia

Prenatal Manifestations Delivery:
breech presentation

Endocrine Features:
adrenal hypoplasia

Abdomen Biliary Tract:
bile duct proliferation
bile duct dilatation

Growth Other:
variable prenatal growth deficiency

Genitourinary Internal Genitalia Female:
separated vagina
uterine abnormalities

Genitourinary Bladder:
hypoplastic bladder

Clinical features from OMIM:

249000

MGI Mouse Phenotypes related to Meckel Syndrome, Type 1:

45 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.39 AHI1 ARL13B B9D1 B9D2 CC2D2A CEP290
2 cardiovascular system MP:0005385 10.3 B9D1 B9D2 CC2D2A CEP290 IFT88 MKS1
3 embryo MP:0005380 10.3 ARL13B B9D1 B9D2 CC2D2A IFT88 MKS1
4 growth/size/body region MP:0005378 10.28 AHI1 ARL13B B9D1 B9D2 CC2D2A CEP290
5 craniofacial MP:0005382 10.27 B9D1 B9D2 CC2D2A CEP290 IFT88 MKS1
6 digestive/alimentary MP:0005381 10.22 B9D1 B9D2 CC2D2A IFT88 MKS1 OFD1
7 limbs/digits/tail MP:0005371 10.22 B9D1 B9D2 CC2D2A IFT88 MKS1 OFD1
8 mortality/aging MP:0010768 10.22 AHI1 ARL13B B9D1 B9D2 CC2D2A CEP290
9 nervous system MP:0003631 10.19 AHI1 ARL13B B9D1 B9D2 CC2D2A CEP290
10 liver/biliary system MP:0005370 9.97 B9D1 B9D2 CEP290 IFT88 MKS1 RPGRIP1L
11 renal/urinary system MP:0005367 9.97 AHI1 ARL13B B9D1 B9D2 CC2D2A CEP290
12 respiratory system MP:0005388 9.61 ARL13B B9D2 CC2D2A CEP290 IFT88 MKS1
13 vision/eye MP:0005391 9.44 AHI1 B9D1 B9D2 CC2D2A CEP290 IFT88

Drugs & Therapeutics for Meckel Syndrome, Type 1

Search Clinical Trials , 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:

40
Kidney, Liver, Heart, Brain, Bone, Lung, Eye

Publications for Meckel Syndrome, Type 1

Articles related to Meckel Syndrome, Type 1:

(show top 50) (show all 262)
# Title Authors PMID Year
1
A TCTN2 mutation defines a novel Meckel Gruber syndrome locus. 61 56 6
21462283 2011
2
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. 61 56 6
17935508 2007
3
Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3. 61 56 6
17377820 2007
4
MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome. 56 6
16415886 2006
5
Mutations in TMEM231 cause Meckel-Gruber syndrome. 61 6
23349226 2013
6
A meckelin-filamin A interaction mediates ciliogenesis. 61 6
22121117 2012
7
Molecular genetics and pathogenic mechanisms for the severe ciliopathies: insights into neurodevelopment and pathogenesis of neural tube defects. 61 56
21110233 2011
8
Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). 61 6
19508969 2009
9
Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome. 61 6
17705300 2008
10
The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation. 61 6
17185389 2007
11
The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat. 61 6
16415887 2006
12
Genetic heterogeneity in neural tube defects. 61 56
1809238 1991
13
A distinctive triad of malformations of the central nervous system in the Meckel-Gruber syndrome. 61 56
2230839 1990
14
Phenotypic variability in Meckel-Gruber syndrome. 61 56
2225527 1990
15
Meckel-Gruber syndrome: ultrasonographic diagnosis at 13 weeks' gestational age in an at-risk case. 61 56
2652130 1989
16
Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome. 6
29891882 2018
17
B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis. 6
21493627 2011
18
Disruption of a ciliary B9 protein complex causes Meckel syndrome. 6
21763481 2011
19
Clinical utility gene card for: Meckel syndrome. 6
21368913 2011
20
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. 6
20512146 2010
21
A mouse model for Meckel syndrome reveals Mks1 is required for ciliogenesis and Hedgehog signaling. 56
19776033 2009
22
Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle. 6
18513680 2008
23
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. 6
17558409 2007
24
Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. 6
17564974 2007
25
Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype. 6
17345604 2007
26
Meckel on developmental pathology. 56
16353245 2006
27
Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome. 56
15666242 2005
28
High-resolution physical and genetic mapping of the critical region for Meckel syndrome and Mulibrey Nanism on chromosome 17q22-q23. 56
10077533 1999
29
Associated anomalies in individuals with polydactyly. 56
9880209 1998
30
Associated malformations in the family of a patient with Meckel syndrome: heterozygous expression? 56
9391891 1997
31
Clinical and genetic heterogeneity in Meckel syndrome. 56
9385376 1997
32
Retinitis pigmentosa, hypopituitarism, nephronophthisis, and mild skeletal dysplasia (RHYNS): a new syndrome? 6
9375913 1997
33
Meckel syndrome and Dandy Walker malformation. 56
8867663 1996
34
The locus for Meckel syndrome with multiple congenital anomalies maps to chromosome 17q21-q24. 56
7550354 1995
35
Dandy-Walker malformation in the Meckel syndrome. 56
7702098 1995
36
Polydactyly in a carrier of the gene for the Meckel syndrome. 56
7856653 1994
37
Meckel syndrome: what are the minimum diagnostic criteria? 56
8071976 1994
38
Cerebro-reno-digital (Meckel-like) syndrome with Dandy-Walker malformation, cystic kidneys, hepatic fibrosis, and polydactyly. 56
8368252 1993
39
On Saraiva and Baraitser and Joubert syndrome: a review. 56
8362922 1993
40
Variability versus heterogeneity in syndromal hypothalamic hamartoblastoma and related disorders: review and delineation of the cerebro-acro-visceral early lethality (CAVE) multiplex syndrome. 56
1621756 1992
41
Familial renal-hepatic-pancreatic dysplasia and Dandy-Walker cyst: a distinct syndrome? 56
1785635 1991
42
Dandy-Walker malformation (variant), cystic dysplastic kidneys, and hepatic fibrosis: a distinct entity or Meckel syndrome? 56
1867280 1991
43
Dandy-Walker malformation in the Meckel syndrome. 56
2063927 1991
44
Pathology of renal and hepatic anomalies in Meckel syndrome. 56
3130875 1987
45
Distal obstructive uropathy with polydactyly: a new syndrome? 56
3740105 1986
46
High incidence of Meckel's syndrome in Gujarati Indians. 56
4045959 1985
47
Visceral anomalies in the Meckel syndrome. 56
3992488 1985
48
Johann Friedrich Meckel the Younger (1781-1833). 56
6385706 1984
49
Gross anatomical studies of a newborn infant with the Meckel syndrome. 56
6486165 1984
50
Meckel syndrome in different populations. 56
6486166 1984

Variations for Meckel Syndrome, Type 1

ClinVar genetic disease variations for Meckel Syndrome, Type 1:

6 (show top 50) (show all 782) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CEP290 NM_025114.3(CEP290):c.6869dupA (p.Asn2290Lysfs)duplication Pathogenic 156386 rs587783017 12:88449443-88449444 12:88055666-88055667
2 CC2D2A NM_001080522.2(CC2D2A):c.1017+1G>ASNV Pathogenic 166801 rs200407856 4:15517628-15517628 4:15516005-15516005
3 RPGRIP1L NM_015272.5(RPGRIP1L):c.1709dup (p.Asp571fs)duplication Pathogenic 188192 rs778149316 16:53686889-53686890 16:53652977-53652978
4 CC2D2A NM_001080522.2(CC2D2A):c.1558C>T (p.Arg520Ter)SNV Pathogenic 217618 rs781252161 4:15534907-15534907 4:15533284-15533284
5 CEP290 NM_025114.3(CEP290):c.4966_4967delGA (p.Glu1656Asnfs)short repeat Pathogenic 217632 rs756302731 12:88476853-88476854 12:88083076-88083077
6 CEP290 NM_025114.3(CEP290):c.4882C>T (p.Gln1628Ter)SNV Pathogenic 217635 rs376493409 12:88476938-88476938 12:88083161-88083161
7 CEP290 NM_025114.3(CEP290):c.4452_4455delAGAA (p.Lys1484Asnfs)short repeat Pathogenic 217628 rs780624853 12:88478612-88478615 12:88084835-88084838
8 CEP290 NM_025114.3(CEP290):c.4393C>T (p.Arg1465Ter)SNV Pathogenic 217626 rs539400286 12:88479860-88479860 12:88086083-88086083
9 CEP290 NM_025114.3(CEP290):c.2112delA (p.Val705Leufs)deletion Pathogenic 217627 rs863225183 12:88505576-88505576 12:88111799-88111799
10 CEP290 NM_025114.3(CEP290):c.1666delA (p.Ile556Phefs)deletion Pathogenic 217622 rs727503855 12:88512305-88512305 12:88118528-88118528
11 RPGRIP1L NM_015272.5(RPGRIP1L):c.1843A>C (p.Thr615Pro)SNV Pathogenic 1069 rs121918198 16:53686756-53686756 16:53652844-53652844
12 RPGRIP1L NM_015272.5(RPGRIP1L):c.2050C>T (p.Gln684Ter)SNV Pathogenic 1076 rs121918204 16:53686549-53686549 16:53652637-53652637
13 CEP290 NM_025114.3(CEP290):c.5668G>T (p.Gly1890Ter)SNV Pathogenic 1333 rs137852832 12:88471040-88471040 12:88077263-88077263
14 CEP290 NM_025114.3(CEP290):c.2991+1655A>GSNV Pathogenic 1337 rs281865192 12:88494960-88494960 12:88101183-88101183
15 TMEM67 NM_001142301.1(TMEM67):c.379A>T (p.Arg127Ter)SNV Pathogenic 1376 rs137853108 8:94777845-94777845 8:93765617-93765617
16 TMEM67 NM_001142301.1(TMEM67):c.2255T>C (p.Ile752Thr)SNV Pathogenic 1378 rs267607119 8:94821126-94821126 8:93808898-93808898
17 MKS1 NM_001165927.1(MKS1):c.50+281_50+285dupduplication Pathogenic 1389 rs730880323 17:56296537-56296538 17:58219176-58219177
18 CC2D2A NM_001080522.2(CC2D2A):c.3289delGdeletion Pathogenic 56303 rs386833751 4:15569299-15569299 4:15567676-15567676
19 CC2D2A NM_001080522.2(CC2D2A):c.4179+1deldeletion Pathogenic 56312 rs386833760 4:15589552-15589552 4:15587929-15587929
20 MKS1 NM_001165927.1(MKS1):c.442C>T (p.Arg148Ter)SNV Pathogenic 56623 rs386834050 17:56292145-56292145 17:58214784-58214784
21 TMEM67 NM_001142301.1(TMEM67):c.1170-1G>CSNV Pathogenic 56767 rs386834185 8:94800071-94800071 8:93787843-93787843
22 CEP290 NM_025114.3(CEP290):c.1984C>T (p.Gln662Ter)SNV Pathogenic 56733 rs386834152 12:88508265-88508265 12:88114488-88114488
23 CEP290 NM_025114.3(CEP290):c.384_387delTAGA (p.Asp128Glufs)deletion Pathogenic 56738 rs386834157 12:88530474-88530477 12:88136697-88136700
24 CEP290 NM_025114.3(CEP290):c.5493delA (p.Ala1832Profs)deletion Pathogenic 56739 rs386834158 12:88471567-88471567 12:88077790-88077790
25 CEP290 NM_025114.3(CEP290):c.3175dupA (p.Ile1059Asnfs)duplication Pathogenic 99850 rs62640570 12:88487680-88487681 12:88093903-88093904
26 CEP290 NM_025114.3(CEP290):c.5813_5817delCTTTA (p.Thr1938Asnfs)short repeat Pathogenic 99861 rs62638180 12:88465596-88465600 12:88071819-88071823
27 CSPP1 NM_001291339.1(CSPP1):c.1209_1212del (p.Glu405fs)deletion Pathogenic 100674 rs587777145 8:68070698-68070701 8:67158463-67158466
28 CC2D2A NM_001080522.2(CC2D2A):c.394C>T (p.Arg132Ter)SNV Pathogenic 126242 rs377177061 4:15504502-15504502 4:15502879-15502879
29 CEP290 NM_025114.3(CEP290):c.4621del (p.Thr1541Profs)deletion Pathogenic 126260 rs587779733 12:88478446-88478446 12:88084669-88084669
30 CEP290 NM_025114.3(CEP290):c.2052+1_2052+2delGTdeletion Pathogenic 236466 rs747835249 12:88508195-88508196 12:88114418-88114419
31 CEP290 NM_025114.3(CEP290):c.673_674del (p.Leu225Asnfs)deletion Pathogenic 266093 rs886039805 12:88523649-88523650 12:88129872-88129873
32 MKS1 NM_001165927.1(MKS1):c.231+2T>ASNV Pathogenic 266091 rs886039803 17:56294025-56294025 17:58216664-58216664
33 CEP290 NM_025114.3(CEP290):c.1936C>T (p.Gln646Ter)SNV Pathogenic 279751 rs780225183 12:88508313-88508313 12:88114536-88114536
34 RPGRIP1L NM_015272.5(RPGRIP1L):c.1489G>T (p.Glu497Ter)SNV Pathogenic 279885 rs756821449 16:53691457-53691457 16:53657545-53657545
35 CEP290 NM_025114.3(CEP290):c.1512_1515delAGAG (p.Arg504Serfs)short repeat Pathogenic 286074 rs886043303 12:88513898-88513901 12:88120121-88120124
36 CC2D2A NC_000004.11:g.(?_15480347)_(15482451_?)deldeletion Pathogenic 417568 4:15480347-15482451 4:15478723-15480827
37 CC2D2A NM_001080522.2(CC2D2A):c.1267C>T (p.Arg423Ter)SNV Pathogenic 411851 rs757208121 4:15529187-15529187 4:15527564-15527564
38 TMEM67 NM_001142301.1(TMEM67):c.2071_2079+4delinsGGindel Pathogenic 411583 rs1064792983 8:94815904-94815916 8:93803676-93803688
39 RPGRIP1L NM_015272.5(RPGRIP1L):c.2794_2795del (p.Leu932fs)deletion Pathogenic 406251 rs778824093 16:53675276-53675277 16:53641364-53641365
40 RPGRIP1L NM_015272.5(RPGRIP1L):c.1072_1073dup (p.Leu358fs)duplication Pathogenic 406250 rs1060501006 16:53705451-53705452 16:53671539-53671540
41 MKS1 NM_001165927.1(MKS1):c.1378-1dupduplication Pathogenic 435876 rs762668200 17:56283904-56283905 17:58206543-58206544
42 CEP290 NM_025114.3(CEP290):c.1066-1G>ASNV Pathogenic 439474 rs965522059 12:88519147-88519147 12:88125370-88125370
43 CC2D2A NM_001080522.2(CC2D2A):c.3988C>T (p.Arg1330Ter)SNV Pathogenic 461750 rs758036385 4:15587792-15587792 4:15586169-15586169
44 TCTN2 NM_024809.5(TCTN2):c.524dup (p.Leu175fs)duplication Pathogenic 461766 rs760034947 12:124163793-124163794 12:123679246-123679247
45 TCTN2 NM_024809.5(TCTN2):c.652_659dup (p.Ala221fs)duplication Pathogenic 461767 rs915737037 12:124171469-124171470 12:123686922-123686923
46 CEP290 NM_025114.3(CEP290):c.5931_5935delACGAG (p.Arg1978Phefs)deletion Pathogenic 461786 rs1555201796 12:88465147-88465151 12:88071370-88071374
47 CEP290 NM_025114.3(CEP290):c.5212G>T (p.Glu1738Ter)SNV Pathogenic 461785 rs1555205328 12:88473973-88473973 12:88080196-88080196
48 CEP290 NM_025114.3(CEP290):c.1474A>T (p.Lys492Ter)SNV Pathogenic 461774 rs1278679056 12:88513939-88513939 12:88120162-88120162
49 CEP290 NM_025114.3(CEP290):c.6798G>A (p.Trp2266Ter)SNV Pathogenic 497937 rs760540562 12:88452645-88452645 12:88058868-88058868
50 CEP290 NM_025114.3(CEP290):c.828delA (p.Glu277Lysfs)deletion Pathogenic 523947 rs1555225566 12:88523495-88523495 12:88129718-88129718

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

73
# Symbol AA change Variation ID SNP ID
1 MKS1 p.Asp19Tyr VAR_077515 rs863225205

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

7
# CNVD ID Chromosome 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 15)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.41 WDPCP TMEM67 TMEM216 TCTN2 TCTN1 RPGRIP1L
2 centrosome GO:0005813 10.11 TMEM67 RPGRIP1L OFD1 MKS1 IFT88 CSPP1
3 ciliary transition zone GO:0035869 10.06 TMEM67 TMEM231 TMEM216 TMEM107 TCTN1 RPGRIP1L
4 MKS complex GO:0036038 10.03 TMEM67 TMEM231 TMEM216 TMEM107 TCTN2 TCTN1
5 cilium GO:0005929 10.03 WDPCP TMEM67 TMEM231 TMEM216 TMEM107 RPGRIP1L
6 microtubule organizing center GO:0005815 10.02 RPGRIP1L OFD1 MKS1 IFT88 CSPP1 CEP55
7 ciliary basal body GO:0036064 10.01 RPGRIP1L OFD1 MKS1 IFT88 CEP290 B9D2
8 centriole GO:0005814 9.91 OFD1 MKS1 IFT88 CEP55 CEP290 AHI1
9 cytoskeleton GO:0005856 9.86 WDPCP TMEM67 TMEM216 TCTN2 TCTN1 RPGRIP1L
10 axoneme GO:0005930 9.83 WDPCP RPGRIP1L RPGRIP1 ARL13B
11 ciliary membrane GO:0060170 9.8 TMEM67 TMEM231 TCTN2 ARL13B
12 non-motile cilium GO:0097730 9.76 RPGRIP1 IFT88 ARL13B AHI1
13 centriolar satellite GO:0034451 9.72 OFD1 CEP55 CEP290
14 photoreceptor connecting cilium GO:0032391 9.71 RPGRIP1L RPGRIP1 CEP290
15 cell projection GO:0042995 9.58 WDPCP TMEM67 TMEM231 TMEM216 TMEM107 TCTN2

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

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 ciliary basal body-plasma membrane docking GO:0097711 9.93 TMEM67 TMEM216 TCTN2 TCTN1 RPGRIP1L OFD1
2 smoothened signaling pathway GO:0007224 9.87 WDPCP TMEM231 TCTN2 MKS1 CC2D2A B9D1
3 in utero embryonic development GO:0001701 9.84 TMEM231 TCTN1 RPGRIP1L B9D1
4 camera-type eye development GO:0043010 9.83 WDPCP TMEM231 RPGRIP1L CC2D2A B9D1
5 cell projection organization GO:0030030 9.83 WDPCP TMEM67 TMEM231 TMEM216 TMEM107 TCTN2
6 embryonic digit morphogenesis GO:0042733 9.8 WDPCP TMEM231 TMEM107 MKS1 B9D1
7 non-motile cilium assembly GO:1905515 9.8 TMEM216 TMEM107 RPGRIP1L MKS1 IFT88 CC2D2A
8 determination of left/right symmetry GO:0007368 9.78 RPGRIP1L MKS1 CC2D2A ARL13B
9 kidney development GO:0001822 9.76 WDPCP RPGRIP1L IFT88
10 regulation of protein localization GO:0032880 9.69 WDPCP TMEM231 B9D1
11 regulation of smoothened signaling pathway GO:0008589 9.67 TCTN1 RPGRIP1L MKS1
12 protein localization to ciliary transition zone GO:1904491 9.67 TMEM107 TCTN2 TCTN1 CC2D2A
13 neural tube patterning GO:0021532 9.63 TMEM107 RPGRIP1L ARL13B
14 telencephalon development GO:0021537 9.62 TCTN1 RPGRIP1L
15 vasculature development GO:0001944 9.61 TMEM231 B9D1
16 inner ear receptor cell stereocilium organization GO:0060122 9.61 MKS1 IFT88
17 motile cilium assembly GO:0044458 9.6 MKS1 CC2D2A
18 hindbrain development GO:0030902 9.59 CEP290 AHI1
19 head development GO:0060322 9.58 RPGRIP1L MKS1
20 eye photoreceptor cell development GO:0042462 9.57 RPGRIP1 CEP290
21 left/right axis specification GO:0070986 9.56 ARL13B AHI1
22 embryonic brain development GO:1990403 9.55 MKS1 CC2D2A
23 cilium assembly GO:0060271 9.55 WDPCP TMEM67 TMEM231 TMEM216 TMEM107 TCTN2
24 neuroepithelial cell differentiation GO:0060563 9.52 TMEM231 B9D1

Molecular functions related to Meckel Syndrome, Type 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 gamma-tubulin binding GO:0043015 8.62 OFD1 B9D2

Sources for Meckel Syndrome, Type 1

3 CDC
7 CNVD
9 Cosmic
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11 DGIdb
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