MKS1
MCID: MCK013
MIFTS: 64

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 74 29 6 72
Meckel Syndrome 57 12 75 53 25 59 37 15
Meckel Syndrome 1 57 12 74 13 15
Dysencephalia Splanchnocystica 57 25 74
Meckel Syndrome Type 1 29 6 72
Gruber Syndrome 57 53 74
Mks1 57 12 74
Mks 57 53 25
Meckel-Gruber Syndrome, Type 1 57 12
Mes 57 74
Dysencephalia Splachnocystica 53
Meckel Gruber Syndrome 53
Meckel Syndrome; Mks 57
Syndrome, Meckel 40

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:



External Ids:

Disease Ontology 12 DOID:0050778 DOID:0070115
KEGG 37 H00261
ICD9CM 35 753.1 753.10
SNOMED-CT 68 82525005
ICD10 33 Q61.9
ICD10 via Orphanet 34 Q61.9
UMLS via Orphanet 73 C0265215
Orphanet 59 ORPHA564
UMLS 72 C0265215 C0311245 C3714506

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 5 and meckel syndrome, type 4. 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 brain, 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 : 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.

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)

KEGG : 37
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 : 74 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 : 75 Meckel 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 861)
# Related Disease Score Top Affiliating Genes
1 meckel syndrome, type 5 35.1 RPGRIP1L NPHP4 B9D2 B9D1
2 meckel syndrome, type 4 33.9 TMEM231 MKS1 CEP290
3 bardet-biedl syndrome 13 33.9 WDPCP TMEM67 RPGRIP1L MKS1 CEP290 CC2D2A
4 meckel syndrome, type 3 33.7 TMEM67 RPGRIP1L NPHP1 MKS1 CEP290 CC2D2A
5 meckel syndrome, type 2 33.7 TMEM67 TMEM216 MKS1 B9D2 B9D1
6 encephalocele 33.6 TMEM67 MKS1 CEP290 CC2D2A
7 joubert syndrome 6 33.4 TMEM67 NPHP1 MKS1 CEP290
8 bardet-biedl syndrome 33.4 WDPCP TMEM67 RPGRIP1L NPHP4 NPHP1 MKS1
9 nephronophthisis 1 33.1 NPHP4 NPHP1
10 pathologic nystagmus 32.9 WDPCP TMEM67 MKS1 CEP290
11 nephronophthisis 2 32.9 NPHP4 NPHP1 MKS1
12 joubert syndrome 14 32.7 TMEM216 RPGRIP1L NPHP4 B9D2 B9D1
13 nephronophthisis 32.5 TMEM67 TMEM216 RPGRIP1L RPGRIP1 NPHP4 NPHP1
14 senior-loken syndrome 1 32.5 TMEM67 TMEM216 NPHP4 NPHP1 MKS1 CEP290
15 meckel syndrome, type 6 31.9 WDPCP TMEM67 RPGRIP1L RPGRIP1 NPHP4 NPHP1
16 joubert syndrome 1 31.6 WDPCP TMEM67 TMEM231 TMEM216 TMEM107 TCTN2
17 congenital hepatic fibrosis 31.5 TMEM67 RPGRIP1L CC2D2A
18 coach syndrome 31.2 TMEM67 RPGRIP1L CC2D2A
19 joubert syndrome with renal anomalies 30.9 RPGRIP1L NPHP1
20 nephronophthisis 4 30.7 RPGRIP1 NPHP4 NPHP1
21 juvenile nephronophthisis 30.6 NPHP4 NPHP1
22 leber congenital amaurosis 30.6 RPGRIP1 NPHP4 NPHP1 CEP290
23 fundus dystrophy 30.6 RPGRIP1 NPHP1 CEP290 CC2D2A
24 meckel syndrome, type 10 12.7
25 meckel syndrome 12 12.5
26 meckel syndrome 13 12.5
27 meckel syndrome, type 11 12.5
28 cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome 12.3
29 joubert syndrome 28 12.1
30 chronic fatigue syndrome 11.9
31 meckel syndrome, type 7 11.8
32 polydactyly 11.7
33 mckusick-kaufman syndrome 11.6
34 menkes disease 11.5
35 smith-lemli-opitz syndrome 11.5
36 atrial standstill 1 11.4
37 atrial fibrillation 11.4
38 hemochromatosis, type 1 11.4
39 sickle cell anemia 11.4
40 malignant spiradenoma 11.3
41 gray platelet syndrome 11.2
42 bardet-biedl syndrome 12 11.2
43 hydrolethalus syndrome 1 11.2
44 leber congenital amaurosis 6 11.2
45 joubert syndrome 20 11.2
46 chronic kidney disease 11.2
47 meckel syndrome, type 8 11.2
48 meckel syndrome, type 9 11.2
49 pernicious anemia 11.1
50 fanconi anemia, complementation group a 11.1

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:

59 32 (show top 50) (show all 90)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
2 multicystic kidney dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000003
3 congenital hepatic fibrosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002612
4 postaxial hand polydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001162
5 postaxial foot polydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001830
6 encephalocele 59 32 hallmark (90%) Very frequent (99-80%) HP:0002084
7 hypertelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000316
8 cataract 59 32 frequent (33%) Frequent (79-30%) HP:0000518
9 optic atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0000648
10 full cheeks 59 32 frequent (33%) Frequent (79-30%) HP:0000293
11 cleft palate 59 32 frequent (33%) Frequent (79-30%) HP:0000175
12 micrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000347
13 cryptorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0000028
14 depressed nasal ridge 59 32 frequent (33%) Frequent (79-30%) HP:0000457
15 microphthalmia 59 32 frequent (33%) Frequent (79-30%) HP:0000568
16 low-set, posteriorly rotated ears 59 32 frequent (33%) Frequent (79-30%) HP:0000368
17 talipes 59 32 frequent (33%) Frequent (79-30%) HP:0001883
18 aplasia/hypoplasia of the iris 59 32 frequent (33%) Frequent (79-30%) HP:0008053
19 sclerocornea 59 32 frequent (33%) Frequent (79-30%) HP:0000647
20 oligohydramnios 59 32 frequent (33%) Frequent (79-30%) HP:0001562
21 microcornea 59 32 frequent (33%) Frequent (79-30%) HP:0000482
22 sloping forehead 59 32 frequent (33%) Frequent (79-30%) HP:0000340
23 lobar holoprosencephaly 59 32 frequent (33%) Frequent (79-30%) HP:0006870
24 abnormal chorioretinal morphology 32 frequent (33%) HP:0000532
25 hydrocephalus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000238
26 bowing of the long bones 59 32 occasional (7.5%) Occasional (29-5%) HP:0006487
27 pancreatic cysts 59 32 occasional (7.5%) Occasional (29-5%) HP:0001737
28 anophthalmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000528
29 dandy-walker malformation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001305
30 preaxial hand polydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001177
31 male pseudohermaphroditism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000037
32 pancreatic fibrosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0100732
33 furrowed tongue 59 32 occasional (7.5%) Occasional (29-5%) HP:0000221
34 aplasia/hypoplasia of the corpus callosum 59 32 occasional (7.5%) Occasional (29-5%) HP:0007370
35 urethral atresia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000068
36 ureteral duplication 59 32 occasional (7.5%) Occasional (29-5%) HP:0000073
37 situs inversus totalis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001696
38 asplenia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001746
39 accessory spleen 59 32 occasional (7.5%) Occasional (29-5%) HP:0001747
40 anencephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002323
41 cystic liver disease 59 32 occasional (7.5%) Occasional (29-5%) HP:0006706
42 aplasia/hypoplasia of the tongue 59 32 occasional (7.5%) Occasional (29-5%) HP:0010295
43 true hermaphroditism 59 32 occasional (7.5%) Occasional (29-5%) HP:0010459
44 low-set ears 32 HP:0000369
45 short neck 32 HP:0000470
46 agenesis of corpus callosum 32 HP:0001274
47 clinodactyly 32 HP:0030084
48 splenomegaly 32 HP:0001744
49 malformation of the heart and great vessels 59 Occasional (29-5%)
50 patent ductus arteriosus 32 HP:0001643

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
microphthalmia
iris coloboma
hypotelorism

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

Skeletal Feet:
talipes
polydactyly

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

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 Mouth:
cleft palate
cleft lip
lobulated tongue
macrostomia
natal teeth

Cardiovascular Vascular:
patent ductus arteriosus

Cardiovascular Heart:
coarctation of aorta
septal defects

Abdomen Gastrointestinal:
intestinal malrotation
omphalocele
single umbilical artery
imperforate anus

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:

46 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.27 ARL13B B9D1 B9D2 CC2D2A CEP290 MKS1
2 cardiovascular system MP:0005385 10.25 B9D1 B9D2 CC2D2A CEP290 MKS1 NPHP4
3 craniofacial MP:0005382 10.18 B9D1 B9D2 CC2D2A CEP290 MKS1 RPGRIP1L
4 embryo MP:0005380 10.17 ARL13B B9D1 B9D2 CC2D2A MKS1 RPGRIP1L
5 growth/size/body region MP:0005378 10.14 ARL13B B9D1 B9D2 CC2D2A CEP290 MKS1
6 nervous system MP:0003631 10.13 ARL13B B9D1 B9D2 CC2D2A CEP290 MKS1
7 digestive/alimentary MP:0005381 10.11 B9D1 B9D2 CC2D2A MKS1 RPGRIP1L TCTN2
8 limbs/digits/tail MP:0005371 10.07 B9D1 B9D2 CC2D2A MKS1 RPGRIP1L TCTN2
9 renal/urinary system MP:0005367 9.93 ARL13B B9D1 B9D2 CC2D2A CEP290 MKS1
10 liver/biliary system MP:0005370 9.87 B9D1 B9D2 CEP290 MKS1 RPGRIP1L TMEM107
11 respiratory system MP:0005388 9.5 ARL13B B9D2 CC2D2A CEP290 MKS1 RPGRIP1L
12 vision/eye MP:0005391 9.44 B9D1 B9D2 CC2D2A CEP290 MKS1 NPHP1

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:

41
Kidney, Liver, Brain, Bone, Heart, Eye, Spinal Cord

Publications for Meckel Syndrome, Type 1

Articles related to Meckel Syndrome, Type 1:

(show top 50) (show all 260)
# Title Authors PMID Year
1
A TCTN2 mutation defines a novel Meckel Gruber syndrome locus. 38 8 71
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. 38 8 71
17935508 2007
3
Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3. 38 8 71
17377820 2007
4
MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome. 8 71
16415886 2006
5
Mutations in TMEM231 cause Meckel-Gruber syndrome. 38 71
23349226 2013
6
A meckelin-filamin A interaction mediates ciliogenesis. 38 71
22121117 2012
7
Molecular genetics and pathogenic mechanisms for the severe ciliopathies: insights into neurodevelopment and pathogenesis of neural tube defects. 38 8
21110233 2011
8
Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). 38 71
19508969 2009
9
Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome. 38 71
17705300 2008
10
The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation. 38 71
17185389 2007
11
The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat. 38 71
16415887 2006
12
Genetic heterogeneity in neural tube defects. 38 8
1809238 1991
13
A distinctive triad of malformations of the central nervous system in the Meckel-Gruber syndrome. 38 8
2230839 1990
14
Phenotypic variability in Meckel-Gruber syndrome. 38 8
2225527 1990
15
Meckel-Gruber syndrome: ultrasonographic diagnosis at 13 weeks' gestational age in an at-risk case. 38 8
2652130 1989
16
Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome. 71
29891882 2018
17
B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis. 71
21493627 2011
18
Disruption of a ciliary B9 protein complex causes Meckel syndrome. 71
21763481 2011
19
Clinical utility gene card for: Meckel syndrome. 71
21368913 2011
20
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. 71
20512146 2010
21
A mouse model for Meckel syndrome reveals Mks1 is required for ciliogenesis and Hedgehog signaling. 8
19776033 2009
22
Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle. 71
18513680 2008
23
Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. 71
17564974 2007
24
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. 71
17558409 2007
25
Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype. 71
17345604 2007
26
Meckel on developmental pathology. 8
16353245 2006
27
Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome. 8
15666242 2005
28
High-resolution physical and genetic mapping of the critical region for Meckel syndrome and Mulibrey Nanism on chromosome 17q22-q23. 8
10077533 1999
29
Associated anomalies in individuals with polydactyly. 8
9880209 1998
30
Clinical and genetic heterogeneity in Meckel syndrome. 8
9385376 1997
31
Associated malformations in the family of a patient with Meckel syndrome: heterozygous expression? 8
9391891 1997
32
Retinitis pigmentosa, hypopituitarism, nephronophthisis, and mild skeletal dysplasia (RHYNS): a new syndrome? 71
9375913 1997
33
Meckel syndrome and Dandy Walker malformation. 8
8867663 1996
34
The locus for Meckel syndrome with multiple congenital anomalies maps to chromosome 17q21-q24. 8
7550354 1995
35
Dandy-Walker malformation in the Meckel syndrome. 8
7702098 1995
36
Polydactyly in a carrier of the gene for the Meckel syndrome. 8
7856653 1994
37
Meckel syndrome: what are the minimum diagnostic criteria? 8
8071976 1994
38
Cerebro-reno-digital (Meckel-like) syndrome with Dandy-Walker malformation, cystic kidneys, hepatic fibrosis, and polydactyly. 8
8368252 1993
39
On Saraiva and Baraitser and Joubert syndrome: a review. 8
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. 8
1621756 1992
41
Familial renal-hepatic-pancreatic dysplasia and Dandy-Walker cyst: a distinct syndrome? 8
1785635 1991
42
Dandy-Walker malformation (variant), cystic dysplastic kidneys, and hepatic fibrosis: a distinct entity or Meckel syndrome? 8
1867280 1991
43
Dandy-Walker malformation in the Meckel syndrome. 8
2063927 1991
44
Pathology of renal and hepatic anomalies in Meckel syndrome. 8
3130875 1987
45
Distal obstructive uropathy with polydactyly: a new syndrome? 8
3740105 1986
46
High incidence of Meckel's syndrome in Gujarati Indians. 8
4045959 1985
47
Visceral anomalies in the Meckel syndrome. 8
3992488 1985
48
Gross anatomical studies of a newborn infant with the Meckel syndrome. 8
6486165 1984
49
Meckel syndrome in different populations. 8
6486166 1984
50
The Meckel syndrome: clinicopathological findings in 67 patients. 8
6486167 1984

Variations for Meckel Syndrome, Type 1

ClinVar genetic disease variations for Meckel Syndrome, Type 1:

6 (show top 50) (show all 859)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CC2D2A NM_001080522.2(CC2D2A): c.1267C> T (p.Arg423Ter) single nucleotide variant Pathogenic rs757208121 4:15529187-15529187 4:15527564-15527564
2 TMEM67 NM_153704.5(TMEM67): c.2314_2322+4delinsGG indel Pathogenic rs1064792983 8:94815904-94815916 8:93803676-93803688
3 RPGRIP1L NM_015272.5(RPGRIP1L): c.2794_2795del (p.Leu932fs) deletion Pathogenic rs778824093 16:53675276-53675277 16:53641364-53641365
4 RPGRIP1L NM_015272.5(RPGRIP1L): c.1072_1073dup (p.Leu358fs) duplication Pathogenic rs1060501006 16:53705452-53705453 16:53671540-53671541
5 CC2D2A NM_001080522.2(CC2D2A): c.3988C> T (p.Arg1330Ter) single nucleotide variant Pathogenic rs758036385 4:15587792-15587792 4:15586169-15586169
6 MKS1 NM_017777.3(MKS1): c.1411dup (p.Glu471Glyfs) duplication Pathogenic rs762668200 17:56283905-56283905 17:58206544-58206544
7 CEP290 NM_025114.3(CEP290): c.1066-1G> A single nucleotide variant Pathogenic rs965522059 12:88519147-88519147 12:88125370-88125370
8 TCTN2 NM_024809.5(TCTN2): c.524dup (p.Leu175fs) duplication Pathogenic rs760034947 12:124163796-124163796 12:123679249-123679249
9 TCTN2 NM_024809.5(TCTN2): c.652_659dup (p.Ala221fs) duplication Pathogenic rs915737037 12:124171470-124171477 12:123686923-123686930
10 CEP290 NM_025114.3(CEP290): c.1474A> T (p.Lys492Ter) single nucleotide variant Pathogenic rs1278679056 12:88513939-88513939 12:88120162-88120162
11 CEP290 NM_025114.3(CEP290): c.5931_5935delACGAG (p.Arg1978Phefs) deletion Pathogenic rs1555201796 12:88465147-88465151 12:88071370-88071374
12 CEP290 NM_025114.3(CEP290): c.5212G> T (p.Glu1738Ter) single nucleotide variant Pathogenic rs1555205328 12:88473973-88473973 12:88080196-88080196
13 CEP290 NM_025114.3(CEP290): c.6798G> A (p.Trp2266Ter) single nucleotide variant Pathogenic rs760540562 12:88452645-88452645 12:88058868-88058868
14 CEP290 NM_025114.3(CEP290): c.828delA (p.Glu277Lysfs) deletion Pathogenic rs1555225566 12:88523495-88523495 12:88129718-88129718
15 CEP290 NM_025114.3(CEP290): c.1078C> T (p.Arg360Ter) single nucleotide variant Pathogenic rs776645403 12:88519134-88519134 12:88125357-88125357
16 CEP290 NM_025114.3(CEP290): c.5434_5435delGA (p.Glu1812Lysfs) short repeat Pathogenic rs757609119 12:88471625-88471626 12:88077848-88077849
17 CEP290 NM_025114.3(CEP290): c.3205_3206delGAinsTG (p.Glu1069Ter) indel Pathogenic rs1555212150 12:88487650-88487651 12:88093873-88093874
18 CC2D2A NC_000004.11: g.(?_15480347)_(15482451_?)del deletion Pathogenic 4:15480347-15482451 4:15478723-15480827
19 RPGRIP1L NM_015272.5(RPGRIP1L): c.2939del (p.Ile980fs) deletion Pathogenic rs1182447072 16:53674964-53674964 16:53641052-53641052
20 RPGRIP1L NM_015272.5(RPGRIP1L): c.972del (p.Cys325fs) deletion Pathogenic rs757594906 16:53706839-53706839 16:53672927-53672927
21 CEP290 NM_025114.3(CEP290): c.5668G> T (p.Gly1890Ter) single nucleotide variant Pathogenic rs137852832 12:88471040-88471040 12:88077263-88077263
22 CEP290 NM_025114.3(CEP290): c.2991+1655A> G single nucleotide variant Pathogenic rs281865192 12:88494960-88494960 12:88101183-88101183
23 TMEM67 NM_153704.5(TMEM67): c.622A> T (p.Arg208Ter) single nucleotide variant Pathogenic rs137853108 8:94777845-94777845 8:93765617-93765617
24 TMEM67 NM_153704.5(TMEM67): c.2498T> C (p.Ile833Thr) single nucleotide variant Pathogenic rs267607119 8:94821126-94821126 8:93808898-93808898
25 MKS1 NM_017777.3(MKS1): c.50_54dup (p.Asp19fs) duplication Pathogenic rs730880323 17:56296538-56296542 17:58219177-58219181
26 RPGRIP1L NM_015272.5(RPGRIP1L): c.1843A> C (p.Thr615Pro) single nucleotide variant Pathogenic rs121918198 16:53686756-53686756 16:53652844-53652844
27 RPGRIP1L NM_015272.5(RPGRIP1L): c.2050C> T (p.Gln684Ter) single nucleotide variant Pathogenic rs121918204 16:53686549-53686549 16:53652637-53652637
28 CC2D2A NM_001080522.2(CC2D2A): c.3289delG (p.Val1097Phefs) deletion Pathogenic rs386833751 4:15569300-15569300 4:15567677-15567677
29 CC2D2A NM_001080522.2(CC2D2A): c.4179+1delG (p.Gly1394Valfs) deletion Pathogenic rs386833760 4:15589553-15589553 4:15587930-15587930
30 MKS1 NM_017777.3(MKS1): c.472C> T (p.Arg158Ter) single nucleotide variant Pathogenic rs386834050 17:56292145-56292145 17:58214784-58214784
31 CEP290 NM_025114.3(CEP290): c.1984C> T (p.Gln662Ter) single nucleotide variant Pathogenic rs386834152 12:88508265-88508265 12:88114488-88114488
32 CEP290 NM_025114.3(CEP290): c.384_387delTAGA (p.Asp128Glufs) deletion Pathogenic rs386834157 12:88530474-88530477 12:88136697-88136700
33 CEP290 NM_025114.3(CEP290): c.5493delA (p.Ala1832Profs) deletion Pathogenic rs386834158 12:88471567-88471567 12:88077790-88077790
34 TMEM67 NM_153704.5(TMEM67): c.1413-1G> C single nucleotide variant Pathogenic rs386834185 8:94800071-94800071 8:93787843-93787843
35 CEP290 NM_025114.3(CEP290): c.5813_5817delCTTTA (p.Thr1938Asnfs) short repeat Pathogenic rs62638180 12:88465596-88465600 12:88071819-88071823
36 CSPP1 NM_024790.6(CSPP1): c.2244_2247del (p.Glu750fs) deletion Pathogenic rs587777145 8:68070699-68070702 8:67158464-67158467
37 CEP290 NM_025114.3(CEP290): c.4621del (p.Thr1541Profs) deletion Pathogenic rs587779733 12:88478446-88478446 12:88084669-88084669
38 CEP290 NM_025114.3(CEP290): c.3175dupA (p.Ile1059Asnfs) duplication Pathogenic rs62640570 12:88487681-88487681 12:88093904-88093904
39 CC2D2A NM_001080522.2(CC2D2A): c.394C> T (p.Arg132Ter) single nucleotide variant Pathogenic rs377177061 4:15504502-15504502 4:15502879-15502879
40 CEP290 NM_025114.3(CEP290): c.6869dupA (p.Asn2290Lysfs) duplication Pathogenic rs587783017 12:88449444-88449444 12:88055667-88055667
41 CC2D2A NM_001080522.2(CC2D2A): c.1017+1G> A single nucleotide variant Pathogenic rs200407856 4:15517628-15517628 4:15516005-15516005
42 RPGRIP1L NM_015272.5(RPGRIP1L): c.1709dup (p.Asp571fs) duplication Pathogenic rs778149316 16:53686890-53686890 16:53652978-53652978
43 CC2D2A NM_001080522.2(CC2D2A): c.1558C> T (p.Arg520Ter) single nucleotide variant Pathogenic rs781252161 4:15534907-15534907 4:15533284-15533284
44 CEP290 NM_025114.3(CEP290): c.4966_4967delGA (p.Glu1656Asnfs) short repeat Pathogenic rs756302731 12:88476853-88476854 12:88083076-88083077
45 CEP290 NM_025114.3(CEP290): c.4882C> T (p.Gln1628Ter) single nucleotide variant Pathogenic rs376493409 12:88476938-88476938 12:88083161-88083161
46 CEP290 NM_025114.3(CEP290): c.4452_4455delAGAA (p.Lys1484Asnfs) short repeat Pathogenic rs780624853 12:88478612-88478615 12:88084835-88084838
47 CEP290 NM_025114.3(CEP290): c.4393C> T (p.Arg1465Ter) single nucleotide variant Pathogenic rs539400286 12:88479860-88479860 12:88086083-88086083
48 CEP290 NM_025114.3(CEP290): c.2112delA (p.Val705Leufs) deletion Pathogenic rs863225183 12:88505576-88505576 12:88111799-88111799
49 CEP290 NM_025114.3(CEP290): c.1666delA (p.Ile556Phefs) deletion Pathogenic rs727503855 12:88512305-88512305 12:88118528-88118528
50 CEP290 NM_025114.3(CEP290): c.2052+1_2052+2delGT deletion Pathogenic rs747835249 12:88508195-88508196 12:88114418-88114419

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

74
# 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 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 16)
# Name GO ID Score Top Affiliating Genes
1 MKS complex GO:0036038 9.96 TMEM67 TMEM231 TMEM216 TMEM107 TCTN2 MKS1
2 microtubule organizing center GO:0005815 9.95 RPGRIP1L NPHP4 MKS1 CSPP1 CEP55 CEP290
3 ciliary basal body GO:0036064 9.91 RPGRIP1L NPHP4 MKS1 CEP290 B9D2 B9D1
4 ciliary transition zone GO:0035869 9.9 TMEM67 TMEM231 TMEM216 TMEM107 RPGRIP1L NPHP4
5 axoneme GO:0005930 9.8 WDPCP RPGRIP1L RPGRIP1 ARL13B
6 photoreceptor connecting cilium GO:0032391 9.8 RPGRIP1L RPGRIP1 NPHP4 NPHP1 CEP290
7 cilium GO:0005929 9.8 WDPCP TMEM67 TMEM231 TMEM216 TMEM107 RPGRIP1L
8 ciliary membrane GO:0060170 9.76 TMEM67 TMEM231 TCTN2 ARL13B
9 cell-cell junction GO:0005911 9.73 RPGRIP1L NPHP4 NPHP1
10 centriole GO:0005814 9.72 MKS1 CEP55 CEP290
11 bicellular tight junction GO:0005923 9.71 RPGRIP1L NPHP4 NPHP1
12 non-motile cilium GO:0097730 9.69 RPGRIP1 NPHP4 ARL13B
13 cell projection GO:0042995 9.53 WDPCP TMEM67 TMEM231 TMEM216 TMEM107 TCTN2
14 cytoplasm GO:0005737 10.37 WDPCP TMEM67 TMEM216 TCTN2 RPGRIP1L NPHP4
15 cytoskeleton GO:0005856 10.17 WDPCP TMEM67 TMEM216 TCTN2 RPGRIP1L NPHP4
16 centrosome GO:0005813 10.02 TMEM67 RPGRIP1L NPHP4 MKS1 CSPP1 CEP55

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 ciliary basal body-plasma membrane docking GO:0097711 9.9 TMEM67 TMEM216 TCTN2 RPGRIP1L NPHP4 NPHP1
2 camera-type eye development GO:0043010 9.8 WDPCP TMEM231 RPGRIP1L CC2D2A B9D1
3 smoothened signaling pathway GO:0007224 9.8 WDPCP TMEM231 TCTN2 CC2D2A B9D1 ARL13B
4 embryonic digit morphogenesis GO:0042733 9.77 WDPCP TMEM231 TMEM107 MKS1 B9D1
5 determination of left/right symmetry GO:0007368 9.76 RPGRIP1L MKS1 CC2D2A ARL13B
6 non-motile cilium assembly GO:1905515 9.73 TMEM216 TMEM107 RPGRIP1L MKS1 CC2D2A ARL13B
7 cell projection organization GO:0030030 9.73 WDPCP TMEM67 TMEM231 TMEM216 TMEM107 TCTN2
8 retina development in camera-type eye GO:0060041 9.71 RPGRIP1 NPHP4 NPHP1
9 regulation of protein localization GO:0032880 9.7 WDPCP TMEM231 B9D1
10 neural tube patterning GO:0021532 9.61 TMEM107 RPGRIP1L ARL13B
11 vasculature development GO:0001944 9.6 TMEM231 B9D1
12 motile cilium assembly GO:0044458 9.59 MKS1 CC2D2A
13 regulation of smoothened signaling pathway GO:0008589 9.58 RPGRIP1L MKS1
14 head development GO:0060322 9.58 RPGRIP1L MKS1
15 eye photoreceptor cell development GO:0042462 9.57 RPGRIP1 CEP290
16 embryonic brain development GO:1990403 9.56 MKS1 CC2D2A
17 neuroepithelial cell differentiation GO:0060563 9.55 TMEM231 B9D1
18 protein localization to ciliary transition zone GO:1904491 9.51 TMEM107 CC2D2A
19 visual behavior GO:0007632 9.49 NPHP4 NPHP1
20 positive regulation of bicellular tight junction assembly GO:1903348 9.48 NPHP4 NPHP1
21 cilium assembly GO:0060271 9.44 WDPCP TMEM67 TMEM231 TMEM216 TMEM107 TCTN2

Sources for Meckel Syndrome, Type 1

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