MKS1
MCID: MCK022
MIFTS: 54

Meckel Syndrome 1 (MKS1) malady

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

Aliases & Classifications for Meckel Syndrome 1

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Aliases & Descriptions for Meckel Syndrome 1:

Name: Meckel Syndrome 1 52 70 27 12
Meckel Syndrome 11 48 24 25 54 13
Meckel-Gruber Syndrome 11 25 54 70 68
Dysencephalia Splanchnocystica 25 70
Meckel Gruber Syndrome 48 27
Gruber Syndrome 48 70
 
Mks 48 25
Dysencephalia Splachnocystica 48
Meckel Syndrome Type 1 68
Mks1 70
Mes 70

Characteristics:

Orphanet epidemiological data:

54
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

HPO:

64
meckel syndrome 1:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 249000
Disease Ontology11 DOID:0050778
ICD9CM32 753.1, 753.10
Orphanet54 ORPHA564
UMLS via Orphanet69 C0265215
ICD10 via Orphanet31 Q61.9

Summaries for Meckel Syndrome 1

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OMIM:52 Meckel syndrome, also known as Meckel-Gruber syndrome, is a severe pleiotropic autosomal recessive developmental... (249000) more...

MalaCards based summary: Meckel Syndrome 1, also known as meckel syndrome, is related to meckel syndrome 7 and meckel syndrome 3, and has symptoms including Array, Array and Array. An important gene associated with Meckel Syndrome 1 is MKS1 (Meckel Syndrome, Type 1), and among its related pathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. Affiliated tissues include kidney, liver and brain, and related mouse phenotypes are liver/biliary system and digestive/alimentary.

NIH Rare Diseases:48 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:70 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.

Genetics Home Reference:25 Meckel syndrome is a disorder with severe signs and symptoms that affect many parts of the body. The most common features are enlarged kidneys with numerous fluid-filled cysts; an occipital encephalocele, which is a sac-like protrusion of the brain through an opening at the back of the skull; and the presence of extra fingers and toes (polydactyly). Most affected individuals also have a buildup of scar tissue (fibrosis) in the liver.

Disease Ontology:11 A ciliopathy that is characterized by renal cystic dysplasia, occipital encephalocele, polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia.

Wikipedia:71 Meckel syndrome (also known as Meckel–Gruber Syndrome, Gruber Syndrome, Dysencephalia... more...

Related Diseases for Meckel Syndrome 1

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Diseases in the Meckel Syndrome 1 family:

Meckel Syndrome 12 Meckel Syndrome 7
Meckel Syndrome 6 Meckel Syndrome 3
Meckel Syndrome 2 Meckel Syndrome 4
Meckel Syndrome 8 Meckel Syndrome 5
Meckel Syndrome 11 Meckel Syndrome 9
Meckel Syndrome 10 Kif14-Related Meckel Syndrome
Tmem231-Related Meckel Syndrome B9d1-Related Meckel Syndrome
B9d2-Related Meckel Syndrome Cc2d2a-Related Meckel Syndrome
Cep290-Related Meckel Syndrome Mks1-Related Meckel Syndrome
Nphp3-Related Meckel Syndrome Rpgrip1l-Related Meckel Syndrome
Tctn2-Related Meckel Syndrome Tmem216-Related Meckel Syndrome
Tmem67-Related Meckel Syndrome

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

(show top 50)    (show all 125)
idRelated DiseaseScoreTop Affiliating Genes
1meckel syndrome 712.1
2meckel syndrome 312.1
3meckel syndrome 412.1
4meckel syndrome 212.1
5meckel syndrome 912.1
6meckel syndrome 1212.0
7meckel syndrome 812.0
8meckel syndrome 612.0
9meckel syndrome 512.0
10meckel syndrome 1012.0
11meckel syndrome 1112.0
12tctn2-related meckel syndrome11.8
13tmem231-related meckel syndrome11.7
14b9d1-related meckel syndrome11.7
15b9d2-related meckel syndrome11.7
16kif14-related meckel syndrome11.7
17cc2d2a-related meckel syndrome11.7
18cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome11.7
19cep290-related meckel syndrome11.7
20mks1-related meckel syndrome11.7
21nphp3-related meckel syndrome11.7
22rpgrip1l-related meckel syndrome11.7
23tmem216-related meckel syndrome11.7
24tmem67-related meckel syndrome11.7
25bardet-biedl syndrome 1311.5
26joubert syndrome 2811.4
27chronic fatigue syndrome11.2
28nephronophthisis 1, juvenile11.2
29mckusick-kaufman syndrome11.1
30smith-lemli-opitz syndrome11.1
31menkes disease10.9
32malignant spiradenoma10.8
33cartilage-hair hypoplasia10.8
34cri-du-chat syndrome10.8
35megaesophagus10.8
36retinitis pigmentosa 4110.3CC2D2A, RPGRIP1L, TMEM67
37dicer1-related disorders10.3B9D2, CC2D2A, RPGRIP1L, TMEM67
38juvenile polymyositis10.3NPHP1, RPGRIP1L
39hemorrhagic destruction of the brain, subependymal calcification, and cataracts10.3MKS1, TMEM216, TMEM67
40congenital heart defects, hamartomas of tongue, and polysyndactyly10.3CC2D2A, RPGRIP1L, TMEM67, WDPCP
41frontonasal dysplasia 310.3CEP290, TMEM67
42nephronophthisis 410.3NPHP1, TMEM67
432,4-dienoyl-coa reductase deficiency10.2ARL13B, RPGRIP1, TMEM216, TMEM231
44cerebral atherosclerosis10.2CEP290, NPHP1, TMEM67
45carney complex, type 110.2CC2D2A, CEP290, MKS1, RPGRIP1L, TMEM67, WDPCP
46lrrk2-related parkinson disease10.2CC2D2A, CEP290, NPHP1, RPGRIP1L, TMEM231, TMEM67
47intestinal schistosomiasis10.2ARL13B, CSPP1, RPGRIP1L, TCTN1, TCTN2
48puerperal pulmonary embolism10.2CC2D2A, CEP290, RPGRIP1
49age-related hearing impairment 210.2B9D1, B9D2, CC2D2A, CEP290, MKS1, RPGRIP1L
50joubert syndrome 410.2ARL13B, CC2D2A, CEP290, MKS1, NPHP1, TMEM216

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



Diseases related to meckel syndrome 1

Symptoms & Phenotypes for Meckel Syndrome 1

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Symptoms by clinical synopsis from OMIM:

249000

Clinical features from OMIM:

249000

Human phenotypes related to Meckel Syndrome 1:

 54 64 (show all 88)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 multicystic kidney dysplasia64 54 Very frequent (99-80%) HP:0000003
2 cryptorchidism64 54 Frequent (79-30%) HP:0000028
3 male pseudohermaphroditism64 54 Occasional (29-5%) HP:0000037
4 ambiguous genitalia54 Frequent (79-30%)
5 urethral atresia64 54 Occasional (29-5%) HP:0000068
6 ureteral duplication64 54 Occasional (29-5%) HP:0000073
7 cleft palate64 54 Frequent (79-30%) HP:0000175
8 furrowed tongue64 54 Occasional (29-5%) HP:0000221
9 hydrocephalus64 54 Occasional (29-5%) HP:0000238
10 microcephaly64 54 Very frequent (99-80%) HP:0000252
11 full cheeks64 54 Frequent (79-30%) HP:0000293
12 hypertelorism64 54 Frequent (79-30%) HP:0000316
13 sloping forehead64 54 Frequent (79-30%) HP:0000340
14 micrognathia64 54 Frequent (79-30%) HP:0000347
15 low-set, posteriorly rotated ears64 54 Frequent (79-30%) HP:0000368
16 depressed nasal ridge64 54 Frequent (79-30%) HP:0000457
17 microcornea64 54 Frequent (79-30%) HP:0000482
18 cataract64 54 Frequent (79-30%) HP:0000518
19 anophthalmia64 54 Occasional (29-5%) HP:0000528
20 chorioretinal abnormality64 54 Frequent (79-30%) HP:0000532
21 microphthalmia64 54 Frequent (79-30%) HP:0000568
22 sclerocornea64 54 Frequent (79-30%) HP:0000647
23 optic atrophy64 54 Frequent (79-30%) HP:0000648
24 postaxial hand polydactyly64 54 Very frequent (99-80%) HP:0001162
25 preaxial hand polydactyly64 54 Occasional (29-5%) HP:0001177
26 dandy-walker malformation64 54 Occasional (29-5%) HP:0001305
27 oligohydramnios64 54 Frequent (79-30%) HP:0001562
28 situs inversus totalis64 54 Occasional (29-5%) HP:0001696
29 pancreatic cysts64 54 Occasional (29-5%) HP:0001737
30 asplenia64 54 Occasional (29-5%) HP:0001746
31 accessory spleen64 54 Occasional (29-5%) HP:0001747
32 postaxial foot polydactyly64 54 Very frequent (99-80%) HP:0001830
33 talipes64 54 Frequent (79-30%) HP:0001883
34 encephalocele64 54 Very frequent (99-80%) HP:0002084
35 anencephaly64 54 Occasional (29-5%) HP:0002323
36 malformation of the heart and great vessels54 Occasional (29-5%)
37 congenital hepatic fibrosis64 54 Very frequent (99-80%) HP:0002612
38 bowing of the long bones64 54 Occasional (29-5%) HP:0006487
39 cystic liver disease64 54 Occasional (29-5%) HP:0006706
40 lobar holoprosencephaly64 54 Frequent (79-30%) HP:0006870
41 aplasia/hypoplasia of the corpus callosum64 54 Occasional (29-5%) HP:0007370
42 aplasia/hypoplasia of the iris64 54 Frequent (79-30%) HP:0008053
43 aplasia/hypoplasia of the tongue64 54 Occasional (29-5%) HP:0010295
44 true hermaphroditism64 54 Occasional (29-5%) HP:0010459
45 pancreatic fibrosis64 54 Occasional (29-5%) HP:0100732
46 ambiguous genitalia, male64 HP:0000033
47 ambiguous genitalia, female64 HP:0000061
48 abnormality of the ureter64 HP:0000069
49 renal agenesis64 HP:0000104
50 polycystic kidney dysplasia64 HP:0000113
51 abnormality of the uterus64 HP:0000130
52 wide mouth64 HP:0000154
53 lobulated tongue64 HP:0000180
54 cleft upper lip64 HP:0000204
55 low-set ears64 HP:0000369
56 webbed neck64 HP:0000465
57 short neck64 HP:0000470
58 hypotelorism64 HP:0000601
59 iris coloboma64 HP:0000612
60 natal tooth64 HP:0000695
61 adrenal hypoplasia64 HP:0000835
62 syndactyly64 HP:0001159
63 single umbilical artery64 HP:0001195
64 agenesis of corpus callosum64 HP:0001274
65 cerebellar hypoplasia64 HP:0001321
66 olfactory lobe agenesis64 HP:0001341
67 bile duct proliferation64 HP:0001408
68 intrauterine growth retardation64 HP:0001511
69 omphalocele64 HP:0001539
70 abnormality of the larynx64 HP:0001600
71 breech presentation64 HP:0001623
72 patent ductus arteriosus64 HP:0001643
73 abnormality of the cardiac septa64 HP:0001671
74 coarctation of aorta64 HP:0001680
75 splenomegaly64 HP:0001744
76 foot polydactyly64 HP:0001829
77 anal atresia64 HP:0002023
78 occipital encephalocele64 HP:0002085
79 pulmonary hypoplasia64 HP:0002089
80 arnold-chiari malformation64 HP:0002308
81 intestinal malrotation64 HP:0002566
82 external genital hypoplasia64 HP:0003241
83 elevated amniotic fluid alpha-fetoprotein64 HP:0004639
84 hypoplasia of the bladder64 HP:0005343
85 large placenta64 HP:0006267
86 cerebral hypoplasia64 HP:0006872
87 radial deviation of finger64 HP:0009466
88 clinodactyly64 HP:0030084

MGI Mouse Phenotypes related to Meckel Syndrome 1 according to GeneCards Suite gene sharing:

41 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537010.7B9D1, B9D2, CEP290, MKS1, RPGRIP1L, TMEM67
2MP:000538110.6B9D1, B9D2, CC2D2A, MKS1, TCTN2, TMEM67
3MP:000538210.5B9D1, CC2D2A, CEP290, MKS1, RPGRIP1L, TCTN2
4MP:000538810.4ARL13B, B9D2, CC2D2A, CEP290, MKS1, RPGRIP1L
5MP:000538510.4B9D1, CC2D2A, CEP290, MKS1, RPGRIP1L, TCTN2
6MP:000536710.4B9D1, CC2D2A, CEP290, MKS1, NPHP1, RPGRIP1L
7MP:000537110.3B9D1, CC2D2A, MKS1, RPGRIP1L, TCTN1, TCTN2
8MP:000538010.1ARL13B, B9D1, CC2D2A, MKS1, RPGRIP1L, TCTN1
9MP:000538410.1B9D1, B9D2, CC2D2A, CEP290, MKS1, NPHP1
10MP:00036319.7ARL13B, B9D1, CC2D2A, CEP290, LRRCC1, MKS1
11MP:00053919.3B9D1, CC2D2A, CEP290, MKS1, NPHP1, RPGRIP1

Drugs & Therapeutics for Meckel Syndrome 1

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Interventional clinical trials:

idNameStatusNCT IDPhase
1UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational ResourceRecruitingNCT01401998

Search NIH Clinical Center for Meckel Syndrome 1

Genetic Tests for Meckel Syndrome 1

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Genetic tests related to Meckel Syndrome 1:

id Genetic test Affiliating Genes
1 Meckel-Gruber Syndrome27
2 Meckel Syndrome Type 127
3 Meckel Syndrome24 TMEM67

Anatomical Context for Meckel Syndrome 1

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MalaCards organs/tissues related to Meckel Syndrome 1:

36
Kidney, Liver, Brain, Lung, Tongue, Bone, Placenta

Publications for Meckel Syndrome 1

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Articles related to Meckel Syndrome 1:

idTitleAuthorsYear
1
Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins. (19208769)
2009

Variations for Meckel Syndrome 1

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

70
id Symbol AA change Variation ID SNP ID
1MKS1p.Asp19TyrVAR_077515rs863225205

Clinvar genetic disease variations for Meckel Syndrome 1:

5 (show all 51)
id Gene Variation Type Significance SNP ID Assembly Location
1CSPP1NM_ 024790.6(CSPP1): c.2244_ 2247delAAGA (p.Glu750Lysfs)deletionPathogenic/ Likely pathogenicrs587777145GRCh37Chr 8, 68070699: 68070702
2RPGRIP1LNM_ 015272.4(RPGRIP1L): c.685G> A (p.Ala229Thr)SNVrisk factorrs61747071GRCh37Chr 16, 53720436: 53720436
3CC2D2ANM_ 001080522.2(CC2D2A): c.394C> T (p.Arg132Ter)SNVPathogenicrs377177061GRCh37Chr 4, 15504502: 15504502
4CC2D2ANM_ 001080522.2(CC2D2A): c.4384T> C (p.Trp1462Arg)SNVLikely pathogenicrs368720062GRCh37Chr 4, 15597777: 15597777
5CC2D2ANM_ 001080522.2(CC2D2A): c.4407C> G (p.Ser1469Arg)SNVLikely pathogenicrs587779732GRCh38Chr 4, 15596177: 15596177
6CEP290NM_ 025114.3(CEP290): c.4621delA (p.Thr1541Profs)deletionPathogenicrs587779733GRCh37Chr 12, 88478446: 88478446
7TMEM67NM_ 153704.5(TMEM67): c.748G> A (p.Gly250Arg)SNVLikely pathogenicrs587779736GRCh37Chr 8, 94792854: 94792854
8CEP290NM_ 025114.3(CEP290): c.5668G> T (p.Gly1890Ter)SNVPathogenicrs137852832GRCh37Chr 12, 88471040: 88471040
9TMEM67NM_ 153704.5(TMEM67): c.622A> T (p.Arg208Ter)SNVPathogenicrs137853108GRCh37Chr 8, 94777845: 94777845
10MKS1NM_ 017777.3(MKS1): c.50_ 54dupCCCGG (p.Asp19Profs)duplicationPathogenicrs730880323GRCh37Chr 17, 56296538: 56296542
11MKS1NM_ 017777.3(MKS1): c.80+2T> CSNVPathogenic/ Likely pathogenicrs386834052GRCh37Chr 17, 56296510: 56296510
12MKS1NM_ 017777.3(MKS1): c.1024+1G> ASNVPathogenic/ Likely pathogenicrs199874059GRCh37Chr 17, 56288019: 56288019
13CEP290NM_ 025114.3(CEP290): c.6869dupA (p.Asn2290Lysfs)duplicationPathogenicrs587783017GRCh37Chr 12, 88449444: 88449444
14TMEM237NM_ 001044385.2(TMEM237): c.869+1G> ASNVLikely pathogenicrs730882231GRCh38Chr 2, 201629229: 201629229
15EVC2NM_ 147127.4(EVC2): c.3870_ 3893dup24 (p.Lys1300_ Ala1301insLysAsnPheLeuAsnAlaLysLys)duplicationLikely pathogenicrs730882232GRCh38Chr 4, 5562882: 5562905
16EXOC4NM_ 021807.3(EXOC4): c.1733A> G (p.Gln578Arg)SNVLikely pathogenicrs730882233GRCh38Chr 7, 133817543: 133817543
17MKS1NM_ 017777.3(MKS1): c.1066C> T (p.Gln356Ter)SNVPathogenic/ Likely pathogenicrs786205508GRCh37Chr 17, 56285903: 56285903
18MKS1NM_ 001165927.1(MKS1): c.995-2A> CSNVPathogenicrs794727070GRCh37Chr 17, 56285946: 56285946
19MKS1NM_ 017777.3(MKS1): c.844C> T (p.Arg282Ter)SNVPathogenicrs797045706GRCh38Chr 17, 58212996: 58212996
20CC2D2ANM_ 001080522.2(CC2D2A): c.1558C> T (p.Arg520Ter)SNVPathogenicrs781252161GRCh37Chr 4, 15534907: 15534907
21CEP290NM_ 025114.3(CEP290): c.4966_ 4967delGA (p.Glu1656Asnfs)deletionPathogenicrs756302731GRCh37Chr 12, 88476853: 88476854
22TXNDC15NM_ 024715.3(TXNDC15): c.672_ 686delCAGTTTGGCCCCTCA (p.Ser225_ His229del)deletionLikely pathogenicrs886039791GRCh38Chr 5, 134893572: 134893586
23TXNDC15NM_ 024715.3(TXNDC15): c.103+1G> ASNVLikely pathogenicrs886039792GRCh38Chr 5, 134874531: 134874531
24EXOC3L2NM_ 138568.3(EXOC3L2): c.398dupC (p.Leu134Thrfs)duplicationLikely pathogenicrs886039793GRCh37Chr 19, 45730926: 45730926
25MKS1NM_ 017777.3(MKS1): c.261+2T> ASNVPathogenicrs886039803GRCh38Chr 17, 58216664: 58216664
26TMEM138NM_ 016464.4(TMEM138): c.134A> G (p.Gln45Arg)SNVLikely pathogenicrs886039804GRCh38Chr 11, 61366050: 61366050
27CEP290NM_ 025114.3(CEP290): c.673_ 674delTT (p.Leu225Asnfs)deletionPathogenicrs886039805GRCh37Chr 12, 88523649: 88523650
28KIAA0586NM_ 001244189.1(KIAA0586): c.2566T> G (p.Ser856Ala)SNVLikely pathogenicrs886039806GRCh38Chr 14, 58467887: 58467887
29CEP290NM_ 025114.3(CEP290): c.4437+1G> ASNVPathogenic/ Likely pathogenicrs760915898GRCh37Chr 12, 88479815: 88479815
30MKS1NM_ 017777.3(MKS1): c.367dupC (p.Arg123Profs)duplicationLikely pathogenicrs775043799GRCh38Chr 17, 58216138: 58216138
31MKS1NM_ 017777.3(MKS1): c.1394delC (p.Pro465Glnfs)deletionLikely pathogenicrs865870355GRCh37Chr 17, 56284459: 56284459
32RPGRIP1LNM_ 015272.4(RPGRIP1L): c.1072_ 1073dupTT (p.Leu358Phefs)duplicationPathogenicGRCh38Chr 16, 53671540: 53671541
33RPGRIP1LNM_ 015272.4(RPGRIP1L): c.2794_ 2795delTT (p.Leu932Argfs)deletionPathogenicrs778824093GRCh38Chr 16, 53641364: 53641365
34TMEM67NM_ 153704.5(TMEM67): c.2314_ 2322+4delinsGGindelPathogenicGRCh38Chr 8, 93803676: 93803688
35CC2D2ANM_ 001080522.2(CC2D2A): c.1267C> T (p.Arg423Ter)SNVPathogenicrs757208121GRCh38Chr 4, 15527564: 15527564
36CC2D2ANC_ 000004.12: g.(?_ 15478723)_ (15480827_ ?)deldeletionPathogenicGRCh37Chr 4, 15480347: 15482451
37MKS1NM_ 017777.3(MKS1): c.1048C> G (p.Gln350Glu)SNVLikely pathogenicrs386834041GRCh37Chr 17, 56285921: 56285921
38MKS1NM_ 017777.3(MKS1): c.1048C> T (p.Gln350Ter)SNVLikely pathogenicrs386834041GRCh37Chr 17, 56285921: 56285921
39MKS1NM_ 017777.3(MKS1): c.1407+2delTdeletionLikely pathogenicrs386834042GRCh37Chr 17, 56284444: 56284444
40MKS1NM_ 017777.3(MKS1): c.1450_ 1453dupGGCA (p.Thr485Argfs)duplicationPathogenic/ Likely pathogenicrs386834044GRCh37Chr 17, 56283863: 56283866
41MKS1NM_ 017777.3(MKS1): c.1490G> A (p.Arg497Lys)SNVLikely pathogenicrs386834045GRCh37Chr 17, 56283826: 56283826
42MKS1NM_ 017777.3(MKS1): c.184_ 190delACTGCCA (p.Thr62Valfs)deletionLikely pathogenicrs386834046GRCh37Chr 17, 56295981: 56295987
43MKS1NM_ 017777.3(MKS1): c.392_ 393delCT (p.Ser131Terfs)deletionLikely pathogenicrs386834047GRCh37Chr 17, 56293473: 56293474
44MKS1NM_ 017777.3(MKS1): c.424C> T (p.Gln142Ter)SNVLikely pathogenicrs386834049GRCh37Chr 17, 56292193: 56292193
45MKS1NM_ 017777.3(MKS1): c.472C> T (p.Arg158Ter)SNVLikely pathogenicrs386834050GRCh37Chr 17, 56292145: 56292145
46MKS1NM_ 017777.3(MKS1): c.515+1G> ASNVLikely pathogenicrs201933838GRCh37Chr 17, 56292101: 56292101
47MKS1NM_ 017777.3(MKS1): c.51_ 55dupCCGGG (p.Asp19Alafs)duplicationLikely pathogenicrs386834051GRCh37Chr 17, 56296537: 56296541
48MKS1NM_ 017777.3(MKS1): c.958G> A (p.Val320Ile)SNVLikely pathogenicrs386834053GRCh37Chr 17, 56288341: 56288341
49TMEM67NM_ 153704.5(TMEM67): c.1046T> C (p.Leu349Ser)SNVPathogenic/ Likely pathogenicrs386834180GRCh37Chr 8, 94793953: 94793953
50TMEM231NM_ 001077416.2(TMEM231): c.823G> A (p.Val275Ile)SNVPathogenic/ Likely pathogenicrs397514753GRCh37Chr 16, 75576500: 75576500
51CEP290NM_ 025114.3(CEP290): c.3175dupA (p.Ile1059Asnfs)duplicationPathogenicrs62640570GRCh37Chr 12, 88487681: 88487681

Copy number variations for Meckel Syndrome 1 from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
13374814760000059900000Copy numberMeckel-Gruber syndrome

Expression for genes affiliated with Meckel Syndrome 1

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

Pathways for genes affiliated with Meckel Syndrome 1

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GO Terms for genes affiliated with Meckel Syndrome 1

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1centrioleGO:000581410.9CEP290, LRRCC1, MKS1
2axonemeGO:000593010.8ARL13B, RPGRIP1, RPGRIP1L, WDPCP
3ciliary membraneGO:006017010.8ARL13B, TCTN2, TMEM231, TMEM67
4ciliary basal bodyGO:003606410.7B9D1, B9D2, CEP290, MKS1, RPGRIP1L
5microtubule organizing centerGO:000581510.5CEP290, CSPP1, MKS1, RPGRIP1L
6centrosomeGO:000581310.3B9D1, B9D2, CEP290, CSPP1, LRRCC1, MKS1
7ciliary transition zoneGO:003586910.1B9D1, B9D2, CC2D2A, CEP290, MKS1, RPGRIP1L
8photoreceptor connecting ciliumGO:003239110.0CEP290, NPHP1, RPGRIP1, RPGRIP1L
9ciliumGO:00059299.8ARL13B, B9D2, CC2D2A, CEP290, MKS1, NPHP1
10MKS complexGO:00360389.8B9D1, B9D2, CC2D2A, CEP290, MKS1, TCTN1
11cell projectionGO:00429959.5ARL13B, B9D1, B9D2, CC2D2A, CEP290, MKS1
12cytoskeletonGO:00058569.5B9D1, B9D2, CC2D2A, CEP290, CSPP1, LRRCC1

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1embryonic brain developmentGO:199040310.9CC2D2A, MKS1
2head developmentGO:006032210.9MKS1, RPGRIP1L
3motile cilium assemblyGO:004445810.9CC2D2A, MKS1
4eye photoreceptor cell developmentGO:004246210.8CEP290, RPGRIP1
5neural tube patterningGO:002153210.8ARL13B, RPGRIP1L
6protein localization to ciliary transition zoneGO:190449110.8CC2D2A, TCTN1
7embryonic digit morphogenesisGO:004273310.7B9D1, MKS1, WDPCP
8camera-type eye developmentGO:004301010.7B9D1, CC2D2A, RPGRIP1L, WDPCP
9determination of left/right symmetryGO:000736810.7ARL13B, CC2D2A, MKS1, RPGRIP1L
10regulation of smoothened signaling pathwayGO:000858910.6MKS1, RPGRIP1L, TCTN1
11non-motile cilium assemblyGO:190551510.6ARL13B, CC2D2A, MKS1, RPGRIP1L
12telencephalon developmentGO:002153710.2RPGRIP1L, TCTN1
13smoothened signaling pathwayGO:000722410.2ARL13B, B9D1, CC2D2A, TCTN2, TMEM231, WDPCP
14ciliary basal body dockingGO:00977119.9B9D1, B9D2, CC2D2A, CEP290, MKS1, NPHP1
15cell projection organizationGO:00300309.7B9D1, B9D2, CC2D2A, CEP290, MKS1, NPHP1
16cilium assemblyGO:00602719.6ARL13B, B9D1, B9D2, CC2D2A, CEP290, MKS1

Sources for Meckel Syndrome 1

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2CDC
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