MCID: MCK022
MIFTS: 53

Meckel Syndrome 1 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 51 69 26 12
Meckel Syndrome 11 47 24 25 53 13
Meckel-Gruber Syndrome 11 25 53 69 67
Dysencephalia Splanchnocystica 25 69
Meckel Gruber Syndrome 47 26
Gruber Syndrome 47 69
 
Mks 47 25
Dysencephalia Splachnocystica 47
Meckel Syndrome Type 1 67
Mks1 69
Mes 69

Characteristics:

Orphanet epidemiological data:

53
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:

63
meckel syndrome 1:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 249000
Disease Ontology11 DOID:0050778
ICD9CM31 753.1, 753.10
Orphanet53 ORPHA564
UMLS via Orphanet68 C0265215
ICD10 via Orphanet30 Q61.9

Summaries for Meckel Syndrome 1

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OMIM:51 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 multicystic kidney dysplasia, microcephaly and postaxial hand polydactyly. 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 craniofacial.

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

UniProtKB/Swiss-Prot:69 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.

NIH Rare Diseases:47 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

Wikipedia:70 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 55)
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 1212.1
7meckel syndrome 812.1
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 1311.6
26nephronophthisis 1, juvenile11.2
27smith-lemli-opitz syndrome11.1
28cartilage-hair hypoplasia10.8
29megaesophagus10.8
30mckusick-kaufman syndrome10.7
31malignant spiradenoma10.7
32huntington disease-like 310.6CC2D2A, RPGRIP1L, TMEM67
33isobutyryl-coa dehydrogenase deficiency10.6MKS1, TMEM216, TMEM67
34chiari malformation10.6CC2D2A, CEP290, TMEM216, TMEM231
35corneal dystrophy, congenital stromal10.5CEP290, TMEM67
36jeune syndrome situs inversus10.5NPHP1, RPGRIP1L
37nephronophthisis 410.5NPHP1, TMEM67
38fragile x-associated tremor/ataxia syndrome10.5NPHP1, PKHD1, TMEM67
39acrofacial dysostosis10.5ARL13B, RPGRIP1L, TMEM216, TMEM231
40creatine deficiency syndromes10.5B9D2, CC2D2A, PKHD1, RPGRIP1L, TMEM67
41auditory agnosia10.4ARL13B, CC2D2A, NPHP1, TMEM216, TMEM231
42taeniasis10.3ARL13B, CSPP1, RPGRIP1L
43senior-loken syndrome-110.3ARL13B, CC2D2A, CEP290, MKS1, NPHP1, TMEM216
44hepatopulmonary syndrome10.2PKHD1, TMEM67
45telogen effluvium10.2ARL13B, CEP290, MKS1, NPHP1, RPGRIP1L, TMEM67
46telangiectasis10.1CEP290, MKS1, NPHP1, PKHD1, RPGRIP1, RPGRIP1L
47cleft tongue10.1B9D1, B9D2, CC2D2A, CEP290, MKS1, RPGRIP1L
48kat6b-related disorders9.9ARL13B, CC2D2A, CEP290, NPHP1, RPGRIP1L, TCTN1
49acrodermatitis chronica atrophicans9.9ARL13B, B9D1, B9D2, CC2D2A, CEP290, MKS1
50polydactyly9.9

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



Diseases related to meckel syndrome 1

Symptoms 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:

 63 53 (show all 91)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 multicystic kidney dysplasia63 53 hallmark (90%) Very frequent (99-80%) HP:0000003
2 microcephaly63 53 hallmark (90%) Very frequent (99-80%) HP:0000252
3 postaxial hand polydactyly63 53 hallmark (90%) Very frequent (99-80%) HP:0001162
4 postaxial foot polydactyly63 53 hallmark (90%) Very frequent (99-80%) HP:0001830
5 encephalocele63 53 hallmark (90%) Very frequent (99-80%) HP:0002084
6 congenital hepatic fibrosis63 53 hallmark (90%) Very frequent (99-80%) HP:0002612
7 cryptorchidism63 53 typical (50%) Frequent (79-30%) HP:0000028
8 cleft palate63 53 typical (50%) Frequent (79-30%) HP:0000175
9 full cheeks63 53 typical (50%) Frequent (79-30%) HP:0000293
10 hypertelorism63 53 typical (50%) Frequent (79-30%) HP:0000316
11 sloping forehead63 53 typical (50%) Frequent (79-30%) HP:0000340
12 micrognathia63 53 typical (50%) Frequent (79-30%) HP:0000347
13 low-set, posteriorly rotated ears63 53 typical (50%) Frequent (79-30%) HP:0000368
14 depressed nasal ridge63 53 typical (50%) Frequent (79-30%) HP:0000457
15 microcornea63 53 typical (50%) Frequent (79-30%) HP:0000482
16 cataract63 53 typical (50%) Frequent (79-30%) HP:0000518
17 chorioretinal abnormality63 53 typical (50%) Frequent (79-30%) HP:0000532
18 sclerocornea63 53 typical (50%) Frequent (79-30%) HP:0000647
19 optic atrophy63 53 typical (50%) Frequent (79-30%) HP:0000648
20 holoprosencephaly63 typical (50%) HP:0001360
21 oligohydramnios63 53 typical (50%) Frequent (79-30%) HP:0001562
22 talipes63 53 typical (50%) Frequent (79-30%) HP:0001883
23 aplasia/hypoplasia of the iris63 53 typical (50%) Frequent (79-30%) HP:0008053
24 male pseudohermaphroditism63 53 occasional (7.5%) Occasional (29-5%) HP:0000037
25 furrowed tongue63 53 occasional (7.5%) Occasional (29-5%) HP:0000221
26 hydrocephalus63 53 occasional (7.5%) Occasional (29-5%) HP:0000238
27 abnormality of the urethra63 occasional (7.5%) HP:0000795
28 preaxial hand polydactyly63 53 occasional (7.5%) Occasional (29-5%) HP:0001177
29 dandy-walker malformation63 53 occasional (7.5%) Occasional (29-5%) HP:0001305
30 situs inversus totalis63 53 occasional (7.5%) Occasional (29-5%) HP:0001696
31 pancreatic cysts63 53 occasional (7.5%) Occasional (29-5%) HP:0001737
32 abnormality of the spleen63 occasional (7.5%) HP:0001743
33 anencephaly63 53 occasional (7.5%) Occasional (29-5%) HP:0002323
34 bowing of the long bones63 53 occasional (7.5%) Occasional (29-5%) HP:0006487
35 cystic liver disease63 53 occasional (7.5%) Occasional (29-5%) HP:0006706
36 aplasia/hypoplasia of the corpus callosum63 53 occasional (7.5%) Occasional (29-5%) HP:0007370
37 aplasia/hypoplasia of the tongue63 53 occasional (7.5%) Occasional (29-5%) HP:0010295
38 true hermaphroditism63 53 occasional (7.5%) Occasional (29-5%) HP:0010459
39 pancreatic fibrosis63 53 occasional (7.5%) Occasional (29-5%) HP:0100732
40 ambiguous genitalia, male63 HP:0000033
41 ambiguous genitalia, female63 HP:0000061
42 abnormality of the ureter63 HP:0000069
43 renal agenesis63 HP:0000104
44 polycystic kidney dysplasia63 HP:0000113
45 abnormality of the uterus63 HP:0000130
46 wide mouth63 HP:0000154
47 lobulated tongue63 HP:0000180
48 cleft upper lip63 HP:0000204
49 low-set ears63 HP:0000369
50 webbed neck63 HP:0000465
51 short neck63 HP:0000470
52 microphthalmia63 53 Frequent (79-30%) HP:0000568
53 hypotelorism63 HP:0000601
54 iris coloboma63 HP:0000612
55 natal tooth63 HP:0000695
56 adrenal hypoplasia63 HP:0000835
57 syndactyly63 HP:0001159
58 single umbilical artery63 HP:0001195
59 agenesis of corpus callosum63 HP:0001274
60 cerebellar hypoplasia63 HP:0001321
61 olfactory lobe agenesis63 HP:0001341
62 bile duct proliferation63 HP:0001408
63 intrauterine growth retardation63 HP:0001511
64 omphalocele63 HP:0001539
65 abnormality of the larynx63 HP:0001600
66 breech presentation63 HP:0001623
67 patent ductus arteriosus63 HP:0001643
68 abnormality of the cardiac septa63 HP:0001671
69 coarctation of aorta63 HP:0001680
70 splenomegaly63 HP:0001744
71 asplenia63 53 Occasional (29-5%) HP:0001746
72 accessory spleen63 53 Occasional (29-5%) HP:0001747
73 foot polydactyly63 HP:0001829
74 anal atresia63 HP:0002023
75 occipital encephalocele63 HP:0002085
76 pulmonary hypoplasia63 HP:0002089
77 arnold-chiari malformation63 HP:0002308
78 intestinal malrotation63 HP:0002566
79 external genital hypoplasia63 HP:0003241
80 elevated amniotic fluid alpha-fetoprotein63 HP:0004639
81 hypoplasia of the bladder63 HP:0005343
82 large placenta63 HP:0006267
83 cerebral hypoplasia63 HP:0006872
84 radial deviation of finger63 HP:0009466
85 clinodactyly63 HP:0030084
86 ambiguous genitalia53 Frequent (79-30%)
87 urethral atresia53 Occasional (29-5%)
88 ureteral duplication53 Occasional (29-5%)
89 anophthalmia53 Occasional (29-5%)
90 malformation of the heart and great vessels53 Occasional (29-5%)
91 lobar holoprosencephaly53 Frequent (79-30%)

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 Syndrome26
2 Meckel Syndrome Type 126
3 Meckel Syndrome24 TMEM67

Anatomical Context for Meckel Syndrome 1

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MalaCards organs/tissues related to Meckel Syndrome 1:

35
Kidney, Liver, Brain, Lung, Tongue, Bone, Spleen

Animal Models for Meckel Syndrome 1 or affiliated genes

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MGI Mouse Phenotypes related to Meckel Syndrome 1:

40 (show all 13)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537010.5B9D1, B9D2, CEP290, MKS1, PKHD1, RPGRIP1L
2MP:000538210.5B9D1, CC2D2A, CEP290, MKS1, RPGRIP1L, TCTN2
3MP:000538110.4B9D1, B9D2, CC2D2A, MKS1, PKHD1, TCTN2
4MP:000537110.3B9D1, CC2D2A, MKS1, RPGRIP1L, TCTN1, TCTN2
5MP:000538810.3ARL13B, B9D2, CC2D2A, CEP290, MKS1, PKHD1
6MP:000538510.2B9D1, CC2D2A, CEP290, MKS1, PKHD1, RPGRIP1L
7MP:000536710.2B9D1, CC2D2A, CEP290, MKS1, NPHP1, PKHD1
8MP:000538010.2ARL13B, B9D1, CC2D2A, MKS1, RPGRIP1L, TCTN1
9MP:000537810.1ARL13B, B9D1, B9D2, CC2D2A, CEP290, MKS1
10MP:000538410.1B9D1, B9D2, CC2D2A, CEP290, MKS1, NPHP1
11MP:00107689.9ARL13B, B9D1, B9D2, CC2D2A, CEP290, MKS1
12MP:00036319.8ARL13B, B9D1, CC2D2A, CEP290, MKS1, PKHD1
13MP:00053919.3B9D1, CC2D2A, CEP290, MKS1, NPHP1, RPGRIP1

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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Clinvar genetic disease variations for Meckel Syndrome 1:

5 (show all 33)
id Gene Variation Type Significance SNP ID Assembly Location
1CSPP1NM_024790.6(CSPP1): c.2244_2247delAAGA (p.Glu750Lysfs)deletionLikely pathogenic, Pathogenicrs587777145GRCh37Chr 8, 68070699: 68070702
2CC2D2ANM_001080522.2(CC2D2A): c.394C> T (p.Arg132Ter)SNVPathogenicrs377177061GRCh37Chr 4, 15504502: 15504502
3CEP290NM_025114.3(CEP290): c.4621delA (p.Thr1541Profs)deletionPathogenicrs587779733GRCh37Chr 12, 88478446: 88478446
4CEP290NM_025114.3(CEP290): c.5668G> T (p.Gly1890Ter)SNVPathogenicrs137852832GRCh37Chr 12, 88471040: 88471040
5MKS1NM_017777.3(MKS1): c.50_54dupCCCGG (p.Asp19Profs)duplicationPathogenicrs730880323GRCh37Chr 17, 56296538: 56296542
6MKS1NM_017777.3(MKS1): c.80+2T> CSNVLikely pathogenic, Pathogenicrs386834052GRCh37Chr 17, 56296510: 56296510
7MKS1NM_017777.3(MKS1): c.1024+1G> ASNVLikely pathogenic, Pathogenicrs199874059GRCh37Chr 17, 56288019: 56288019
8MKS1NM_017777.3(MKS1): c.417G> A (p.Glu139=)SNVLikely pathogenic, Pathogenicrs386834048GRCh37Chr 17, 56293449: 56293449
9MKS1NM_001165927.1(MKS1): c.1378-34_1378-6del29deletionPathogenicrs386834043GRCh37Chr 17, 56283914: 56283942
10MKS1NM_017777.3(MKS1): c.1066C> T (p.Gln356Ter)SNVLikely pathogenic, Pathogenicrs786205508GRCh37Chr 17, 56285903: 56285903
11MKS1NM_001165927.1(MKS1): c.995-2A> CSNVPathogenicrs794727070GRCh37Chr 17, 56285946: 56285946
12MKS1NM_017777.3(MKS1): c.844C> T (p.Arg282Ter)SNVPathogenicrs797045706GRCh38Chr 17, 58212996: 58212996
13CC2D2ANM_001080522.2(CC2D2A): c.4667A> T (p.Asp1556Val)SNVPathogenicrs201502401GRCh37Chr 4, 15601322: 15601322
14TCTN2NM_024809.4(TCTN2): c.1117G> A (p.Gly373Arg)SNVPathogenicrs187433682GRCh37Chr 12, 124179406: 124179406
15MKS1NM_017777.3(MKS1): c.261+2T> ASNVPathogenicrs886039803GRCh38Chr 17, 58216664: 58216664
16CEP290NM_025114.3(CEP290): c.673_674delTT (p.Leu225Asnfs)deletionPathogenicrs886039805GRCh37Chr 12, 88523649: 88523650
17MKS1NM_017777.3: c.367dupCduplicationLikely pathogenicChr na, -1: -1
18MKS1NM_017777.3: c.1394delCdeletionLikely pathogenicChr na, -1: -1
19MKS1NM_017777.3(MKS1): c.1048C> G (p.Gln350Glu)SNVLikely pathogenicrs386834041GRCh37Chr 17, 56285921: 56285921
20MKS1NM_017777.3(MKS1): c.1048C> T (p.Gln350Ter)SNVLikely pathogenicrs386834041GRCh37Chr 17, 56285921: 56285921
21MKS1NM_017777.3(MKS1): c.1407+2delTdeletionLikely pathogenicrs386834042GRCh37Chr 17, 56284444: 56284444
22MKS1NM_017777.3(MKS1): c.1450_1453dupGGCA (p.Thr485Argfs)duplicationLikely pathogenic, Pathogenicrs386834044GRCh37Chr 17, 56283863: 56283866
23MKS1NM_017777.3(MKS1): c.1490G> A (p.Arg497Lys)SNVLikely pathogenicrs386834045GRCh37Chr 17, 56283826: 56283826
24MKS1NM_017777.3(MKS1): c.184_190delACTGCCA (p.Thr62Valfs)deletionLikely pathogenicrs386834046GRCh37Chr 17, 56295981: 56295987
25MKS1NM_017777.3(MKS1): c.392_393delCT (p.Ser131Terfs)deletionLikely pathogenicrs386834047GRCh37Chr 17, 56293473: 56293474
26MKS1NM_017777.3(MKS1): c.424C> T (p.Gln142Ter)SNVLikely pathogenicrs386834049GRCh37Chr 17, 56292193: 56292193
27MKS1NM_017777.3(MKS1): c.472C> T (p.Arg158Ter)SNVLikely pathogenicrs386834050GRCh37Chr 17, 56292145: 56292145
28MKS1NM_017777.3(MKS1): c.515+1G> ASNVLikely pathogenicrs201933838GRCh37Chr 17, 56292101: 56292101
29MKS1NM_017777.3(MKS1): c.51_55dupCCGGG (p.Asp19Alafs)duplicationLikely pathogenicrs386834051GRCh37Chr 17, 56296537: 56296541
30MKS1NM_017777.3(MKS1): c.958G> A (p.Val320Ile)SNVLikely pathogenicrs386834053GRCh37Chr 17, 56288341: 56288341
31TMEM67NM_153704.5(TMEM67): c.1046T> C (p.Leu349Ser)SNVLikely pathogenic, Pathogenicrs386834180GRCh37Chr 8, 94793953: 94793953
32TMEM231NM_001077416.2(TMEM231): c.823G> A (p.Val275Ile)SNVLikely pathogenic, Pathogenicrs397514753GRCh37Chr 16, 75576500: 75576500
33CEP290NM_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:

idNameGO IDScoreTop Affiliating Genes
1photoreceptor connecting ciliumGO:003239110.7CEP290, NPHP1, RPGRIP1
2ciliary basal bodyGO:003606410.3B9D1, B9D2, CEP290, MKS1, PKHD1, RPGRIP1L
3ciliary transition zoneGO:003586910.1B9D1, CC2D2A, CEP290, MKS1, RPGRIP1L, TCTN1
4axonemeGO:000593010.1ARL13B, RPGRIP1, RPGRIP1L, WDPCP
5ciliary membraneGO:006017010.0ARL13B, TCTN2, TMEM231, TMEM67
6MKS complexGO:003603810.0B9D1, B9D2, CC2D2A, CEP290, MKS1, TCTN1
7ciliumGO:000592910.0ARL13B, RPGRIP1, RPGRIP1L, TMEM216
8centrosomeGO:00058139.9B9D1, B9D2, CEP290, CSPP1, MKS1, PKHD1
9cytoskeletonGO:00058569.6CC2D2A, NPHP1, TCTN1, TCTN2, TMEM216, WDPCP

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1neural tube patterningGO:002153210.8ARL13B, RPGRIP1L
2protein localization to ciliary transition zoneGO:190449110.7CC2D2A, TCTN1
3eye photoreceptor cell developmentGO:004246210.7CEP290, RPGRIP1
4telencephalon developmentGO:002153710.7RPGRIP1L, TCTN1
5embryonic brain developmentGO:199040310.6CC2D2A, MKS1
6regulation of smoothened signaling pathwayGO:000858910.5MKS1, RPGRIP1L, TCTN1
7embryonic digit morphogenesisGO:004273310.5B9D1, MKS1, WDPCP
8head developmentGO:006032210.5MKS1, RPGRIP1L
9kidney developmentGO:000182210.4PKHD1, RPGRIP1L, WDPCP
10establishment of planar polarityGO:000173610.4RPGRIP1L, WDPCP
11camera-type eye developmentGO:004301010.3B9D1, CC2D2A, RPGRIP1L, WDPCP
12smoothened signaling pathwayGO:000722410.1ARL13B, B9D1, CC2D2A, TCTN2, TMEM231, WDPCP
13determination of left/right symmetryGO:000736810.0ARL13B, CC2D2A, MKS1, RPGRIP1L
14cilium assemblyGO:00602718.9ARL13B, B9D1, B9D2, CC2D2A, CEP290, MKS1

Sources for Meckel Syndrome 1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet