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

Aliases & Descriptions for Meckel Syndrome 1:

Name: Meckel Syndrome 1 54 66 29 13
Meckel Syndrome 12 50 24 25 56 14
Meckel-Gruber Syndrome 12 25 56 66 69
Dysencephalia Splanchnocystica 25 66
Meckel Gruber Syndrome 50 29
Gruber Syndrome 50 66
Mks 50 25
Dysencephalia Splachnocystica 50
Meckel Syndrome Type 1 69
Mks1 66
Mes 66

Characteristics:

Orphanet epidemiological data:

56
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:

32
meckel syndrome 1:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 249000
Disease Ontology 12 DOID:0050778
ICD9CM 35 753.1 753.10
Orphanet 56 ORPHA564
UMLS via Orphanet 70 C0265215
ICD10 via Orphanet 34 Q61.9
UMLS 69 C0311245

Summaries for Meckel Syndrome 1

OMIM : 54 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 hypertelorism, hydrocephalus and cataract. An important gene associated with Meckel Syndrome 1 is MKS1 (Meckel Syndrome, Type 1), and among its related pathways/superpathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. Affiliated tissues include kidney, liver and brain, and related phenotypes are cellular and cardiovascular system

NIH Rare Diseases : 50 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 : 66 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 : 12 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

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)
id Related Disease Score Top Affiliating Genes
1 meckel syndrome 7 12.1
2 meckel syndrome 3 12.1
3 meckel syndrome 4 12.1
4 meckel syndrome 2 12.1
5 meckel syndrome 9 12.1
6 meckel syndrome 12 12.0
7 meckel syndrome 8 12.0
8 meckel syndrome 5 12.0
9 meckel syndrome 6 12.0
10 meckel syndrome 10 12.0
11 meckel syndrome 11 12.0
12 tctn2-related meckel syndrome 11.8
13 tmem231-related meckel syndrome 11.7
14 b9d1-related meckel syndrome 11.7
15 b9d2-related meckel syndrome 11.7
16 kif14-related meckel syndrome 11.7
17 cc2d2a-related meckel syndrome 11.7
18 tmem67-related meckel syndrome 11.7
19 cep290-related meckel syndrome 11.7
20 mks1-related meckel syndrome 11.7
21 cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome 11.7
22 nphp3-related meckel syndrome 11.7
23 rpgrip1l-related meckel syndrome 11.7
24 tmem216-related meckel syndrome 11.7
25 bardet-biedl syndrome 13 11.5
26 joubert syndrome 28 11.4
27 chronic fatigue syndrome 11.2
28 nephronophthisis 1, juvenile 11.2
29 mckusick-kaufman syndrome 11.1
30 smith-lemli-opitz syndrome 11.1
31 menkes disease 10.9
32 malignant spiradenoma 10.8
33 megaesophagus 10.8
34 cri-du-chat syndrome 10.8
35 cartilage-hair hypoplasia 10.8
36 retinitis pigmentosa 41 10.3 CC2D2A RPGRIP1L TMEM67
37 dicer1-related disorders 10.3 B9D2 CC2D2A RPGRIP1L TMEM67
38 juvenile polymyositis 10.3 NPHP1 RPGRIP1L
39 hemorrhagic destruction of the brain, subependymal calcification, and cataracts 10.3 MKS1 TMEM216 TMEM67
40 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.3 CC2D2A RPGRIP1L TMEM67 WDPCP
41 frontonasal dysplasia 3 10.3 CEP290 TMEM67
42 nephronophthisis 4 10.3 NPHP1 TMEM67
43 2,4-dienoyl-coa reductase deficiency 10.2 ARL13B RPGRIP1 TMEM216 TMEM231
44 cerebral atherosclerosis 10.2 CEP290 NPHP1 TMEM67
45 carney complex, type 1 10.2 CC2D2A CEP290 MKS1 RPGRIP1L TMEM67 WDPCP
46 lrrk2-related parkinson disease 10.2 CC2D2A CEP290 NPHP1 RPGRIP1L TMEM231 TMEM67
47 intestinal schistosomiasis 10.2 ARL13B CSPP1 RPGRIP1L TCTN1 TCTN2
48 puerperal pulmonary embolism 10.2 CC2D2A CEP290 RPGRIP1
49 age-related hearing impairment 2 10.2 B9D1 B9D2 CC2D2A CEP290 MKS1 RPGRIP1L
50 joubert syndrome 4 10.2 ARL13B 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

Symptoms by clinical synopsis from OMIM:

249000

Clinical features from OMIM:

249000

Human phenotypes related to Meckel Syndrome 1:

56 32 (show top 50) (show all 88)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 56 32 Frequent (79-30%) HP:0000316
2 hydrocephalus 56 32 Occasional (29-5%) HP:0000238
3 cataract 56 32 Frequent (79-30%) HP:0000518
4 bowing of the long bones 56 32 Occasional (29-5%) HP:0006487
5 microcephaly 56 32 Very frequent (99-80%) HP:0000252
6 optic atrophy 56 32 Frequent (79-30%) HP:0000648
7 full cheeks 56 32 Frequent (79-30%) HP:0000293
8 cleft palate 56 32 Frequent (79-30%) HP:0000175
9 micrognathia 56 32 Frequent (79-30%) HP:0000347
10 cryptorchidism 56 32 Frequent (79-30%) HP:0000028
11 depressed nasal ridge 56 32 Frequent (79-30%) HP:0000457
12 microphthalmia 56 32 Frequent (79-30%) HP:0000568
13 multicystic kidney dysplasia 56 32 Very frequent (99-80%) HP:0000003
14 pancreatic cysts 56 32 Occasional (29-5%) HP:0001737
15 low-set, posteriorly rotated ears 56 32 Frequent (79-30%) HP:0000368
16 congenital hepatic fibrosis 56 32 Very frequent (99-80%) HP:0002612
17 aplasia/hypoplasia of the iris 56 32 Frequent (79-30%) HP:0008053
18 oligohydramnios 56 32 Frequent (79-30%) HP:0001562
19 chorioretinal abnormality 56 32 Frequent (79-30%) HP:0000532
20 sclerocornea 56 32 Frequent (79-30%) HP:0000647
21 male pseudohermaphroditism 56 32 Occasional (29-5%) HP:0000037
22 pancreatic fibrosis 56 32 Occasional (29-5%) HP:0100732
23 preaxial hand polydactyly 56 32 Occasional (29-5%) HP:0001177
24 microcornea 56 32 Frequent (79-30%) HP:0000482
25 furrowed tongue 56 32 Occasional (29-5%) HP:0000221
26 aplasia/hypoplasia of the corpus callosum 56 32 Occasional (29-5%) HP:0007370
27 postaxial hand polydactyly 56 32 Very frequent (99-80%) HP:0001162
28 postaxial foot polydactyly 56 32 Very frequent (99-80%) HP:0001830
29 urethral atresia 56 32 Occasional (29-5%) HP:0000068
30 ureteral duplication 56 32 Occasional (29-5%) HP:0000073
31 sloping forehead 56 32 Frequent (79-30%) HP:0000340
32 anophthalmia 56 32 Occasional (29-5%) HP:0000528
33 dandy-walker malformation 56 32 Occasional (29-5%) HP:0001305
34 situs inversus totalis 56 32 Occasional (29-5%) HP:0001696
35 asplenia 56 32 Occasional (29-5%) HP:0001746
36 accessory spleen 56 32 Occasional (29-5%) HP:0001747
37 talipes 56 32 Frequent (79-30%) HP:0001883
38 encephalocele 56 32 Very frequent (99-80%) HP:0002084
39 anencephaly 56 32 Occasional (29-5%) HP:0002323
40 cystic liver disease 56 32 Occasional (29-5%) HP:0006706
41 lobar holoprosencephaly 56 32 Frequent (79-30%) HP:0006870
42 aplasia/hypoplasia of the tongue 56 32 Occasional (29-5%) HP:0010295
43 true hermaphroditism 56 32 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 56 Occasional (29-5%)
50 patent ductus arteriosus 32 HP:0001643

MGI Mouse Phenotypes related to Meckel Syndrome 1:

44 (show all 11)
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.18 B9D1 B9D2 CC2D2A CEP290 MKS1 NPHP1
2 cardiovascular system MP:0005385 10.15 TMEM67 WDPCP B9D1 CC2D2A CEP290 MKS1
3 embryo MP:0005380 10.1 MKS1 RPGRIP1L TCTN1 TCTN2 TMEM231 TMEM67
4 nervous system MP:0003631 10.07 ARL13B B9D1 CC2D2A CEP290 LRRCC1 MKS1
5 craniofacial MP:0005382 10.06 B9D1 CC2D2A CEP290 MKS1 RPGRIP1L TCTN2
6 limbs/digits/tail MP:0005371 10.02 TMEM231 TMEM67 WDPCP B9D1 CC2D2A MKS1
7 digestive/alimentary MP:0005381 9.98 B9D1 B9D2 CC2D2A MKS1 TCTN2 TMEM67
8 liver/biliary system MP:0005370 9.8 B9D1 B9D2 CEP290 MKS1 RPGRIP1L TMEM67
9 renal/urinary system MP:0005367 9.76 B9D1 CC2D2A CEP290 MKS1 NPHP1 RPGRIP1L
10 respiratory system MP:0005388 9.5 ARL13B B9D2 CC2D2A CEP290 MKS1 RPGRIP1L
11 vision/eye MP:0005391 9.32 B9D1 CC2D2A CEP290 MKS1 NPHP1 RPGRIP1

Drugs & Therapeutics for Meckel Syndrome 1

Interventional clinical trials:


id Name Status NCT ID Phase
1 UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource Recruiting NCT01401998

Search NIH Clinical Center for Meckel Syndrome 1

Genetic Tests for Meckel Syndrome 1

Genetic tests related to Meckel Syndrome 1:

id Genetic test Affiliating Genes
1 Meckel-Gruber Syndrome 29
2 Meckel Syndrome Type 1 29
3 Meckel Syndrome 24 TMEM67

Anatomical Context for Meckel Syndrome 1

MalaCards organs/tissues related to Meckel Syndrome 1:

39
Kidney, Liver, Brain, Lung, Tongue, Bone, Placenta

Publications for Meckel Syndrome 1

Articles related to Meckel Syndrome 1:

id Title Authors Year
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

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

66
id Symbol AA change Variation ID SNP ID
1 MKS1 p.Asp19Tyr VAR_077515 rs863225205

ClinVar genetic disease variations for Meckel Syndrome 1:

6 (show top 50) (show all 51)
id Gene Variation Type Significance SNP ID Assembly Location
1 RPGRIP1L NM_015272.4(RPGRIP1L): c.685G> A (p.Ala229Thr) single nucleotide variant risk factor rs61747071 GRCh37 Chromosome 16, 53720436: 53720436
2 CEP290 NM_025114.3(CEP290): c.5668G> T (p.Gly1890Ter) single nucleotide variant Pathogenic rs137852832 GRCh37 Chromosome 12, 88471040: 88471040
3 TMEM67 NM_153704.5(TMEM67): c.622A> T (p.Arg208Ter) single nucleotide variant Pathogenic rs137853108 GRCh37 Chromosome 8, 94777845: 94777845
4 MKS1 NM_017777.3(MKS1): c.50_54dupCCCGG (p.Asp19Profs) duplication Pathogenic rs730880323 GRCh37 Chromosome 17, 56296538: 56296542
5 MKS1 NM_017777.3(MKS1): c.80+2T> C single nucleotide variant Pathogenic/Likely pathogenic rs386834052 GRCh37 Chromosome 17, 56296510: 56296510
6 MKS1 NM_017777.3(MKS1): c.1024+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs199874059 GRCh37 Chromosome 17, 56288019: 56288019
7 MKS1 NM_017777.3(MKS1): c.1048C> G (p.Gln350Glu) single nucleotide variant Likely pathogenic rs386834041 GRCh37 Chromosome 17, 56285921: 56285921
8 MKS1 NM_017777.3(MKS1): c.1048C> T (p.Gln350Ter) single nucleotide variant Likely pathogenic rs386834041 GRCh37 Chromosome 17, 56285921: 56285921
9 MKS1 NM_017777.3(MKS1): c.1407+2delT deletion Likely pathogenic rs386834042 GRCh37 Chromosome 17, 56284444: 56284444
10 MKS1 NM_017777.3(MKS1): c.1450_1453dupGGCA (p.Thr485Argfs) duplication Pathogenic/Likely pathogenic rs386834044 GRCh37 Chromosome 17, 56283863: 56283866
11 MKS1 NM_017777.3(MKS1): c.1490G> A (p.Arg497Lys) single nucleotide variant Likely pathogenic rs386834045 GRCh37 Chromosome 17, 56283826: 56283826
12 MKS1 NM_017777.3(MKS1): c.184_190delACTGCCA (p.Thr62Valfs) deletion Likely pathogenic rs386834046 GRCh37 Chromosome 17, 56295981: 56295987
13 MKS1 NM_017777.3(MKS1): c.392_393delCT (p.Ser131Terfs) deletion Likely pathogenic rs386834047 GRCh37 Chromosome 17, 56293473: 56293474
14 MKS1 NM_017777.3(MKS1): c.424C> T (p.Gln142Ter) single nucleotide variant Likely pathogenic rs386834049 GRCh37 Chromosome 17, 56292193: 56292193
15 MKS1 NM_017777.3(MKS1): c.472C> T (p.Arg158Ter) single nucleotide variant Likely pathogenic rs386834050 GRCh37 Chromosome 17, 56292145: 56292145
16 MKS1 NM_017777.3(MKS1): c.515+1G> A single nucleotide variant Likely pathogenic rs201933838 GRCh37 Chromosome 17, 56292101: 56292101
17 MKS1 NM_017777.3(MKS1): c.51_55dupCCGGG (p.Asp19Alafs) duplication Likely pathogenic rs386834051 GRCh37 Chromosome 17, 56296537: 56296541
18 MKS1 NM_017777.3(MKS1): c.958G> A (p.Val320Ile) single nucleotide variant Likely pathogenic rs386834053 GRCh37 Chromosome 17, 56288341: 56288341
19 TMEM67 NM_153704.5(TMEM67): c.1046T> C (p.Leu349Ser) single nucleotide variant Pathogenic/Likely pathogenic rs386834180 GRCh37 Chromosome 8, 94793953: 94793953
20 TMEM231 NM_001077416.2(TMEM231): c.823G> A (p.Val275Ile) single nucleotide variant Pathogenic/Likely pathogenic rs397514753 GRCh37 Chromosome 16, 75576500: 75576500
21 CEP290 NM_025114.3(CEP290): c.3175dupA (p.Ile1059Asnfs) duplication Pathogenic rs62640570 GRCh37 Chromosome 12, 88487681: 88487681
22 CSPP1 NM_024790.6(CSPP1): c.2244_2247delAAGA (p.Glu750Lysfs) deletion Pathogenic/Likely pathogenic rs587777145 GRCh37 Chromosome 8, 68070699: 68070702
23 CC2D2A NM_001080522.2(CC2D2A): c.394C> T (p.Arg132Ter) single nucleotide variant Pathogenic rs377177061 GRCh37 Chromosome 4, 15504502: 15504502
24 CC2D2A NM_001080522.2(CC2D2A): c.4384T> C (p.Trp1462Arg) single nucleotide variant Likely pathogenic rs368720062 GRCh37 Chromosome 4, 15597777: 15597777
25 CC2D2A NM_001080522.2(CC2D2A): c.4407C> G (p.Ser1469Arg) single nucleotide variant Likely pathogenic rs587779732 GRCh38 Chromosome 4, 15596177: 15596177
26 CEP290 NM_025114.3(CEP290): c.4621delA (p.Thr1541Profs) deletion Pathogenic rs587779733 GRCh37 Chromosome 12, 88478446: 88478446
27 TMEM67 NM_153704.5(TMEM67): c.748G> A (p.Gly250Arg) single nucleotide variant Likely pathogenic rs587779736 GRCh37 Chromosome 8, 94792854: 94792854
28 CEP290 NM_025114.3(CEP290): c.6869dupA (p.Asn2290Lysfs) duplication Pathogenic rs587783017 GRCh37 Chromosome 12, 88449444: 88449444
29 TMEM237 NM_001044385.2(TMEM237): c.869+1G> A single nucleotide variant Likely pathogenic rs730882231 GRCh38 Chromosome 2, 201629229: 201629229
30 EVC2 NM_147127.4(EVC2) duplication Likely pathogenic rs730882232 GRCh38 Chromosome 4, 5562882: 5562905
31 EXOC4 NM_021807.3(EXOC4): c.1733A> G (p.Gln578Arg) single nucleotide variant Likely pathogenic rs730882233 GRCh38 Chromosome 7, 133817543: 133817543
32 MKS1 NM_017777.3(MKS1): c.1066C> T (p.Gln356Ter) single nucleotide variant Pathogenic/Likely pathogenic rs786205508 GRCh37 Chromosome 17, 56285903: 56285903
33 MKS1 NM_001165927.1(MKS1): c.995-2A> C single nucleotide variant Pathogenic rs794727070 GRCh37 Chromosome 17, 56285946: 56285946
34 MKS1 NM_017777.3(MKS1): c.844C> T (p.Arg282Ter) single nucleotide variant Pathogenic rs797045706 GRCh38 Chromosome 17, 58212996: 58212996
35 CC2D2A NM_001080522.2(CC2D2A): c.1558C> T (p.Arg520Ter) single nucleotide variant Pathogenic rs781252161 GRCh37 Chromosome 4, 15534907: 15534907
36 CEP290 NM_025114.3(CEP290): c.4966_4967delGA (p.Glu1656Asnfs) deletion Pathogenic rs756302731 GRCh37 Chromosome 12, 88476853: 88476854
37 TXNDC15 NM_024715.3(TXNDC15): c.103+1G> A single nucleotide variant Likely pathogenic rs886039792 GRCh38 Chromosome 5, 134874531: 134874531
38 TXNDC15 NM_024715.3(TXNDC15): c.672_686delCAGTTTGGCCCCTCA (p.Ser225_His229del) deletion Likely pathogenic rs886039791 GRCh38 Chromosome 5, 134893572: 134893586
39 TMEM138 NM_016464.4(TMEM138): c.134A> G (p.Gln45Arg) single nucleotide variant Likely pathogenic rs886039804 GRCh38 Chromosome 11, 61366050: 61366050
40 CEP290 NM_025114.3(CEP290): c.673_674delTT (p.Leu225Asnfs) deletion Pathogenic rs886039805 GRCh37 Chromosome 12, 88523649: 88523650
41 KIAA0586 NM_001244189.1(KIAA0586): c.2566T> G (p.Ser856Ala) single nucleotide variant Likely pathogenic rs886039806 GRCh38 Chromosome 14, 58467887: 58467887
42 MKS1 NM_017777.3(MKS1): c.261+2T> A single nucleotide variant Pathogenic rs886039803 GRCh38 Chromosome 17, 58216664: 58216664
43 EXOC3L2 NM_138568.3(EXOC3L2): c.398dupC (p.Leu134Thrfs) duplication Likely pathogenic rs886039793 GRCh37 Chromosome 19, 45730926: 45730926
44 CEP290 NM_025114.3(CEP290): c.4437+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs760915898 GRCh37 Chromosome 12, 88479815: 88479815
45 MKS1 NM_017777.3(MKS1): c.1394delC (p.Pro465Glnfs) deletion Likely pathogenic rs865870355 GRCh37 Chromosome 17, 56284459: 56284459
46 MKS1 NM_017777.3(MKS1): c.367dupC (p.Arg123Profs) duplication Likely pathogenic rs775043799 GRCh38 Chromosome 17, 58216138: 58216138
47 CC2D2A NC_000004.12: g.(?_15478723)_(15480827_?)del deletion Pathogenic GRCh37 Chromosome 4, 15480347: 15482451
48 CC2D2A NM_001080522.2(CC2D2A): c.1267C> T (p.Arg423Ter) single nucleotide variant Pathogenic rs757208121 GRCh38 Chromosome 4, 15527564: 15527564
49 TMEM67 NM_153704.5(TMEM67): c.2314_2322+4delinsGG indel Pathogenic GRCh38 Chromosome 8, 93803676: 93803688
50 RPGRIP1L NM_015272.4(RPGRIP1L): c.2794_2795delTT (p.Leu932Argfs) deletion Pathogenic rs778824093 GRCh38 Chromosome 16, 53641364: 53641365

Copy number variations for Meckel Syndrome 1 from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 33748 1 47600000 59900000 Copy number Meckel-Gruber syndrome

Expression for Meckel Syndrome 1

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

Pathways for Meckel Syndrome 1

GO Terms for Meckel Syndrome 1

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

(show all 12)
id Name GO ID Score Top Affiliating Genes
1 centrosome GO:0005813 9.97 B9D1 B9D2 CEP290 CSPP1 LRRCC1 MKS1
2 cilium GO:0005929 9.93 ARL13B B9D2 CC2D2A CEP290 MKS1 NPHP1
3 ciliary basal body GO:0036064 9.83 B9D1 B9D2 CEP290 MKS1 RPGRIP1L
4 microtubule organizing center GO:0005815 9.81 CEP290 CSPP1 MKS1 RPGRIP1L
5 axoneme GO:0005930 9.78 ARL13B RPGRIP1 RPGRIP1L WDPCP
6 ciliary membrane GO:0060170 9.76 ARL13B TCTN2 TMEM231 TMEM67
7 photoreceptor connecting cilium GO:0032391 9.71 CEP290 NPHP1 RPGRIP1 RPGRIP1L
8 centriole GO:0005814 9.67 CEP290 LRRCC1 MKS1
9 ciliary transition zone GO:0035869 9.65 B9D1 B9D2 CC2D2A CEP290 MKS1 RPGRIP1L
10 MKS complex GO:0036038 9.32 B9D1 B9D2 CC2D2A CEP290 MKS1 TCTN1
11 cytoskeleton GO:0005856 10.17 B9D1 B9D2 CC2D2A CEP290 CSPP1 LRRCC1
12 cell projection GO:0042995 10.13 ARL13B B9D1 B9D2 CC2D2A CEP290 MKS1

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

(show all 16)
id Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 9.97 ARL13B B9D1 B9D2 CC2D2A CEP290 MKS1
2 smoothened signaling pathway GO:0007224 9.73 ARL13B B9D1 CC2D2A TCTN2 TMEM231 WDPCP
3 cell projection organization GO:0030030 9.73 B9D1 B9D2 CC2D2A CEP290 MKS1 NPHP1
4 determination of left/right symmetry GO:0007368 9.71 ARL13B CC2D2A MKS1 RPGRIP1L
5 embryonic digit morphogenesis GO:0042733 9.67 B9D1 MKS1 WDPCP
6 camera-type eye development GO:0043010 9.67 B9D1 CC2D2A RPGRIP1L WDPCP
7 non-motile cilium assembly GO:1905515 9.62 ARL13B CC2D2A MKS1 RPGRIP1L
8 regulation of smoothened signaling pathway GO:0008589 9.61 MKS1 RPGRIP1L TCTN1
9 telencephalon development GO:0021537 9.56 RPGRIP1L TCTN1
10 motile cilium assembly GO:0044458 9.55 CC2D2A MKS1
11 eye photoreceptor cell development GO:0042462 9.54 CEP290 RPGRIP1
12 head development GO:0060322 9.52 MKS1 RPGRIP1L
13 embryonic brain development GO:1990403 9.51 CC2D2A MKS1
14 neural tube patterning GO:0021532 9.48 ARL13B RPGRIP1L
15 protein localization to ciliary transition zone GO:1904491 9.46 CC2D2A TCTN1
16 ciliary basal body docking GO:0097711 9.36 B9D1 B9D2 CC2D2A CEP290 MKS1 NPHP1

Sources for Meckel Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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