MKS3
MCID: MCK032
MIFTS: 50

Meckel Syndrome, Type 3 (MKS3)

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 3

MalaCards integrated aliases for Meckel Syndrome, Type 3:

Name: Meckel Syndrome, Type 3 56 29 6 39
Meckel Syndrome 3 56 12 73 13 15
Mks3 56 12 52 73
Meckel-Gruber Syndrome, Type 3 56 12
Meckel Syndrome Type 3 52 71

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
lethal in utero or in the perinatal period


HPO:

31
meckel syndrome, type 3:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070117
OMIM 56 607361
OMIM Phenotypic Series 56 PS249000
ICD10 32 Q61.9
MedGen 41 C1846357
UMLS 71 C1846357

Summaries for Meckel Syndrome, Type 3

OMIM : 56 Meckel syndrome is an autosomal recessive pre- or perinatal lethal malformation syndrome characterized by renal cystic dysplasia and variably associated features including developmental anomalies of the central nervous system (typically occipital encephalocele), hepatic ductal dysplasia and cysts, and postaxial polydactyly (summary by Smith et al., 2006). For a more complete phenotypic description and information on genetic heterogeneity of Meckel syndrome, see MKS1 (249000). (607361)

MalaCards based summary : Meckel Syndrome, Type 3, also known as meckel syndrome 3, is related to congenital hepatic fibrosis and ciliopathy. An important gene associated with Meckel Syndrome, Type 3 is TMEM67 (Transmembrane Protein 67), 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 hydrocephalus and cleft palate

Disease Ontology : 12 A Meckel syndrome that has material basis in an autosomal recessive mutation of TMEM67 on chromosome 8q22.1.

UniProtKB/Swiss-Prot : 73 Meckel syndrome 3: 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.

Related Diseases for Meckel Syndrome, Type 3

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 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 121)
# Related Disease Score Top Affiliating Genes
1 congenital hepatic fibrosis 30.3 TMEM67 RPGRIP1L CC2D2A AHI1
2 ciliopathy 30.3 TMEM67 TMEM231 RPGRIP1L NPHP4
3 joubert syndrome 15 30.0 TMEM237 RPGRIP1L NPHP4 NPHP1
4 joubert syndrome 6 29.9 TMEM67 TMEM216 RPGRIP1L NPHP1 MKS1 CEP290
5 encephalocele 29.8 TMEM67 MKS1 CEP290 CC2D2A B9D2 B9D1
6 juvenile nephronophthisis 29.6 NPHP4 NPHP3 NPHP1 INVS
7 nephronophthisis 1 28.9 NPHP4 NPHP3 NPHP1 INVS B9D2 B9D1
8 polycystic kidney disease 28.8 TMEM67 OFD1 NPHP3 INVS IFT88
9 meckel syndrome, type 4 27.3 TMEM67 TMEM237 TMEM231 TMEM216 TCTN2 RPGRIP1L
10 coach syndrome 25.9 TMEM67 TMEM237 TMEM231 TMEM216 TCTN2 TCTN1
11 coloboma of macula 25.7 TMEM67 TMEM237 TMEM231 TMEM216 TCTN2 TCTN1
12 nephronophthisis 25.1 TMEM67 TMEM237 TMEM231 TMEM216 TCTN2 TCTN1
13 bardet-biedl syndrome 24.9 TMEM67 TMEM231 TMEM216 TCTN2 TCTN1 RPGRIP1L
14 fundus dystrophy 24.5 TMEM67 TMEM237 TMEM231 TMEM216 TCTN2 TCTN1
15 joubert syndrome 1 24.5 TMEM67 TMEM237 TMEM231 TMEM216 TCTN2 TCTN1
16 meckel syndrome, type 1 24.4 TMEM67 TMEM237 TMEM231 TMEM216 TCTN2 TCTN1
17 leber congenital amaurosis 6 10.4 MKS1 CEP290
18 bardet-biedl syndrome 13 10.3 MKS1 CEP290
19 cone-rod dystrophy 13 10.3 RPGRIP1L NPHP4
20 renal dysplasia, cystic 10.3 NPHP3 CEP290
21 bardet-biedl syndrome 11 10.3 MKS1 CEP290
22 cerebellar hypoplasia 10.3 TMEM67 RPGRIP1L CC2D2A
23 retinal aplasia 10.3 NPHP4 NPHP1 CEP290
24 leber congenital amaurosis 3 10.2 NPHP4 CEP290
25 oculomotor apraxia 10.2 NPHP1 ARL13B AHI1
26 bardet-biedl syndrome 1 10.2 TMEM216 NPHP1 IFT88
27 pathologic nystagmus 10.2 TMEM67 MKS1 CEP290 AHI1
28 meningoencephalocele 10.2
29 hypotonia 10.2
30 multicystic dysplastic kidney 10.2
31 orofaciodigital syndrome iv 10.1 TMEM216 OFD1
32 cogan syndrome 10.1 NPHP4 NPHP1 CEP290 AHI1
33 bardet-biedl syndrome 8 10.1 MKS1 IFT88 CEP290
34 bardet-biedl syndrome 3 10.1 MKS1 IFT88 CEP290
35 orofaciodigital syndrome iii 10.1 TMEM231 OFD1
36 alstrom syndrome 10.1 RPGRIP1L NPHP3 NPHP1 CEP290
37 nephronophthisis 4 10.0 NPHP4 NPHP1
38 pulmonary fibrosis, idiopathic 10.0
39 neural tube defects 10.0
40 ataxia and polyneuropathy, adult-onset 10.0
41 rhyns syndrome 10.0
42 patau syndrome 10.0
43 interstitial lung disease 10.0
44 pulmonary fibrosis 10.0
45 liver disease 10.0
46 situs inversus 10.0
47 lung disease 10.0
48 chromosomal triplication 10.0
49 inherited retinal disorder 10.0
50 central nervous system malformation 10.0

Graphical network of the top 20 diseases related to Meckel Syndrome, Type 3:



Diseases related to Meckel Syndrome, Type 3

Symptoms & Phenotypes for Meckel Syndrome, Type 3

Human phenotypes related to Meckel Syndrome, Type 3:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 hydrocephalus 31 occasional (7.5%) HP:0000238
2 cleft palate 31 occasional (7.5%) HP:0000175
3 dandy-walker malformation 31 occasional (7.5%) HP:0001305
4 hepatic fibrosis 31 HP:0001395
5 multicystic kidney dysplasia 31 HP:0000003
6 postaxial hand polydactyly 31 HP:0001162
7 encephalocele 31 HP:0002084
8 bile duct proliferation 31 HP:0001408

Symptoms via clinical synopsis from OMIM:

56
Abdomen Liver:
hepatic fibrosis
bile duct proliferation
ductal plate malformation
hepatic developmental defects

Skeletal Hands:
polydactyly, postaxial

Neurologic Central Nervous System:
dandy-walker malformation (in some patients)
hydrocephalus (in some patients)
encephalocele, occipital

Head And Neck Mouth:
cleft palate (in some patients)

Skeletal Feet:
polydactyly, postaxial

Genitourinary Kidneys:
cystic dysplasia

Clinical features from OMIM:

607361

MGI Mouse Phenotypes related to Meckel Syndrome, Type 3:

45 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.44 AHI1 ARL13B B9D1 B9D2 CC2D2A CEP290
2 cardiovascular system MP:0005385 10.4 B9D1 B9D2 CC2D2A CEP290 IFT88 INVS
3 embryo MP:0005380 10.3 ARL13B B9D1 B9D2 CC2D2A IFT88 INVS
4 growth/size/body region MP:0005378 10.28 AHI1 ARL13B B9D1 B9D2 CC2D2A CEP290
5 craniofacial MP:0005382 10.24 B9D1 B9D2 CC2D2A CEP290 IFT88 MKS1
6 mortality/aging MP:0010768 10.22 AHI1 ARL13B B9D1 B9D2 CC2D2A CEP290
7 nervous system MP:0003631 10.21 AHI1 ARL13B B9D1 B9D2 CC2D2A CEP290
8 digestive/alimentary MP:0005381 10.18 B9D1 B9D2 CC2D2A IFT88 INVS MKS1
9 limbs/digits/tail MP:0005371 10.14 B9D1 B9D2 CC2D2A IFT88 MKS1 OFD1
10 renal/urinary system MP:0005367 10.03 AHI1 ARL13B B9D1 B9D2 CC2D2A CEP290
11 liver/biliary system MP:0005370 9.97 B9D1 B9D2 CEP290 IFT88 INVS MKS1
12 respiratory system MP:0005388 9.61 ARL13B B9D2 CC2D2A CEP290 IFT88 INVS
13 vision/eye MP:0005391 9.44 AHI1 ARL13B B9D1 B9D2 CC2D2A CEP290

Drugs & Therapeutics for Meckel Syndrome, Type 3

Search Clinical Trials , NIH Clinical Center for Meckel Syndrome, Type 3

Genetic Tests for Meckel Syndrome, Type 3

Genetic tests related to Meckel Syndrome, Type 3:

# Genetic test Affiliating Genes
1 Meckel Syndrome, Type 3 29 TMEM67

Anatomical Context for Meckel Syndrome, Type 3

MalaCards organs/tissues related to Meckel Syndrome, Type 3:

40
Kidney, Liver, Brain, Testes

Publications for Meckel Syndrome, Type 3

Articles related to Meckel Syndrome, Type 3:

(show top 50) (show all 53)
# Title Authors PMID Year
1
A meckelin-filamin A interaction mediates ciliogenesis. 61 6 56
22121117 2012
2
Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3. 6 56 61
17377820 2007
3
The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat. 6 56 61
16415887 2006
4
Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). 6 61
19508969 2009
5
The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation. 6 61
17185389 2007
6
A novel locus for Meckel-Gruber syndrome, MKS3, maps to chromosome 8q24. 56 61
12384791 2002
7
Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome. 6
29891882 2018
8
Clinical utility gene card for: Meckel syndrome. 6
21368913 2011
9
A TCTN2 mutation defines a novel Meckel Gruber syndrome locus. 56
21462283 2011
10
New rat model that phenotypically resembles autosomal recessive polycystic kidney disease. 56
11095650 2000
11
Retinitis pigmentosa, hypopituitarism, nephronophthisis, and mild skeletal dysplasia (RHYNS): a new syndrome? 6
9375913 1997
12
Hydrocephalus in a rat model of Meckel Gruber syndrome with a TMEM67 mutation. 61
30705305 2019
13
Uniparental disomy as an unexpected cause of Meckel-Gruber syndrome: report of a case. 61
28620746 2017
14
Functional validation of novel MKS3/TMEM67 mutations in COACH syndrome. 61
28860541 2017
15
EXPANDED PHENOTYPE OF TMEM67 GENE MUTATION (CASE REPORT). 61
28726664 2017
16
Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy. 61
27491411 2016
17
Hepatorenal fibrocystic diseases in children. 61
26260382 2016
18
The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway. 61
26035863 2015
19
A missense mutation in TMEM67 causes Meckel-Gruber syndrome type 3 (MKS3): a family from China. 61
26191240 2015
20
Molar Tooth Sign with Deranged Liver Function Tests: An Indian Case with COACH Syndrome. 61
26075130 2015
21
Reduction of meckelin leads to general loss of cilia, ciliary microtubule misalignment and distorted cell surface organization. 61
24484742 2014
22
The Meckel syndrome protein meckelin (TMEM67) is a key regulator of cilia function but is not required for tissue planar polarity. 61
23393159 2013
23
Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel-Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defects. 61
23283079 2013
24
Preimplantation genetic diagnosis for a Chinese family with autosomal recessive Meckel-Gruber syndrome type 3 (MKS3). 61
24039893 2013
25
Meckelin 3 is necessary for photoreceptor outer segment development in rat Meckel syndrome. 61
23516626 2013
26
Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies. 61
23351400 2012
27
[Joubert syndrome and related disorders]. 61
23023437 2012
28
Differentiating Alström from Bardet-Biedl syndrome (BBS) using systematic ciliopathy genes sequencing. 61
22004009 2012
29
Meckelin is necessary for photoreceptor intraciliary transport and outer segment morphogenesis. 61
22247471 2012
30
Molecular genetics and pathogenic mechanisms for the severe ciliopathies: insights into neurodevelopment and pathogenesis of neural tube defects. 61
21110233 2011
31
Renal cystic disease proteins play critical roles in the organization of the olfactory epithelium. 61
21614130 2011
32
Differential expression of renal proteins in a rodent model of Meckel syndrome. 61
20693816 2011
33
Polycystic kidney and hepatic disease with mental retardation is nephronophthisis 11 caused by MKS3/TMEM67 mutations. 61
20607301 2010
34
Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). 61
19574260 2010
35
Shadow autozygosity mapping by linkage exclusion (SAMPLE): a simple strategy to identify the genetic basis of lethal autosomal recessive disorders. 61
19842213 2009
36
CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation. 61
19777577 2009
37
Meckel-Gruber syndrome protein MKS3 is required for endoplasmic reticulum-associated degradation of surfactant protein C. 61
19815549 2009
38
Clinical and molecular features of Joubert syndrome and related disorders. 61
19876931 2009
39
MKS3-related ciliopathy with features of autosomal recessive polycystic kidney disease, nephronophthisis, and Joubert Syndrome. 61
19540516 2009
40
Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3. 61
19515853 2009
41
Joubert syndrome: insights into brain development, cilium biology, and complex disease. 61
19778711 2009
42
A mouse model for Meckel syndrome type 3. 61
19211713 2009
43
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement. 61
19058225 2009
44
Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. 61
18327255 2008
45
DNA analysis of AHI1, NPHP1 and CYCLIN D1 in Joubert syndrome patients from the Netherlands. 61
18054307 2008
46
Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome. 61
17705300 2008
47
Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisis. 61
17960139 2007
48
Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. 61
17564974 2007
49
Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome. 61
17437276 2007
50
Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online. 61
17397051 2007

Variations for Meckel Syndrome, Type 3

ClinVar genetic disease variations for Meckel Syndrome, Type 3:

6 (show top 50) (show all 103) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TMEM67 NM_153704.6(TMEM67):c.1127A>C (p.Gln376Pro)SNV Pathogenic 1369 rs137853106 8:94794684-94794684 8:93782456-93782456
2 TMEM67 NM_153704.6(TMEM67):c.622A>T (p.Arg208Ter)SNV Pathogenic 1376 rs137853108 8:94777845-94777845 8:93765617-93765617
3 TMEM67 NM_153704.6(TMEM67):c.2754_2756del (p.Phe919del)deletion Pathogenic 55931 rs786205126 8:94822104-94822106 8:93809876-93809878
4 TMEM67 NM_001142301.1(TMEM67):c.1170-1G>CSNV Pathogenic 56767 rs386834185 8:94800071-94800071 8:93787843-93787843
5 TMEM67 NM_153704.6(TMEM67):c.579del (p.Gly195fs)deletion Pathogenic 56784 rs386834203 8:94777802-94777802 8:93765574-93765574
6 TMEM67 NM_153704.6(TMEM67):c.675G>A (p.Trp225Ter)SNV Pathogenic 56787 rs386834205 8:94784840-94784840 8:93772612-93772612
7 TMEM67 NM_153704.6(TMEM67):c.1115C>A (p.Thr372Lys)SNV Pathogenic/Likely pathogenic 217726 rs863225235 8:94794672-94794672 8:93782444-93782444
8 TMEM67 NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys)SNV Pathogenic/Likely pathogenic 217725 rs752362727 8:94798483-94798483 8:93786255-93786255
9 TMEM67 NM_153704.6(TMEM67):c.2498T>C (p.Ile833Thr)SNV Pathogenic/Likely pathogenic 1378 rs267607119 8:94821126-94821126 8:93808898-93808898
10 TMEM67 NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg)SNV Pathogenic/Likely pathogenic 1383 rs201893408 8:94808198-94808198 8:93795970-93795970
11 TMEM67 NM_153704.6(TMEM67):c.579_580del (p.Gly195fs)deletion Pathogenic/Likely pathogenic 56783 rs386834202 8:94777802-94777803 8:93765574-93765575
12 TMEM67 NM_153704.6(TMEM67):c.1046T>C (p.Leu349Ser)SNV Pathogenic/Likely pathogenic 56762 rs386834180 8:94793953-94793953 8:93781725-93781725
13 TMEM67 NM_153704.6(TMEM67):c.648del (p.Val217fs)deletion Pathogenic/Likely pathogenic 1366 rs386834204 8:94777870-94777870 8:93765642-93765642
14 TMEM67 NM_001142301.1(TMEM67):c.627-2A>GSNV Pathogenic/Likely pathogenic 1367 rs386834207 8:94793100-94793100 8:93780872-93780872
15 TMEM67 NM_153704.6(TMEM67):c.383_384del (p.His128fs)deletion Pathogenic/Likely pathogenic 1365 rs386834200 8:94770780-94770781 8:93758552-93758553
16 TMEM67 NM_001142301.1(TMEM67):c.1332+1G>ASNV Pathogenic/Likely pathogenic 1370 rs386834187 8:94803548-94803548 8:93791320-93791320
17 TMEM67 NM_001142301.1(TMEM67):c.408+2T>GSNV Pathogenic/Likely pathogenic 1373 rs199821258 8:94777876-94777876 8:93765648-93765648
18 TMEM67 NM_153704.6(TMEM67):c.1065+1deldeletion Likely pathogenic 56763 rs386834181 8:94793972-94793972 8:93781744-93781744
19 TMEM67 NM_153704.6(TMEM67):c.2357G>C (p.Gly786Ala)SNV Likely pathogenic 684615 8:94817024-94817024 8:93804796-93804796
20 TMEM67 NM_153704.6(TMEM67):c.1336G>C (p.Asp446His)SNV Likely pathogenic 56766 rs386834184 8:94798498-94798498 8:93786270-93786270
21 TMEM67 NM_153704.6(TMEM67):c.2528A>G (p.Tyr843Cys)SNV Likely pathogenic 56775 rs386834194 8:94821156-94821156 8:93808928-93808928
22 TMEM67 NM_153704.6(TMEM67):c.2542G>T (p.Glu848Ter)SNV Likely pathogenic 56776 rs386834195 8:94821170-94821170 8:93808942-93808942
23 TMEM67 NM_153704.6(TMEM67):c.2557A>T (p.Lys853Ter)SNV Likely pathogenic 56777 rs386834196 8:94821285-94821285 8:93809057-93809057
24 TMEM67 NM_153704.6(TMEM67):c.2561dup (p.Asn854fs)duplication Likely pathogenic 56778 rs386834197 8:94821284-94821285 8:93809056-93809057
25 TMEM67 NM_153704.6(TMEM67):c.2689_2690insTA (p.Lys897fs)insertion Likely pathogenic 56779 rs386834198 8:94822039-94822040 8:93809811-93809812
26 TMEM67 NM_153704.6(TMEM67):c.2897T>C (p.Leu966Pro)SNV Likely pathogenic 56780 rs386834199 8:94827665-94827665 8:93815437-93815437
27 TMEM67 NM_153704.6(TMEM67):c.387T>A (p.Cys129Ter)SNV Likely pathogenic 56782 rs386834201 8:94770785-94770785 8:93758557-93758557
28 TMEM67 NM_153704.6(TMEM67):c.1536_1537AT[1] (p.Thr512_Tyr513insTer)short repeat Likely pathogenic 56768 rs386834186 8:94803508-94803509 8:93791280-93791281
29 TMEM67 NM_153704.6(TMEM67):c.161A>G (p.Tyr54Cys)SNV Likely pathogenic 56769 rs386834188 8:94767303-94767303 8:93755075-93755075
30 TMEM67 NM_153704.6(TMEM67):c.2002T>C (p.Trp668Arg)SNV Likely pathogenic 56770 rs386834189 8:94809600-94809600 8:93797372-93797372
31 TMEM67 NM_001142301.1(TMEM67):c.-62+639deldeletion Likely pathogenic 56771 rs386834190 8:94768004-94768004 8:93755776-93755776
32 TMEM67 NM_153704.6(TMEM67):c.2301del (p.Asp768fs)deletion Likely pathogenic 56772 rs386834191 8:94815890-94815890 8:93803662-93803662
33 TMEM67 NM_153704.6(TMEM67):c.734C>T (p.Ser245Phe)SNV Likely pathogenic 56788 rs386834206 8:94792840-94792840 8:93780612-93780612
34 TMEM67 NM_153704.6(TMEM67):c.888G>T (p.Trp296Cys)SNV Likely pathogenic 56789 rs386834208 8:94793120-94793120 8:93780892-93780892
35 TMEM67 NM_153704.6(TMEM67):c.1309C>G (p.Leu437Val)SNV Conflicting interpretations of pathogenicity 126299 rs35765535 8:94798471-94798471 8:93786243-93786243
36 TMEM67 NM_153704.6(TMEM67):c.2161C>T (p.Pro721Ser)SNV Conflicting interpretations of pathogenicity 126302 rs116445698 8:94811906-94811906 8:93799678-93799678
37 TMEM67 NM_153704.6(TMEM67):c.2086C>T (p.Leu696Phe)SNV Conflicting interpretations of pathogenicity 217729 rs863225238 8:94809684-94809684 8:93797456-93797456
38 TMEM67 NM_153704.6(TMEM67):c.2241G>A (p.Gln747=)SNV Conflicting interpretations of pathogenicity 242363 rs115563233 8:94811986-94811986 8:93799758-93799758
39 TMEM67 NM_153704.6(TMEM67):c.120T>C (p.Ser40=)SNV Conflicting interpretations of pathogenicity 262741 rs767999682 8:94767262-94767262 8:93755034-93755034
40 TMEM67 NM_001142301.1(TMEM67):c.626+9A>GSNV Conflicting interpretations of pathogenicity 262756 rs372597584 8:94792984-94792984 8:93780756-93780756
41 TMEM67 NM_153704.6(TMEM67):c.2448G>A (p.Leu816=)SNV Conflicting interpretations of pathogenicity 262745 rs886038738 8:94821076-94821076 8:93808848-93808848
42 TMEM67 NM_153704.6(TMEM67):c.2952A>G (p.Ala984=)SNV Conflicting interpretations of pathogenicity 262749 rs115967793 8:94828644-94828644 8:93816416-93816416
43 TMEM67 NM_001142301.1(TMEM67):c.2079+2dupduplication Conflicting interpretations of pathogenicity 56773 rs386834192 8:94815913-94815914 8:93803685-93803686
44 TMEM67 NM_153704.6(TMEM67):c.1319G>A (p.Arg440Gln)SNV Conflicting interpretations of pathogenicity 56764 rs386834182 8:94798481-94798481 8:93786253-93786253
45 TMEM67 NM_153704.6(TMEM67):c.958A>T (p.Ser320Cys)SNV Conflicting interpretations of pathogenicity 1377 rs111619594 8:94793190-94793190 8:93780962-93780962
46 TMEM67 NM_153704.6(TMEM67):c.369C>T (p.Ala123=)SNV Conflicting interpretations of pathogenicity 286625 rs115640152 8:94770767-94770767 8:93758539-93758539
47 TMEM67 NM_153704.6(TMEM67):c.2928T>C (p.Asn976=)SNV Conflicting interpretations of pathogenicity 363928 rs369812327 8:94828620-94828620 8:93816392-93816392
48 TMEM67 NM_153704.6(TMEM67):c.1446C>T (p.Asn482=)SNV Conflicting interpretations of pathogenicity 363920 rs774288177 8:94800105-94800105 8:93787877-93787877
49 TMEM67 NM_153704.6(TMEM67):c.186T>C (p.Cys62=)SNV Conflicting interpretations of pathogenicity 215970 rs115660279 8:94767328-94767328 8:93755100-93755100
50 TMEM67 NM_001142301.1(TMEM67):c.*1434T>CSNV Uncertain significance 363937 rs886063178 8:94830114-94830114 8:93817886-93817886

UniProtKB/Swiss-Prot genetic disease variations for Meckel Syndrome, Type 3:

73 (show all 11)
# Symbol AA change Variation ID SNP ID
1 TMEM67 p.Gln376Pro VAR_025474 rs137853106
2 TMEM67 p.Tyr513Cys VAR_031987 rs137853107
3 TMEM67 p.Met252Thr VAR_062313 rs202149403
4 TMEM67 p.Arg440Gln VAR_062318 rs386834182
5 TMEM67 p.Cys615Arg VAR_062319 rs201893408
6 TMEM67 p.Leu966Pro VAR_062320 rs386834199
7 TMEM67 p.Leu349Ser VAR_063790 rs386834180
8 TMEM67 p.Arg441Leu VAR_076874 rs386834183
9 TMEM67 p.Trp668Arg VAR_076877 rs386834189
10 TMEM67 p.Gly786Glu VAR_076879 rs386834193
11 TMEM67 p.Tyr843Cys VAR_076880 rs386834194

Expression for Meckel Syndrome, Type 3

Search GEO for disease gene expression data for Meckel Syndrome, Type 3.

Pathways for Meckel Syndrome, Type 3

GO Terms for Meckel Syndrome, Type 3

Cellular components related to Meckel Syndrome, Type 3 according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.43 TMEM67 TMEM216 TCTN2 TCTN1 RPGRIP1L OFD1
2 cytosol GO:0005829 10.36 TMEM216 TCTN1 RPGRIP1L OFD1 NPHP4 NPHP3
3 centrosome GO:0005813 10.1 TMEM67 RPGRIP1L OFD1 NPHP4 MKS1 IFT88
4 MKS complex GO:0036038 10.06 TMEM67 TMEM231 TMEM216 TCTN2 TCTN1 MKS1
5 cytoskeleton GO:0005856 10.06 TMEM67 TMEM216 TCTN2 TCTN1 RPGRIP1L OFD1
6 ciliary transition zone GO:0035869 10.03 TMEM67 TMEM237 TMEM231 TMEM216 TCTN1 RPGRIP1L
7 ciliary basal body GO:0036064 10.02 RPGRIP1L OFD1 NPHP4 MKS1 IFT88 CEP290
8 microtubule organizing center GO:0005815 9.99 RPGRIP1L OFD1 NPHP4 MKS1 IFT88 CEP290
9 cilium GO:0005929 9.89 TMEM67 TMEM237 TMEM231 TMEM216 RPGRIP1L OFD1
10 centriole GO:0005814 9.88 OFD1 MKS1 IFT88 CEP290 AHI1
11 cell-cell junction GO:0005911 9.86 RPGRIP1L NPHP4 NPHP1 AHI1
12 motile cilium GO:0031514 9.84 OFD1 NPHP1 IFT88 ARL13B
13 photoreceptor connecting cilium GO:0032391 9.83 TMEM237 RPGRIP1L NPHP4 NPHP1 CEP290
14 ciliary membrane GO:0060170 9.8 TMEM67 TMEM231 TCTN2 ARL13B
15 non-motile cilium GO:0097730 9.76 NPHP4 IFT88 ARL13B AHI1
16 bicellular tight junction GO:0005923 9.74 RPGRIP1L NPHP4 NPHP1
17 cell projection GO:0042995 9.62 TMEM67 TMEM237 TMEM231 TMEM216 TCTN2 TCTN1

Biological processes related to Meckel Syndrome, Type 3 according to GeneCards Suite gene sharing:

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 ciliary basal body-plasma membrane docking GO:0097711 10 TMEM67 TMEM216 TCTN2 TCTN1 RPGRIP1L OFD1
2 in utero embryonic development GO:0001701 9.87 TMEM231 TCTN1 RPGRIP1L B9D1
3 cell projection organization GO:0030030 9.83 TMEM67 TMEM237 TMEM231 TMEM216 TCTN2 TCTN1
4 determination of left/right symmetry GO:0007368 9.8 RPGRIP1L NPHP3 MKS1 CC2D2A ARL13B
5 kidney development GO:0001822 9.79 RPGRIP1L NPHP3 IFT88
6 smoothened signaling pathway GO:0007224 9.77 TMEM231 TCTN2 CC2D2A B9D1 ARL13B
7 camera-type eye development GO:0043010 9.73 TMEM231 RPGRIP1L CC2D2A B9D1
8 non-motile cilium assembly GO:1905515 9.73 TMEM216 RPGRIP1L MKS1 IFT88 CC2D2A ARL13B
9 heart looping GO:0001947 9.72 NPHP3 ARL13B AHI1
10 embryonic digit morphogenesis GO:0042733 9.7 TMEM231 MKS1 B9D1
11 inner ear receptor cell stereocilium organization GO:0060122 9.63 MKS1 IFT88
12 motile cilium assembly GO:0044458 9.63 MKS1 CC2D2A
13 regulation of smoothened signaling pathway GO:0008589 9.63 TCTN1 RPGRIP1L MKS1
14 axoneme assembly GO:0035082 9.62 OFD1 CC2D2A
15 hindbrain development GO:0030902 9.62 CEP290 AHI1
16 protein localization to ciliary transition zone GO:1904491 9.62 TCTN2 TCTN1 NPHP4 CC2D2A
17 head development GO:0060322 9.61 RPGRIP1L MKS1
18 embryonic brain development GO:1990403 9.6 MKS1 CC2D2A
19 left/right axis specification GO:0070986 9.59 ARL13B AHI1
20 photoreceptor cell outer segment organization GO:0035845 9.58 NPHP4 AHI1
21 epithelial cilium movement involved in determination of left/right asymmetry GO:0060287 9.58 OFD1 NPHP3
22 neuroepithelial cell differentiation GO:0060563 9.56 TMEM231 B9D1
23 cilium assembly GO:0060271 9.55 TMEM67 TMEM237 TMEM231 TMEM216 TCTN2 TCTN1
24 neural tube patterning GO:0021532 9.54 RPGRIP1L ARL13B
25 positive regulation of bicellular tight junction assembly GO:1903348 9.51 NPHP4 NPHP1
26 regulation of Wnt signaling pathway, planar cell polarity pathway GO:2000095 9.49 NPHP3 MKS1
27 visual behavior GO:0007632 9.48 NPHP4 NPHP1

Sources for Meckel Syndrome, Type 3

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