MCID: MCK032
MIFTS: 26

Meckel Syndrome, Type 3

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

Aliases & Classifications for Meckel Syndrome, Type 3

MalaCards integrated aliases for Meckel Syndrome, Type 3:

Name: Meckel Syndrome, Type 3 57 40
Meckel Syndrome Type 3 53 29 6 73
Meckel Syndrome 3 57 12 75 13
Mks3 57 12 53 75
Meckel-Gruber Syndrome, Type 3 57 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
lethal in utero or in the perinatal period


HPO:

32
meckel syndrome, type 3:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Meckel Syndrome, Type 3

OMIM : 57 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 type 3, is related to meckel syndrome, type 1 and joubert syndrome 1. An important gene associated with Meckel Syndrome, Type 3 is TMEM67 (Transmembrane Protein 67). Affiliated tissues include kidney, and related phenotypes are multicystic kidney dysplasia and cleft palate

UniProtKB/Swiss-Prot : 75 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.

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

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:

# Related Disease Score Top Affiliating Genes
1 meckel syndrome, type 1 10.2
2 joubert syndrome 1 10.0
3 coach syndrome 9.9
4 hepatitis 9.9
5 congenital hepatic fibrosis 9.9

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Mouth:
cleft palate (in some patients)

Genitourinary Kidneys:
cystic dysplasia

Skeletal Feet:
polydactyly, postaxial

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

Skeletal Hands:
polydactyly, postaxial

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


Clinical features from OMIM:

607361

Human phenotypes related to Meckel Syndrome, Type 3:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 multicystic kidney dysplasia 32 HP:0000003
2 cleft palate 32 occasional (7.5%) HP:0000175
3 hydrocephalus 32 occasional (7.5%) HP:0000238
4 postaxial hand polydactyly 32 HP:0001162
5 dandy-walker malformation 32 occasional (7.5%) HP:0001305
6 hepatic fibrosis 32 HP:0001395
7 bile duct proliferation 32 HP:0001408
8 encephalocele 32 HP:0002084

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:

41
Kidney

Publications for Meckel Syndrome, Type 3

Articles related to Meckel Syndrome, Type 3:

# Title Authors Year
1
A mouse model for Meckel syndrome type 3. ( 19211713 )
2009

Variations for Meckel Syndrome, Type 3

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

75 (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

ClinVar genetic disease variations for Meckel Syndrome, Type 3:

6
(show top 50) (show all 64)
# Gene Variation Type Significance SNP ID Assembly Location
1 TMEM67 NM_153704.5(TMEM67): c.648delA (p.Val217Leufs) deletion Pathogenic/Likely pathogenic rs386834204 GRCh37 Chromosome 8, 94777871: 94777871
2 TMEM67 NM_153704.5(TMEM67): c.648delA (p.Val217Leufs) deletion Pathogenic/Likely pathogenic rs386834204 GRCh38 Chromosome 8, 93765643: 93765643
3 TMEM67 NM_153704.5(TMEM67): c.870-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs386834207 GRCh37 Chromosome 8, 94793100: 94793100
4 TMEM67 NM_153704.5(TMEM67): c.383_384delAC (p.His128Leufs) deletion Pathogenic/Likely pathogenic rs386834200 GRCh37 Chromosome 8, 94770781: 94770782
5 TMEM67 NM_153704.5(TMEM67): c.383_384delAC (p.His128Leufs) deletion Pathogenic/Likely pathogenic rs386834200 GRCh38 Chromosome 8, 93758553: 93758554
6 TMEM67 NM_153704.5(TMEM67): c.870-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs386834207 GRCh38 Chromosome 8, 93780872: 93780872
7 TMEM67 NM_001142301.1(TMEM67): c.884A> C (p.Gln295Pro) single nucleotide variant Pathogenic rs137853106 GRCh37 Chromosome 8, 94794684: 94794684
8 TMEM67 NM_001142301.1(TMEM67): c.884A> C (p.Gln295Pro) single nucleotide variant Pathogenic rs137853106 GRCh38 Chromosome 8, 93782456: 93782456
9 TMEM67 NM_153704.5(TMEM67): c.1575+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs386834187 GRCh37 Chromosome 8, 94803548: 94803548
10 TMEM67 NM_153704.5(TMEM67): c.1575+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs386834187 GRCh38 Chromosome 8, 93791320: 93791320
11 TMEM67 NM_153704.5(TMEM67): c.651+2T> G single nucleotide variant Pathogenic/Likely pathogenic rs199821258 GRCh37 Chromosome 8, 94777876: 94777876
12 TMEM67 NM_153704.5(TMEM67): c.651+2T> G single nucleotide variant Pathogenic/Likely pathogenic rs199821258 GRCh38 Chromosome 8, 93765648: 93765648
13 TMEM67 NM_153704.5(TMEM67): c.622A> T (p.Arg208Ter) single nucleotide variant Pathogenic rs137853108 GRCh37 Chromosome 8, 94777845: 94777845
14 TMEM67 NM_153704.5(TMEM67): c.622A> T (p.Arg208Ter) single nucleotide variant Pathogenic rs137853108 GRCh38 Chromosome 8, 93765617: 93765617
15 TMEM67 NM_153704.5(TMEM67): c.2754_2756delCTT (p.Phe919del) deletion Pathogenic rs786205126 GRCh38 Chromosome 8, 93809877: 93809879
16 TMEM67 NM_153704.5(TMEM67): c.2754_2756delCTT (p.Phe919del) deletion Pathogenic rs786205126 GRCh37 Chromosome 8, 94822105: 94822107
17 TMEM67 NM_153704.5(TMEM67): c.1046T> C (p.Leu349Ser) single nucleotide variant Pathogenic/Likely pathogenic rs386834180 GRCh37 Chromosome 8, 94793953: 94793953
18 TMEM67 NM_153704.5(TMEM67): c.1046T> C (p.Leu349Ser) single nucleotide variant Pathogenic/Likely pathogenic rs386834180 GRCh38 Chromosome 8, 93781725: 93781725
19 TMEM67 NM_153704.5(TMEM67): c.1065+1delG deletion Likely pathogenic rs386834181 GRCh37 Chromosome 8, 94793973: 94793973
20 TMEM67 NM_153704.5(TMEM67): c.1065+1delG deletion Likely pathogenic rs386834181 GRCh38 Chromosome 8, 93781745: 93781745
21 TMEM67 NM_153704.5(TMEM67): c.1319G> A (p.Arg440Gln) single nucleotide variant Likely pathogenic rs386834182 GRCh37 Chromosome 8, 94798481: 94798481
22 TMEM67 NM_153704.5(TMEM67): c.1319G> A (p.Arg440Gln) single nucleotide variant Likely pathogenic rs386834182 GRCh38 Chromosome 8, 93786253: 93786253
23 TMEM67 NM_153704.5(TMEM67): c.1322G> T (p.Arg441Leu) single nucleotide variant Likely pathogenic rs386834183 GRCh37 Chromosome 8, 94798484: 94798484
24 TMEM67 NM_153704.5(TMEM67): c.1322G> T (p.Arg441Leu) single nucleotide variant Likely pathogenic rs386834183 GRCh38 Chromosome 8, 93786256: 93786256
25 TMEM67 NM_153704.5(TMEM67): c.1336G> C (p.Asp446His) single nucleotide variant Likely pathogenic rs386834184 GRCh37 Chromosome 8, 94798498: 94798498
26 TMEM67 NM_153704.5(TMEM67): c.1336G> C (p.Asp446His) single nucleotide variant Likely pathogenic rs386834184 GRCh38 Chromosome 8, 93786270: 93786270
27 TMEM67 NM_153704.5(TMEM67): c.1413-1G> C single nucleotide variant Likely pathogenic rs386834185 GRCh37 Chromosome 8, 94800071: 94800071
28 TMEM67 NM_153704.5(TMEM67): c.1413-1G> C single nucleotide variant Likely pathogenic rs386834185 GRCh38 Chromosome 8, 93787843: 93787843
29 TMEM67 NM_153704.5(TMEM67): c.1538_1539delAT (p.Tyr513Terfs) deletion Likely pathogenic rs386834186 GRCh37 Chromosome 8, 94803510: 94803511
30 TMEM67 NM_153704.5(TMEM67): c.1538_1539delAT (p.Tyr513Terfs) deletion Likely pathogenic rs386834186 GRCh38 Chromosome 8, 93791282: 93791283
31 TMEM67 NM_153704.5(TMEM67): c.161A> G (p.Tyr54Cys) single nucleotide variant Likely pathogenic rs386834188 GRCh37 Chromosome 8, 94767303: 94767303
32 TMEM67 NM_153704.5(TMEM67): c.161A> G (p.Tyr54Cys) single nucleotide variant Likely pathogenic rs386834188 GRCh38 Chromosome 8, 93755075: 93755075
33 TMEM67 NM_153704.5(TMEM67): c.2002T> C (p.Trp668Arg) single nucleotide variant Likely pathogenic rs386834189 GRCh37 Chromosome 8, 94809600: 94809600
34 TMEM67 NM_153704.5(TMEM67): c.2002T> C (p.Trp668Arg) single nucleotide variant Likely pathogenic rs386834189 GRCh38 Chromosome 8, 93797372: 93797372
35 TMEM67 NM_153704.5(TMEM67): c.224-2delA deletion Likely pathogenic rs386834190 GRCh37 Chromosome 8, 94768004: 94768004
36 TMEM67 NM_153704.5(TMEM67): c.224-2delA deletion Likely pathogenic rs386834190 GRCh38 Chromosome 8, 93755776: 93755776
37 TMEM67 NM_153704.5(TMEM67): c.2301delT (p.Asp768Ilefs) deletion Likely pathogenic rs386834191 GRCh37 Chromosome 8, 94815891: 94815891
38 TMEM67 NM_153704.5(TMEM67): c.2301delT (p.Asp768Ilefs) deletion Likely pathogenic rs386834191 GRCh38 Chromosome 8, 93803663: 93803663
39 TMEM67 NM_153704.5(TMEM67): c.2528A> G (p.Tyr843Cys) single nucleotide variant Likely pathogenic rs386834194 GRCh37 Chromosome 8, 94821156: 94821156
40 TMEM67 NM_153704.5(TMEM67): c.2528A> G (p.Tyr843Cys) single nucleotide variant Likely pathogenic rs386834194 GRCh38 Chromosome 8, 93808928: 93808928
41 TMEM67 NM_153704.5(TMEM67): c.2542G> T (p.Glu848Ter) single nucleotide variant Likely pathogenic rs386834195 GRCh37 Chromosome 8, 94821170: 94821170
42 TMEM67 NM_153704.5(TMEM67): c.2542G> T (p.Glu848Ter) single nucleotide variant Likely pathogenic rs386834195 GRCh38 Chromosome 8, 93808942: 93808942
43 TMEM67 NM_153704.5(TMEM67): c.2557A> T (p.Lys853Ter) single nucleotide variant Likely pathogenic rs386834196 GRCh37 Chromosome 8, 94821285: 94821285
44 TMEM67 NM_153704.5(TMEM67): c.2557A> T (p.Lys853Ter) single nucleotide variant Likely pathogenic rs386834196 GRCh38 Chromosome 8, 93809057: 93809057
45 TMEM67 NM_153704.5(TMEM67): c.2561dupA (p.Asn854Lysfs) duplication Likely pathogenic rs386834197 GRCh37 Chromosome 8, 94821289: 94821289
46 TMEM67 NM_153704.5(TMEM67): c.2561dupA (p.Asn854Lysfs) duplication Likely pathogenic rs386834197 GRCh38 Chromosome 8, 93809061: 93809061
47 TMEM67 NM_153704.5(TMEM67): c.2689_2690insTA (p.Lys897Ilefs) insertion Likely pathogenic rs386834198 GRCh37 Chromosome 8, 94822040: 94822041
48 TMEM67 NM_153704.5(TMEM67): c.2689_2690insTA (p.Lys897Ilefs) insertion Likely pathogenic rs386834198 GRCh38 Chromosome 8, 93809812: 93809813
49 TMEM67 NM_153704.5(TMEM67): c.2897T> C (p.Leu966Pro) single nucleotide variant Likely pathogenic rs386834199 GRCh37 Chromosome 8, 94827665: 94827665
50 TMEM67 NM_153704.5(TMEM67): c.2897T> C (p.Leu966Pro) single nucleotide variant Likely pathogenic rs386834199 GRCh38 Chromosome 8, 93815437: 93815437

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

Sources for Meckel Syndrome, Type 3

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