MKS2
MCID: MCK031
MIFTS: 39

Meckel Syndrome, Type 2 (MKS2)

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 2

MalaCards integrated aliases for Meckel Syndrome, Type 2:

Name: Meckel Syndrome, Type 2 57 40 73
Meckel Syndrome 2 57 12 75 13 15
Mks2 57 12 53 75
Meckel Syndrome Type 2 53 29 6
Meckel-Gruber Syndrome, Type 2 57 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
lethal in utero or perinatal lethal


HPO:

32
meckel syndrome, type 2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Meckel Syndrome, Type 2

OMIM : 57 Meckel syndrome is a rare autosomal recessive lethal condition characterized by an occipital meningoencephalocele, enlarged kidneys with multicystic dysplasia and fibrotic changes in the portal area of the liver and with ductal proliferation, and postaxial polydactyly. For a more complete phenotypic description and information on genetic heterogeneity, see MKS1 (249000). (603194)

MalaCards based summary : Meckel Syndrome, Type 2, also known as meckel syndrome 2, is related to joubert syndrome 6 and encephalocele. An important gene associated with Meckel Syndrome, Type 2 is TMEM216 (Transmembrane Protein 216), 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 bone, and related phenotypes are bowing of the long bones and cleft palate

Disease Ontology : 12 A Meckel syndrome that has material basis in an autosomal recessive mutation of TMEM216 on chromosome 11q12.2.

UniProtKB/Swiss-Prot : 75 Meckel syndrome 2: 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 2

Graphical network of the top 20 diseases related to Meckel Syndrome, Type 2:



Diseases related to Meckel Syndrome, Type 2

Symptoms & Phenotypes for Meckel Syndrome, Type 2

Symptoms via clinical synopsis from OMIM:

57
Skeletal Limbs:
bowing of the long bones

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

Abdomen Liver:
bile duct proliferation
ductal plate malformations

Skeletal Feet:
polydactyly, postaxial

Head And Neck Eyes:
microphthalmia (1 patient)

Growth Other:
intrauterine growth retardation

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

Skeletal Hands:
polydactyly, postaxial

Genitourinary Kidneys:
cystic dysplasia

Genitourinary External Genitalia Male:
hypoplastic genitalia (1 patient)


Clinical features from OMIM:

603194

Human phenotypes related to Meckel Syndrome, Type 2:

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 bowing of the long bones 32 HP:0006487
2 cleft palate 32 HP:0000175
3 intrauterine growth retardation 32 HP:0001511
4 microphthalmia 32 occasional (7.5%) HP:0000568
5 meningocele 32 HP:0002435
6 postaxial hand polydactyly 32 HP:0001162
7 dandy-walker malformation 32 occasional (7.5%) HP:0001305
8 encephalocele 32 HP:0002084
9 anencephaly 32 HP:0002323
10 renal cyst 32 HP:0000107
11 polydactyly 32 HP:0010442
12 bile duct proliferation 32 HP:0001408

MGI Mouse Phenotypes related to Meckel Syndrome, Type 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.67 B9D1 B9D2 MKS1 TMEM67
2 digestive/alimentary MP:0005381 9.62 B9D1 B9D2 MKS1 TMEM67
3 embryo MP:0005380 9.56 B9D1 B9D2 MKS1 TMEM67
4 limbs/digits/tail MP:0005371 9.46 B9D1 B9D2 MKS1 TMEM67
5 liver/biliary system MP:0005370 9.26 B9D1 B9D2 MKS1 TMEM67
6 renal/urinary system MP:0005367 8.92 B9D1 B9D2 MKS1 TMEM67

Drugs & Therapeutics for Meckel Syndrome, Type 2

Search Clinical Trials , NIH Clinical Center for Meckel Syndrome, Type 2

Genetic Tests for Meckel Syndrome, Type 2

Genetic tests related to Meckel Syndrome, Type 2:

# Genetic test Affiliating Genes
1 Meckel Syndrome Type 2 29 TMEM216

Anatomical Context for Meckel Syndrome, Type 2

MalaCards organs/tissues related to Meckel Syndrome, Type 2:

41
Kidney, Liver, Bone, Eye

Publications for Meckel Syndrome, Type 2

Variations for Meckel Syndrome, Type 2

UniProtKB/Swiss-Prot genetic disease variations for Meckel Syndrome, Type 2:

75
# Symbol AA change Variation ID SNP ID
1 TMEM216 p.Arg73His VAR_064029 rs201108965
2 TMEM216 p.Gly77Ala VAR_064030 rs386833830
3 TMEM216 p.Leu114Arg VAR_064031 rs386833831

ClinVar genetic disease variations for Meckel Syndrome, Type 2:

6 (show all 48)
# Gene Variation Type Significance SNP ID Assembly Location
1 TMEM216 NM_001173990.2(TMEM216): c.218G> T (p.Arg73Leu) single nucleotide variant Pathogenic rs201108965 GRCh37 Chromosome 11, 61161437: 61161437
2 TMEM216 NM_001173990.2(TMEM216): c.218G> T (p.Arg73Leu) single nucleotide variant Pathogenic rs201108965 GRCh38 Chromosome 11, 61393965: 61393965
3 TMEM216 NM_001173990.2(TMEM216): c.218G> A (p.Arg73His) single nucleotide variant Pathogenic rs201108965 GRCh37 Chromosome 11, 61161437: 61161437
4 TMEM216 NM_001173990.2(TMEM216): c.218G> A (p.Arg73His) single nucleotide variant Pathogenic rs201108965 GRCh38 Chromosome 11, 61393965: 61393965
5 TMEM216 NM_001173991.2(TMEM216): c.341T> G (p.Leu114Arg) single nucleotide variant Pathogenic/Likely pathogenic rs386833831 GRCh37 Chromosome 11, 61165357: 61165357
6 TMEM216 NM_001173991.2(TMEM216): c.341T> G (p.Leu114Arg) single nucleotide variant Pathogenic/Likely pathogenic rs386833831 GRCh38 Chromosome 11, 61397885: 61397885
7 TMEM216 NM_001173991.2(TMEM216): c.230G> C (p.Gly77Ala) single nucleotide variant Pathogenic/Likely pathogenic rs386833830 GRCh37 Chromosome 11, 61165246: 61165246
8 TMEM216 NM_001173991.2(TMEM216): c.230G> C (p.Gly77Ala) single nucleotide variant Pathogenic/Likely pathogenic rs386833830 GRCh38 Chromosome 11, 61397774: 61397774
9 TMEM216 NM_001173990.2(TMEM216): c.253C> T (p.Arg85Ter) single nucleotide variant Pathogenic/Likely pathogenic rs11230683 GRCh37 Chromosome 11, 61165269: 61165269
10 TMEM216 NM_001173990.2(TMEM216): c.253C> T (p.Arg85Ter) single nucleotide variant Pathogenic/Likely pathogenic rs11230683 GRCh38 Chromosome 11, 61397797: 61397797
11 TMEM216 NM_001173990.2(TMEM216): c.34+2T> C single nucleotide variant Likely pathogenic rs1057517498 GRCh37 Chromosome 11, 61160139: 61160139
12 TMEM216 NM_001173990.2(TMEM216): c.34+2T> C single nucleotide variant Likely pathogenic rs1057517498 GRCh38 Chromosome 11, 61392667: 61392667
13 TMEM216 NM_001173990.2(TMEM216): c.35-2A> G single nucleotide variant Likely pathogenic rs1057517528 GRCh38 Chromosome 11, 61393229: 61393229
14 TMEM216 NM_001173990.2(TMEM216): c.35-2A> G single nucleotide variant Likely pathogenic rs1057517528 GRCh37 Chromosome 11, 61160701: 61160701
15 TMEM216 NM_001173990.2(TMEM216): c.222delG (p.Phe76Leufs) deletion Likely pathogenic rs1057517512 GRCh37 Chromosome 11, 61161441: 61161441
16 TMEM216 NM_001173990.2(TMEM216): c.222delG (p.Phe76Leufs) deletion Likely pathogenic rs1057517512 GRCh38 Chromosome 11, 61393969: 61393969
17 TMEM216 NM_001173990.2(TMEM216): c.228delT (p.Phe76Leufs) deletion Likely pathogenic rs1057517516 GRCh37 Chromosome 11, 61161447: 61161447
18 TMEM216 NM_001173990.2(TMEM216): c.228delT (p.Phe76Leufs) deletion Likely pathogenic rs1057517516 GRCh38 Chromosome 11, 61393975: 61393975
19 TMEM216 NM_001173990.2(TMEM216): c.228dupT (p.Gly77Trpfs) duplication Likely pathogenic rs1057517475 GRCh38 Chromosome 11, 61393975: 61393975
20 TMEM216 NM_001173990.2(TMEM216): c.228dupT (p.Gly77Trpfs) duplication Likely pathogenic rs1057517475 GRCh37 Chromosome 11, 61161447: 61161447
21 TMEM216 NM_001173990.2(TMEM216): c.1A> G (p.Met1Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 61160104: 61160104
22 TMEM216 NM_001173990.2(TMEM216): c.1A> G (p.Met1Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 61392632: 61392632
23 TMEM216 NM_001173990.2(TMEM216): c.432-10delGinsAC indel Uncertain significance GRCh37 Chromosome 11, 61165731: 61165732
24 TMEM216 NM_001173990.2(TMEM216): c.432-10delGinsAC indel Uncertain significance GRCh38 Chromosome 11, 61398260: 61398260
25 TMEM216 NM_001173990.2(TMEM216): c.316_317insTA (p.Tyr106Leufs) insertion Likely pathogenic GRCh37 Chromosome 11, 61165332: 61165332
26 TMEM216 NM_001173990.2(TMEM216): c.316_317insTA (p.Tyr106Leufs) insertion Likely pathogenic GRCh38 Chromosome 11, 61397860: 61397861
27 TMEM216 NM_001173990.2(TMEM216): c.336C> A (p.Tyr112Ter) single nucleotide variant Likely pathogenic rs147267631 GRCh37 Chromosome 11, 61165352: 61165352
28 TMEM216 NM_001173990.2(TMEM216): c.336C> A (p.Tyr112Ter) single nucleotide variant Likely pathogenic rs147267631 GRCh38 Chromosome 11, 61397880: 61397880
29 TMEM216 NM_001173990.2(TMEM216): c.2T> A (p.Met1Lys) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 61160105: 61160105
30 TMEM216 NM_001173990.2(TMEM216): c.2T> A (p.Met1Lys) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 61392633: 61392633
31 TMEM216 NM_001173990.2(TMEM216): c.34+18_34+21delTGTG deletion Likely benign GRCh37 Chromosome 11, 61160151: 61160155
32 TMEM216 NM_001173990.2(TMEM216): c.34+18_34+21delTGTG deletion Likely benign GRCh38 Chromosome 11, 61392683: 61392686
33 TMEM216 NM_001173990.2(TMEM216): c.137-1G> A single nucleotide variant Likely pathogenic GRCh37 Chromosome 11, 61161355: 61161355
34 TMEM216 NM_001173990.2(TMEM216): c.137-1G> A single nucleotide variant Likely pathogenic GRCh38 Chromosome 11, 61393883: 61393883
35 TMEM216 NM_001173990.2(TMEM216): c.230-9dup duplication Uncertain significance GRCh37 Chromosome 11, 61165236: 61165236
36 TMEM216 NM_001173990.2(TMEM216): c.230-9dup duplication Uncertain significance GRCh38 Chromosome 11, 61397765: 61397765
37 TMEM216 NM_001173990.2(TMEM216): c.432-10_432-8delGTAinsAGTG indel Uncertain significance GRCh37 Chromosome 11, 61165731: 61165734
38 TMEM216 NM_001173990.2(TMEM216): c.432-10_432-8delGTAinsAGTG indel Uncertain significance GRCh38 Chromosome 11, 61398260: 61398262
39 TMEM216 NM_001173990.2(TMEM216): c.432-10delGinsAA indel Uncertain significance GRCh37 Chromosome 11, 61165731: 61165732
40 TMEM216 NM_001173990.2(TMEM216): c.432-10delGinsAA indel Uncertain significance GRCh38 Chromosome 11, 61398260: 61398260
41 TMEM216 NM_001173990.2(TMEM216): c.-9_11del20 deletion Uncertain significance GRCh37 Chromosome 11, 61160093: 61160113
42 TMEM216 NM_001173990.2(TMEM216): c.-9_11del20 deletion Uncertain significance GRCh38 Chromosome 11, 61392623: 61392642
43 TMEM216 NM_001173990.2(TMEM216): c.2T> C (p.Met1Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 61160105: 61160105
44 TMEM216 NM_001173990.2(TMEM216): c.2T> C (p.Met1Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 61392633: 61392633
45 TMEM216 NM_001173990.2(TMEM216): c.164_168del5 (p.Asn55Serfs) deletion Likely pathogenic GRCh37 Chromosome 11, 61161379: 61161384
46 TMEM216 NM_001173990.2(TMEM216): c.164_168del5 (p.Asn55Serfs) deletion Likely pathogenic GRCh38 Chromosome 11, 61393911: 61393915
47 TMEM216 NM_001173990.2(TMEM216): c.338dup (p.Leu114Thrfs) duplication Uncertain significance GRCh37 Chromosome 11, 61165353: 61165353
48 TMEM216 NM_001173990.2(TMEM216): c.338dup (p.Leu114Thrfs) duplication Uncertain significance GRCh38 Chromosome 11, 61397882: 61397882

Expression for Meckel Syndrome, Type 2

Search GEO for disease gene expression data for Meckel Syndrome, Type 2.

Pathways for Meckel Syndrome, Type 2

GO Terms for Meckel Syndrome, Type 2

Cellular components related to Meckel Syndrome, Type 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.72 B9D1 B9D2 MKS1 TMEM216 TMEM67
2 centrosome GO:0005813 9.67 B9D1 B9D2 MKS1 TMEM67
3 cilium GO:0005929 9.65 B9D2 MKS1 TMEM216 TMEM237 TMEM67
4 cell projection GO:0042995 9.63 B9D1 B9D2 MKS1 TMEM216 TMEM237 TMEM67
5 ciliary basal body GO:0036064 9.58 B9D1 B9D2 MKS1
6 MKS complex GO:0036038 9.35 B9D1 B9D2 MKS1 TMEM216 TMEM67
7 ciliary transition zone GO:0035869 9.1 B9D1 B9D2 MKS1 TMEM216 TMEM237 TMEM67

Biological processes related to Meckel Syndrome, Type 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ciliary basal body-plasma membrane docking GO:0097711 9.55 B9D1 B9D2 MKS1 TMEM216 TMEM67
2 cilium assembly GO:0060271 9.43 B9D1 B9D2 MKS1 TMEM216 TMEM237 TMEM67
3 embryonic digit morphogenesis GO:0042733 9.32 B9D1 MKS1
4 non-motile cilium assembly GO:1905515 9.26 MKS1 TMEM216
5 cell projection organization GO:0030030 9.1 B9D1 B9D2 MKS1 TMEM216 TMEM237 TMEM67

Sources for Meckel Syndrome, Type 2

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11 DGIdb
17 ExPASy
19 FMA
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