MCID: MCK031
MIFTS: 23

Meckel Syndrome, Type 2

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 2

MalaCards integrated aliases for Meckel Syndrome, Type 2:

Name: Meckel Syndrome, Type 2 57 40 73
Meckel Syndrome 2 57 12 75 13
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, is also known as meckel syndrome 2. An important gene associated with Meckel Syndrome, Type 2 is TMEM216 (Transmembrane Protein 216). Affiliated tissues include kidney, liver and bone, and related phenotypes are renal cyst 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

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

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

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 20)
# 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

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

Sources for Meckel Syndrome, Type 2

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17 ExPASy
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74 UMLS via Orphanet
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