MKS8
MCID: MCK034
MIFTS: 33

Meckel Syndrome, Type 8 (MKS8)

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 8

MalaCards integrated aliases for Meckel Syndrome, Type 8:

Name: Meckel Syndrome, Type 8 57 40 73
Meckel Syndrome 8 57 12 75 13 15
Mks8 57 12 75
Meckel Syndrome Type 8 29 6
Meckel-Gruber Syndrome, Type 8 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
lethal in utero or perinatal lethal
one consanguineous arab family has been reported (last curated april 2015)


HPO:

32
meckel syndrome, type 8:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Meckel Syndrome, Type 8

OMIM : 57 Meckel-Gruber syndrome is a severe autosomal recessive ciliopathy classically defined by the triad of encephalocele, polydactyly, and renal and biliary ductal dysplasia. Clinical heterogeneity exists even within families (summary by Shaheen et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of Meckel syndrome, see MKS1 (249000). (613885)

MalaCards based summary : Meckel Syndrome, Type 8, also known as meckel syndrome 8, is related to short-rib thoracic dysplasia 6 with or without polydactyly and meckel syndrome, type 1. An important gene associated with Meckel Syndrome, Type 8 is TCTN2 (Tectonic Family Member 2), 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 low-set ears and short neck

Disease Ontology : 12 A Meckel syndrome that has material basis in an autosomal recessive mutation of TCTN2 on chromosome 12q24.31.

UniProtKB/Swiss-Prot : 75 Meckel syndrome 8: 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 8

Symptoms & Phenotypes for Meckel Syndrome, Type 8

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Neck:
short neck

Head And Neck Eyes:
microphthalmia
anophthalmia

Head And Neck Nose:
flat nose
hypoplastic nose

Head And Neck Ears:
low-set, malformed ears

Skeletal Feet:
polydactyly, postaxial
pes equinovarus

Neurologic Central Nervous System:
encephalocele, occipital

Head And Neck Head:
microcephaly
broad forehead

Head And Neck Mouth:
cleft lip

Abdomen External Features:
distended abdomen

Skeletal Hands:
polydactyly, postaxial

Genitourinary Kidneys:
cystic dysplasia

Abdomen Liver:
bile duct dysplasia


Clinical features from OMIM:

613885

Human phenotypes related to Meckel Syndrome, Type 8:

32 (show all 15)
# Description HPO Frequency HPO Source Accession
1 low-set ears 32 HP:0000369
2 short neck 32 HP:0000470
3 short nose 32 HP:0003196
4 microcephaly 32 HP:0000252
5 cleft palate 32 HP:0000175
6 talipes equinovarus 32 HP:0001762
7 broad forehead 32 HP:0000337
8 depressed nasal ridge 32 HP:0000457
9 microphthalmia 32 HP:0000568
10 cleft upper lip 32 HP:0000204
11 abdominal distention 32 HP:0003270
12 postaxial hand polydactyly 32 HP:0001162
13 anophthalmia 32 HP:0000528
14 encephalocele 32 HP:0002084
15 hyperechogenic kidneys 32 HP:0004719

MGI Mouse Phenotypes related to Meckel Syndrome, Type 8:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 8.62 TCTN1 TCTN2

Drugs & Therapeutics for Meckel Syndrome, Type 8

Search Clinical Trials , NIH Clinical Center for Meckel Syndrome, Type 8

Genetic Tests for Meckel Syndrome, Type 8

Genetic tests related to Meckel Syndrome, Type 8:

# Genetic test Affiliating Genes
1 Meckel Syndrome Type 8 29 TCTN2

Anatomical Context for Meckel Syndrome, Type 8

MalaCards organs/tissues related to Meckel Syndrome, Type 8:

41
Kidney, Liver, Bone, Eye

Publications for Meckel Syndrome, Type 8

Variations for Meckel Syndrome, Type 8

ClinVar genetic disease variations for Meckel Syndrome, Type 8:

6 (show all 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 TCTN2 NM_024809.4(TCTN2): c.1506-2A> G single nucleotide variant Likely pathogenic rs374349989 GRCh37 Chromosome 12, 124184249: 124184249
2 TCTN2 NM_024809.4(TCTN2): c.1506-2A> G single nucleotide variant Likely pathogenic rs374349989 GRCh38 Chromosome 12, 123699702: 123699702
3 TCTN2 NM_024809.4(TCTN2): c.1393+7C> T single nucleotide variant Benign/Likely benign rs7298440 GRCh37 Chromosome 12, 124181049: 124181049
4 TCTN2 NM_024809.4(TCTN2): c.1099+19T> C single nucleotide variant Benign rs7137946 GRCh37 Chromosome 12, 124177289: 124177289
5 TCTN2 NM_024809.4(TCTN2): c.1099+19T> C single nucleotide variant Benign rs7137946 GRCh38 Chromosome 12, 123692742: 123692742
6 TCTN2 NM_024809.4(TCTN2): c.1128T> C (p.Pro376=) single nucleotide variant Benign rs7966867 GRCh37 Chromosome 12, 124179417: 124179417
7 TCTN2 NM_024809.4(TCTN2): c.1128T> C (p.Pro376=) single nucleotide variant Benign rs7966867 GRCh38 Chromosome 12, 123694870: 123694870
8 TCTN2 NM_024809.4(TCTN2): c.1393+7C> T single nucleotide variant Benign/Likely benign rs7298440 GRCh38 Chromosome 12, 123696502: 123696502
9 TCTN2 NM_024809.4(TCTN2): c.599G> A (p.Arg200Gln) single nucleotide variant Benign/Likely benign rs79251326 GRCh37 Chromosome 12, 124171417: 124171417
10 TCTN2 NM_024809.4(TCTN2): c.599G> A (p.Arg200Gln) single nucleotide variant Benign/Likely benign rs79251326 GRCh38 Chromosome 12, 123686870: 123686870
11 TCTN2 NM_024809.4(TCTN2): c.891+7G> A single nucleotide variant Benign/Likely benign rs7313032 GRCh37 Chromosome 12, 124172731: 124172731
12 TCTN2 NM_024809.4(TCTN2): c.891+7G> A single nucleotide variant Benign/Likely benign rs7313032 GRCh38 Chromosome 12, 123688184: 123688184
13 TCTN2 NM_024809.4(TCTN2): c.134dupT (p.Val46Glyfs) duplication Pathogenic rs797046040 GRCh37 Chromosome 12, 124156105: 124156105
14 TCTN2 NM_024809.4(TCTN2): c.134dupT (p.Val46Glyfs) duplication Pathogenic rs797046040 GRCh38 Chromosome 12, 123671558: 123671558
15 TCTN2 NM_024809.4(TCTN2): c.703delC (p.Leu235Cysfs) deletion Pathogenic rs760830696 GRCh38 Chromosome 12, 123686974: 123686974
16 TCTN2 NM_024809.4(TCTN2): c.703delC (p.Leu235Cysfs) deletion Pathogenic rs760830696 GRCh37 Chromosome 12, 124171521: 124171521
17 TCTN2 NM_024809.4(TCTN2): c.964dupA (p.Thr322Asnfs) duplication Likely pathogenic rs886044138 GRCh37 Chromosome 12, 124175152: 124175152
18 TCTN2 NM_024809.4(TCTN2): c.964dupA (p.Thr322Asnfs) duplication Likely pathogenic rs886044138 GRCh38 Chromosome 12, 123690605: 123690605

Expression for Meckel Syndrome, Type 8

Search GEO for disease gene expression data for Meckel Syndrome, Type 8.

Pathways for Meckel Syndrome, Type 8

GO Terms for Meckel Syndrome, Type 8

Cellular components related to Meckel Syndrome, Type 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 8.96 TCTN1 TCTN2
2 MKS complex GO:0036038 8.62 TCTN1 TCTN2

Biological processes related to Meckel Syndrome, Type 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 9.16 TCTN1 TCTN2
2 cell projection organization GO:0030030 8.96 TCTN1 TCTN2
3 ciliary basal body-plasma membrane docking GO:0097711 8.62 TCTN1 TCTN2

Sources for Meckel Syndrome, Type 8

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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