MKS8
MCID: MCK034
MIFTS: 41

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 56 39 71
Meckel Syndrome 8 56 12 73 13 15
Mks8 56 12 73
Meckel Syndrome Type 8 29 6
Meckel-Gruber Syndrome, Type 8 12

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
meckel syndrome, type 8:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Meckel Syndrome, Type 8

OMIM : 56 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 orofaciodigital syndrome iv and joubert syndrome 16. 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 eye, 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 : 73 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

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

(show top 50) (show all 59)
# Related Disease Score Top Affiliating Genes
1 orofaciodigital syndrome iv 10.1 TMEM231 TMEM216
2 joubert syndrome 16 10.0 TMEM231 TMEM216
3 joubert syndrome 15 10.0 TMEM237 TCTN2
4 short-rib thoracic dysplasia 6 with or without polydactyly 9.9 TMEM67 TMEM216 TCTN2
5 joubert syndrome 13 9.8 TMEM67 TMEM216 TCTN2 CC2D2A
6 joubert syndrome 20 9.8 TMEM67 TMEM237 TMEM231
7 ciliopathy 9.7 TMEM67 RPGRIP1L
8 polycystic kidney disease 2 with or without polycystic liver disease 9.7 TMEM67 MKS1
9 congenital hepatic fibrosis 9.7 TMEM67 RPGRIP1L CC2D2A
10 coach syndrome 9.7 TMEM67 RPGRIP1L CC2D2A
11 short-rib thoracic dysplasia 1 with or without polydactyly 9.6 TMEM67 RPGRIP1L CC2D2A
12 arima syndrome 9.6 TMEM237 TMEM231 TMEM216 CC2D2A
13 nephronophthisis 1 9.6 NPHP3 MKS1 B9D2 B9D1
14 joubert syndrome 24 9.5 TMEM231 TCTN2 RPGRIP1L B9D1
15 nephronophthisis 19 9.5 TMEM67 RPGRIP1L NPHP3
16 acrocallosal syndrome 9.5 TMEM216 RPGRIP1L
17 joubert syndrome 9 9.5 TMEM67 TMEM216 RPGRIP1L CC2D2A
18 oligohydramnios 9.5 TMEM67 TMEM231 MKS1 CC2D2A
19 joubert syndrome 8 9.5 TMEM67 TMEM216 RPGRIP1L CC2D2A
20 encephalocele 9.4 TMEM67 MKS1 CC2D2A B9D2 B9D1
21 nephronophthisis 14 9.3 TMEM67 TCTN2 RPGRIP1L CC2D2A B9D1
22 joubert syndrome 10 9.3 TMEM67 TMEM216 TCTN2 RPGRIP1L CC2D2A
23 apraxia 9.3 TMEM67 TMEM216 TCTN2 RPGRIP1L CC2D2A
24 cranioectodermal dysplasia 1 9.1 TMEM67 TCTN2 RPGRIP1L MKS1 CC2D2A
25 orofaciodigital syndrome 9.1 TMEM67 TMEM231 TMEM216 TCTN2 MKS1 CC2D2A
26 joubert syndrome 6 9.1 TMEM67 TMEM216 RPGRIP1L MKS1 CC2D2A
27 joubert syndrome 2 9.1 TMEM67 TMEM216 RPGRIP1L MKS1 CC2D2A
28 bardet-biedl syndrome 14 9.1 TMEM67 TMEM216 RPGRIP1L MKS1 CC2D2A
29 meckel syndrome, type 7 9.1 TMEM237 TMEM231 TMEM216 NPHP3 B9D2 B9D1
30 joubert syndrome 14 9.0 TMEM237 TMEM231 TMEM216 RPGRIP1L B9D2 B9D1
31 nephronophthisis 7 9.0 TMEM67 RPGRIP1L NPHP3 MKS1 CC2D2A
32 hydrolethalus syndrome 1 8.9 TMEM67 TMEM216 RPGRIP1L MKS1 CC2D2A B9D1
33 nephronophthisis 9 8.8 TMEM67 TMEM216 RPGRIP1L NPHP3 MKS1 B9D2
34 nephronophthisis 11 8.7 TMEM67 TMEM216 RPGRIP1L NPHP3 MKS1 CC2D2A
35 joubert syndrome 7 8.7 TMEM67 TMEM216 RPGRIP1L MKS1 CC2D2A B9D2
36 leber congenital amaurosis 8.6 TMEM67 TMEM216 RPGRIP1L NPHP3 MKS1 CC2D2A
37 joubert syndrome 5 8.5 TMEM67 TMEM216 TCTN2 RPGRIP1L MKS1 CC2D2A
38 retinitis pigmentosa 8.5 TMEM67 TMEM216 RPGRIP1L NPHP3 MKS1 CC2D2A
39 cystic kidney disease 8.4 TMEM67 TMEM216 TCTN2 RPGRIP1L NPHP3 MKS1
40 joubert syndrome 3 8.4 TMEM67 TMEM216 TCTN2 RPGRIP1L NPHP3 MKS1
41 nephronophthisis 2 8.3 TMEM67 TMEM216 RPGRIP1L NPHP3 MKS1 CC2D2A
42 visceral heterotaxy 8.3 TMEM67 TMEM216 TCTN2 RPGRIP1L NPHP3 MKS1
43 meckel syndrome, type 6 8.2 TMEM67 TMEM231 TMEM216 TCTN2 RPGRIP1L MKS1
44 orofaciodigital syndrome vi 8.1 TMEM67 TMEM237 TMEM231 TMEM216 TCTN2 RPGRIP1L
45 primary ciliary dyskinesia 8.1 TMEM67 TMEM216 TCTN2 RPGRIP1L NPHP3 MKS1
46 polycystic kidney disease 4 with or without polycystic liver disease 8.0 TMEM67 TMEM231 TMEM216 TCTN2 RPGRIP1L NPHP3
47 joubert syndrome 4 8.0 TMEM67 TMEM237 TMEM216 TCTN2 RPGRIP1L NPHP3
48 meckel syndrome, type 5 7.9 TMEM67 TMEM237 TMEM231 TMEM216 TCTN2 RPGRIP1L
49 meckel syndrome, type 2 7.9 TMEM67 TMEM237 TMEM231 TMEM216 TCTN2 RPGRIP1L
50 senior-loken syndrome 1 7.8 TMEM67 TMEM231 TMEM216 TCTN2 RPGRIP1L NPHP3

Graphical network of the top 20 diseases related to Meckel Syndrome, Type 8:



Diseases related to Meckel Syndrome, Type 8

Symptoms & Phenotypes for Meckel Syndrome, Type 8

Human phenotypes related to Meckel Syndrome, Type 8:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 low-set ears 31 HP:0000369
2 short neck 31 HP:0000470
3 short nose 31 HP:0003196
4 microcephaly 31 HP:0000252
5 cleft palate 31 HP:0000175
6 talipes equinovarus 31 HP:0001762
7 broad forehead 31 HP:0000337
8 depressed nasal ridge 31 HP:0000457
9 microphthalmia 31 HP:0000568
10 cleft upper lip 31 HP:0000204
11 anophthalmia 31 HP:0000528
12 abdominal distention 31 HP:0003270
13 postaxial hand polydactyly 31 HP:0001162
14 encephalocele 31 HP:0002084
15 hyperechogenic kidneys 31 HP:0004719

Symptoms via clinical synopsis from OMIM:

56
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

MGI Mouse Phenotypes related to Meckel Syndrome, Type 8:

45 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.19 B9D1 B9D2 CC2D2A MKS1 NPHP3 RPGRIP1L
2 cellular MP:0005384 10.08 B9D1 B9D2 CC2D2A MKS1 NPHP3 RPGRIP1L
3 craniofacial MP:0005382 10.06 B9D1 B9D2 CC2D2A MKS1 NPHP3 RPGRIP1L
4 embryo MP:0005380 10.06 B9D1 B9D2 CC2D2A MKS1 NPHP3 RPGRIP1L
5 growth/size/body region MP:0005378 10.02 B9D1 B9D2 CC2D2A MKS1 NPHP3 RPGRIP1L
6 digestive/alimentary MP:0005381 9.98 B9D1 B9D2 CC2D2A MKS1 RPGRIP1L TCTN2
7 limbs/digits/tail MP:0005371 9.92 B9D1 B9D2 CC2D2A MKS1 RPGRIP1L TCTN2
8 nervous system MP:0003631 9.81 B9D1 B9D2 CC2D2A MKS1 NPHP3 RPGRIP1L
9 liver/biliary system MP:0005370 9.65 B9D1 B9D2 MKS1 RPGRIP1L TMEM67
10 renal/urinary system MP:0005367 9.56 B9D1 B9D2 CC2D2A MKS1 NPHP3 RPGRIP1L
11 vision/eye MP:0005391 9.23 B9D1 B9D2 CC2D2A MKS1 RPGRIP1L 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:

40
Kidney, Liver, Eye, Bone

Publications for Meckel Syndrome, Type 8

Articles related to Meckel Syndrome, Type 8:

# Title Authors PMID Year
1
A TCTN2 mutation defines a novel Meckel Gruber syndrome locus. 61 56 6
21462283 2011

Variations for Meckel Syndrome, Type 8

ClinVar genetic disease variations for Meckel Syndrome, Type 8:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TCTN2 NM_024809.5(TCTN2):c.703del (p.Leu235fs)deletion Pathogenic 212389 rs760830696 12:124171521-124171521 12:123686974-123686974
2 TCTN2 NM_024809.5(TCTN2):c.134dup (p.Val46fs)duplication Pathogenic 212387 rs797046040 12:124156104-124156105 12:123671557-123671558
3 TCTN2 NM_024809.5(TCTN2):c.1506-2A>GSNV Pathogenic/Likely pathogenic 31076 rs374349989 12:124184249-124184249 12:123699702-123699702
4 TCTN2 NM_024809.5(TCTN2):c.668C>T (p.Thr223Met)SNV Uncertain significance 212388 rs145374149 12:124171486-124171486 12:123686939-123686939
5 TCTN2 NM_024809.5(TCTN2):c.1393+7C>TSNV Benign/Likely benign 126285 rs7298440 12:124181049-124181049 12:123696502-123696502
6 TCTN2 NM_024809.5(TCTN2):c.599G>A (p.Arg200Gln)SNV Benign/Likely benign 126288 rs79251326 12:124171417-124171417 12:123686870-123686870
7 TCTN2 NM_024809.5(TCTN2):c.891+7G>ASNV Benign/Likely benign 126294 rs7313032 12:124172731-124172731 12:123688184-123688184
8 TCTN2 NM_024809.5(TCTN2):c.1099+19T>CSNV Benign 126282 rs7137946 12:124177289-124177289 12:123692742-123692742
9 TCTN2 NM_024809.5(TCTN2):c.1128T>C (p.Pro376=)SNV Benign 126283 rs7966867 12:124179417-124179417 12:123694870-123694870

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 cytoskeleton GO:0005856 9.92 TMEM67 TMEM216 TCTN2 RPGRIP1L MKS1 CC2D2A
2 MKS complex GO:0036038 9.86 TMEM67 TMEM231 TMEM216 TCTN2 MKS1 CC2D2A
3 ciliary transition zone GO:0035869 9.81 TMEM67 TMEM237 TMEM231 TMEM216 RPGRIP1L MKS1
4 centrosome GO:0005813 9.8 TMEM67 RPGRIP1L MKS1 B9D2 B9D1
5 ciliary basal body GO:0036064 9.67 RPGRIP1L MKS1 B9D2 B9D1
6 cilium GO:0005929 9.65 TMEM67 TMEM237 TMEM231 TMEM218 TMEM216 RPGRIP1L
7 ciliary membrane GO:0060170 9.61 TMEM67 TMEM231 TCTN2
8 cell projection GO:0042995 9.4 TMEM67 TMEM237 TMEM231 TMEM218 TMEM216 TCTN2

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 ciliary basal body-plasma membrane docking GO:0097711 9.76 TMEM67 TMEM216 TCTN2 RPGRIP1L MKS1 CC2D2A
2 in utero embryonic development GO:0001701 9.74 TMEM231 RPGRIP1L B9D1
3 determination of left/right symmetry GO:0007368 9.71 RPGRIP1L NPHP3 MKS1 CC2D2A
4 camera-type eye development GO:0043010 9.67 TMEM231 RPGRIP1L CC2D2A B9D1
5 smoothened signaling pathway GO:0007224 9.65 TMEM231 TCTN2 MKS1 CC2D2A B9D1
6 embryonic digit morphogenesis GO:0042733 9.63 TMEM231 MKS1 B9D1
7 non-motile cilium assembly GO:1905515 9.62 TMEM216 RPGRIP1L MKS1 CC2D2A
8 cell projection organization GO:0030030 9.61 TMEM67 TMEM237 TMEM231 TMEM216 TCTN2 MKS1
9 regulation of protein localization GO:0032880 9.58 TMEM231 B9D1
10 vasculature development GO:0001944 9.56 TMEM231 B9D1
11 regulation of smoothened signaling pathway GO:0008589 9.55 RPGRIP1L MKS1
12 motile cilium assembly GO:0044458 9.54 MKS1 CC2D2A
13 head development GO:0060322 9.52 RPGRIP1L MKS1
14 embryonic brain development GO:1990403 9.51 MKS1 CC2D2A
15 neuroepithelial cell differentiation GO:0060563 9.49 TMEM231 B9D1
16 protein localization to ciliary transition zone GO:1904491 9.48 TCTN2 CC2D2A
17 regulation of Wnt signaling pathway, planar cell polarity pathway GO:2000095 9.43 NPHP3 MKS1
18 cilium assembly GO:0060271 9.36 TMEM67 TMEM237 TMEM231 TMEM216 TCTN2 RPGRIP1L

Sources for Meckel Syndrome, Type 8

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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