Meckel Syndrome, Type 8 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Eye diseases Neuronal diseases Bone diseases Nephrological diseases Liver diseases Endocrine diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of the urinary system

Cystic kidney disease

Cystic kidney disease, unspecified

External Ids:

OMIM ⁵⁷ 613885

Disease Ontology ¹² DOID:0070122

ICD10 ³³ Q61.9

MedGen ⁴² C3836857 CN077711

MeSH ⁴⁴ D002925 D004677 D007690

UMLS ⁷³ C3836857

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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.

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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:

#	Related Disease	Score	Top Affiliating Genes
1	short-rib thoracic dysplasia 6 with or without polydactyly	9.8	TCTN1 TCTN2
2	meckel syndrome, type 1	9.8	TCTN1 TCTN2
3	joubert syndrome 1	9.7	TCTN1 TCTN2

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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 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

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Drugs & Therapeutics for Meckel Syndrome, Type 8

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

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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

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Anatomical Context for Meckel Syndrome, Type 8

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

⁴¹

Kidney, Liver, Bone, Eye

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Publications for Meckel Syndrome, Type 8

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Genes for Meckel Syndrome, Type 8

Genes related to Meckel Syndrome, Type 8 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	TCTN2	Tectonic Family Member 2	Protein Coding	1096.07	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ Unconfirmed association ⁵⁷ DISEASES inferred ¹⁵ GeneCards inferred via : Gene name Summaries Variants (show sections)	21462283
2	TCTN1	Tectonic Family Member 1	Protein Coding	17.66	DISEASES inferred ¹⁵

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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

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Expression for Meckel Syndrome, Type 8

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

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Pathways for Meckel Syndrome, Type 8

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

#	Super pathways	Score	Top Affiliating Genes
1	Regulation of PLK1 Activity at G2/M Transition ⁶⁶ Show member pathways Anchoring of the basal body to the plasma membrane ⁶⁶ AURKA Activation by TPX2 ⁶⁶ Centrosome maturation ⁶⁶ G2/M Transition ⁶⁶ Interaction between PHLDA1 and AURKA ⁶⁶ Loss of Nlp from mitotic centrosomes ⁶⁶ Loss of proteins required for interphase microtubule organization from the centrosome ⁶⁶ Mitotic G2-G2/M phases ⁶⁶ Polo-like kinase mediated events ⁶⁶ Recruitment of mitotic centrosome proteins and complexes ⁶⁶ Recruitment of NuMA to mitotic centrosomes ⁶⁶	11.94	TCTN1 TCTN2
2	Organelle biogenesis and maintenance ⁶⁶ Show member pathways Cilium Assembly ⁶⁶	11.35	TCTN1 TCTN2

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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

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Sources for Meckel Syndrome, Type 8

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

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²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

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³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

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⁴⁴ MeSH

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⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

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⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

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⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

Meckel Syndrome, Type 8 (MKS8)

Aliases & Classifications for Meckel Syndrome, Type 8

MalaCards integrated aliases for Meckel Syndrome, Type 8:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Meckel Syndrome, Type 8

Related Diseases for Meckel Syndrome, Type 8

Diseases in the Meckel Syndrome, Type 1 family:

Diseases related to Meckel Syndrome, Type 8 via text searches within MalaCards or GeneCards Suite gene sharing:

Symptoms & Phenotypes for Meckel Syndrome, Type 8

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Meckel Syndrome, Type 8:

MGI Mouse Phenotypes related to Meckel Syndrome, Type 8:

Drugs & Therapeutics for Meckel Syndrome, Type 8

Genetic Tests for Meckel Syndrome, Type 8

Genetic tests related to Meckel Syndrome, Type 8:

Anatomical Context for Meckel Syndrome, Type 8

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

Publications for Meckel Syndrome, Type 8

Genes for Meckel Syndrome, Type 8

Genes related to Meckel Syndrome, Type 8 (1 elite genes):

Variations for Meckel Syndrome, Type 8

ClinVar genetic disease variations for Meckel Syndrome, Type 8:

Expression for Meckel Syndrome, Type 8

Pathways for Meckel Syndrome, Type 8

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

GO Terms for Meckel Syndrome, Type 8

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

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

Sources for Meckel Syndrome, Type 8