MKS8
MCID: MCK034
MIFTS: 33
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Meckel Syndrome, Type 8 (MKS8)
Categories:
Bone diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Nephrological diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Meckel Syndrome, Type 8:
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:32Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Eye diseases Neuronal diseases Bone diseases Nephrological diseases Liver diseases Endocrine diseases
ICD10:
33
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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. |
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:
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:613885Human phenotypes related to Meckel Syndrome, Type 8:32 (show all 15)
MGI Mouse Phenotypes related to Meckel Syndrome, Type 8:46
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MalaCards organs/tissues related to Meckel Syndrome, Type 8:41
Kidney,
Liver,
Bone,
Eye
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ClinVar genetic disease variations for Meckel Syndrome, Type 8:6 (show all 18)
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Search
GEO
for disease gene expression data for Meckel Syndrome, Type 8.
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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:
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