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MCID: MCK034
MIFTS: 23
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Meckel Syndrome, Type 8
Categories:
Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Nephrological diseases, Bone diseases, Fetal diseases, Immune diseases, Liver diseases, Endocrine 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 Rare diseases Fetal diseases Anatomical: Neuronal diseases Eye diseases Nephrological diseases Bone diseases Immune diseases Liver diseases Endocrine diseases
ICD10:
33
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OMIM
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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, is also known as meckel syndrome 8. An important gene associated with Meckel Syndrome, Type 8 is TCTN2 (Tectonic Family Member 2). Affiliated tissues include kidney, and related phenotypes are cleft palate and cleft upper lip 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. |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:613885Human phenotypes related to Meckel Syndrome, Type 8:32 (show all 15)
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MalaCards organs/tissues related to Meckel Syndrome, Type 8:41
Kidney
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Genes related to Meckel Syndrome, Type 8 (1 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Meckel Syndrome, Type 8:6
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Search
GEO
for disease gene expression data for Meckel Syndrome, Type 8.
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