Meckel Syndrome, Type 8 (MKS8)

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Disease Ontology 12 DOID:0070122 OMIM 56 613885 OMIM Phenotypic Series 56 PS249000 MeSH 43 D002925 D004677 D007690

ICD10 32 Q61.9 MedGen 41 C3836857 CN077711 SNOMED-CT via HPO 68 204099004 204108000 205131007 249310005 249808002 253101008 258211005 271611007 397932003 41931001 48777005 55999004 60728008 61142002 63567004 7183006 80281008 87979003 95427009 95515009 more UMLS 71 C3836857

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.

Clinical features from OMIM:

613885

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

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