Meckel syndrome type1

Common Name(s)

Meckel syndrome type1

Meckel syndrome, also known as Meckel-Gruber syndrome, is a severe pleiotropic autosomal recessive developmental disorder caused by dysfunction of primary cilia during early embryogenesis. There is extensive clinical variability and controversy as to the minimum diagnostic criteria. Early reports, including that of {36:Opitz and Howe, 1969)} and {62:Wright et al. (1994)}, stated that the classic triad of Meckel syndrome comprises (1) cystic renal disease; (2) a central nervous system malformation, most commonly occipital encephalocele; and (3) polydactyly, most often postaxial. However, based on a study of 67 patients, {45:Salonen (1984)} concluded that the minimum diagnostic criteria are (1) cystic renal disease; (2) CNS malformation, and (3) hepatic abnormalities, including portal fibrosis or ductal proliferation. In a review of Meckel syndrome, {27:Logan et al. (2011)} stated that the classic triad first described by {31:Meckel (1822)} included occipital encephalocele, cystic kidneys, and fibrotic changes to the liver. Genetic Heterogeneity of Meckel Syndrome See also MKS2 ({603194}), caused by mutation in the TMEM216 gene ({613277}) on chromosome 11q13; MKS3 ({607361}), caused by mutation in the TMEM67 gene ({609884}) on chromosome 8q; MKS4 ({611134}), caused by mutation in the CEP290 gene ({610142}) on chromosome 12q; MKS5 ({611561}), caused by mutation in the RPGRIP1L gene ({610937}) on chromosome 16q12.2; MKS6 ({612284}), caused by mutation in the CC2D2A gene ({612013}) on chromosome 4p15; MKS7 ({267010}), caused by mutation in the NPHP3 ({608002}) gene on chromosome 3q22; MKS8 ({613885}), caused by mutation in the TCTN2 gene ({613846}) on chromosome 12q24.31; MKS9 ({614209}), caused by mutation in the B9D1 gene ({614144}) on chromosome 17p11.2; MKS10 ({614175}), caused by mutation in the B9D2 gene ({611951}) on chromosome 19q13; and MKS11 ({615397}), caused by mutation in the TMEM231 gene ({614949}) on chromosome 16q23.
 

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Scientific Literature

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource
 

Status: Recruiting

Condition Summary: Hepato/Renal Fibrocystic Disease; Autosomal Recessive Polycystic Kidney Disease; Joubert Syndrome; Bardet Biedl Syndrome; Meckel-Gruber Syndrome; Congenital Hepatic Fibrosis; Caroli Syndrome; Oro-Facial-Digital Syndrome Type I; Nephronophthisis; Glomerulocystic Kidney Disease

 

Last Updated: 12 Jan 2014

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