Meckel Syndrome, Type 1 (MKS1)

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OMIM 57 249000 Disease Ontology 12 DOID:0050778 DOID:0070115 ICD9CM 35 753.1 753.10 SNOMED-CT 68 82525005 ICD10 33 Q61.9 Orphanet 59 ORPHA564 UMLS via Orphanet 74 C0265215

ICD10 via Orphanet 34 Q61.9 MedGen 42 C3714506 C0265215 CN077329 MeSH 44 D002925 D004677 D007690 KEGG 37 H00261 SNOMED-CT via HPO 69 204962002 258211005 204878001 111332007 49496001 204942005 37849005 40159009 63567004 87979003 253752000 80281008 52368004 230745008 271611007 194021007 22006008 32958008 95515009 11731003 95427009 26098002 128306009 193570009 247053007 204099004 7183006 204108000 61142002 44593008 76976005 21995002 58748004 237774001 373413006 205131007 205135003 445216006 204470001 5102002 14447001 16026008 20239009 199612005 22033007 18735004 59566000 249101006 6096002 83330001 253273004 396351009 59494005 7305005 14821001 24614000 27317008 43876007 31258000 16294009 702624008 707147002 93030006 10362008 62218008 398309008 204712000 204731006 253101008 48777005 55999004 42376006 80825009 253184003 89369001 253789002 29980002 48641006 79607001 432119003 85659009 289263000 72925005 253136007 18978002 17268007 25942009 127020005 more UMLS 73 C0311245 C3714506 C0265215

OMIM : ⁵⁷ 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 Opitz and Howe (1969) and 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, 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, Logan et al. (2011) stated that the classic triad first described by Meckel (1822) included occipital encephalocele, cystic kidneys, and fibrotic changes to the liver. (249000)

MalaCards based summary : Meckel Syndrome, Type 1, also known as meckel-gruber syndrome, is related to meckel syndrome, type 5 and bardet-biedl syndrome 13. An important gene associated with Meckel Syndrome, Type 1 is MKS1 (Meckel Syndrome, Type 1), 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 brain, and related phenotypes are hypertelorism and hydrocephalus

Disease Ontology : ¹² A ciliopathy that is characterized by renal cystic dysplasia, occipital encephalocele, polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia.

Genetics Home Reference : ²⁵ Meckel syndrome is a disorder with severe signs and symptoms that affect many parts of the body. The most common features are enlarged kidneys with numerous fluid-filled cysts; an occipital encephalocele, which is a sac-like protrusion of the brain through an opening at the back of the skull; and the presence of extra fingers and toes (polydactyly). Most affected individuals also have a buildup of scar tissue (fibrosis) in the liver.

NIH Rare Diseases : ⁵³ Meckel syndrome is a very severe disorder that is characterized by multiple cysts on the kidneys, protrusion of a portion of the brain through an opening in the skull (occipital encephalocele), and extra fingers or toes (polydactyly). Affected children may also have abnormalities affecting the head and face, liver, lungs, genitals, and urinary tract. Because of these serious health problems, most infants with Meckel syndrome do not survive for long after birth. Meckel syndrome is caused by mutations in one of eight genes, and it is inherited in an autosomal-recessive manner. 

UniProtKB/Swiss-Prot : ⁷⁵ Meckel syndrome 1: 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.

Wikipedia : ⁷⁶ Meckel syndrome (also known as Meckel�??Gruber syndrome, Gruber syndrome, dysencephalia... more...

Clinical features from OMIM:

249000

Search NIH Clinical Center for Meckel Syndrome, Type 1

Search GEO for disease gene expression data for Meckel Syndrome, Type 1.