Meckel Syndrome, Type 1 (MKS1)

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Disease Ontology 12 DOID:0050778 DOID:0070115 OMIM 56 249000 OMIM Phenotypic Series 56 PS249000 KEGG 36 H00261 ICD9CM 34 753.1 753.10 MeSH 43 D002925 D004677 D007690 SNOMED-CT 67 82525005

ICD10 32 Q61.9 ICD10 via Orphanet 33 Q61.9 UMLS via Orphanet 72 C0265215 Orphanet 58 ORPHA564 MedGen 41 C0265215 C3714506 CN077329 SNOMED-CT via HPO 68 10362008 111332007 11731003 128306009 14447001 14821001 16026008 16294009 17268007 18735004 18978002 193570009 194021007 199612005 20239009 204099004 204108000 204470001 204712000 204731006 204878001 204942005 204962002 205131007 205135003 21995002 22006008 22033007 230745008 237774001 24614000 247053007 249101006 253101008 253136007 253184003 253273004 253752000 253789002 258211005 25942009 26098002 271611007 27317008 289263000 29980002 31258000 32958008 373413006 37849005 396351009 398309008 40159009 42376006 432119003 43876007 445216006 44593008 48641006 48777005 49496001 5102002 52368004 55999004 58748004 59494005 59566000 6096002 61142002 62218008 63567004 702624008 707147002 7183006 72925005 7305005 76976005 79607001 80281008 80825009 83330001 85659009 87979003 89369001 93030006 95427009 95515009 more UMLS 71 C0265215 C0311245 C3714506

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. Other signs and symptoms of Meckel syndrome vary widely among affected individuals. Numerous abnormalities of the brain and spinal cord (central nervous system) have been reported in people with Meckel syndrome, including a group of birth defects known as neural tube defects. These defects occur when a structure called the neural tube, a layer of cells that ultimately develops into the brain and spinal cord, fails to close completely during the first few weeks of embryonic development. Meckel syndrome can also cause problems with development of the eyes and other facial features, heart, bones, urinary system, and genitalia. Because of their serious health problems, most individuals with Meckel syndrome die before or shortly after birth. Most often, affected infants die of respiratory problems or kidney failure.

MalaCards based summary : Meckel Syndrome, Type 1, also known as meckel-gruber syndrome, is related to meckel syndrome, type 3 and bardet-biedl syndrome 13. An important gene associated with Meckel Syndrome, Type 1 is MKS1 (MKS Transition Zone Complex Subunit 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 heart, and related phenotypes are microcephaly and multicystic kidney dysplasia

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

NIH Rare Diseases : ⁵² 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.

OMIM : ⁵⁶ 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)

KEGG : ³⁶ Meckel syndrome (MKS) is a lethal, autosomal recessive disorder characterized by anomalies of the central nervous system, cystic dysplasia of the kidneys, and malformations of the hands and feet.

UniProtKB/Swiss-Prot : ⁷³ 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 : ⁷⁴ Meckel-Gruber syndrome is a rare, lethal, ciliopathic, genetic disorder, characterized by renal cystic... more...

Clinical features from OMIM:

249000

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