MKS1
MCID: MCK013
MIFTS: 67
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Meckel Syndrome, Type 1 (MKS1)
Categories:
Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Nephrological diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Meckel Syndrome, Type 1:
Characteristics:Inheritance:
Meckel Syndrome, Type 1:
Autosomal recessive 57
Meckel Syndrome:
Autosomal recessive 58
Prevelance:
Meckel Syndrome:
1-9/100000 (France, Worldwide, Europe)
<1/1000000 (France, Worldwide)
1-5/10000 (Finland) 58
Age Of Onset:
Meckel Syndrome:
Antenatal 58
Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Eye diseases Nephrological diseases Bone diseases Liver diseases Mental diseases
ICD10:
31
32
ICD11:
33
Orphanet: 58
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MedlinePlus Genetics: 42 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 6 and joubert syndrome 1. An important gene associated with Meckel Syndrome, Type 1 is MKS1 (MKS Transition Zone Complex Subunit 1), and among its related pathways/superpathways are Loss of Nlp from mitotic centrosomes and Organelle biogenesis and maintenance. Affiliated tissues include kidney, spinal cord and bone, and related phenotypes are microcephaly and multicystic kidney dysplasia 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) (Updated 08-Dec-2022) GARD: 19 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. Meckel syndrome is caused by genetic changes in one of eight genes, and it is inherited in an autosomal-recessive manner. Orphanet: 58 A rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation (mainly occipital encephalocele), large polycystic kidneys, and polydactyly, as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia. Disease Ontology 11 Meckel syndrome: A ciliopathy that is characterized by renal cystic dysplasia, occipital encephalocele, polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia. Meckel syndrome 1: A Meckel syndrome that has material basis in an autosomal recessive mutation of MKS1 on chromosome 17q22. UniProtKB/Swiss-Prot: 73 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: 75 Meckel-Gruber syndrome is a rare, lethal ciliopathic genetic disorder, characterized by renal cystic... more... |
Human phenotypes related to Meckel Syndrome, Type 1:58 30 (show top 50) (show all 104)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:249000 (Updated 08-Dec-2022)MGI Mouse Phenotypes related to Meckel Syndrome, Type 1:45 (show all 13)
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Interventional clinical trials:
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Organs/tissues related to Meckel Syndrome, Type 1:
MalaCards :
Kidney,
Spinal Cord,
Bone,
Liver,
Brain,
Eye,
Heart
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Articles related to Meckel Syndrome, Type 1:(show top 50) (show all 615)
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ClinVar genetic disease variations for Meckel Syndrome, Type 1:5 (show top 50) (show all 5023)
UniProtKB/Swiss-Prot genetic disease variations for Meckel Syndrome, Type 1:73
Copy number variations for Meckel Syndrome, Type 1 from CNVD:6
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Search
GEO
for disease gene expression data for Meckel Syndrome, Type 1.
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Pathways related to Meckel Syndrome, Type 1 according to GeneCards Suite gene sharing:
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Cellular components related to Meckel Syndrome, Type 1 according to GeneCards Suite gene sharing:
Biological processes related to Meckel Syndrome, Type 1 according to GeneCards Suite gene sharing:(show all 15)
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