Meckel Syndrome 1 malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Nephrological diseases, Bone diseases, Fetal diseases, Immune diseases, Endocrine diseases
50OMIM, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 11Disease Ontology, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 66UMLS, 30ICD9CM, 67UMLS via Orphanet, 29ICD10 via Orphanet, 35MedGen, 37MeSH, 60SNOMED-CT, 62The Human Phenotype Ontology
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Aliases & Descriptions for Meckel Syndrome 1:
Orphanet epidemiological data:52
Inheritance: Autosomal recessive; Prevalence: 1-5/10000 (Finland),1-9/100000 (Worldwide),<1/1000000 (Worldwide),1-9/100000 (Europe); Age of onset: Antenatal; Age of death: embryofetal,infantile,stillbirth
meckel syndrome 1:
Inheritance: autosomal recessive inheritance
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Neuronal diseases, Eye diseases, Nephrological diseases, Bone diseases, Immune diseases, Endocrine diseases
Rare neurological diseases
Rare eye diseases
Rare renal diseases
Rare bone diseases
Developmental anomalies during embryogenesis
OMIM:50 Meckel syndrome, also known as Meckel-Gruber syndrome, is a severe pleiotropic autosomal recessive developmental... (249000) more...
MalaCards based summary: Meckel Syndrome 1, also known as meckel syndrome, is related to meckel syndrome 7 and meckel syndrome 3, and has symptoms including multicystic kidney dysplasia, microcephaly and postaxial hand polydactyly. An important gene associated with Meckel Syndrome 1 is MKS1 (Meckel Syndrome, Type 1), and among its related pathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. Affiliated tissues include kidney, liver and brain, and related mouse phenotypes are craniofacial and liver/biliary system.
Disease Ontology:11 A ciliopathy that is characterized by renal cystic dysplasia, occipital encephalocele, polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia.
Genetics Home Reference:24 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:46 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. last updated: 5/30/2012
UniProtKB/Swiss-Prot:68 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:69 Meckel syndrome, type 1 also known as MKS1 is a protein that in humans is encoded by the MKS1 gene. more...
Symptoms by clinical synopsis from OMIM:249000
Clinical features from OMIM:249000
Symptoms:52 (show all 45)
HPO human phenotypes related to Meckel Syndrome 1:(show all 98)
MalaCards organs/tissues related to Meckel Syndrome 1:34
Kidney, Liver, Brain, Lung, Tongue, Bone, Spleen
MGI Mouse Phenotypes related to Meckel Syndrome 1:39 (show all 13)
Articles related to Meckel Syndrome 1:
Clinvar genetic disease variations for Meckel Syndrome 1:5 (show all 22)
Copy number variations for Meckel Syndrome 1 from CNVD:6
Search GEO for disease gene expression data for Meckel Syndrome 1.
Pathways related to Meckel Syndrome 1 according to GeneCards Suite gene sharing:
Cellular components related to Meckel Syndrome 1 according to GeneCards Suite gene sharing:(show all 12)
Biological processes related to Meckel Syndrome 1 according to GeneCards Suite gene sharing:(show all 21)
Molecular functions related to Meckel Syndrome 1 according to GeneCards Suite gene sharing:
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet