Miller-Dieker Lissencephaly Syndrome malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases
50OMIM, 11Disease Ontology, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 48Novoseek, 66UMLS, 28ICD10, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
See all MalaCards sources
Aliases & Descriptions for Miller-Dieker Lissencephaly Syndrome:
Orphanet epidemiological data:52
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Neuronal diseases
ICD10: 29 28
OMIM:50 Features of the Miller-Dieker syndrome include classic lissencephaly (pachygyria, incomplete or absent gyration of the... (247200) more...
MalaCards based summary: Miller-Dieker Lissencephaly Syndrome, also known as miller-dieker syndrome, is related to myelodysplastic syndrome and epidermolysis bullosa simplex with muscular dystrophy, and has symptoms including intellectual disability, motor delay and epicanthus. An important gene associated with Miller-Dieker Lissencephaly Syndrome is PAFAH1B1 (Platelet Activating Factor Acetylhydrolase 1b Regulatory Subunit 1), and among its related pathways are IGF1 pathway and Lissencephaly gene (LIS1) in neuronal migration and development. Affiliated tissues include brain, cortex and skin.
Disease Ontology:11 A syndrome characterized by classical lissencephaly and distinct facial features. visible and submicroscopic deletions of 17p13.3, including the lis1 gene, are found in almost 100% of patients.
Genetics Home Reference:24 Miller-Dieker syndrome is a condition characterized by a pattern of abnormal brain development known as lissencephaly. Normally the exterior of the brain (cerebral cortex) is multi-layered with folds and grooves. People with lissencephaly have an abnormally smooth brain with fewer folds and grooves. These brain malformations cause severe intellectual disability, developmental delay, seizures, abnormal muscle stiffness (spasticity), weak muscle tone (hypotonia), and feeding difficulties. Seizures usually begin before six months of age, and some occur from birth. Typically, the smoother the surface of the brain is, the more severe the associated symptoms are.
NIH Rare Diseases:46 Miller-dieker syndrome (mds) is a genetic condition characterized by a specific brain malformation (lissencephaly); distinctive facial features; and severe neurologic abnormalities including intellectual disability and seizures. very few affected children survive beyond childhood. mds is caused by a deletion (missing piece) of genetic material on the short arm of chromosome 17 (17p). most cases are not inherited and occur randomly. in some cases, it is caused by inheriting a chromosome rearrangement (balanced translocation) from an unaffected parent. treatment is based on the symptoms in each person and aims to prevent complications and control seizures. last updated: 5/18/2016
UniProtKB/Swiss-Prot:68 Miller-Dieker lissencephaly syndrome: A contiguous gene deletion syndrome of chromosome 17p13.3, characterized by classical lissencephaly and distinct facial features. Additional congenital malformations can be part of the condition.
Symptoms by clinical synopsis from OMIM:247200
Clinical features from OMIM:247200
Symptoms:52 (show all 18)
HPO human phenotypes related to Miller-Dieker Lissencephaly Syndrome:(show all 66)
UMLS symptoms related to Miller-Dieker Lissencephaly Syndrome:seizures
MalaCards organs/tissues related to Miller-Dieker Lissencephaly Syndrome:34
Brain, Cortex, Skin, Heart, Kidney
Articles related to Miller-Dieker Lissencephaly Syndrome:
Copy number variations for Miller-Dieker Lissencephaly Syndrome from CNVD:6
Search GEO for disease gene expression data for Miller-Dieker Lissencephaly Syndrome.
Cellular components related to Miller-Dieker Lissencephaly Syndrome according to GeneCards Suite gene sharing:
Biological processes related to Miller-Dieker Lissencephaly Syndrome according to GeneCards Suite gene sharing:(show all 8)
Molecular functions related to Miller-Dieker Lissencephaly Syndrome 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