MCID: MLL018
MIFTS: 47
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Miller-Dieker Lissencephaly Syndrome
Categories:
Rare diseases, Neuronal diseases, Fetal diseases
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MalaCards integrated aliases for Miller-Dieker Lissencephaly Syndrome:
Characteristics:Orphanet epidemiological data:55
miller-dieker syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal; OMIM:53
Inheritance:
autosomal dominant
Miscellaneous:
contiguous gene syndrome death often before age 2 HPO:31
miller-dieker lissencephaly syndrome:
Inheritance contiguous gene syndrome autosomal dominant inheritance Classifications:
ICD10:
32
33
External Ids:
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OMIM
:
53
Features of the Miller-Dieker syndrome include classic lissencephaly (pachygyria, incomplete or absent gyration of the cerebrum), microcephaly, wrinkled skin over the glabella and frontal suture, prominent occiput, narrow forehead, downward slanting palpebral fissures, small nose and chin, cardiac malformations, hypoplastic male extrenal genitalia, growth retardation, and mental deficiency with seizures and EEG abnormalities. Life expectancy is grossly reduced, with death most often occurring during early childhood (summary by Schinzel, 1988).
Lissencephaly means 'smooth brain,' i.e., brain without convolutions or gyri.
Deletion of or mutation in the LIS1 gene (PAFAH1B1; 601545) appears to cause the lissencephaly because point mutations have been identified in this gene in isolated lissencephaly sequence (ILS; see 607432). Facial dysmorphism and other anomalies in Miller-Dieker patients appear to be the consequence of deletion of additional genes distal to LIS1. Toyo-oka et al. (2003) presented evidence that the gene whose deletion is responsible for the greater severity of Miller-Dieker syndrome compared to isolated lissencephaly is the gene encoding 14-3-3-epsilon (YWHAE; 605066). (247200)
MalaCards based summary : Miller-Dieker Lissencephaly Syndrome, also known as miller-dieker syndrome, is related to lissencephaly and myelodysplastic syndrome, and has symptoms including ataxia, seizures and eeg abnormality. An important gene associated with Miller-Dieker Lissencephaly Syndrome is PAFAH1B1 (Platelet Activating Factor Acetylhydrolase 1b Regulatory Subunit 1), and among its related pathways/superpathways is Lissencephaly gene (LIS1) in neuronal migration and development. Affiliated tissues include brain, skin and cortex, and related phenotype is nervous system. UniProtKB/Swiss-Prot : 71 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. NIH Rare Diseases : 49 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 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. Disease Ontology : 12 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. |
Symptoms via clinical synopsis from OMIM:53Clinical features from OMIM:247200Human phenotypes related to Miller-Dieker Lissencephaly Syndrome:55 31 (show top 50) (show all 57)
UMLS symptoms related to Miller-Dieker Lissencephaly Syndrome:seizures |
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Genetic tests related to Miller-Dieker Lissencephaly Syndrome:
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MalaCards organs/tissues related to Miller-Dieker Lissencephaly Syndrome:38
Brain,
Skin,
Cortex,
Heart,
Kidney,
Temporal Lobe
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Articles related to Miller-Dieker Lissencephaly Syndrome:
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Copy number variations for Miller-Dieker Lissencephaly Syndrome from CNVD:7
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Search
GEO
for disease gene expression data for Miller-Dieker Lissencephaly Syndrome.
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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:
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