Miller-Dieker Lissencephaly Syndrome

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OMIM 53 247200 Disease Ontology 12 DOID:0060469 ICD10 32 Q04.3 Orphanet 55 ORPHA531 UMLS via Orphanet 70 C0265219 MESH via Orphanet 42 D054221

ICD10 via Orphanet 33 Q04.3 MedGen 39 C0265219 MeSH 41 D054221 SNOMED-CT via HPO 65 263681008 396232000 204878001 90708001 56108007 63567004 87979003 271611007 32958008 253251006 95515009 249321001 708670007 128306009 193570009 247053007 246799009 5639000 248409006 249729002 311897005 228156007 247578003 91138005 128613002 246545002 313307000 84757009 91175000 85102008 23024003 204036008 36440009 432788009 276617005 444896005 59576002 199612005 22033007 18735004 276369006 86203003 49601007 13213009 90145001 204043002 430969000 278849000 51118003 128490007 416286003 417338002 274521009 249310005 86414002 367506006 29271008 more UMLS 69 C0265219 C0431375

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.

Clinical features from OMIM:

247200

Search Clinical Trials , NIH Clinical Center for Miller-Dieker Lissencephaly Syndrome

Search GEO for disease gene expression data for Miller-Dieker Lissencephaly Syndrome.