classical lissencephalies and subcortical band heterotopias

Preferred Label : classical lissencephalies and subcortical band heterotopias;

MeSH definition : Disorders comprising a spectrum of brain malformations representing the paradigm of a diffuse neuronal migration disorder. They result in cognitive impairment; SEIZURES; and HYPOTONIA or spasticity. Mutations of two genes, LIS1, the gene for the non-catalytic subunit of PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE IB; and DCX or XLIS, the gene for doublecortin, have been identified as the most common causes of disorders in this spectrum. Additional variants of classical (Type I) lissencephaly have been linked to RELN, the gene for reelin, and ARX, the gene for aristaless related homeobox protein. (From Leventer, R.J., et al, Mol Med Today. 2000 Jul;6(7):277-84 and Barkovich, A.J., et al, Neurology. 2005 Dec 27;65(12):1873-87.);

MeSH synonym : lissencephaly-subcortical band heterotopia; lissencephaly subcortical band heterotopia; heterotopia, lissencephaly-subcortical band; band heterotopia, lissencephaly-subcortical; agyria-pachygyria-band spectrum; agyria pachygyria band spectrum; heterotopias, lissencephaly-subcortical band; lissencephaly-subcortical band heterotopias;

MeSH hyponym : X-Linked lissencephaly; lissencephalies, classical; subcortical band heterotopia; lissencephaly syndrome, Miller-Dieker; Lissencephaly Syndrome, Miller Dieker; Syndrome, Miller-Dieker Lissencephaly; Miller-Dieker Lissencephaly Syndrome; Miller Dieker Lissencephaly Syndrome; Lissencephaly, Miller-Dieker; Lissencephaly, Miller Dieker; Miller-Dieker Lissencephaly; Miller-Dieker Syndrome; Miller Dieker Syndrome; Syndrome, Miller-Dieker; Chromosome 17p13.3 Deletion Syndrome; Lissencephalies, X-Linked; X Linked Lissencephaly; X-Linked Lissencephalies; Lissencephaly, X-Linked, 1; Lissencephaly, X-Linked; Lissencephaly, X Linked; Classical Lissencephalies; Classical Lissencephaly; Lissencephaly, Classical; Lissencephaly 1; Lissencephaly Sequence, Isolated; Lissencephaly Type 1; Lissencephaly, Type 1; Lissencephalies, Type 1; Type 1 Lissencephalies; Type 1 Lissencephaly; Classical Lissencephaly Syndrome; Classic Lissencephaly; Isolated Lissencephaly Sequence; Lissencephaly, Classic; Heterotopias, Subcortical Band; Subcortical Band Heterotopias; Double Cortex Syndrome; Syndrome, Double Cortex; Heterotopia, Subcortical Band; Subcortical Laminar Heterotopia; Heterotopia, Subcortical Laminar; Heterotopias, Subcortical Laminar; 1, Lissencephaly; 1s, Lissencephaly; Lissencephaly 1s; 1, Lissencephaly Type; 1s, Lissencephaly Type; Lissencephaly Type 1s; Type 1, Lissencephaly; Type 1s, Lissencephaly; Classical Lissencephaly Syndromes; Lissencephaly Syndrome, Classical; Lissencephaly Syndromes, Classical; Syndrome, Classical Lissencephaly; Syndromes, Classical Lissencephaly; Classic Lissencephalies; Lissencephalies, Classic;

Details

Origin ID

D054221;

UMLS CUI

C1955870;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Classic lissencephaly [ORDO Disease]
- Classical Lissencephaly [NCIt concept]
- DCX wt Allele [NCIt concept]
- Double Cortex Syndrome [NCIt concept]
- Double cortex syndrome [MedDRA Preferred Term]
- Lissencephaly 1 [OMIM Phenotype]
- Lissencephaly, X-linked, 1 [OMIM Phenotype]
- Miller-Dieker syndrome [MedDRA LLT]
- Miller-Dieker syndrome [ORDO Disease]
- Miller-dieker lissencephaly syndrome [OMIM Phenotype]
- Subcortical band heterotopia [ICD-11 More detail]
- Subcortical band heterotopia [HPO term]
- Subcortical band heterotopia [ORDO Disease]
- Type 1 lissencephaly (disorder) [SNOMED CT concept]
- X-linked lissencephaly 1 [DO Concept]
- lissencephaly 1 [DO Concept]
- miller-dieker syndrome [SNOMED Notion]
- subcortical band heterotopia [DO Concept]
DO Cross reference
- Miller-Dieker lissencephaly syndrome [DO Concept]
- chromosome 17p13.1 deletion syndrome [DO Concept]
- subcortical band heterotopia [DO Concept]
HPO term
- 4-layered lissencephaly [HPO term]
Manual BTNT mappings - CISMeF
- Isolated lissencephaly type 1 without known genetic defects [ORDO Disease]
- Lissencephaly type 1 due to doublecortin gene mutation [ORDO Disease]
- Lissencephaly with cerebellar hypoplasia type B [ORDO Disease]
- Microlissencephaly [ORDO Disease]
- X-linked lissencephaly with abnormal genitalia [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Chromosomal anomaly with epilepsy as a major feature [ORDO Disease]
- Non-syndromic cerebral malformation due to abnormal neuronal migration [ORDO Disease]
ORDO relation(s)
- Miller-Dieker syndrome [ORDO Disease]
Record concept(s)
- Lissencephaly, X-Linked, 1 [MeSH concept]
- X-Linked lissencephaly [MeSH concept]
- classical lissencephalies and subcortical band heterotopias [MeSH concept]
- lissencephalies, classical [MeSH concept]
- lissencephaly syndrome, Miller-Dieker [MeSH concept]
- subcortical band heterotopia [MeSH concept]
Related MeSH Supplementary Concept(s)
- band heterotopia of brain [MeSH Supplementary Concept]
- double cortex [MeSH Supplementary Concept]
- lissencephaly and agenesis of corpus callosum [MeSH Supplementary Concept]
- lissencephaly, X-Linked, 2 [MeSH Supplementary Concept]
- subcortical band heterotopia, X-Linked [MeSH Supplementary Concept]
See also
- Doublecortin Protein [MeSH Descriptor]
See also inter- (CISMeF)
- double cortex syndrome [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to BTNT
- 4-layered lissencephaly [HPO term]
- Classic lissencephaly [ICD-11 More detail]
- Classical Lissencephaly [NCIt concept]
- Miller Dieker lissencephaly syndrome [Disease (Nov.)]
- Miller Dieker syndrome (disorder) [SNOMED CT concept]
- Miller-Dieker Syndrome [NCIt concept]
- Miller-Dieker lissencephaly syndrome [DO Concept]
- Miller-Dieker syndrome [ICD-11 More detail]
- Type 1 lissencephaly (disorder) [SNOMED CT concept]
- lissencephaly 1 [Disease (Nov.)]

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