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Medical Subject Headings
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/MESH/D054221
http://purl.bioontology.org/ontology/MESH/D054221
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|---|---|
| Preferred Name | Classical Lissencephalies and Subcortical Band Heterotopias |
| Definitions |
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.)
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| Synonyms |
Lissencephaly Type 1s
Miller-Dieker Lissencephaly
Lissencephalies, X-Linked
Lissencephaly-Subcortical Band Heterotopia
Lissencephaly Syndrome, Miller-Dieker
Lissencephaly, Classic
X-Linked Lissencephalies
Miller-Dieker Lissencephaly Syndrome
Miller Dieker Syndrome
Lissencephaly, Type 1
Type 1, Lissencephaly
Lissencephaly, X-Linked, 1
Classical Lissencephaly Syndrome
Lissencephaly Syndrome, Miller Dieker
1s, Lissencephaly Type
Lissencephaly 1s
Band Heterotopia, Lissencephaly-Subcortical
Agyria-Pachygyria-Band Spectrum
Heterotopias, Subcortical Laminar
Lissencephaly Subcortical Band Heterotopia
Subcortical Band Heterotopia
Classical Lissencephaly Syndromes
Chromosome 17p13.3 Deletion Syndrome
Classic Lissencephalies
Classical Lissencephaly
Lissencephaly 1
Subcortical Band Heterotopias
Miller Dieker Lissencephaly Syndrome
Miller-Dieker Syndrome
Syndrome, Miller-Dieker Lissencephaly
Heterotopias, Lissencephaly-Subcortical Band
Lissencephaly Sequence, Isolated
Syndromes, Classical Lissencephaly
Lissencephaly, Miller Dieker
Heterotopias, Subcortical Band
Heterotopia, Subcortical Laminar
Lissencephaly Syndromes, Classical
Lissencephalies, Type 1
Syndrome, Classical Lissencephaly
Lissencephaly, Classical
Agyria Pachygyria Band Spectrum
Lissencephalies, Classical
Type 1s, Lissencephaly
Classic Lissencephaly
Lissencephaly, X Linked
1, Lissencephaly Type
Subcortical Laminar Heterotopia
Lissencephaly, Miller-Dieker
Lissencephalies, Classic
X Linked Lissencephaly
Classical Lissencephalies
Syndrome, Miller-Dieker
Lissencephaly Syndrome, Classical
Lissencephaly, X-Linked
Double Cortex Syndrome
Heterotopia, Lissencephaly-Subcortical Band
Lissencephaly Type 1
X-Linked Lissencephaly
Heterotopia, Subcortical Band
Isolated Lissencephaly Sequence
Syndrome, Double Cortex
1, Lissencephaly
Lissencephaly-Subcortical Band Heterotopias
Type 1 Lissencephaly
Type 1 Lissencephalies
1s, Lissencephaly
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| 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.) |
|---|---|
| altLabel |
Lissencephaly Type 1s
Miller-Dieker Lissencephaly
Lissencephalies, X-Linked
Lissencephaly-Subcortical Band Heterotopia
Lissencephaly Syndrome, Miller-Dieker
Lissencephaly, Classic
X-Linked Lissencephalies
Miller-Dieker Lissencephaly Syndrome
Miller Dieker Syndrome
Lissencephaly, Type 1
Type 1, Lissencephaly
Lissencephaly, X-Linked, 1
Classical Lissencephaly Syndrome
Lissencephaly Syndrome, Miller Dieker
1s, Lissencephaly Type
Lissencephaly 1s
Band Heterotopia, Lissencephaly-Subcortical
Agyria-Pachygyria-Band Spectrum
Heterotopias, Subcortical Laminar
Lissencephaly Subcortical Band Heterotopia
Subcortical Band Heterotopia
Classical Lissencephaly Syndromes
Chromosome 17p13.3 Deletion Syndrome
Classic Lissencephalies
Classical Lissencephaly
Lissencephaly 1
Subcortical Band Heterotopias
Miller Dieker Lissencephaly Syndrome
Miller-Dieker Syndrome
Syndrome, Miller-Dieker Lissencephaly
Heterotopias, Lissencephaly-Subcortical Band
Lissencephaly Sequence, Isolated
Syndromes, Classical Lissencephaly
Lissencephaly, Miller Dieker
Heterotopias, Subcortical Band
Heterotopia, Subcortical Laminar
Lissencephaly Syndromes, Classical
Lissencephalies, Type 1
Syndrome, Classical Lissencephaly
Lissencephaly, Classical
Agyria Pachygyria Band Spectrum
Lissencephalies, Classical
Type 1s, Lissencephaly
Classic Lissencephaly
Lissencephaly, X Linked
1, Lissencephaly Type
Subcortical Laminar Heterotopia
Lissencephaly, Miller-Dieker
Lissencephalies, Classic
X Linked Lissencephaly
Classical Lissencephalies
Syndrome, Miller-Dieker
Lissencephaly Syndrome, Classical
Lissencephaly, X-Linked
Double Cortex Syndrome
Heterotopia, Lissencephaly-Subcortical Band
Lissencephaly Type 1
X-Linked Lissencephaly
Heterotopia, Subcortical Band
Isolated Lissencephaly Sequence
Syndrome, Double Cortex
1, Lissencephaly
Lissencephaly-Subcortical Band Heterotopias
Type 1 Lissencephaly
Type 1 Lissencephalies
1s, Lissencephaly
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| prefLabel | Classical Lissencephalies and Subcortical Band Heterotopias
|
| Machine permutation | 2008
|
| HN | 2008
|
| Mapped from | |
| type | |
| tui | T047
|
| TERMUI |
T812644
T684522
T680788
T812156
T680775
T684521
T680786
T684523
T680780
T812643
T812642
T680781
T680782
T680778
T842757
T680783
T812647
T680777
T680787
T842013
T812157
T680776
T842756
T680774
T680779
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| TH |
OMIM (2013)
NLM (2008)
NLM (2013)
GHR (2014)
ORD (2010)
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| MMR | 20181010
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| notation | D054221
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| Inverse of RO | |
| Semantic type UMLS property | |
| Inverse of AQ |
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| DX | 20080101
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| cui |
C0265219
C0431375
C1848199
C4551968
C1955870
C1848201
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| DC | 1
|
| MN |
C16.320.322.500.186
C10.500.507.450.230
C16.131.666.507.450.499.230
C16.131.666.507.450.230
C10.500.507.450.499.230
|
| AQL | BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
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| MDA | 20061024
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| subClassOf |
| Delete | Subject | Author | Type | Created |
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| No notes to display |