Concept information
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Nervous System Malformations
Malformations of Cortical Development
Malformations of Cortical Development, Group II
Lissencephaly
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Nervous System Malformations
Malformations of Cortical Development
Malformations of Cortical Development, Group II
Lissencephaly
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Heredodegenerative Disorders, Nervous System
Mental Retardation, X-Linked
Nervous System Diseases
Neurodegenerative Diseases
Heredodegenerative Disorders, Nervous System
Mental Retardation, X-Linked
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Genetic Diseases, X-Linked
Mental Retardation, X-Linked
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Neurologic Manifestations
Neurobehavioral Manifestations
Intellectual Disability
Mental Retardation, X-Linked
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Neurologic Manifestations
Neurobehavioral Manifestations
Intellectual Disability
Mental Retardation, X-Linked
Preferred term
Classical Lissencephalies and Subcortical Band Heterotopias
Type
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Topical Descriptor
Broader concept
Entry terms
- Agyria Pachygyria Band Spectrum
- Agyria-Pachygyria-Band Spectrum
- Band Heterotopia, Lissencephaly-Subcortical
- Heterotopia, Lissencephaly-Subcortical Band
- Heterotopias, Lissencephaly-Subcortical Band
- Lissencephaly Subcortical Band Heterotopia
- Lissencephaly-Subcortical Band Heterotopia
- Lissencephaly-Subcortical Band Heterotopias
Scope note
- 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.)
History note
- 2008
In other languages
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Finnish
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klassiset lissenkefaliat ja subkortikaaliset kerrosheterotopiat
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Swedish
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Klassisk lissencefali
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Lissencefalli typ 1
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Miller-Diekers syndrom
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X-bunden lissencefali
URI
http://www.yso.fi/onto/mesh/D054221
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