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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Classical Lissencephalies and Subcortical Band Heterotopias
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Accession:DOID:9008500 term browser browse the term
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.)
Synonyms:exact_synonym: Classic Lissencephaly;   Classical Lissencephaly;   Classical Lissencephaly Syndrome;   Heterotopias, Subcortical Laminar;   Isolated Lissencephaly Sequence;   Lissencephaly Subcortical Band Heterotopia;   X-linked lissencephalies;   X-linked lissencephaly;   XLIS;   agyria pachygyria band spectrum;   classical lissencephalies;   lissencephaly-subcortical band heterotopias
 narrow_synonym: LISSENCEPHALY AND AGENESIS OF CORPUS CALLOSUM SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED;   SBH;   SCLH
 primary_id: MESH:D054221


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Classical Lissencephalies and Subcortical Band Heterotopias term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcx doublecortin ISO DNA:missense mutation:exon:p.D262G (c.785A>G) (human)
ClinVar Annotator: match by term: Lissencephaly, X-linked
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:exon:p.A71S (211G>T) (human)
DNA:missense mutations: :multiple		 ClinVar
CTD
RGD		 PMID:11175293 PMID:11468322 PMID:18414213 PMID:18685874 PMID:23365099 More... RGD:11568595, RGD:12904735, RGD:12904728 NCBI chr  X:142,638,838...142,716,392
Ensembl chr  X:142,638,838...142,716,307 		JBrowse link
G Lamb1 laminin B1 ISO ClinVar Annotator: match by term: Classic lissencephaly ClinVar NCBI chr12:31,315,230...31,379,643
Ensembl chr12:31,315,233...31,379,643 		JBrowse link
G Mnt max binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:15028671 NCBI chr11:74,721,651...74,736,551
Ensembl chr11:74,721,746...74,736,551 		JBrowse link
G Pafah1b1 platelet-activating factor acetylhydrolase, isoform 1b, subunit 1 ISO ClinVar Annotator: match by term: Lissencephaly/Subcortical Band Heterotopia ClinVar NCBI chr11:74,564,775...74,615,210
Ensembl chr11:74,564,775...74,615,496 		JBrowse link
Lissencephaly and Agenesis of Corpus Callosum term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcx doublecortin ISO ClinVar Annotator: match by term: Subcortical laminar heterotopia, X-linked ClinVar PMID:9489699 PMID:9489700 PMID:10441340 PMID:10749977 PMID:11175293 More... NCBI chr  X:142,638,838...142,716,392
Ensembl chr  X:142,638,838...142,716,307 		JBrowse link
subcortical band heterotopia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcx doublecortin ISO DNA:missense mutation, nonsense mutations:exon:p.R186C (556C>T), p.R272X (814C>T), p.R303X (907C>T) (human)
ClinVar Annotator: match by term: Subcortical band heterotopia		 ClinVar
RGD		 PMID:10915612 PMID:25140959 PMID:25741868 PMID:28953922 PMID:10369164 RGD:12904717 NCBI chr  X:142,638,838...142,716,392
Ensembl chr  X:142,638,838...142,716,307 		JBrowse link
G Eml1 echinoderm microtubule associated protein like 1 ISO
IAGP		 ClinVar Annotator: match by term: Band heterotopia of brain
CTD Direct Evidence: marker/mechanism
OMIM:600348		 OMIM
ClinVar
CTD
MouseDO		 PMID:24859200 PMID:25741868 PMID:25741915 PMID:28492532 PMID:28556411 NCBI chr12:108,337,265...108,505,835
Ensembl chr12:108,337,216...108,505,876 		JBrowse link
G Pafah1b1 platelet-activating factor acetylhydrolase, isoform 1b, subunit 1 ISO ClinVar Annotator: match by term: Subcortical band heterotopia ClinVar PMID:1671808 PMID:10441340 PMID:11115846 PMID:11502906 PMID:14581661 More... NCBI chr11:74,564,775...74,615,210
Ensembl chr11:74,564,775...74,615,496 		JBrowse link
Subcortical Band Heterotopia, X-Linked term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcx doublecortin ISO DNA:deletions
DNA:nonsense mutation: :p.R186C (971C>T) (human)		 RGD PMID:19050731 PMID:19098909 PMID:9618162 RGD:12904718, RGD:12904725, RGD:12904762 NCBI chr  X:142,638,838...142,716,392
Ensembl chr  X:142,638,838...142,716,307 		JBrowse link
X-linked lissencephaly 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcx doublecortin ISO ClinVar Annotator: match by term: Lissencephaly type 1 due to doublecortin gene mutation OMIM
ClinVar		 PMID:9489699 PMID:9489700 PMID:9618162 PMID:10369164 PMID:10749977 More... NCBI chr  X:142,638,838...142,716,392
Ensembl chr  X:142,638,838...142,716,307 		JBrowse link
X-linked lissencephaly 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arx aristaless related homeobox ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hydranencephaly with abnormal genitalia | ClinVar Annotator: match by term: X-linked lissencephaly with abnormal genitalia
DNA:mutations:multiple (human)		 OMIM
CTD
ClinVar
RGD		 PMID:11889467 PMID:11891829 PMID:12379852 PMID:12874405 PMID:12874418 More... RGD:11565832 NCBI chr  X:92,330,113...92,341,963
Ensembl chr  X:92,330,051...92,341,963 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18302
    physical disorder 5003
      congenital nervous system abnormality 1499
        lissencephaly 114
          Classical Lissencephalies and Subcortical Band Heterotopias 6
            Lissencephaly and Agenesis of Corpus Callosum 1
            Subcortical Band Heterotopia, X-Linked 1
            X-linked lissencephaly 1 1
            X-linked lissencephaly 2 1
            subcortical band heterotopia 3
Path 2
Term Annotations click to browse term
  disease 18302
    disease of anatomical entity 15634
      nervous system disease 13506
        central nervous system disease 12088
          brain disease 11347
            disease of mental health 8203
              developmental disorder of mental health 5589
                specific developmental disorder 4536
                  intellectual disability 4336
                    X-Linked Intellectual Developmental Disorders 813
                      Classical Lissencephalies and Subcortical Band Heterotopias 6
                        Lissencephaly and Agenesis of Corpus Callosum 1
                        Subcortical Band Heterotopia, X-Linked 1
                        X-linked lissencephaly 1 1
                        X-linked lissencephaly 2 1
                        subcortical band heterotopia 3
paths to the root