loading...| Preferred Name |
Classical Lissencephalies and Subcortical Band Heterotopias |
|
| Synonyms |
Lissencephaly Type 1s |
|
| 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.) |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D054221 |
|
| 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 |
|
| 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 |
|
| cui |
C0265219 C0431375 C1848199 C4551968 C1955870 C1848201 |
|
| DC |
1 |
|
| 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.) |
|
| DX |
20080101 |
|
| HN |
2008 |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Inverse of RO | ||
| Machine permutation |
2008 |
|
| Mapped from |
http://purl.bioontology.org/ontology/MESH/C564722 http://purl.bioontology.org/ontology/MESH/C564563 http://purl.bioontology.org/ontology/MESH/C531731 |
|
| MDA |
20070709 |
|
| MMR |
20181010 |
|
| 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 |
|
| notation |
D054221 |
|
| prefLabel |
Classical Lissencephalies and Subcortical Band Heterotopias |
|
| 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 |
|
| TH |
OMIM (2013) NLM (2008) NLM (2013) GHR (2014) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |
http://purl.bioontology.org/ontology/MESH/D038901 |