MCID: LSS009
MIFTS: 25

Lissencephaly 3 malady

Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases categories

Aliases & Classifications for Lissencephaly 3

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Aliases & Descriptions for Lissencephaly 3:

Name: Lissencephaly 3 49 11 22 24 65 67
 
Lis3 22 67


Classifications:



External Ids:

OMIM49 611603
MedGen34 C1969029
MeSH36 D054082

Summaries for Lissencephaly 3

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UniProtKB/Swiss-Prot:67 Lissencephaly 3: A classic type lissencephaly associated with psychomotor retardation and seizures. Features include agyria or pachygyria or laminar heterotopia, severe mental retardation, motor delay, variable presence of seizures, and abnormalities of corpus callosum, hippocampus, cerebellar vermis and brainstem.

MalaCards based summary: Lissencephaly 3, also known as lis3, is related to lissencephaly 1 and langerhans-cell histiocytosis, and has symptoms including autosomal dominant inheritance, microcephaly and seizures. An important gene associated with Lissencephaly 3 is TUBA1A (Tubulin, Alpha 1a).

Description from OMIM:49 611603

Related Diseases for Lissencephaly 3

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Diseases in the Lissencephaly family:

Lissencephaly 2 Lissencephaly 5
lissencephaly 3 Lissencephaly 4
Lissencephaly 1 Dcx-Related Lissencephaly
Lissencephaly Due to Tuba1a Mutation Lissencephaly Type 1 Due to Doublecortin Gene Mutation
Lissencephaly Due to Lis1 Mutation

Diseases related to Lissencephaly 3 via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1lissencephaly 110.1
2langerhans-cell histiocytosis10.1
3lissencephaly with cerebellar hypoplasia10.1

Symptoms for Lissencephaly 3

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Symptoms by clinical synopsis from OMIM:

611603

Clinical features from OMIM:

611603

HPO human phenotypes related to Lissencephaly 3:

(show all 17)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 microcephaly HP:0000252
3 seizures HP:0001250
4 ataxia HP:0001251
5 muscular hypotonia HP:0001252
6 motor delay HP:0001270
7 agenesis of corpus callosum HP:0001274
8 pachygyria HP:0001302
9 cerebellar vermis hypoplasia HP:0001320
10 lissencephaly HP:0001339
11 hypoplasia of the corpus callosum HP:0002079
12 ventriculomegaly HP:0002119
13 polymicrogyria HP:0002126
14 heterotopia HP:0002282
15 hypoplasia of the brainstem HP:0002365
16 spastic tetraplegia HP:0002510
17 intellectual disability, severe HP:0010864

Drugs & Therapeutics for Lissencephaly 3

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Lissencephaly 3

Genetic Tests for Lissencephaly 3

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Genetic tests related to Lissencephaly 3:

id Genetic test Affiliating Genes
1 Lissencephaly 322 24 TUBA1A

Anatomical Context for Lissencephaly 3

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Animal Models for Lissencephaly 3 or affiliated genes

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Publications for Lissencephaly 3

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Variations for Lissencephaly 3

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UniProtKB/Swiss-Prot genetic disease variations for Lissencephaly 3:

67
id Symbol AA change Variation ID SNP ID
1TUBA1Ap.Ile188LeuVAR_039332
2TUBA1Ap.Pro263ThrVAR_039333
3TUBA1Ap.Arg264CysVAR_039334
4TUBA1Ap.Leu286PheVAR_039335
5TUBA1Ap.Arg402CysVAR_039336
6TUBA1Ap.Arg402HisVAR_039337
7TUBA1Ap.Ser419LeuVAR_039338

Clinvar genetic disease variations for Lissencephaly 3:

5 (show all 29)
id Gene Variation Type Significance SNP ID Assembly Location
1TUBA1ANM_006009.3(TUBA1A): c.1129A> G (p.Met377Val)single nucleotide variantLikely pathogenicrs587784481GRCh37Chr 12, 49579020: 49579020
2TUBA1ANM_006009.3(TUBA1A): c.1148C> T (p.Ala383Val)single nucleotide variantLikely pathogenic, Pathogenicrs587784482GRCh37Chr 12, 49579001: 49579001
3TUBA1ANM_006009.3(TUBA1A): c.1204C> A (p.Arg402Ser)single nucleotide variantLikely pathogenicrs587784483GRCh37Chr 12, 49578945: 49578945
4TUBA1ANM_006009.3(TUBA1A): c.1204C> T (p.Arg402Cys)single nucleotide variantPathogenicrs587784483GRCh38Chr 12, 49185162: 49185162
5TUBA1ANM_006009.3(TUBA1A): c.1205G> T (p.Arg402Leu)single nucleotide variantPathogenicrs137853044GRCh37Chr 12, 49578944: 49578944
6TUBA1ANM_006009.3(TUBA1A): c.1274T> A (p.Met425Lys)single nucleotide variantLikely pathogenicrs587784484GRCh38Chr 12, 49185092: 49185092
7TUBA1ANM_006009.3(TUBA1A): c.152C> T (p.Thr51Ile)single nucleotide variantLikely pathogenicrs587784485GRCh38Chr 12, 49186685: 49186685
8TUBA1ANM_006009.3(TUBA1A): c.162T> A (p.Ser54Arg)single nucleotide variantLikely pathogenicrs587784486GRCh37Chr 12, 49580458: 49580458
9TUBA1ANM_006009.3(TUBA1A): c.481T> G (p.Tyr161Asp)single nucleotide variantPathogenicrs587784488GRCh37Chr 12, 49579668: 49579668
10TUBA1ANM_006009.3(TUBA1A): c.5G> A (p.Arg2His)single nucleotide variantLikely pathogenic, Pathogenicrs587784491GRCh38Chr 12, 49186832: 49186832
11TUBA1ANM_006009.3(TUBA1A): c.698A> G (p.Gln233Arg)single nucleotide variantLikely pathogenicrs587784492GRCh37Chr 12, 49579451: 49579451
12TUBA1ANM_006009.3(TUBA1A): c.808G> T (p.Ala270Ser)single nucleotide variantLikely pathogenicrs587784494GRCh37Chr 12, 49579341: 49579341
13TUBA1ANM_006009.3(TUBA1A): c.986A> G (p.Asn329Ser)single nucleotide variantLikely pathogenicrs587784495GRCh37Chr 12, 49579163: 49579163
14TUBA1ANM_006009.3(TUBA1A): c.995T> C (p.Ile332Thr)single nucleotide variantLikely pathogenicrs587784497GRCh37Chr 12, 49579154: 49579154
15TUBA1ANM_006009.3(TUBA1A): c.1226T> C (p.Val409Ala)single nucleotide variantPathogenicrs797045005GRCh37Chr 12, 49578923: 49578923
16TUBA1ANM_006009.3(TUBA1A): c.1224C> A (p.Tyr408Ter)single nucleotide variantPathogenicrs753719501GRCh37Chr 12, 49578925: 49578925
17TUBA1ANM_006009.3(TUBA1A): c.1105G> A (p.Ala369Thr)single nucleotide variantLikely pathogenicrs797046071GRCh37Chr 12, 49579044: 49579044
18TUBA1ANM_006009.3(TUBA1A): c.269A> G (p.Glu90Gly)single nucleotide variantLikely pathogenicrs797046072GRCh37Chr 12, 49580199: 49580199
19TUBA1ANM_006009.3(TUBA1A): c.970G> C (p.Val324Leu)single nucleotide variantLikely pathogenicrs797046073GRCh38Chr 12, 49185396: 49185396
20TUBA1ANM_006009.3(TUBA1A): c.352G> A (p.Val118Met)single nucleotide variantLikely pathogenicGRCh37Chr 12, 49580116: 49580116
21TUBA1ANM_006009.3(TUBA1A): c.13A> C (p.Ile5Leu)single nucleotide variantPathogenicrs387906840GRCh37Chr 12, 49580607: 49580607
22TUBA1ANM_006009.3(TUBA1A): c.790C> T (p.Arg264Cys)single nucleotide variantPathogenicrs137853043GRCh37Chr 12, 49579359: 49579359
23TUBA1ANM_006009.3(TUBA1A): c.1205G> A (p.Arg402His)single nucleotide variantPathogenicrs137853044GRCh37Chr 12, 49578944: 49578944
24TUBA1ANM_006009.3(TUBA1A): c.562A> C (p.Ile188Leu)single nucleotide variantPathogenicrs137853045GRCh37Chr 12, 49579587: 49579587
25TUBA1ANM_006009.3(TUBA1A): c.787C> A (p.Pro263Thr)single nucleotide variantPathogenicrs137853046GRCh37Chr 12, 49579362: 49579362
26TUBA1ANM_006009.3(TUBA1A): c.1256C> T (p.Ser419Leu)single nucleotide variantPathogenicrs137853047GRCh37Chr 12, 49578893: 49578893
27TUBA1ANM_006009.3(TUBA1A): c.1190T> C (p.Leu397Pro)single nucleotide variantPathogenicrs137853048GRCh37Chr 12, 49578959: 49578959
28TUBA1ANM_006009.3(TUBA1A): c.1264C> T (p.Arg422Cys)single nucleotide variantPathogenicrs137853049GRCh37Chr 12, 49578885: 49578885
29TUBA1ANM_006009.3(TUBA1A): c.1265G> A (p.Arg422His)single nucleotide variantPathogenicrs137853050GRCh37Chr 12, 49578884: 49578884

Expression for genes affiliated with Lissencephaly 3

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Search GEO for disease gene expression data for Lissencephaly 3.

Pathways for genes affiliated with Lissencephaly 3

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GO Terms for genes affiliated with Lissencephaly 3

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Sources for Lissencephaly 3

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet