MCID: LSS009
MIFTS: 21

Lissencephaly 3 malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Cardiovascular diseases, Skin diseases, Fetal diseases

Aliases & Classifications for Lissencephaly 3

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Aliases & Descriptions for Lissencephaly 3:

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

Characteristics:

HPO:

61
lissencephaly 3:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 611603
MedGen34 C1969029
MeSH36 D054082
UMLS65 C1969029

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 with cerebellar hypoplasia, and has symptoms including microcephaly, seizures and ataxia. An important gene associated with Lissencephaly 3 is TUBA1A (Tubulin Alpha 1a). Affiliated tissues include skin.

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 with cerebellar hypoplasia11.5

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 16)
id Description Frequency HPO Source Accession
1 microcephaly HP:0000252
2 seizures HP:0001250
3 ataxia HP:0001251
4 muscular hypotonia HP:0001252
5 motor delay HP:0001270
6 agenesis of corpus callosum HP:0001274
7 pachygyria HP:0001302
8 cerebellar vermis hypoplasia HP:0001320
9 lissencephaly HP:0001339
10 hypoplasia of the corpus callosum HP:0002079
11 ventriculomegaly HP:0002119
12 polymicrogyria HP:0002126
13 heterotopia HP:0002282
14 hypoplasia of the brainstem HP:0002365
15 spastic tetraplegia HP:0002510
16 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 TUBA1A

Anatomical Context for Lissencephaly 3

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MalaCards organs/tissues related to Lissencephaly 3:

33
Skin

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 variantPathogenicrs587784483GRCh37Chr 12, 49578945: 49578945
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 pathogenicrs587784484GRCh37Chr 12, 49578875: 49578875
7TUBA1ANM_006009.3(TUBA1A): c.152C> T (p.Thr51Ile)single nucleotide variantLikely pathogenicrs587784485GRCh37Chr 12, 49580468: 49580468
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, Pathogenicrs587784491GRCh37Chr 12, 49580615: 49580615
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 pathogenicrs863224938GRCh37Chr 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