MCID: LSS009
MIFTS: 23

Lissencephaly 3 malady

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

Aliases & Classifications for Lissencephaly 3

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Aliases & Descriptions for Lissencephaly 3:

Name: Lissencephaly 3 50 23 68 25 12 66
Lis3 23 68
 
Lissencephaly Due to Tuba1a Mutation 52

Characteristics:

Orphanet epidemiological data:

52
lissencephaly due to tuba1a mutation:
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide)

HPO:

62
lissencephaly 3:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 611603
Orphanet52 ORPHA171680
ICD10 via Orphanet29 Q04.3
MedGen35 C1969029
MeSH37 D054082

Summaries for Lissencephaly 3

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UniProtKB/Swiss-Prot:68 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 ataxia, ataxia and seizures. An important gene associated with Lissencephaly 3 is TUBA1A (Tubulin Alpha 1a). Affiliated tissues include brain.

Description from OMIM:50 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

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

idRelated DiseaseScoreTop Affiliating Genes
1lissencephaly with cerebellar hypoplasia11.1

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 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

UMLS symptoms related to Lissencephaly 3:


ataxia, seizures

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 325 23 TUBA1A

Anatomical Context for Lissencephaly 3

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MalaCards organs/tissues related to Lissencephaly 3:

34
Brain

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:

68
id Symbol AA change Variation ID SNP ID
1TUBA1Ap.Ile188LeuVAR_039332rs137853045
2TUBA1Ap.Pro263ThrVAR_039333rs137853046
3TUBA1Ap.Arg264CysVAR_039334rs137853043
4TUBA1Ap.Leu286PheVAR_039335
5TUBA1Ap.Arg402CysVAR_039336rs587784483
6TUBA1Ap.Arg402HisVAR_039337rs137853044
7TUBA1Ap.Ser419LeuVAR_039338rs137853047

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 pathogenicrs587784481GRCh38Chr 12, 49185237: 49185237
2TUBA1ANM_006009.3(TUBA1A): c.1148C> T (p.Ala383Val)single nucleotide variantLikely pathogenic, Pathogenicrs587784482GRCh38Chr 12, 49185218: 49185218
3TUBA1ANM_006009.3(TUBA1A): c.1204C> A (p.Arg402Ser)single nucleotide variantLikely pathogenicrs587784483GRCh38Chr 12, 49185162: 49185162
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 variantPathogenicrs137853044GRCh38Chr 12, 49185161: 49185161
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 pathogenicrs587784486GRCh38Chr 12, 49186675: 49186675
9TUBA1ANM_006009.3(TUBA1A): c.481T> G (p.Tyr161Asp)single nucleotide variantPathogenicrs587784488GRCh38Chr 12, 49185885: 49185885
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 pathogenicrs587784492GRCh38Chr 12, 49185668: 49185668
12TUBA1ANM_006009.3(TUBA1A): c.808G> T (p.Ala270Ser)single nucleotide variantLikely pathogenicrs587784494GRCh38Chr 12, 49185558: 49185558
13TUBA1ANM_006009.3(TUBA1A): c.986A> G (p.Asn329Ser)single nucleotide variantLikely pathogenicrs587784495GRCh38Chr 12, 49185380: 49185380
14TUBA1ANM_006009.3(TUBA1A): c.995T> C (p.Ile332Thr)single nucleotide variantLikely pathogenicrs587784497GRCh38Chr 12, 49185371: 49185371
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 pathogenicrs797046072GRCh38Chr 12, 49186416: 49186416
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 pathogenicrs863224938GRCh38Chr 12, 49186333: 49186333
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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet