MCID: LSS009
MIFTS: 24

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 52 24 70 27 12 68
Lis3 24 70
 
Lissencephaly Due to Tuba1a Mutation 54

Characteristics:

Orphanet epidemiological data:

54
lissencephaly due to tuba1a mutation:
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide)

HPO:

64
lissencephaly 3:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 611603
Orphanet54 ORPHA171680
ICD10 via Orphanet31 Q04.3
MedGen37 C1969029
MeSH39 D054082

Summaries for Lissencephaly 3

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UniProtKB/Swiss-Prot:70 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 lissencephaly 1, and has symptoms including microcephaly, seizures and ataxia. An important gene associated with Lissencephaly 3 is TUBA1A (Tubulin Alpha 1a). Affiliated tissues include brain.

Description from OMIM:52 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 hypoplasia11.0
2lissencephaly 110.9

Symptoms & Phenotypes for Lissencephaly 3

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Symptoms by clinical synopsis from OMIM:

611603

Clinical features from OMIM:

611603

Human phenotypes related to Lissencephaly 3:

 64 (show all 16)
id Description HPO Frequency HPO Source Accession
1 microcephaly64 HP:0000252
2 seizures64 HP:0001250
3 ataxia64 HP:0001251
4 muscular hypotonia64 HP:0001252
5 motor delay64 HP:0001270
6 agenesis of corpus callosum64 HP:0001274
7 pachygyria64 HP:0001302
8 cerebellar vermis hypoplasia64 HP:0001320
9 lissencephaly64 HP:0001339
10 hypoplasia of the corpus callosum64 HP:0002079
11 ventriculomegaly64 HP:0002119
12 polymicrogyria64 HP:0002126
13 heterotopia64 HP:0002282
14 hypoplasia of the brainstem64 HP:0002365
15 spastic tetraplegia64 HP:0002510
16 intellectual disability, severe64 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 327 24 TUBA1A

Anatomical Context for Lissencephaly 3

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MalaCards organs/tissues related to Lissencephaly 3:

36
Brain

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:

70
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 30)
id Gene Variation Type Significance SNP ID Assembly Location
1TUBA1ANM_006009.3(TUBA1A): c.1129A> G (p.Met377Val)SNVLikely pathogenicrs587784481GRCh37Chr 12, 49579020: 49579020
2TUBA1ANM_006009.3(TUBA1A): c.1148C> T (p.Ala383Val)SNVLikely pathogenic, Pathogenicrs587784482GRCh37Chr 12, 49579001: 49579001
3TUBA1ANM_006009.3(TUBA1A): c.1204C> A (p.Arg402Ser)SNVLikely pathogenicrs587784483GRCh37Chr 12, 49578945: 49578945
4TUBA1ANM_006009.3(TUBA1A): c.1204C> T (p.Arg402Cys)SNVPathogenicrs587784483GRCh37Chr 12, 49578945: 49578945
5TUBA1ANM_006009.3(TUBA1A): c.1205G> T (p.Arg402Leu)SNVPathogenicrs137853044GRCh37Chr 12, 49578944: 49578944
6TUBA1ANM_006009.3(TUBA1A): c.1274T> A (p.Met425Lys)SNVLikely pathogenicrs587784484GRCh37Chr 12, 49578875: 49578875
7TUBA1ANM_006009.3(TUBA1A): c.152C> T (p.Thr51Ile)SNVLikely pathogenicrs587784485GRCh37Chr 12, 49580468: 49580468
8TUBA1ANM_006009.3(TUBA1A): c.162T> A (p.Ser54Arg)SNVLikely pathogenicrs587784486GRCh37Chr 12, 49580458: 49580458
9TUBA1ANM_006009.3(TUBA1A): c.481T> G (p.Tyr161Asp)SNVPathogenicrs587784488GRCh37Chr 12, 49579668: 49579668
10TUBA1ANM_006009.3(TUBA1A): c.5G> A (p.Arg2His)SNVLikely pathogenic, Pathogenicrs587784491GRCh37Chr 12, 49580615: 49580615
11TUBA1ANM_006009.3(TUBA1A): c.698A> G (p.Gln233Arg)SNVLikely pathogenicrs587784492GRCh37Chr 12, 49579451: 49579451
12TUBA1ANM_006009.3(TUBA1A): c.808G> T (p.Ala270Ser)SNVLikely pathogenicrs587784494GRCh37Chr 12, 49579341: 49579341
13TUBA1ANM_006009.3(TUBA1A): c.986A> G (p.Asn329Ser)SNVLikely pathogenicrs587784495GRCh37Chr 12, 49579163: 49579163
14TUBA1ANM_006009.3(TUBA1A): c.995T> C (p.Ile332Thr)SNVLikely pathogenicrs587784497GRCh37Chr 12, 49579154: 49579154
15TUBA1ANM_006009.3(TUBA1A): c.1226T> C (p.Val409Ala)SNVPathogenicrs797045005GRCh37Chr 12, 49578923: 49578923
16TUBA1ANM_006009.3(TUBA1A): c.1224C> A (p.Tyr408Ter)SNVPathogenicrs753719501GRCh37Chr 12, 49578925: 49578925
17TUBA1ANM_006009.3(TUBA1A): c.1105G> A (p.Ala369Thr)SNVLikely pathogenicrs797046071GRCh38Chr 12, 49185261: 49185261
18TUBA1ANM_006009.3(TUBA1A): c.269A> G (p.Glu90Gly)SNVLikely pathogenicrs797046072GRCh37Chr 12, 49580199: 49580199
19TUBA1ANM_006009.3(TUBA1A): c.970G> C (p.Val324Leu)SNVLikely pathogenicrs797046073GRCh38Chr 12, 49185396: 49185396
20TUBA1ANM_006009.3(TUBA1A): c.352G> A (p.Val118Met)SNVLikely pathogenicrs863224938GRCh38Chr 12, 49186333: 49186333
21TUBA1ANM_006009.3(TUBA1A): c.791G> A (p.Arg264His)SNVLikely pathogenicrs886043627GRCh37Chr 12, 49579358: 49579358
22TUBA1ANM_006009.3(TUBA1A): c.13A> C (p.Ile5Leu)SNVPathogenicrs387906840GRCh37Chr 12, 49580607: 49580607
23TUBA1ANM_006009.3(TUBA1A): c.790C> T (p.Arg264Cys)SNVPathogenicrs137853043GRCh37Chr 12, 49579359: 49579359
24TUBA1ANM_006009.3(TUBA1A): c.1205G> A (p.Arg402His)SNVPathogenicrs137853044GRCh37Chr 12, 49578944: 49578944
25TUBA1ANM_006009.3(TUBA1A): c.562A> C (p.Ile188Leu)SNVPathogenicrs137853045GRCh37Chr 12, 49579587: 49579587
26TUBA1ANM_006009.3(TUBA1A): c.787C> A (p.Pro263Thr)SNVPathogenicrs137853046GRCh37Chr 12, 49579362: 49579362
27TUBA1ANM_006009.3(TUBA1A): c.1256C> T (p.Ser419Leu)SNVPathogenicrs137853047GRCh37Chr 12, 49578893: 49578893
28TUBA1ANM_006009.3(TUBA1A): c.1190T> C (p.Leu397Pro)SNVPathogenicrs137853048GRCh37Chr 12, 49578959: 49578959
29TUBA1ANM_006009.3(TUBA1A): c.1264C> T (p.Arg422Cys)SNVPathogenicrs137853049GRCh37Chr 12, 49578885: 49578885
30TUBA1ANM_006009.3(TUBA1A): c.1265G> A (p.Arg422His)SNVPathogenicrs137853050GRCh37Chr 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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet