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 51 24 69 26 12 67
Lis3 24 69
 
Lissencephaly Due to Tuba1a Mutation 53

Characteristics:

Orphanet epidemiological data:

53
lissencephaly due to tuba1a mutation:
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide)

HPO:

63
lissencephaly 3:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM51 611603
Orphanet53 ORPHA171680
ICD10 via Orphanet30 Q04.3
MedGen36 C1969029
MeSH38 D054082

Summaries for Lissencephaly 3

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UniProtKB/Swiss-Prot:69 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:51 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 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:

 63 (show all 16)
id Description HPO Frequency HPO Source Accession
1 microcephaly63 HP:0000252
2 seizures63 HP:0001250
3 ataxia63 HP:0001251
4 muscular hypotonia63 HP:0001252
5 motor delay63 HP:0001270
6 agenesis of corpus callosum63 HP:0001274
7 pachygyria63 HP:0001302
8 cerebellar vermis hypoplasia63 HP:0001320
9 lissencephaly63 HP:0001339
10 hypoplasia of the corpus callosum63 HP:0002079
11 ventriculomegaly63 HP:0002119
12 polymicrogyria63 HP:0002126
13 heterotopia63 HP:0002282
14 hypoplasia of the brainstem63 HP:0002365
15 spastic tetraplegia63 HP:0002510
16 intellectual disability, severe63 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 326 24 TUBA1A

Anatomical Context for Lissencephaly 3

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MalaCards organs/tissues related to Lissencephaly 3:

35
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:

69
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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet