MCID: LSS009
MIFTS: 22

Lissencephaly 3

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

Aliases & Classifications for Lissencephaly 3

MalaCards integrated aliases for Lissencephaly 3:

Name: Lissencephaly 3 57 75 29 13 6 73
Lis3 57 75
Lissencephaly Due to Tuba1a Mutation 59
Lissencephaly, Type 3 40

Characteristics:

Orphanet epidemiological data:

59
lissencephaly due to tuba1a mutation
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide);

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation (in most patients)


HPO:

32
lissencephaly 3:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Lissencephaly 3

UniProtKB/Swiss-Prot : 75 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 and seizures. An important gene associated with Lissencephaly 3 is TUBA1A (Tubulin Alpha 1a). Affiliated tissues include brain, and related phenotypes are microcephaly and seizures

Description from OMIM: 611603

Related Diseases for Lissencephaly 3

Diseases in the Lissencephaly family:

Lissencephaly 2 Lissencephaly 1
Lissencephaly 3 Lissencephaly 4
Lissencephaly 5 Lissencephaly 8

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

# Related Disease Score Top Affiliating Genes
1 lissencephaly with cerebellar hypoplasia 11.1

Symptoms & Phenotypes for Lissencephaly 3

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
ataxia
spastic tetraplegia
polymicrogyria
lissencephaly
more
Head And Neck Head:
microcephaly


Clinical features from OMIM:

611603

Human phenotypes related to Lissencephaly 3:

32 (show all 15)
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 HP:0000252
2 seizures 32 HP:0001250
3 ataxia 32 HP:0001251
4 motor delay 32 HP:0001270
5 agenesis of corpus callosum 32 HP:0001274
6 generalized hypotonia 32 HP:0001290
7 pachygyria 32 HP:0001302
8 cerebellar vermis hypoplasia 32 HP:0001320
9 hypoplasia of the corpus callosum 32 HP:0002079
10 ventriculomegaly 32 HP:0002119
11 polymicrogyria 32 HP:0002126
12 heterotopia 32 HP:0002282
13 hypoplasia of the brainstem 32 HP:0002365
14 spastic tetraplegia 32 HP:0002510
15 intellectual disability, severe 32 HP:0010864

UMLS symptoms related to Lissencephaly 3:


ataxia, seizures

Drugs & Therapeutics for Lissencephaly 3

Search Clinical Trials , NIH Clinical Center for Lissencephaly 3

Genetic Tests for Lissencephaly 3

Genetic tests related to Lissencephaly 3:

# Genetic test Affiliating Genes
1 Lissencephaly 3 29 TUBA1A

Anatomical Context for Lissencephaly 3

MalaCards organs/tissues related to Lissencephaly 3:

41
Brain

Publications for Lissencephaly 3

Variations for Lissencephaly 3

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

75
# Symbol AA change Variation ID SNP ID
1 TUBA1A p.Ile188Leu VAR_039332 rs137853045
2 TUBA1A p.Pro263Thr VAR_039333 rs137853046
3 TUBA1A p.Arg264Cys VAR_039334 rs137853043
4 TUBA1A p.Leu286Phe VAR_039335
5 TUBA1A p.Arg402Cys VAR_039336 rs587784483
6 TUBA1A p.Arg402His VAR_039337 rs137853044
7 TUBA1A p.Ser419Leu VAR_039338 rs137853047
8 TUBA1A p.Arg402Leu VAR_078711 rs137853044

ClinVar genetic disease variations for Lissencephaly 3:

6
(show top 50) (show all 84)
# Gene Variation Type Significance SNP ID Assembly Location
1 TUBA1A NM_006009.3(TUBA1A): c.790C> T (p.Arg264Cys) single nucleotide variant Pathogenic rs137853043 GRCh37 Chromosome 12, 49579359: 49579359
2 TUBA1A NM_006009.3(TUBA1A): c.790C> T (p.Arg264Cys) single nucleotide variant Pathogenic rs137853043 GRCh38 Chromosome 12, 49185576: 49185576
3 TUBA1A NM_006009.3(TUBA1A): c.1205G> A (p.Arg402His) single nucleotide variant Pathogenic rs137853044 GRCh37 Chromosome 12, 49578944: 49578944
4 TUBA1A NM_006009.3(TUBA1A): c.1205G> A (p.Arg402His) single nucleotide variant Pathogenic rs137853044 GRCh38 Chromosome 12, 49185161: 49185161
5 TUBA1A NM_006009.3(TUBA1A): c.562A> C (p.Ile188Leu) single nucleotide variant Pathogenic rs137853045 GRCh37 Chromosome 12, 49579587: 49579587
6 TUBA1A NM_006009.3(TUBA1A): c.562A> C (p.Ile188Leu) single nucleotide variant Pathogenic rs137853045 GRCh38 Chromosome 12, 49185804: 49185804
7 TUBA1A NM_006009.3(TUBA1A): c.787C> A (p.Pro263Thr) single nucleotide variant Pathogenic rs137853046 GRCh37 Chromosome 12, 49579362: 49579362
8 TUBA1A NM_006009.3(TUBA1A): c.787C> A (p.Pro263Thr) single nucleotide variant Pathogenic rs137853046 GRCh38 Chromosome 12, 49185579: 49185579
9 TUBA1A NM_006009.3(TUBA1A): c.1256C> T (p.Ser419Leu) single nucleotide variant Pathogenic rs137853047 GRCh37 Chromosome 12, 49578893: 49578893
10 TUBA1A NM_006009.3(TUBA1A): c.1256C> T (p.Ser419Leu) single nucleotide variant Pathogenic rs137853047 GRCh38 Chromosome 12, 49185110: 49185110
11 TUBA1A NM_006009.3(TUBA1A): c.1190T> C (p.Leu397Pro) single nucleotide variant Pathogenic rs137853048 GRCh37 Chromosome 12, 49578959: 49578959
12 TUBA1A NM_006009.3(TUBA1A): c.1190T> C (p.Leu397Pro) single nucleotide variant Pathogenic rs137853048 GRCh38 Chromosome 12, 49185176: 49185176
13 TUBA1A NM_006009.3(TUBA1A): c.1264C> T (p.Arg422Cys) single nucleotide variant Pathogenic rs137853049 GRCh37 Chromosome 12, 49578885: 49578885
14 TUBA1A NM_006009.3(TUBA1A): c.1264C> T (p.Arg422Cys) single nucleotide variant Pathogenic rs137853049 GRCh38 Chromosome 12, 49185102: 49185102
15 TUBA1A NM_006009.3(TUBA1A): c.1265G> A (p.Arg422His) single nucleotide variant Pathogenic rs137853050 GRCh37 Chromosome 12, 49578884: 49578884
16 TUBA1A NM_006009.3(TUBA1A): c.1265G> A (p.Arg422His) single nucleotide variant Pathogenic rs137853050 GRCh38 Chromosome 12, 49185101: 49185101
17 TUBA1A NM_006009.3(TUBA1A): c.13A> C (p.Ile5Leu) single nucleotide variant Pathogenic rs387906840 GRCh37 Chromosome 12, 49580607: 49580607
18 TUBA1A NM_006009.3(TUBA1A): c.13A> C (p.Ile5Leu) single nucleotide variant Pathogenic rs387906840 GRCh38 Chromosome 12, 49186824: 49186824
19 TUBA1A NM_006009.3(TUBA1A): c.1274T> A (p.Met425Lys) single nucleotide variant Likely pathogenic rs587784484 GRCh37 Chromosome 12, 49578875: 49578875
20 TUBA1A NM_006009.3(TUBA1A): c.1274T> A (p.Met425Lys) single nucleotide variant Likely pathogenic rs587784484 GRCh38 Chromosome 12, 49185092: 49185092
21 TUBA1A NM_006009.3(TUBA1A): c.1205G> T (p.Arg402Leu) single nucleotide variant Pathogenic rs137853044 GRCh37 Chromosome 12, 49578944: 49578944
22 TUBA1A NM_006009.3(TUBA1A): c.1205G> T (p.Arg402Leu) single nucleotide variant Pathogenic rs137853044 GRCh38 Chromosome 12, 49185161: 49185161
23 TUBA1A NM_006009.3(TUBA1A): c.1204C> T (p.Arg402Cys) single nucleotide variant Pathogenic rs587784483 GRCh37 Chromosome 12, 49578945: 49578945
24 TUBA1A NM_006009.3(TUBA1A): c.1204C> T (p.Arg402Cys) single nucleotide variant Pathogenic rs587784483 GRCh38 Chromosome 12, 49185162: 49185162
25 TUBA1A NM_006009.3(TUBA1A): c.1204C> A (p.Arg402Ser) single nucleotide variant Likely pathogenic rs587784483 GRCh37 Chromosome 12, 49578945: 49578945
26 TUBA1A NM_006009.3(TUBA1A): c.1204C> A (p.Arg402Ser) single nucleotide variant Likely pathogenic rs587784483 GRCh38 Chromosome 12, 49185162: 49185162
27 TUBA1A NM_006009.3(TUBA1A): c.1148C> T (p.Ala383Val) single nucleotide variant Likely pathogenic rs587784482 GRCh37 Chromosome 12, 49579001: 49579001
28 TUBA1A NM_006009.3(TUBA1A): c.1148C> T (p.Ala383Val) single nucleotide variant Likely pathogenic rs587784482 GRCh38 Chromosome 12, 49185218: 49185218
29 TUBA1A NM_006009.3(TUBA1A): c.1129A> G (p.Met377Val) single nucleotide variant Likely pathogenic rs587784481 GRCh37 Chromosome 12, 49579020: 49579020
30 TUBA1A NM_006009.3(TUBA1A): c.1129A> G (p.Met377Val) single nucleotide variant Likely pathogenic rs587784481 GRCh38 Chromosome 12, 49185237: 49185237
31 TUBA1A NM_006009.3(TUBA1A): c.995T> C (p.Ile332Thr) single nucleotide variant Likely pathogenic rs587784497 GRCh37 Chromosome 12, 49579154: 49579154
32 TUBA1A NM_006009.3(TUBA1A): c.995T> C (p.Ile332Thr) single nucleotide variant Likely pathogenic rs587784497 GRCh38 Chromosome 12, 49185371: 49185371
33 TUBA1A NM_006009.3(TUBA1A): c.991G> A (p.Ala331Thr) single nucleotide variant Uncertain significance rs587784496 GRCh37 Chromosome 12, 49579158: 49579158
34 TUBA1A NM_006009.3(TUBA1A): c.991G> A (p.Ala331Thr) single nucleotide variant Uncertain significance rs587784496 GRCh38 Chromosome 12, 49185375: 49185375
35 TUBA1A NM_006009.3(TUBA1A): c.986A> G (p.Asn329Ser) single nucleotide variant Pathogenic rs587784495 GRCh37 Chromosome 12, 49579163: 49579163
36 TUBA1A NM_006009.3(TUBA1A): c.986A> G (p.Asn329Ser) single nucleotide variant Pathogenic rs587784495 GRCh38 Chromosome 12, 49185380: 49185380
37 TUBA1A NM_006009.3(TUBA1A): c.808G> T (p.Ala270Ser) single nucleotide variant Likely pathogenic rs587784494 GRCh37 Chromosome 12, 49579341: 49579341
38 TUBA1A NM_006009.3(TUBA1A): c.808G> T (p.Ala270Ser) single nucleotide variant Likely pathogenic rs587784494 GRCh38 Chromosome 12, 49185558: 49185558
39 TUBA1A NM_006009.3(TUBA1A): c.758C> G (p.Thr253Arg) single nucleotide variant Uncertain significance rs587784493 GRCh37 Chromosome 12, 49579391: 49579391
40 TUBA1A NM_006009.3(TUBA1A): c.758C> G (p.Thr253Arg) single nucleotide variant Uncertain significance rs587784493 GRCh38 Chromosome 12, 49185608: 49185608
41 TUBA1A NM_006009.3(TUBA1A): c.698A> G (p.Gln233Arg) single nucleotide variant Likely pathogenic rs587784492 GRCh37 Chromosome 12, 49579451: 49579451
42 TUBA1A NM_006009.3(TUBA1A): c.698A> G (p.Gln233Arg) single nucleotide variant Likely pathogenic rs587784492 GRCh38 Chromosome 12, 49185668: 49185668
43 TUBA1A NM_006009.3(TUBA1A): c.562_564dupATC (p.Ile188_Leu189insIle) duplication Uncertain significance rs587784490 GRCh38 Chromosome 12, 49185802: 49185804
44 TUBA1A NM_006009.3(TUBA1A): c.562_564dupATC (p.Ile188_Leu189insIle) duplication Uncertain significance rs587784490 GRCh37 Chromosome 12, 49579585: 49579587
45 TUBA1A NM_006009.3(TUBA1A): c.521C> T (p.Ala174Val) single nucleotide variant Likely pathogenic rs587784489 GRCh37 Chromosome 12, 49579628: 49579628
46 TUBA1A NM_006009.3(TUBA1A): c.521C> T (p.Ala174Val) single nucleotide variant Likely pathogenic rs587784489 GRCh38 Chromosome 12, 49185845: 49185845
47 TUBA1A NM_006009.3(TUBA1A): c.481T> G (p.Tyr161Asp) single nucleotide variant Pathogenic rs587784488 GRCh37 Chromosome 12, 49579668: 49579668
48 TUBA1A NM_006009.3(TUBA1A): c.481T> G (p.Tyr161Asp) single nucleotide variant Pathogenic rs587784488 GRCh38 Chromosome 12, 49185885: 49185885
49 TUBA1A NM_006009.3(TUBA1A): c.162T> A (p.Ser54Arg) single nucleotide variant Likely pathogenic rs587784486 GRCh37 Chromosome 12, 49580458: 49580458
50 TUBA1A NM_006009.3(TUBA1A): c.162T> A (p.Ser54Arg) single nucleotide variant Likely pathogenic rs587784486 GRCh38 Chromosome 12, 49186675: 49186675

Expression for Lissencephaly 3

Search GEO for disease gene expression data for Lissencephaly 3.

Pathways for Lissencephaly 3

GO Terms for Lissencephaly 3

Sources for Lissencephaly 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
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45 MESH via Orphanet
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54 NINDS
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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