MCID: LSS009
MIFTS: 22

Lissencephaly 3

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

Aliases & Classifications for Lissencephaly 3

MalaCards integrated aliases for Lissencephaly 3:

Name: Lissencephaly 3 53 71 28 13 69
Lis3 53 71
Lissencephaly Due to Tuba1a Mutation 55

Characteristics:

Orphanet epidemiological data:

55
lissencephaly due to tuba1a mutation
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide);

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation (in most patients)


HPO:

31
lissencephaly 3:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Lissencephaly 3

UniProtKB/Swiss-Prot : 71 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, seizures and agenesis of corpus callosum. An important gene associated with Lissencephaly 3 is TUBA1A (Tubulin Alpha 1a). Affiliated tissues include brain.

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:

53
Neurologic Central Nervous System:
ataxia
seizures
spastic tetraplegia
polymicrogyria
lissencephaly
more
Head And Neck Head:
microcephaly


Clinical features from OMIM:

611603

Human phenotypes related to Lissencephaly 3:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 ataxia 31 HP:0001251
2 seizures 31 HP:0001250
3 agenesis of corpus callosum 31 HP:0001274
4 microcephaly 31 HP:0000252
5 spastic tetraplegia 31 HP:0002510
6 intellectual disability, severe 31 HP:0010864
7 ventriculomegaly 31 HP:0002119
8 pachygyria 31 HP:0001302
9 polymicrogyria 31 HP:0002126
10 motor delay 31 HP:0001270
11 lissencephaly 31 HP:0001339
12 hypoplasia of the corpus callosum 31 HP:0002079
13 heterotopia 31 HP:0002282
14 cerebellar vermis hypoplasia 31 HP:0001320
15 generalized hypotonia 31 HP:0001290
16 hypoplasia of the brainstem 31 HP:0002365

UMLS symptoms related to Lissencephaly 3:


seizures, ataxia

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 28 TUBA1A

Anatomical Context for Lissencephaly 3

MalaCards organs/tissues related to Lissencephaly 3:

38
Brain

Publications for Lissencephaly 3

Variations for Lissencephaly 3

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

71
# 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 all 35)
# Gene Variation Type Significance SNP ID Assembly Location
1 TUBA1A NM_006009.3(TUBA1A): c.13A> C (p.Ile5Leu) single nucleotide variant Pathogenic rs387906840 GRCh37 Chromosome 12, 49580607: 49580607
2 TUBA1A NM_006009.3(TUBA1A): c.1274T> A (p.Met425Lys) single nucleotide variant Likely pathogenic rs587784484 GRCh38 Chromosome 12, 49185092: 49185092
3 TUBA1A NM_006009.3(TUBA1A): c.1205G> T (p.Arg402Leu) single nucleotide variant Pathogenic rs137853044 GRCh38 Chromosome 12, 49185161: 49185161
4 TUBA1A NM_006009.3(TUBA1A): c.1204C> T (p.Arg402Cys) single nucleotide variant Pathogenic rs587784483 GRCh38 Chromosome 12, 49185162: 49185162
5 TUBA1A NM_006009.3(TUBA1A): c.1204C> A (p.Arg402Ser) single nucleotide variant Likely pathogenic rs587784483 GRCh38 Chromosome 12, 49185162: 49185162
6 TUBA1A NM_006009.3(TUBA1A): c.1148C> T (p.Ala383Val) single nucleotide variant Pathogenic/Likely pathogenic rs587784482 GRCh38 Chromosome 12, 49185218: 49185218
7 TUBA1A NM_006009.3(TUBA1A): c.1129A> G (p.Met377Val) single nucleotide variant Likely pathogenic rs587784481 GRCh38 Chromosome 12, 49185237: 49185237
8 TUBA1A NM_006009.3(TUBA1A): c.995T> C (p.Ile332Thr) single nucleotide variant Likely pathogenic rs587784497 GRCh38 Chromosome 12, 49185371: 49185371
9 TUBA1A NM_006009.3(TUBA1A): c.986A> G (p.Asn329Ser) single nucleotide variant Pathogenic rs587784495 GRCh38 Chromosome 12, 49185380: 49185380
10 TUBA1A NM_006009.3(TUBA1A): c.808G> T (p.Ala270Ser) single nucleotide variant Likely pathogenic rs587784494 GRCh38 Chromosome 12, 49185558: 49185558
11 TUBA1A NM_006009.3(TUBA1A): c.698A> G (p.Gln233Arg) single nucleotide variant Likely pathogenic rs587784492 GRCh38 Chromosome 12, 49185668: 49185668
12 TUBA1A NM_006009.3(TUBA1A): c.521C> T (p.Ala174Val) single nucleotide variant Likely pathogenic rs587784489 GRCh38 Chromosome 12, 49185845: 49185845
13 TUBA1A NM_006009.3(TUBA1A): c.481T> G (p.Tyr161Asp) single nucleotide variant Pathogenic rs587784488 GRCh38 Chromosome 12, 49185885: 49185885
14 TUBA1A NM_006009.3(TUBA1A): c.162T> A (p.Ser54Arg) single nucleotide variant Likely pathogenic rs587784486 GRCh38 Chromosome 12, 49186675: 49186675
15 TUBA1A NM_006009.3(TUBA1A): c.152C> T (p.Thr51Ile) single nucleotide variant Likely pathogenic rs587784485 GRCh38 Chromosome 12, 49186685: 49186685
16 TUBA1A NM_006009.3(TUBA1A): c.5G> A (p.Arg2His) single nucleotide variant Pathogenic/Likely pathogenic rs587784491 GRCh38 Chromosome 12, 49186832: 49186832
17 TUBA1A NM_006009.3(TUBA1A): c.790C> T (p.Arg264Cys) single nucleotide variant Pathogenic rs137853043 GRCh37 Chromosome 12, 49579359: 49579359
18 TUBA1A NM_006009.3(TUBA1A): c.1205G> A (p.Arg402His) single nucleotide variant Pathogenic rs137853044 GRCh37 Chromosome 12, 49578944: 49578944
19 TUBA1A NM_006009.3(TUBA1A): c.562A> C (p.Ile188Leu) single nucleotide variant Pathogenic rs137853045 GRCh37 Chromosome 12, 49579587: 49579587
20 TUBA1A NM_006009.3(TUBA1A): c.787C> A (p.Pro263Thr) single nucleotide variant Pathogenic rs137853046 GRCh37 Chromosome 12, 49579362: 49579362
21 TUBA1A NM_006009.3(TUBA1A): c.1256C> T (p.Ser419Leu) single nucleotide variant Pathogenic rs137853047 GRCh37 Chromosome 12, 49578893: 49578893
22 TUBA1A NM_006009.3(TUBA1A): c.1190T> C (p.Leu397Pro) single nucleotide variant Pathogenic rs137853048 GRCh37 Chromosome 12, 49578959: 49578959
23 TUBA1A NM_006009.3(TUBA1A): c.1264C> T (p.Arg422Cys) single nucleotide variant Pathogenic rs137853049 GRCh37 Chromosome 12, 49578885: 49578885
24 TUBA1A NM_006009.3(TUBA1A): c.1265G> A (p.Arg422His) single nucleotide variant Pathogenic rs137853050 GRCh37 Chromosome 12, 49578884: 49578884
25 TUBA1A NM_006009.3(TUBA1A): c.1226T> C (p.Val409Ala) single nucleotide variant Pathogenic/Likely pathogenic rs797045005 GRCh37 Chromosome 12, 49578923: 49578923
26 TUBA1A NM_006009.3(TUBA1A): c.1224C> A (p.Tyr408Ter) single nucleotide variant Pathogenic rs753719501 GRCh37 Chromosome 12, 49578925: 49578925
27 TUBA1A NM_006009.3(TUBA1A): c.1105G> A (p.Ala369Thr) single nucleotide variant Likely pathogenic rs797046071 GRCh38 Chromosome 12, 49185261: 49185261
28 TUBA1A NM_006009.3(TUBA1A): c.970G> C (p.Val324Leu) single nucleotide variant Likely pathogenic rs797046073 GRCh38 Chromosome 12, 49185396: 49185396
29 TUBA1A NM_006009.3(TUBA1A): c.269A> G (p.Glu90Gly) single nucleotide variant Likely pathogenic rs797046072 GRCh38 Chromosome 12, 49186416: 49186416
30 TUBA1A NM_006009.3(TUBA1A): c.352G> A (p.Val118Met) single nucleotide variant Likely pathogenic rs863224938 GRCh38 Chromosome 12, 49186333: 49186333
31 TUBA1A NM_006009.3(TUBA1A): c.791G> A (p.Arg264His) single nucleotide variant Likely pathogenic rs886043627 GRCh37 Chromosome 12, 49579358: 49579358
32 TUBA1A NM_006009.3(TUBA1A): c.641G> A (p.Arg214His) single nucleotide variant Pathogenic rs1057517843 GRCh37 Chromosome 12, 49579508: 49579508
33 TUBA1A NM_006009.3(TUBA1A): c.1304T> C (p.Val435Ala) single nucleotide variant Likely pathogenic GRCh37 Chromosome 12, 49578845: 49578845
34 TUBA1A NM_006009.3(TUBA1A): c.1144A> G (p.Thr382Ala) single nucleotide variant Likely pathogenic GRCh37 Chromosome 12, 49579005: 49579005
35 TUBA1A NM_006009.3(TUBA1A): c.368G> A (p.Arg123His) single nucleotide variant Likely pathogenic GRCh37 Chromosome 12, 49580100: 49580100

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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