MCID: LSS009
MIFTS: 25

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 54 24 71 29 13 69
Lis3 24 71
Lissencephaly Due to Tuba1a Mutation 56

Characteristics:

Orphanet epidemiological data:

56
lissencephaly due to tuba1a mutation
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide);

OMIM:

54
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 : 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, ventriculomegaly and intellectual disability, severe. 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 5
Lissencephaly 3 Lissencephaly 8
Lissencephaly 4 Lissencephaly 1
Dcx-Related Lissencephaly

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

id Related Disease Score Top Affiliating Genes
1 lissencephaly with cerebellar hypoplasia 10.8

Symptoms & Phenotypes for Lissencephaly 3

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
hypotonia
delayed motor development
ataxia
thin corpus callosum
seizures
more
Head And Neck- Head:
microcephaly


Clinical features from OMIM:

611603

Human phenotypes related to Lissencephaly 3:

32 (show all 16)
id Description HPO Frequency HPO Source Accession
1 ataxia 32 HP:0001251
2 ventriculomegaly 32 HP:0002119
3 intellectual disability, severe 32 HP:0010864
4 seizures 32 HP:0001250
5 microcephaly 32 HP:0000252
6 pachygyria 32 HP:0001302
7 polymicrogyria 32 HP:0002126
8 hypoplasia of the corpus callosum 32 HP:0002079
9 agenesis of corpus callosum 32 HP:0001274
10 motor delay 32 HP:0001270
11 lissencephaly 32 HP:0001339
12 spastic tetraplegia 32 HP:0002510
13 muscular hypotonia 32 HP:0001252
14 cerebellar vermis hypoplasia 32 HP:0001320
15 hypoplasia of the brainstem 32 HP:0002365
16 heterotopia 32 HP:0002282

UMLS symptoms related to Lissencephaly 3:


ataxia, seizures

Drugs & Therapeutics for Lissencephaly 3

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Congenital Muscle Disease Study of Patient and Family Reported Medical Information Recruiting NCT01403402

Search NIH Clinical Center for Lissencephaly 3

Genetic Tests for Lissencephaly 3

Genetic tests related to Lissencephaly 3:

id Genetic test Affiliating Genes
1 Lissencephaly 3 29 24 TUBA1A

Anatomical Context for Lissencephaly 3

MalaCards organs/tissues related to Lissencephaly 3:

39
Brain

Publications for Lissencephaly 3

Variations for Lissencephaly 3

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

71
id 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 34)
id 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.1205G> A (p.Arg402His) single nucleotide variant Pathogenic rs137853044 GRCh37 Chromosome 12, 49578944: 49578944
3 TUBA1A NM_006009.3(TUBA1A): c.562A> C (p.Ile188Leu) single nucleotide variant Pathogenic rs137853045 GRCh37 Chromosome 12, 49579587: 49579587
4 TUBA1A NM_006009.3(TUBA1A): c.787C> A (p.Pro263Thr) single nucleotide variant Pathogenic rs137853046 GRCh37 Chromosome 12, 49579362: 49579362
5 TUBA1A NM_006009.3(TUBA1A): c.1256C> T (p.Ser419Leu) single nucleotide variant Pathogenic rs137853047 GRCh37 Chromosome 12, 49578893: 49578893
6 TUBA1A NM_006009.3(TUBA1A): c.1190T> C (p.Leu397Pro) single nucleotide variant Pathogenic rs137853048 GRCh37 Chromosome 12, 49578959: 49578959
7 TUBA1A NM_006009.3(TUBA1A): c.1264C> T (p.Arg422Cys) single nucleotide variant Pathogenic rs137853049 GRCh37 Chromosome 12, 49578885: 49578885
8 TUBA1A NM_006009.3(TUBA1A): c.1265G> A (p.Arg422His) single nucleotide variant Pathogenic rs137853050 GRCh37 Chromosome 12, 49578884: 49578884
9 TUBA1A NM_006009.3(TUBA1A): c.13A> C (p.Ile5Leu) single nucleotide variant Pathogenic rs387906840 GRCh37 Chromosome 12, 49580607: 49580607
10 TUBA1A NM_006009.3(TUBA1A): c.1274T> A (p.Met425Lys) single nucleotide variant Likely pathogenic rs587784484 GRCh38 Chromosome 12, 49185092: 49185092
11 TUBA1A NM_006009.3(TUBA1A): c.1205G> T (p.Arg402Leu) single nucleotide variant Pathogenic rs137853044 GRCh37 Chromosome 12, 49578944: 49578944
12 TUBA1A NM_006009.3(TUBA1A): c.1204C> T (p.Arg402Cys) single nucleotide variant Pathogenic rs587784483 GRCh38 Chromosome 12, 49185162: 49185162
13 TUBA1A NM_006009.3(TUBA1A): c.1204C> A (p.Arg402Ser) single nucleotide variant Likely pathogenic rs587784483 GRCh37 Chromosome 12, 49578945: 49578945
14 TUBA1A NM_006009.3(TUBA1A): c.1148C> T (p.Ala383Val) single nucleotide variant Pathogenic/Likely pathogenic rs587784482 GRCh38 Chromosome 12, 49185218: 49185218
15 TUBA1A NM_006009.3(TUBA1A): c.1129A> G (p.Met377Val) single nucleotide variant Likely pathogenic rs587784481 GRCh38 Chromosome 12, 49185237: 49185237
16 TUBA1A NM_006009.3(TUBA1A): c.995T> C (p.Ile332Thr) single nucleotide variant Likely pathogenic rs587784497 GRCh38 Chromosome 12, 49185371: 49185371
17 TUBA1A NM_006009.3(TUBA1A): c.986A> G (p.Asn329Ser) single nucleotide variant Likely pathogenic rs587784495 GRCh37 Chromosome 12, 49579163: 49579163
18 TUBA1A NM_006009.3(TUBA1A): c.808G> T (p.Ala270Ser) single nucleotide variant Likely pathogenic rs587784494 GRCh37 Chromosome 12, 49579341: 49579341
19 TUBA1A NM_006009.3(TUBA1A): c.698A> G (p.Gln233Arg) single nucleotide variant Likely pathogenic rs587784492 GRCh38 Chromosome 12, 49185668: 49185668
20 TUBA1A NM_006009.3(TUBA1A): c.481T> G (p.Tyr161Asp) single nucleotide variant Pathogenic rs587784488 GRCh37 Chromosome 12, 49579668: 49579668
21 TUBA1A NM_006009.3(TUBA1A): c.162T> A (p.Ser54Arg) single nucleotide variant Likely pathogenic rs587784486 GRCh38 Chromosome 12, 49186675: 49186675
22 TUBA1A NM_006009.3(TUBA1A): c.152C> T (p.Thr51Ile) single nucleotide variant Likely pathogenic rs587784485 GRCh38 Chromosome 12, 49186685: 49186685
23 TUBA1A NM_006009.3(TUBA1A): c.5G> A (p.Arg2His) single nucleotide variant Pathogenic/Likely pathogenic rs587784491 GRCh38 Chromosome 12, 49186832: 49186832
24 TUBA1A NM_006009.3(TUBA1A): c.1226T> C (p.Val409Ala) single nucleotide variant Pathogenic/Likely pathogenic rs797045005 GRCh37 Chromosome 12, 49578923: 49578923
25 TUBA1A NM_006009.3(TUBA1A): c.1224C> A (p.Tyr408Ter) single nucleotide variant Pathogenic rs753719501 GRCh37 Chromosome 12, 49578925: 49578925
26 TUBA1A NM_006009.3(TUBA1A): c.1105G> A (p.Ala369Thr) single nucleotide variant Likely pathogenic rs797046071 GRCh38 Chromosome 12, 49185261: 49185261
27 TUBA1A NM_006009.3(TUBA1A): c.970G> C (p.Val324Leu) single nucleotide variant Likely pathogenic rs797046073 GRCh38 Chromosome 12, 49185396: 49185396
28 TUBA1A NM_006009.3(TUBA1A): c.269A> G (p.Glu90Gly) single nucleotide variant Likely pathogenic rs797046072 GRCh38 Chromosome 12, 49186416: 49186416
29 TUBA1A NM_006009.3(TUBA1A): c.352G> A (p.Val118Met) single nucleotide variant Likely pathogenic rs863224938 GRCh38 Chromosome 12, 49186333: 49186333
30 TUBA1A NM_006009.3(TUBA1A): c.791G> A (p.Arg264His) single nucleotide variant Likely pathogenic rs886043627 GRCh37 Chromosome 12, 49579358: 49579358
31 TUBA1A NM_006009.3(TUBA1A): c.641G> A (p.Arg214His) single nucleotide variant Pathogenic rs1057517843 GRCh37 Chromosome 12, 49579508: 49579508
32 TUBA1A NM_006009.3(TUBA1A): c.1304T> C (p.Val435Ala) single nucleotide variant Likely pathogenic GRCh37 Chromosome 12, 49578845: 49578845
33 TUBA1A NM_006009.3(TUBA1A): c.1144A> G (p.Thr382Ala) single nucleotide variant Likely pathogenic GRCh37 Chromosome 12, 49579005: 49579005
34 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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