Lissencephaly 3 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: LSS009 MIFTS: 22	Lissencephaly 3 Categories: Genetic diseases, Neuronal diseases, Fetal diseases, Rare diseases, Cardiovascular diseases, Skin diseases, Muscle diseases
Genes Variations Tissues Related diseases Symptoms & Phenotypes Download Expand all tables

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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:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Neuronal diseases Cardiovascular diseases Skin diseases Muscle diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of the nervous system

Other congenital malformations of brain

Other reduction deformities of brain

Orphanet: ⁵⁹

Rare neurological diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁷ 611603

Orphanet ⁵⁹ ORPHA171680

ICD10 via Orphanet ³⁴ Q04.3

MedGen ⁴² C1969029

MeSH ⁴⁴ D054082

SNOMED-CT via HPO ⁶⁹ 263681008 271611007 128613002 more

UMLS ⁷³ C1969029

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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

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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

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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 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

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Drugs & Therapeutics for Lissencephaly 3

Search Clinical Trials , NIH Clinical Center for Lissencephaly 3

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Genetic Tests for Lissencephaly 3

Genetic tests related to Lissencephaly 3:

#	Genetic test	Affiliating Genes
1	Lissencephaly 3 ²⁹	TUBA1A

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Anatomical Context for Lissencephaly 3

MalaCards organs/tissues related to Lissencephaly 3:

⁴¹

Brain

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Publications for Lissencephaly 3

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Genes for Lissencephaly 3

Genes related to Lissencephaly 3 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	TUBA1A	Tubulin Alpha 1a	Protein Coding	1703.56	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ Pathogenic/Likely pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	17584854 20603323 27010057 (more) 18728072 21403111 17218254 18954413

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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

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Expression for Lissencephaly 3

Search GEO for disease gene expression data for Lissencephaly 3.

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Pathways for Lissencephaly 3

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GO Terms for Lissencephaly 3

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Sources for Lissencephaly 3

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

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¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia