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

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Aliases & Classifications for Lissencephaly 3

MalaCards integrated aliases for Lissencephaly 3:

Name: Lissencephaly 3 ⁵⁷ ¹¹ ⁷³ ¹² ⁴³ ¹⁴ ⁷¹

Lissencephaly Due to Tuba1a Mutation ⁵⁸ ²⁸ ⁵

Lissencephaly Type 3 ⁵⁸ ²⁸ ⁵

Lis3 ⁵⁷ ¹¹ ⁷³

Lissencephaly, Type 3 ³⁸

Characteristics:

Inheritance:

Lissencephaly 3: Autosomal dominant ⁵⁷

Lissencephaly Due to Tuba1a Mutation: Autosomal dominant ⁵⁸

Prevelance:

Lissencephaly Due to Tuba1a Mutation: <1/1000000 (Worldwide) ⁵⁸

Age Of Onset:

Lissencephaly Due to Tuba1a Mutation: Antenatal,Neonatal ⁵⁸

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Miscellaneous:
de novo mutation (in most patients)

Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Neuronal diseases Eye diseases Muscle diseases Mental diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of the nervous system

Other congenital malformations of brain

Other reduction deformities of brain

Orphanet: ⁵⁸

Rare neurological diseases

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹¹ DOID:0112232

OMIM® ⁵⁷ 611603

OMIM Phenotypic Series ⁵⁷ PS607432

MeSH ⁴³ C566908 D054082

ICD10 via Orphanet ³² Q04.3

UMLS via Orphanet ⁷² C1969029

Orphanet ⁵⁸ ORPHA102011 ORPHA171680

MedGen ⁴⁰ C1969029

SNOMED-CT via HPO ⁶⁹ 128490007 128613002 192965001 more

UMLS ⁷¹ C1969029

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Summaries for Lissencephaly 3

Orphanet: ⁵⁸ Lissencephaly (LIS) due to TUBA1A mutation is a congenital cortical development anomaly due to abnormal neuronal migration involving neocortical and hippocampal lamination, corpus callosum, cerebellum and brainstem. A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis.

MalaCards based summary: Lissencephaly 3, also known as lissencephaly due to tuba1a mutation, is related to lissencephaly 2 and lissencephaly type 3-familial fetal akinesia sequence syndrome, and has symptoms including ataxia and seizures. An important gene associated with Lissencephaly 3 is TUBA1A (Tubulin Alpha 1a), and among its related pathways/superpathways are Development Slit-Robo signaling and Neurogenesis regulation in the olfactory epithelium. Affiliated tissues include brain and cerebellum, and related phenotypes are agenesis of corpus callosum and microcephaly

UniProtKB/Swiss-Prot: ⁷³ A classic type lissencephaly associated with psychomotor retardation and seizures. Features include agyria or pachygyria or laminar heterotopia, severe intellectual disability, motor delay, variable presence of seizures, and abnormalities of corpus callosum, hippocampus, cerebellar vermis and brainstem.

Disease Ontology: ¹¹ A lissencephaly characterized by brain malformations, microcephaly, developmental delay and epilepsy that has material basis in heterozygous mutation in TUBA1A on chromosome 12q13.12.

More information from OMIM: 611603 PS607432

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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
Lissencephaly 10	Lissencephaly 6

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

(show all 16)

#	Related Disease	Score	Top Affiliating Genes
1	lissencephaly 2	31.6	TUBA1A PAFAH1B1 CENPJ
2	lissencephaly type 3-familial fetal akinesia sequence syndrome	11.4
3	lissencephaly type iii and bone dysplasia	11.2
4	lissencephaly 1	10.0	TUBA1A PAFAH1B1
5	lissencephaly 10	10.0	TUBA1A PAFAH1B1
6	lissencephaly 7 with cerebellar hypoplasia	9.9	TUBA1A PAFAH1B1
7	hypomelanosis of ito	9.9	TUBA1A PAFAH1B1
8	epilepsy, familial temporal lobe, 7	9.9	NCAM2 DAB1
9	spinocerebellar ataxia 37	9.9	NCAM2 DAB1
10	microlissencephaly	9.8	TUBA1A PAFAH1B1 CENPJ
11	miller-dieker lissencephaly syndrome	9.8	TUBA1A PAFAH1B1 CENPJ
12	band heterotopia	9.8	TUBA1A PAFAH1B1 CENPJ
13	tubulinopathy	9.8	TUBA1A PAFAH1B1
14	periventricular nodular heterotopia	9.8	TUBA1A PAFAH1B1 CENPJ
15	lissencephaly, x-linked, 2	9.7	TUBA1A PAFAH1B1
16	lissencephaly	9.6	TUBA1A PAFAH1B1 DAB1 CENPJ

Graphical network of the top 20 diseases related to Lissencephaly 3:

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Symptoms & Phenotypes for Lissencephaly 3

Human phenotypes related to Lissencephaly 3:

⁵⁸ ³⁰ (show all 36)

#	Description	Orphanet Frequency	HPO Source Accession
1	agenesis of corpus callosum ⁵⁸ ³⁰	Frequent (79-30%)	HP:0001274
2	microcephaly ⁵⁸ ³⁰	Frequent (79-30%)	HP:0000252
3	ventriculomegaly ⁵⁸ ³⁰	Very frequent (99-80%)	HP:0002119
4	polymicrogyria ⁵⁸ ³⁰	Occasional (29-5%)	HP:0002126
5	pachygyria ⁵⁸ ³⁰	Occasional (29-5%)	HP:0001302
6	cerebellar vermis hypoplasia ⁵⁸ ³⁰	Frequent (79-30%)	HP:0001320
7	hypoplasia of the corpus callosum ⁵⁸ ³⁰	Frequent (79-30%)	HP:0002079
8	hypoplasia of the brainstem ⁵⁸ ³⁰	Frequent (79-30%)	HP:0002365
9	agyria ⁵⁸ ³⁰	Occasional (29-5%)	HP:0031882
10	seizure ³⁰		HP:0001250
11	spasticity ⁵⁸	Frequent (79-30%)
12	nystagmus ⁵⁸	Occasional (29-5%)
13	ataxia ³⁰		HP:0001251
14	hypotonia ⁵⁸	Frequent (79-30%)
15	global developmental delay ⁵⁸	Very frequent (99-80%)
16	spastic tetraplegia ³⁰		HP:0002510
17	intellectual disability, severe ³⁰		HP:0010864
18	strabismus ⁵⁸	Frequent (79-30%)
19	motor delay ³⁰		HP:0001270
20	aganglionic megacolon ⁵⁸	Very rare (<4-1%)
21	microretrognathia ⁵⁸	Frequent (79-30%)
22	partial agenesis of the corpus callosum ⁵⁸	Occasional (29-5%)
23	infantile spasms ⁵⁸	Occasional (29-5%)
24	bilateral tonic-clonic seizure ⁵⁸	Frequent (79-30%)
25	lissencephaly ⁵⁸	Frequent (79-30%)
26	gray matter heterotopia ³⁰		HP:0002282
27	generalized hypotonia ³⁰		HP:0001290
28	focal-onset seizure ⁵⁸	Occasional (29-5%)
29	optic nerve hypoplasia ⁵⁸	Occasional (29-5%)
30	dysplastic corpus callosum ⁵⁸	Occasional (29-5%)
31	dilated fourth ventricle ⁵⁸	Frequent (79-30%)
32	hypoplastic hippocampus ⁵⁸	Occasional (29-5%)
33	dysgenesis of the hippocampus ⁵⁸	Frequent (79-30%)
34	perisylvian polymicrogyria ⁵⁸	Occasional (29-5%)
35	dysgenesis of the basal ganglia ⁵⁸	Very frequent (99-80%)
36	hypoplastic anterior limbs of the internal capsule ⁵⁸	Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Neurologic Central Nervous System:
ataxia
hypotonia
spastic tetraplegia
polymicrogyria
lissencephaly
more

Head And Neck Head:
microcephaly

Clinical features from OMIM®:

611603 (Updated 08-Dec-2022)

UMLS symptoms related to Lissencephaly 3:

ataxia; seizures

MGI Mouse Phenotypes related to Lissencephaly 3:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	behavior/neurological	MP:0005386	9.28	ACTR3B ARPC5L CENPJ DAB1 NCAM2 PAFAH1B1

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Drugs & Therapeutics for Lissencephaly 3

Search Clinical Trials, NIH Clinical Center for Lissencephaly 3

Cochrane evidence based reviews: lissencephaly 3

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Genetic Tests for Lissencephaly 3

Genetic tests related to Lissencephaly 3:

#	Genetic test	Affiliating Genes
1	Lissencephaly Due to Tuba1a Mutation ²⁸	TUBA1A
2	Lissencephaly Type 3 ²⁸

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Anatomical Context for Lissencephaly 3

Organs/tissues related to Lissencephaly 3:

MalaCards : Brain, Cerebellum

ODiseA: Brain

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Publications for Lissencephaly 3

Articles related to Lissencephaly 3:

(show all 20)

#	Title	Authors	PMID	Year
1	TUBA1A mutations: from isolated lissencephaly to familial polymicrogyria. ⁵⁷ ⁵	Jansen AC...Lissens W	21403111	2011
2	TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins. ⁵⁷ ⁵	Kumar RA...Dobyns WB	20466733	2010
3	Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly. ⁵⁷ ⁵	Morris-Rosendahl DJ...Uyanik G	18954413	2008
4	Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations. ⁵⁷ ⁵	Bahi-Buisson N...Chelly J	18728072	2008
5	Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A). ⁵⁷ ⁵	Poirier K...Chelly J	17584854	2007
6	Mutations in alpha-tubulin cause abnormal neuronal migration in mice and lissencephaly in humans. ⁵⁷ ⁵	Keays DA...Flint J	17218254	2007
7	Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants. ⁵	Bournazos AM...Australasian Consortium for RNA Diagnostics	34906502	2022
8	Genetic heterogeneity of polymicrogyria: study of 123 patients using deep sequencing. ⁵	Stutterd CA...Leventer RJ	33604570	2021
9	TUBA1A mutations identified in lissencephaly patients dominantly disrupt neuronal migration and impair dynein activity. ⁵	Aiken J...Bates EA	30517687	2019
10	The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy. ⁵	Hebebrand M...Popp B	30744660	2019
11	Comprehensive genomic analysis of patients with disorders of cerebral cortical development. ⁵	Wiszniewski W...Lupski JR	29706646	2018
12	Clinical and Functional Characterization of the Recurrent TUBA1A p.(Arg2His) Mutation. ⁵	Gardner JF...Fry AE	30087272	2018
13	Molecular diagnostic experience of whole-exome sequencing in adult patients. ⁵	Posey JE...Plon SE	26633545	2016
14	Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly. ⁵⁷	Fallet-Bianco C...Bahi-Buisson N	25059107	2014
15	The wide spectrum of tubulinopathies: what are the key features for the diagnosis? ⁵	Bahi-Buisson N...Chelly J	24860126	2014
16	Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria. ⁵⁷	Poirier K...Bahi-Buisson N	22948023	2013
17	Disease-associated mutations in TUBA1A result in a spectrum of defects in the tubulin folding and heterodimer assembly pathway. ⁵	Tian G...Cowan NJ	20603323	2010
18	Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1A. ⁵	Fallet-Bianco C...Francis F	18669490	2008
19	Iterative ACORN as a high throughput tool in structural genomics. ⁶²	Selvanayagam S...Yamane T	17133764	2006
20	Lissencephaly gene (LIS1) expression in the CNS suggests a role in neuronal migration. ⁶²	Reiner O...Caskey CT	7751941	1995

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Genes for Lissencephaly 3

Genes related to Lissencephaly 3 (2 elite genes):

(show all 11)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	TUBA1A	Tubulin Alpha 1a	Protein Coding	1687.89	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)	17218254 17584854 18669490 (more) 18728072 18954413 20466733 20603323 21403111 24860126 26633545 30087272 30517687 30744660 33604570 29706646 34906502 22264709
2	CENPJ	Centromere Protein J	Protein Coding	400	Pathogenic ⁵
3	VWA1	Von Willebrand Factor A Domain Containing 1	Protein Coding	5.7	DISEASES inferred ¹⁴
4	PDLIM5	PDZ And LIM Domain 5	Protein Coding	5.21	DISEASES inferred ¹⁴
5	NCAM2	Neural Cell Adhesion Molecule 2	Protein Coding	5.19	DISEASES inferred ¹⁴
6	ARPC5L	Actin Related Protein 2/3 Complex Subunit 5 Like	Protein Coding	5.19	DISEASES inferred ¹⁴
7	NPSR1-AS1	NPSR1 Antisense RNA 1	RNA Gene	5.04	DISEASES inferred ¹⁴
8	ACTR3B	Actin Related Protein 3B	Protein Coding	5.03	DISEASES inferred ¹⁴
9	PAFAH1B1	Platelet Activating Factor Acetylhydrolase 1b Regulatory Subunit 1	Protein Coding	4.97	DISEASES inferred ¹⁴
10	ZBTB22	Zinc Finger And BTB Domain Containing 22	Protein Coding	4.96	DISEASES inferred ¹⁴
11	DAB1	DAB Adaptor Protein 1	Protein Coding	4.85	DISEASES inferred ¹⁴

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Variations for Lissencephaly 3

ClinVar genetic disease variations for Lissencephaly 3:

⁵ (show top 50) (show all 92)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	CENPJ	NM_018451.5(CENPJ):c.1132C>T (p.Arg378Ter)	SNV	Pathogenic	503611	rs201111299	GRCh37: 13:25481044-25481044 GRCh38: 13:24906906-24906906
2	CENPJ	NM_018451.5(CENPJ):c.289dup (p.Thr97fs)	DUP	Pathogenic	279750	rs759188041	GRCh37: 13:25486874-25486875 GRCh38: 13:24912736-24912737
3	TUBA1A	NM_006009.4(TUBA1A):c.701T>G (p.Ile234Ser)	SNV	Pathogenic	976320	rs1942171599	GRCh37: 12:49579448-49579448 GRCh38: 12:49185665-49185665
4	TUBA1A	NM_006009.4(TUBA1A):c.545T>C (p.Val182Ala)	SNV	Pathogenic	977324	rs1942173367	GRCh37: 12:49579604-49579604 GRCh38: 12:49185821-49185821
5	TUBA1A	NM_006009.4(TUBA1A):c.431G>T (p.Gly144Val)	SNV	Pathogenic	1164064		GRCh37: 12:49579718-49579718 GRCh38: 12:49185935-49185935
6	TUBA1A	NM_006009.4(TUBA1A):c.26T>C (p.Val9Ala)	SNV	Pathogenic	625491	rs1565627795	GRCh37: 12:49580594-49580594 GRCh38: 12:49186811-49186811
7	TUBA1A	NM_006009.4(TUBA1A):c.1288_1302del (p.Lys430_Glu434del)	DEL	Pathogenic	1065497		GRCh37: 12:49578847-49578861 GRCh38: 12:49185064-49185078
8	TUBA1A	NM_006009.4(TUBA1A):c.790C>T (p.Arg264Cys)	SNV	Pathogenic	7070	rs137853043	GRCh37: 12:49579359-49579359 GRCh38: 12:49185576-49185576
9	TUBA1A	NM_006009.4(TUBA1A):c.1205G>A (p.Arg402His)	SNV	Pathogenic	7071	rs137853044	GRCh37: 12:49578944-49578944 GRCh38: 12:49185161-49185161
10	TUBA1A	NM_006009.4(TUBA1A):c.562A>C (p.Ile188Leu)	SNV	Pathogenic	7072	rs137853045	GRCh37: 12:49579587-49579587 GRCh38: 12:49185804-49185804
11	TUBA1A	NM_006009.4(TUBA1A):c.787C>A (p.Pro263Thr)	SNV	Pathogenic	7073	rs137853046	GRCh37: 12:49579362-49579362 GRCh38: 12:49185579-49185579
12	TUBA1A	NM_006009.4(TUBA1A):c.1256C>T (p.Ser419Leu)	SNV	Pathogenic	7074	rs137853047	GRCh37: 12:49578893-49578893 GRCh38: 12:49185110-49185110
13	TUBA1A	NM_006009.4(TUBA1A):c.1190T>C (p.Leu397Pro)	SNV	Pathogenic	7075	rs137853048	GRCh37: 12:49578959-49578959 GRCh38: 12:49185176-49185176
14	TUBA1A	NM_006009.4(TUBA1A):c.1264C>T (p.Arg422Cys)	SNV	Pathogenic	7076	rs137853049	GRCh37: 12:49578885-49578885 GRCh38: 12:49185102-49185102
15	TUBA1A	NM_006009.4(TUBA1A):c.1265G>A (p.Arg422His)	SNV	Pathogenic	7077	rs137853050	GRCh37: 12:49578884-49578884 GRCh38: 12:49185101-49185101
16	TUBA1A	NM_006009.4(TUBA1A):c.13A>C (p.Ile5Leu)	SNV	Pathogenic	30268	rs387906840	GRCh37: 12:49580607-49580607 GRCh38: 12:49186824-49186824
17	TUBA1A	NM_006009.4(TUBA1A):c.1204C>T (p.Arg402Cys)	SNV	Pathogenic	160146	rs587784483	GRCh37: 12:49578945-49578945 GRCh38: 12:49185162-49185162
18	TUBA1A	NM_006009.4(TUBA1A):c.1205G>T (p.Arg402Leu)	SNV	Pathogenic	160147	rs137853044	GRCh37: 12:49578944-49578944 GRCh38: 12:49185161-49185161
19	TUBA1A	NM_006009.4(TUBA1A):c.958C>T (p.Arg320Cys)	SNV	Pathogenic	864866	rs1942168488	GRCh37: 12:49579191-49579191 GRCh38: 12:49185408-49185408
20	TUBA1A	NM_006009.4(TUBA1A):c.481T>G (p.Tyr161Asp)	SNV	Pathogenic	160158	rs587784488	GRCh37: 12:49579668-49579668 GRCh38: 12:49185885-49185885
21	TUBA1A	NM_006009.4(TUBA1A):c.986A>G (p.Asn329Ser)	SNV	Pathogenic	160167	rs587784495	GRCh37: 12:49579163-49579163 GRCh38: 12:49185380-49185380
22	TUBA1A	NM_006009.4(TUBA1A):c.1226T>C (p.Val409Ala)	SNV	Pathogenic	208490	rs797045005	GRCh37: 12:49578923-49578923 GRCh38: 12:49185140-49185140
23	TUBA1A	NM_006009.4(TUBA1A):c.1224C>A (p.Tyr408Ter)	SNV	Pathogenic	209200	rs753719501	GRCh37: 12:49578925-49578925 GRCh38: 12:49185142-49185142
24	TUBA1A	NM_006009.4(TUBA1A):c.1169G>A (p.Arg390His)	SNV	Pathogenic	488628	rs1064796460	GRCh37: 12:49578980-49578980 GRCh38: 12:49185197-49185197
25	TUBA1A	NM_006009.4(TUBA1A):c.652G>A (p.Asp218Asn)	SNV	Pathogenic Likely Pathogenic	372561	rs1057517858	GRCh37: 12:49579497-49579497 GRCh38: 12:49185714-49185714
26	TUBA1A	NM_006009.4(TUBA1A):c.167C>T (p.Thr56Met)	SNV	Pathogenic	625513	rs1565627727	GRCh37: 12:49580453-49580453 GRCh38: 12:49186670-49186670
27	TUBA1A	NM_006009.4(TUBA1A):c.53A>G (p.Asn18Ser)	SNV	Pathogenic	421567	rs1064795213	GRCh37: 12:49580567-49580567 GRCh38: 12:49186784-49186784
28	TUBA1A	NM_006009.4(TUBA1A):c.518C>T (p.Pro173Leu)	SNV	Pathogenic	625511	rs1565627304	GRCh37: 12:49579631-49579631 GRCh38: 12:49185848-49185848
29	TUBA1A	NM_006009.4(TUBA1A):c.1169G>C (p.Arg390Pro)	SNV	Pathogenic/Likely Pathogenic	423490	rs1064796460	GRCh37: 12:49578980-49578980 GRCh38: 12:49185197-49185197
30	TUBA1A	NM_006009.4(TUBA1A):c.352G>A (p.Val118Met)	SNV	Pathogenic/Likely Pathogenic	217023	rs863224938	GRCh37: 12:49580116-49580116 GRCh38: 12:49186333-49186333
31	TUBA1A	NM_006009.4(TUBA1A):c.1105G>A (p.Ala369Thr)	SNV	Pathogenic/Likely Pathogenic	212488	rs797046071	GRCh37: 12:49579044-49579044 GRCh38: 12:49185261-49185261
32	TUBA1A	NM_006009.4(TUBA1A):c.641G>A (p.Arg214His)	SNV	Pathogenic/Likely Pathogenic	372542	rs1057517843	GRCh37: 12:49579508-49579508 GRCh38: 12:49185725-49185725
33	TUBA1A	NM_006009.4(TUBA1A):c.5G>A (p.Arg2His)	SNV	Pathogenic/Likely Pathogenic	160161	rs587784491	GRCh37: 12:49580615-49580615 GRCh38: 12:49186832-49186832
34	TUBA1A	NM_006009.4(TUBA1A):c.698A>G (p.Gln233Arg)	SNV	Likely Pathogenic	160162	rs587784492	GRCh37: 12:49579451-49579451 GRCh38: 12:49185668-49185668
35	TUBA1A	NM_006009.4(TUBA1A):c.808G>T (p.Ala270Ser)	SNV	Likely Pathogenic	160164	rs587784494	GRCh37: 12:49579341-49579341 GRCh38: 12:49185558-49185558
36	TUBA1A	NM_006009.4(TUBA1A):c.995T>C (p.Ile332Thr)	SNV	Likely Pathogenic	160169	rs587784497	GRCh37: 12:49579154-49579154 GRCh38: 12:49185371-49185371
37	TUBA1A	NM_006009.4(TUBA1A):c.521C>T (p.Ala174Val)	SNV	Likely Pathogenic	160159	rs587784489	GRCh37: 12:49579628-49579628 GRCh38: 12:49185845-49185845
38	TUBA1A	NM_006009.4(TUBA1A):c.1144A>G (p.Thr382Ala)	SNV	Likely Pathogenic	437121	rs1555162294	GRCh37: 12:49579005-49579005 GRCh38: 12:49185222-49185222
39	TUBA1A	NM_006009.4(TUBA1A):c.368G>A (p.Arg123His)	SNV	Likely Pathogenic	437122	rs1555162456	GRCh37: 12:49580100-49580100 GRCh38: 12:49186317-49186317
40	TUBA1A	NM_006009.4(TUBA1A):c.1304T>C (p.Val435Ala)	SNV	Likely Pathogenic	437120	rs1555162242	GRCh37: 12:49578845-49578845 GRCh38: 12:49185062-49185062
41	TUBA1A	NM_006009.4(TUBA1A):c.970G>C (p.Val324Leu)	SNV	Likely Pathogenic	212494	rs797046073	GRCh37: 12:49579179-49579179 GRCh38: 12:49185396-49185396
42	TUBA1A	NM_006009.4(TUBA1A):c.269A>G (p.Glu90Gly)	SNV	Likely Pathogenic	212491	rs797046072	GRCh37: 12:49580199-49580199 GRCh38: 12:49186416-49186416
43	TUBA1A	NM_006009.4(TUBA1A):c.1274T>A (p.Met425Lys)	SNV	Likely Pathogenic	160148	rs587784484	GRCh37: 12:49578875-49578875 GRCh38: 12:49185092-49185092
44	TUBA1A	NM_006009.4(TUBA1A):c.152C>T (p.Thr51Ile)	SNV	Likely Pathogenic	160149	rs587784485	GRCh37: 12:49580468-49580468 GRCh38: 12:49186685-49186685
45	TUBA1A	NM_006009.4(TUBA1A):c.162T>A (p.Ser54Arg)	SNV	Likely Pathogenic	160150	rs587784486	GRCh37: 12:49580458-49580458 GRCh38: 12:49186675-49186675
46	TUBA1A	NM_006009.4(TUBA1A):c.703G>C (p.Val235Leu)	SNV	Likely Pathogenic	1028472	rs1565627190	GRCh37: 12:49579446-49579446 GRCh38: 12:49185663-49185663
47	TUBA1A	NM_006009.4(TUBA1A):c.3+3del	DEL	Likely Pathogenic	1064595		GRCh37: 12:49582757-49582757 GRCh38: 12:49188974-49188974
48	TUBA1A	NM_006009.4(TUBA1A):c.879_899del (p.Ala294_Asn300del)	DEL	Likely Pathogenic	1705279		GRCh37: 12:49579250-49579270 GRCh38: 12:49185467-49185487
49	TUBA1A	NM_006009.4(TUBA1A):c.635_640del (p.Ile212_Arg214delinsSer)	DEL	Likely Pathogenic	1679172		GRCh37: 12:49579509-49579514 GRCh38: 12:49185726-49185731
50	TUBA1A	NM_006009.4(TUBA1A):c.1129A>G (p.Met377Val)	SNV	Likely Pathogenic	160142	rs587784481	GRCh37: 12:49579020-49579020 GRCh38: 12:49185237-49185237

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

⁷³

#	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

Sources

Expression for Lissencephaly 3

Search GEO for disease gene expression data for Lissencephaly 3.

Sources

Pathways for Lissencephaly 3

Pathways related to Lissencephaly 3 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Development Slit-Robo signaling ²² Show member pathways Neurophysiological process Receptor-mediated axon growth repulsion ²² Pathogenic Escherichia coli infection ⁷⁴	11.63	TUBA1A ARPC5L ACTR3B
2	Neurogenesis regulation in the olfactory epithelium ⁷⁴	11.01	PAFAH1B1 DAB1
3	Reelin signaling pathway ⁶¹	10.4	PAFAH1B1 DAB1
4	Lissencephaly gene (LIS1) in neuronal migration and development ⁶¹	10.07	PAFAH1B1 DAB1

Sources

GO Terms for Lissencephaly 3

Biological processes related to Lissencephaly 3 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	microtubule-based process	GO:0007017	9.56	TUBA1A PAFAH1B1
2	neuron migration	GO:0001764	9.46	TUBA1A PAFAH1B1 DAB1
3	microtubule polymerization	GO:0046785	9.13	TUBA1A CENPJ
4	radial glia-guided pyramidal neuron migration	GO:0140650	8.92	PAFAH1B1 DAB1

Sources

Sources for Lissencephaly 3

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

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 Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

LIS3 MCID: LSS009 MIFTS: 43	Lissencephaly 3 (LIS3) Categories: Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Muscle diseases, Neuronal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Lissencephaly 3 (LIS3)

Aliases & Classifications for Lissencephaly 3

MalaCards integrated aliases for Lissencephaly 3:

Characteristics:

Inheritance:

Prevelance:

Age Of Onset:

OMIM®:

Classifications:

External Ids:

Summaries for Lissencephaly 3

Related Diseases for Lissencephaly 3

Diseases in the Lissencephaly family:

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

Graphical network of the top 20 diseases related to Lissencephaly 3:

Symptoms & Phenotypes for Lissencephaly 3

Human phenotypes related to Lissencephaly 3:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

UMLS symptoms related to Lissencephaly 3:

MGI Mouse Phenotypes related to Lissencephaly 3:

Drugs & Therapeutics for Lissencephaly 3

Cochrane evidence based reviews: lissencephaly 3

Genetic Tests for Lissencephaly 3

Genetic tests related to Lissencephaly 3:

Anatomical Context for Lissencephaly 3

Organs/tissues related to Lissencephaly 3:

Publications for Lissencephaly 3

Articles related to Lissencephaly 3:

Genes for Lissencephaly 3

Genes related to Lissencephaly 3 (2 elite genes):

Variations for Lissencephaly 3

ClinVar genetic disease variations for Lissencephaly 3:

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

Expression for Lissencephaly 3

Pathways for Lissencephaly 3

Pathways related to Lissencephaly 3 according to GeneCards Suite gene sharing:

GO Terms for Lissencephaly 3

Biological processes related to Lissencephaly 3 according to GeneCards Suite gene sharing:

Sources for Lissencephaly 3