MCID: LSS009
MIFTS: 21

Lissencephaly 3 malady

Genetic diseases, Neuronal diseases, Fetal diseases, Rare diseases, Cardiovascular diseases, Skin diseases, Muscle diseases categories
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Summaries for Lissencephaly 3

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MalaCards based summary: Lissencephaly 3, also known as lissencephaly due to tuba1a mutation, is related to lissencephaly with cerebellar hypoplasia, and has symptoms including An important gene associated with Lissencephaly 3 is TUBA1A (tubulin, alpha 1a). Affiliated tissues include brain.

Description from OMIM:46 611603

Aliases & Classifications for Lissencephaly 3

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Sources:
20GeneTests, 22GTR, 46OMIM, 48Orphanet, 62UMLS, 26ICD10 via Orphanet
See all sources

Lissencephaly 3, Aliases & Descriptions:

Name: Lissencephaly 3 20 22 46 62
 
Lissencephaly Due to Tuba1a Mutation 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
lissencephaly due to tuba1a mutation:
Prevalence: <1/1000000


External Ids:

OMIM46 611603
ICD10 via Orphanet26 Q04.3

Related Diseases for Lissencephaly 3

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Diseases in the Lissencephaly 1 family:

Lissencephaly Lissencephaly 2
lissencephaly 3 Lissencephaly 4
Dcx-Related Lissencephaly Lissencephaly 5

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

idRelated DiseaseScoreTop Affiliating Genes
1lissencephaly with cerebellar hypoplasia10.2

Symptoms for Lissencephaly 3

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Symptoms by clinical synopsis from OMIM:

611603

Clinical features from OMIM:

611603

HPO human phenotypes related to Lissencephaly 3:

(show all 16)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 microcephaly HP:0000252
3 seizures HP:0001250
4 ataxia HP:0001251
5 motor delay HP:0001270
6 agenesis of corpus callosum HP:0001274
7 pachygyria HP:0001302
8 cerebellar vermis hypoplasia HP:0001320
9 lissencephaly HP:0001339
10 hypoplasia of the corpus callosum HP:0002079
11 ventriculomegaly HP:0002119
12 polymicrogyria HP:0002126
13 heterotopia HP:0002282
14 hypoplasia of the brainstem HP:0002365
15 spastic tetraplegia HP:0002510
16 intellectual disability, severe HP:0010864

Drugs & Therapeutics for Lissencephaly 3

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Drug clinical trials:

Search ClinicalTrials for Lissencephaly 3

Search NIH Clinical Center for Lissencephaly 3

Genetic Tests for Lissencephaly 3

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Genetic tests related to Lissencephaly 3:

id Genetic test Affiliating Genes
1 Lissencephaly 320 22 TUBA1A

Anatomical Context for Lissencephaly 3

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MalaCards organs/tissues related to Lissencephaly 3:

32
Brain

Animal Models for Lissencephaly 3 or affiliated genes

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Publications for Lissencephaly 3

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Variations for Lissencephaly 3

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

64
id Symbol AA change Variation ID SNP ID
1TUBA1Ap.Ile188LeuVAR_039332
2TUBA1Ap.Pro263ThrVAR_039333
3TUBA1Ap.Arg264CysVAR_039334
4TUBA1Ap.Leu286PheVAR_039335
5TUBA1Ap.Arg402CysVAR_039336
6TUBA1Ap.Arg402HisVAR_039337
7TUBA1Ap.Ser419LeuVAR_039338

Clinvar genetic disease variations for Lissencephaly 3:

6
id Gene Name Type Significance SNP ID Assembly Location
1TUBA1ANM_006009.3(TUBA1A): c.13A> C (p.Ile5Leu)single nucleotide variantPathogenicrs387906840GRCh37Chr 12, 49580607: 49580607
2TUBA1ANM_006009.3(TUBA1A): c.790C> T (p.Arg264Cys)single nucleotide variantPathogenicrs137853043GRCh37Chr 12, 49579359: 49579359
3TUBA1ANM_006009.3(TUBA1A): c.1205G> A (p.Arg402His)single nucleotide variantPathogenicrs137853044GRCh37Chr 12, 49578944: 49578944
4TUBA1ANM_006009.3(TUBA1A): c.562A> C (p.Ile188Leu)single nucleotide variantPathogenicrs137853045GRCh37Chr 12, 49579587: 49579587
5TUBA1ANM_006009.3(TUBA1A): c.787C> A (p.Pro263Thr)single nucleotide variantPathogenicrs137853046GRCh37Chr 12, 49579362: 49579362
6TUBA1ANM_006009.3(TUBA1A): c.1256C> T (p.Ser419Leu)single nucleotide variantPathogenicrs137853047GRCh37Chr 12, 49578893: 49578893
7TUBA1ANM_006009.3(TUBA1A): c.1190T> C (p.Leu397Pro)single nucleotide variantPathogenicrs137853048GRCh37Chr 12, 49578959: 49578959
8TUBA1ANM_006009.3(TUBA1A): c.1264C> T (p.Arg422Cys)single nucleotide variantPathogenicrs137853049GRCh37Chr 12, 49578885: 49578885
9TUBA1ANM_006009.3(TUBA1A): c.1265G> A (p.Arg422His)single nucleotide variantPathogenicrs137853050GRCh37Chr 12, 49578884: 49578884

Expression for genes affiliated with Lissencephaly 3

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Expression patterns in normal tissues for genes affiliated with Lissencephaly 3

Search GEO for disease gene expression data for Lissencephaly 3.

Pathways for genes affiliated with Lissencephaly 3

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Compounds for genes affiliated with Lissencephaly 3

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GO Terms for genes affiliated with Lissencephaly 3

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Products for genes affiliated with Lissencephaly 3

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  • Antibodies
  • Proteins
  • Lysates

Sources for Lissencephaly 3

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet