MCID: LSS009
MIFTS: 24

Lissencephaly 3 malady

Genetic diseases, Neuronal diseases, Fetal diseases, Rare diseases, Cardiovascular diseases, Skin diseases, Muscle diseases categories

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 autosomal dominant inheritance, microcephaly and seizures. 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:
21GeneTests, 23GTR, 46OMIM, 48Orphanet, 61UMLS, 27ICD10 via Orphanet
See all sources

Lissencephaly 3, Aliases & Descriptions:

Name: Lissencephaly 3 21 23 46 61
 
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 Orphanet27 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 321 23 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:

63
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:

7
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
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Lissencephaly 3

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet