MCID: LSS009
MIFTS: 22

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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48OMIM, 34MalaCards
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MalaCards: Lissencephaly 3, also known as lissencephaly due to tuba1a mutation, is related to lissencephaly with cerebellar hypoplasia and partial lissencephaly. An important gene associated with Lissencephaly 3 is TUBA1A (tubulin, alpha 1a). Affiliated tissues include brain.

Description from OMIM:48 611603

Aliases & Classifications for Lissencephaly 3

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Sources:
21GeneTests, 23GTR, 48OMIM, 63UMLS, 50Orphanet, 27ICD10 via Orphanet
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Related Diseases for Lissencephaly 3

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18GeneCards, 19GeneDecks
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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
2partial lissencephaly10.0

Symptoms for Lissencephaly 3

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Sources:
48OMIM
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Symptoms by clinical synopsis from OMIM:

611603

Clinical features from OMIM:

611603

Drugs & Therapeutics for Lissencephaly 3

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Lissencephaly 3

Drug clinical trials:

Search ClinicalTrials for Lissencephaly 3

Search NIH Clinical Center for Lissencephaly 3

Search CenterWatch for Lissencephaly 3

Genetic Tests for Lissencephaly 3

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21GeneTests, 23GTR
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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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34MalaCards
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MalaCards organs/tissues related to Lissencephaly 3:

34
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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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Lissencephaly 3:

65
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:

1
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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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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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

Sources for Lissencephaly 3

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet