MCID: LSS009
MIFTS: 14

Lissencephaly 3 malady

Neuronal, Fetal categories

Summaries for Lissencephaly 3

Sources:
47OMIM, 33MalaCards
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MalaCards: Lissencephaly 3, also known as lissencephaly due to tuba1a mutation, is related to lissencephaly with cerebellar hypoplasia. An important gene associated with Lissencephaly 3 is TUBA1A (tubulin, alpha 1a).

Description from OMIM:47 611603

Aliases & Classifications for Lissencephaly 3

Sources:
20GeneTests, 22GTR, 47OMIM, 61UMLS, 49Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Neuronal


Characteristics (Orphanet epidemiological data):

49
lissencephaly due to tuba1a mutation:
Prevalence: <1/1000000


Aliases & Descriptions:

lissencephaly 3 20 22 47 61
lissencephaly due to tuba1a mutation 49


External Ids:

OMIM47 611603
ICD10 via Orphanet26 Q04.3

Related Diseases for Lissencephaly 3

Sources:
17GeneCards, 18GeneDecks
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Clinical Features for Lissencephaly 3

Sources:
47OMIM
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Clinical features from OMIM:

611603

Clinical synopsis from OMIM:

611603

Drugs & Therapeutics for Lissencephaly 3

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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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

Sources:
20GeneTests, 22GTR
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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

Animal Models for Lissencephaly 3 or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Lissencephaly 3

Genetic Variations for Lissencephaly 3

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Lissencephaly 3:

63
id Symbol AA change Variation SNP ID
1TUBA1Ap.Ile188LeuVAR_039332
2TUBA1Ap.Pro263ThrVAR_039333
3TUBA1Ap.Arg264CysVAR_039334
4TUBA1Ap.Leu286PheVAR_039335
5TUBA1Ap.Arg402CysVAR_039336
6TUBA1Ap.Arg402HisVAR_039337
7TUBA1Ap.Ser419LeuVAR_039338

Expression for genes affiliated with Lissencephaly 3

Sources:
1BioGPS, 15Gene 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

Compounds for genes affiliated with Lissencephaly 3

GO Terms for genes affiliated with Lissencephaly 3

Products for genes affiliated with Lissencephaly 3

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Lissencephaly 3

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet