MCID: TBL027
MIFTS: 20

Tubulinopathy-Associated Dysgyria

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Tubulinopathy-Associated Dysgyria

MalaCards integrated aliases for Tubulinopathy-Associated Dysgyria:

Name: Tubulinopathy-Associated Dysgyria 60
Brain Stem Asymmetry-Superior Cerebellar and Basal Ganglia Dysplasia Syndrome 60

Classifications:



External Ids:

Orphanet 60 ORPHA467166

Summaries for Tubulinopathy-Associated Dysgyria

MalaCards based summary : Tubulinopathy-Associated Dysgyria, also known as brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome, is related to microlissencephaly and band heterotopia. An important gene associated with Tubulinopathy-Associated Dysgyria is TUBB3 (Tubulin Beta 3 Class III), and among its related pathways/superpathways are Development Slit-Robo signaling and Chaperonin-mediated protein folding. Affiliated tissues include brain, and related phenotypes are Decreased infection with West Nile virus (WNV) and Increased number of mitotic cells

Related Diseases for Tubulinopathy-Associated Dysgyria

Diseases related to Tubulinopathy-Associated Dysgyria via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 microlissencephaly 9.8 TUBA1A TUBB2B
2 band heterotopia 9.7 TUBA1A TUBB3
3 neonatal anemia 9.7 TUBB2B TUBB3
4 tukel syndrome 9.7 TUBB2B TUBB3
5 paralytic squint 9.7 TUBB2B TUBB3
6 tubulin, beta 9.6 TUBB2B TUBB3
7 physical disorder 9.6 TUBA1A TUBB3
8 congenital nervous system abnormality 9.4 TUBA1A TUBB2B TUBB3

Graphical network of the top 20 diseases related to Tubulinopathy-Associated Dysgyria:



Diseases related to Tubulinopathy-Associated Dysgyria

Symptoms & Phenotypes for Tubulinopathy-Associated Dysgyria

GenomeRNAi Phenotypes related to Tubulinopathy-Associated Dysgyria according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased infection with West Nile virus (WNV) GR00348-A-2 8.96 TUBA1A TUBB3
2 Increased number of mitotic cells GR00098-A-3 8.62 TUBA1A TUBB2B

Drugs & Therapeutics for Tubulinopathy-Associated Dysgyria

Search Clinical Trials , NIH Clinical Center for Tubulinopathy-Associated Dysgyria

Genetic Tests for Tubulinopathy-Associated Dysgyria

Anatomical Context for Tubulinopathy-Associated Dysgyria

MalaCards organs/tissues related to Tubulinopathy-Associated Dysgyria:

42
Brain

Publications for Tubulinopathy-Associated Dysgyria

Variations for Tubulinopathy-Associated Dysgyria

Expression for Tubulinopathy-Associated Dysgyria

Search GEO for disease gene expression data for Tubulinopathy-Associated Dysgyria.

Pathways for Tubulinopathy-Associated Dysgyria

Pathways related to Tubulinopathy-Associated Dysgyria according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.12 TUBA1A TUBB2B TUBB3
2
Show member pathways
12 TUBA1A TUBB2B TUBB3
3 11.97 TUBA1A TUBB3
4
Show member pathways
11.96 TUBA1A TUBB2B TUBB3
5
Show member pathways
11.76 TUBA1A TUBB2B TUBB3
6 11.68 TUBA1A TUBB2B TUBB3
7
Show member pathways
11.59 TUBA1A TUBB2B TUBB3
8
Show member pathways
11.42 TUBA1A TUBB2B TUBB3
9
Show member pathways
11.17 TUBA1A TUBB2B TUBB3
10 10.78 TUBA1A TUBB2B TUBB3

GO Terms for Tubulinopathy-Associated Dysgyria

Cellular components related to Tubulinopathy-Associated Dysgyria according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.33 TUBA1A TUBB2B TUBB3
2 microtubule cytoskeleton GO:0015630 8.96 TUBA1A TUBB2B
3 microtubule GO:0005874 8.8 TUBA1A TUBB2B TUBB3

Biological processes related to Tubulinopathy-Associated Dysgyria according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitotic cell cycle GO:0000278 9.33 TUBA1A TUBB2B TUBB3
2 cytoskeleton organization GO:0007010 9.26 TUBA1A TUBB3
3 microtubule cytoskeleton organization GO:0000226 9.13 TUBA1A TUBB2B TUBB3
4 microtubule-based process GO:0007017 8.8 TUBA1A TUBB2B TUBB3

Molecular functions related to Tubulinopathy-Associated Dysgyria according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 GTP binding GO:0005525 9.33 TUBA1A TUBB2B TUBB3
2 GTPase activity GO:0003924 9.13 TUBA1A TUBB2B TUBB3
3 structural constituent of cytoskeleton GO:0005200 8.8 TUBA1A TUBB2B TUBB3

Sources for Tubulinopathy-Associated Dysgyria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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