MCID: TBL027
MIFTS: 17

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 58
Brain Stem Asymmetry-Superior Cerebellar and Basal Ganglia Dysplasia Syndrome 58

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

Orphanet 58 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 cortical dysplasia, complex, with other brain malformations 1 and tubulin, beta. An important gene associated with Tubulinopathy-Associated Dysgyria is TUBA1A (Tubulin Alpha 1a), and among its related pathways/superpathways are Pathways of neurodegeneration - multiple diseases and Prion disease. Affiliated tissues include brain, and related phenotype is Increased number of mitotic cells.

Related Diseases for Tubulinopathy-Associated Dysgyria

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:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 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:

40
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:

(show all 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.9 TUBB3 TUBB2B TUBA1A
2
Show member pathways
12.4 TUBB3 TUBB2B TUBA1A
3
Show member pathways
12.32 TUBB3 TUBB2B TUBA1A
4
Show member pathways
12.06 TUBB3 TUBB2B TUBA1A
5 12.05 TUBB3 TUBA1A
6
Show member pathways
12.02 TUBB3 TUBB2B TUBA1A
7
Show member pathways
11.99 TUBB3 TUBB2B TUBA1A
8
Show member pathways
11.8 TUBB3 TUBB2B TUBA1A
9 11.75 TUBB3 TUBB2B
10 11.73 TUBB3 TUBB2B TUBA1A
11
Show member pathways
11.66 TUBB3 TUBB2B TUBA1A
12 11.63 TUBB3 TUBB2B
13
Show member pathways
11.52 TUBB3 TUBB2B TUBA1A
14
Show member pathways
11.37 TUBB3 TUBB2B TUBA1A
15 11.11 TUBB3 TUBB2B TUBA1A
16 10.74 TUBB3 TUBB2B TUBA1A

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 microtubule cytoskeleton GO:0015630 9.16 TUBB2B TUBA1A
2 cytoskeleton GO:0005856 9.13 TUBB3 TUBB2B TUBA1A
3 microtubule GO:0005874 8.8 TUBB3 TUBB2B TUBA1A

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

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton organization GO:0007010 9.43 TUBB3 TUBB2B TUBA1A
2 mitotic cell cycle GO:0000278 9.33 TUBB3 TUBB2B TUBA1A
3 microtubule cytoskeleton organization GO:0000226 9.13 TUBB3 TUBB2B TUBA1A
4 microtubule-based process GO:0007017 8.8 TUBB3 TUBB2B TUBA1A

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

# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 9.43 TUBB3 TUBB2B TUBA1A
2 GTP binding GO:0005525 9.33 TUBB3 TUBB2B TUBA1A
3 GTPase activity GO:0003924 9.13 TUBB3 TUBB2B TUBA1A
4 structural constituent of cytoskeleton GO:0005200 8.8 TUBB3 TUBB2B TUBA1A

Sources for Tubulinopathy-Associated Dysgyria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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