Aliases & Classifications for Tubulinopathies

MalaCards integrated aliases for Tubulinopathies:

Name: Tubulinopathies 25 30
Tubulin-Related Cortical Dysgenesis 25
Tubulinopathy 6

Summaries for Tubulinopathies

MalaCards based summary : Tubulinopathies, also known as tubulin-related cortical dysgenesis, is related to tubulinopathy-associated dysgyria and skin creases, congenital symmetric circumferential, 1. An important gene associated with Tubulinopathies is TUBG1 (Tubulin Gamma 1). Affiliated tissues include brain.

GeneReviews: NBK350554

Related Diseases for Tubulinopathies

Diseases related to Tubulinopathies via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 tubulinopathy-associated dysgyria 12.1
2 skin creases, congenital symmetric circumferential, 1 11.3
3 fetal akinesia deformation sequence 10.0
4 cerebral palsy 10.0
5 porencephaly 10.0
6 microcephaly 10.0
7 seizure disorder 10.0
8 microlissencephaly 10.0

Graphical network of the top 20 diseases related to Tubulinopathies:



Diseases related to Tubulinopathies

Symptoms & Phenotypes for Tubulinopathies

Drugs & Therapeutics for Tubulinopathies

Search Clinical Trials , NIH Clinical Center for Tubulinopathies

Genetic Tests for Tubulinopathies

Genetic tests related to Tubulinopathies:

# Genetic test Affiliating Genes
1 Tubulinopathies 30

Anatomical Context for Tubulinopathies

MalaCards organs/tissues related to Tubulinopathies:

42
Brain

Publications for Tubulinopathies

Articles related to Tubulinopathies:

# Title Authors Year
1
Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1. ( 29706637 )
2018
2
Tubulinopathies. ( 30516692 )
2018
3
Tubulinopathies and Their Brain Malformation Syndromes: Every TUB on Its Own Bottom. ( 26251641 )
2015
4
The wide spectrum of tubulinopathies: what are the key features for the diagnosis? ( 24860126 )
2014

Variations for Tubulinopathies

ClinVar genetic disease variations for Tubulinopathies:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TUBA1A NM_006009.3(TUBA1A): c.1177C> T (p.His393Tyr) single nucleotide variant Likely pathogenic rs1555162288 GRCh37 Chromosome 12, 49578972: 49578972
2 TUBA1A NM_006009.3(TUBA1A): c.1177C> T (p.His393Tyr) single nucleotide variant Likely pathogenic rs1555162288 GRCh38 Chromosome 12, 49185189: 49185189

Expression for Tubulinopathies

Search GEO for disease gene expression data for Tubulinopathies.

Pathways for Tubulinopathies

GO Terms for Tubulinopathies

Sources for Tubulinopathies

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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