Aliases & Classifications for Tubulinopathies

MalaCards integrated aliases for Tubulinopathies:

Name: Tubulinopathies 25 30 6
Tubulinopathy 6

Summaries for Tubulinopathies

MalaCards based summary : Tubulinopathies, also known as tubulinopathy, is related to microcephaly and tubulinopathy-associated dysgyria. An important gene associated with Tubulinopathies is TUBA1A (Tubulin Alpha 1a), and among its related pathways/superpathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. Affiliated tissues include brain and skin.

GeneReviews:

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 microcephaly 29.6 TUBA1A TUBG1
2 tubulinopathy-associated dysgyria 12.1
3 skin creases, congenital symmetric circumferential, 1 11.4
4 seizure disorder 10.2
5 fetal akinesia deformation sequence 1 10.1
6 cerebral palsy 10.1
7 porencephaly 10.1
8 microlissencephaly 10.1
9 band heterotopia 9.5 TUBA1A TUBG1

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, Skin

Publications for Tubulinopathies

Articles related to Tubulinopathies:

# Title Authors Year
1
β-Tubulinopathy caused by a mutation of the TUBB2B gene: magnetic resonance imaging findings of the brain. ( 30704335 )
2019
2
The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy. ( 30744660 )
2019
3
A case of tubulinopathy presenting with porencephaly caused by a novel missense mutation in the TUBA1A gene. ( 29907476 )
2018
4
Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1. ( 29706637 )
2018
5
Tubulinopathies. ( 30516692 )
2018
6
Cerebral palsy and seizures in a child with tubulinopathy pattern dysgenesis and focal cortical dysplasia. ( 28491196 )
2017
7
Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD: further delineation of a new chaperone-mediated tubulinopathy. ( 27807845 )
2017
8
De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: An unusual presentation of tubulinopathy. ( 26732629 )
2016
9
Tubulinopathies and Their Brain Malformation Syndromes: Every TUB on Its Own Bottom. ( 26251641 )
2015
10
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 (show top 50) (show all 242)
# Gene Variation Type Significance SNP ID Assembly Location
1 TUBA1A NM_006009.3(TUBA1A): c.790C> T (p.Arg264Cys) single nucleotide variant Pathogenic rs137853043 GRCh37 Chromosome 12, 49579359: 49579359
2 TUBA1A NM_006009.3(TUBA1A): c.790C> T (p.Arg264Cys) single nucleotide variant Pathogenic rs137853043 GRCh38 Chromosome 12, 49185576: 49185576
3 TUBA1A NM_006009.3(TUBA1A): c.1205G> A (p.Arg402His) single nucleotide variant Pathogenic rs137853044 GRCh37 Chromosome 12, 49578944: 49578944
4 TUBA1A NM_006009.3(TUBA1A): c.1205G> A (p.Arg402His) single nucleotide variant Pathogenic rs137853044 GRCh38 Chromosome 12, 49185161: 49185161
5 TUBA1A NM_006009.3(TUBA1A): c.562A> C (p.Ile188Leu) single nucleotide variant Pathogenic rs137853045 GRCh37 Chromosome 12, 49579587: 49579587
6 TUBA1A NM_006009.3(TUBA1A): c.562A> C (p.Ile188Leu) single nucleotide variant Pathogenic rs137853045 GRCh38 Chromosome 12, 49185804: 49185804
7 TUBA1A NM_006009.3(TUBA1A): c.787C> A (p.Pro263Thr) single nucleotide variant Pathogenic rs137853046 GRCh37 Chromosome 12, 49579362: 49579362
8 TUBA1A NM_006009.3(TUBA1A): c.787C> A (p.Pro263Thr) single nucleotide variant Pathogenic rs137853046 GRCh38 Chromosome 12, 49185579: 49185579
9 TUBA1A NM_006009.3(TUBA1A): c.1256C> T (p.Ser419Leu) single nucleotide variant Pathogenic rs137853047 GRCh37 Chromosome 12, 49578893: 49578893
10 TUBA1A NM_006009.3(TUBA1A): c.1256C> T (p.Ser419Leu) single nucleotide variant Pathogenic rs137853047 GRCh38 Chromosome 12, 49185110: 49185110
11 TUBA1A NM_006009.3(TUBA1A): c.1190T> C (p.Leu397Pro) single nucleotide variant Pathogenic rs137853048 GRCh37 Chromosome 12, 49578959: 49578959
12 TUBA1A NM_006009.3(TUBA1A): c.1190T> C (p.Leu397Pro) single nucleotide variant Pathogenic rs137853048 GRCh38 Chromosome 12, 49185176: 49185176
13 TUBA1A NM_006009.2(TUBA1A): c.1264C> T (p.Arg422Cys) single nucleotide variant Pathogenic rs137853049 GRCh37 Chromosome 12, 49578885: 49578885
14 TUBA1A NM_006009.2(TUBA1A): c.1264C> T (p.Arg422Cys) single nucleotide variant Pathogenic rs137853049 GRCh38 Chromosome 12, 49185102: 49185102
15 TUBA1A NM_006009.3(TUBA1A): c.1265G> A (p.Arg422His) single nucleotide variant Pathogenic rs137853050 GRCh37 Chromosome 12, 49578884: 49578884
16 TUBA1A NM_006009.3(TUBA1A): c.1265G> A (p.Arg422His) single nucleotide variant Pathogenic rs137853050 GRCh38 Chromosome 12, 49185101: 49185101
17 TUBA1A NM_006009.3(TUBA1A): c.13A> C (p.Ile5Leu) single nucleotide variant Likely pathogenic rs387906840 GRCh37 Chromosome 12, 49580607: 49580607
18 TUBA1A NM_006009.3(TUBA1A): c.13A> C (p.Ile5Leu) single nucleotide variant Likely pathogenic rs387906840 GRCh38 Chromosome 12, 49186824: 49186824
19 TUBA1A NM_006009.3(TUBA1A): c.1274T> A (p.Met425Lys) single nucleotide variant Pathogenic/Likely pathogenic rs587784484 GRCh37 Chromosome 12, 49578875: 49578875
20 TUBA1A NM_006009.3(TUBA1A): c.1274T> A (p.Met425Lys) single nucleotide variant Pathogenic/Likely pathogenic rs587784484 GRCh38 Chromosome 12, 49185092: 49185092
21 TUBA1A NM_006009.3(TUBA1A): c.1205G> T (p.Arg402Leu) single nucleotide variant Pathogenic rs137853044 GRCh37 Chromosome 12, 49578944: 49578944
22 TUBA1A NM_006009.3(TUBA1A): c.1205G> T (p.Arg402Leu) single nucleotide variant Pathogenic rs137853044 GRCh38 Chromosome 12, 49185161: 49185161
23 TUBA1A NM_006009.3(TUBA1A): c.1204C> T (p.Arg402Cys) single nucleotide variant Pathogenic rs587784483 GRCh37 Chromosome 12, 49578945: 49578945
24 TUBA1A NM_006009.3(TUBA1A): c.1204C> T (p.Arg402Cys) single nucleotide variant Pathogenic rs587784483 GRCh38 Chromosome 12, 49185162: 49185162
25 TUBA1A NM_006009.3(TUBA1A): c.1204C> A (p.Arg402Ser) single nucleotide variant Likely pathogenic rs587784483 GRCh37 Chromosome 12, 49578945: 49578945
26 TUBA1A NM_006009.3(TUBA1A): c.1204C> A (p.Arg402Ser) single nucleotide variant Likely pathogenic rs587784483 GRCh38 Chromosome 12, 49185162: 49185162
27 TUBA1A NM_006009.3(TUBA1A): c.1148C> T (p.Ala383Val) single nucleotide variant Pathogenic/Likely pathogenic rs587784482 GRCh37 Chromosome 12, 49579001: 49579001
28 TUBA1A NM_006009.3(TUBA1A): c.1148C> T (p.Ala383Val) single nucleotide variant Pathogenic/Likely pathogenic rs587784482 GRCh38 Chromosome 12, 49185218: 49185218
29 TUBA1A NM_006009.3(TUBA1A): c.1129A> G (p.Met377Val) single nucleotide variant Likely pathogenic rs587784481 GRCh37 Chromosome 12, 49579020: 49579020
30 TUBA1A NM_006009.3(TUBA1A): c.1129A> G (p.Met377Val) single nucleotide variant Likely pathogenic rs587784481 GRCh38 Chromosome 12, 49185237: 49185237
31 TUBA1A NM_006009.3(TUBA1A): c.995T> C (p.Ile332Thr) single nucleotide variant Likely pathogenic rs587784497 GRCh37 Chromosome 12, 49579154: 49579154
32 TUBA1A NM_006009.3(TUBA1A): c.995T> C (p.Ile332Thr) single nucleotide variant Likely pathogenic rs587784497 GRCh38 Chromosome 12, 49185371: 49185371
33 TUBA1A NM_006009.3(TUBA1A): c.986A> G (p.Asn329Ser) single nucleotide variant Pathogenic rs587784495 GRCh37 Chromosome 12, 49579163: 49579163
34 TUBA1A NM_006009.3(TUBA1A): c.986A> G (p.Asn329Ser) single nucleotide variant Pathogenic rs587784495 GRCh38 Chromosome 12, 49185380: 49185380
35 TUBA1A NM_006009.3(TUBA1A): c.808G> T (p.Ala270Ser) single nucleotide variant Pathogenic/Likely pathogenic rs587784494 GRCh37 Chromosome 12, 49579341: 49579341
36 TUBA1A NM_006009.3(TUBA1A): c.808G> T (p.Ala270Ser) single nucleotide variant Pathogenic/Likely pathogenic rs587784494 GRCh38 Chromosome 12, 49185558: 49185558
37 TUBA1A NM_006009.3(TUBA1A): c.698A> G (p.Gln233Arg) single nucleotide variant Likely pathogenic rs587784492 GRCh37 Chromosome 12, 49579451: 49579451
38 TUBA1A NM_006009.3(TUBA1A): c.698A> G (p.Gln233Arg) single nucleotide variant Likely pathogenic rs587784492 GRCh38 Chromosome 12, 49185668: 49185668
39 TUBA1A NM_006009.3(TUBA1A): c.521C> T (p.Ala174Val) single nucleotide variant Conflicting interpretations of pathogenicity rs587784489 GRCh37 Chromosome 12, 49579628: 49579628
40 TUBA1A NM_006009.3(TUBA1A): c.521C> T (p.Ala174Val) single nucleotide variant Conflicting interpretations of pathogenicity rs587784489 GRCh38 Chromosome 12, 49185845: 49185845
41 TUBA1A NM_006009.3(TUBA1A): c.481T> G (p.Tyr161Asp) single nucleotide variant Pathogenic/Likely pathogenic rs587784488 GRCh37 Chromosome 12, 49579668: 49579668
42 TUBA1A NM_006009.3(TUBA1A): c.481T> G (p.Tyr161Asp) single nucleotide variant Pathogenic/Likely pathogenic rs587784488 GRCh38 Chromosome 12, 49185885: 49185885
43 TUBA1A NM_006009.3(TUBA1A): c.162T> A (p.Ser54Arg) single nucleotide variant Likely pathogenic rs587784486 GRCh37 Chromosome 12, 49580458: 49580458
44 TUBA1A NM_006009.3(TUBA1A): c.162T> A (p.Ser54Arg) single nucleotide variant Likely pathogenic rs587784486 GRCh38 Chromosome 12, 49186675: 49186675
45 TUBA1A NM_006009.3(TUBA1A): c.152C> T (p.Thr51Ile) single nucleotide variant Likely pathogenic rs587784485 GRCh37 Chromosome 12, 49580468: 49580468
46 TUBA1A NM_006009.3(TUBA1A): c.152C> T (p.Thr51Ile) single nucleotide variant Likely pathogenic rs587784485 GRCh38 Chromosome 12, 49186685: 49186685
47 TUBA1A NM_006009.3(TUBA1A): c.5G> A (p.Arg2His) single nucleotide variant Pathogenic/Likely pathogenic rs587784491 GRCh37 Chromosome 12, 49580615: 49580615
48 TUBA1A NM_006009.3(TUBA1A): c.5G> A (p.Arg2His) single nucleotide variant Pathogenic/Likely pathogenic rs587784491 GRCh38 Chromosome 12, 49186832: 49186832
49 TUBA1A NM_006009.4(TUBA1A): c.596A> G (p.Asp199Gly) single nucleotide variant Likely pathogenic rs786205479 GRCh38 Chromosome 12, 49185770: 49185770
50 TUBA1A NM_006009.4(TUBA1A): c.596A> G (p.Asp199Gly) single nucleotide variant Likely pathogenic rs786205479 GRCh37 Chromosome 12, 49579553: 49579553

Expression for Tubulinopathies

Search GEO for disease gene expression data for Tubulinopathies.

Pathways for Tubulinopathies

GO Terms for Tubulinopathies

Cellular components related to Tubulinopathies according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 microtubule GO:0005874 9.16 TUBA1A TUBG1
2 recycling endosome GO:0055037 8.96 TUBA1A TUBG1
3 cytoplasmic microtubule GO:0005881 8.62 TUBA1A TUBG1

Biological processes related to Tubulinopathies according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitotic cell cycle GO:0000278 9.37 TUBA1A TUBG1
2 G2/M transition of mitotic cell cycle GO:0000086 9.32 TUBA1A TUBG1
3 microtubule cytoskeleton organization GO:0000226 9.26 TUBA1A TUBG1
4 ciliary basal body-plasma membrane docking GO:0097711 9.16 TUBA1A TUBG1
5 regulation of G2/M transition of mitotic cell cycle GO:0010389 8.96 TUBA1A TUBG1
6 microtubule-based process GO:0007017 8.62 TUBA1A TUBG1

Molecular functions related to Tubulinopathies according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 9.26 TUBA1A TUBG1
2 GTP binding GO:0005525 9.16 TUBA1A TUBG1
3 GTPase activity GO:0003924 8.96 TUBA1A TUBG1
4 structural constituent of cytoskeleton GO:0005200 8.62 TUBA1A TUBG1

Sources for Tubulinopathies

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