MCID: ATS521
MIFTS: 12

Autosomal Dominant Macrothrombocytopenia Tubb1-Related

Categories: Blood diseases, Genetic diseases, Rare diseases
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Aliases & Classifications for Autosomal Dominant Macrothrombocytopenia Tubb1-Related

MalaCards integrated aliases for Autosomal Dominant Macrothrombocytopenia Tubb1-Related:

Name: Autosomal Dominant Macrothrombocytopenia Tubb1-Related 11 5

Classifications:



External Ids:

Disease Ontology 11 DOID:0090102
ICD10 31 D69.4

Summaries for Autosomal Dominant Macrothrombocytopenia Tubb1-Related

Disease Ontology: 11 A thrombocytopenia that is characterized by macrothrombocytopenia with normal platelet aggregation and has material basis in autosomal dominant inheritance of mutation in the tubulin beta-1 (TUBB1) gene on chromosome 20q13.3.

MalaCards based summary: Autosomal Dominant Macrothrombocytopenia Tubb1-Related An important gene associated with Autosomal Dominant Macrothrombocytopenia Tubb1-Related is TUBB1 (Tubulin Beta 1 Class VI).

Related Diseases for Autosomal Dominant Macrothrombocytopenia Tubb1-Related

Diseases in the Autosomal Dominant Macrothrombocytopenia family:

Autosomal Dominant Macrothrombocytopenia Tubb1-Related

Symptoms & Phenotypes for Autosomal Dominant Macrothrombocytopenia Tubb1-Related

Drugs & Therapeutics for Autosomal Dominant Macrothrombocytopenia Tubb1-Related

Search Clinical Trials, NIH Clinical Center for Autosomal Dominant Macrothrombocytopenia Tubb1-Related

Genetic Tests for Autosomal Dominant Macrothrombocytopenia Tubb1-Related

Anatomical Context for Autosomal Dominant Macrothrombocytopenia Tubb1-Related

Publications for Autosomal Dominant Macrothrombocytopenia Tubb1-Related

Articles related to Autosomal Dominant Macrothrombocytopenia Tubb1-Related:

# Title Authors PMID Year
1
A Glanzmann thrombasthenia family associated with a TUBB1-related macrothrombocytopenia. 5
31565851 2019
2
Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders. 5
28983057 2018
3
TUBB1 mutation disrupting microtubule assembly impairs proplatelet formation and results in congenital macrothrombocytopenia. 5
24344610 2014
4
Mutation of the beta1-tubulin gene associated with congenital macrothrombocytopenia affecting microtubule assembly. 5
18849486 2009

Variations for Autosomal Dominant Macrothrombocytopenia Tubb1-Related

ClinVar genetic disease variations for Autosomal Dominant Macrothrombocytopenia Tubb1-Related:

5 (show all 34)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TUBB1 NM_030773.4(TUBB1):c.952C>T (p.Arg318Trp) SNV Pathogenic
425 rs121918555 GRCh37: 20:57599434-57599434
GRCh38: 20:59024379-59024379
2 TUBB1 NM_030773.4(TUBB1):c.1267C>T (p.Gln423Ter) SNV Pathogenic
1677273 GRCh37: 20:57599749-57599749
GRCh38: 20:59024694-59024694
3 TUBB1 NM_030773.4(TUBB1):c.35del (p.Cys12fs) DEL Pathogenic
586966 rs773248042 GRCh37: 20:57594612-57594612
GRCh38: 20:59019557-59019557
4 TUBB1 NM_030773.4(TUBB1):c.806G>A (p.Gly269Asp) SNV Pathogenic
1703807 GRCh37: 20:57599288-57599288
GRCh38: 20:59024233-59024233
5 TUBB1 NM_030773.4(TUBB1):c.779T>C (p.Phe260Ser) SNV Pathogenic/Likely Pathogenic
372810 rs1057517996 GRCh37: 20:57599261-57599261
GRCh38: 20:59024206-59024206
6 TUBB1 NM_030773.4(TUBB1):c.57+1G>A SNV Likely Pathogenic
1028901 rs376073390 GRCh37: 20:57594635-57594635
GRCh38: 20:59019580-59019580
7 TUBB1 NM_030773.4(TUBB1):c.436G>A (p.Gly146Arg) SNV Likely Pathogenic
627071 rs371852125 GRCh37: 20:57598918-57598918
GRCh38: 20:59023863-59023863
8 TUBB1 NM_030773.4(TUBB1):c.1241_1243del (p.Asn414del) DEL Likely Pathogenic
1703809 GRCh37: 20:57599722-57599724
GRCh38: 20:59024667-59024669
9 TUBB1 NM_030773.4(TUBB1):c.726C>G (p.Phe242Leu) SNV Likely Pathogenic
1684388 GRCh37: 20:57599208-57599208
GRCh38: 20:59024153-59024153
10 TUBB1 NM_030773.4(TUBB1):c.166+1G>C SNV Likely Pathogenic
1709749 GRCh37: 20:57598009-57598009
GRCh38: 20:59022954-59022954
11 TUBB1 NM_030773.4(TUBB1):c.326G>A (p.Gly109Glu) SNV Conflicting Interpretations Of Pathogenicity
626929 rs41303899 GRCh37: 20:57598808-57598808
GRCh38: 20:59023753-59023753
12 TUBB1 NM_030773.4(TUBB1):c.769A>G (p.Met257Val) SNV Uncertain Significance
1708983 GRCh37: 20:57599251-57599251
GRCh38: 20:59024196-59024196
13 TUBB1 NM_030773.4(TUBB1):c.745G>C (p.Asp249His) SNV Uncertain Significance
1684382 GRCh37: 20:57599227-57599227
GRCh38: 20:59024172-59024172
14 TUBB1 NM_030773.4(TUBB1):c.170G>A (p.Arg57Lys) SNV Uncertain Significance
1703806 GRCh37: 20:57598548-57598548
GRCh38: 20:59023493-59023493
15 TUBB1 NM_030773.4(TUBB1):c.890G>A (p.Arg297His) SNV Uncertain Significance
1684368 GRCh37: 20:57599372-57599372
GRCh38: 20:59024317-59024317
16 TUBB1 NM_030773.4(TUBB1):c.-88G>C SNV Uncertain Significance
1684360 GRCh37: 20:57594490-57594490
GRCh38: 20:59019435-59019435
17 TUBB1 NM_030773.4(TUBB1):c.1199G>A (p.Ser400Asn) SNV Uncertain Significance
1684355 GRCh37: 20:57599681-57599681
GRCh38: 20:59024626-59024626
18 TUBB1 NM_030773.4(TUBB1):c.1075C>T (p.Arg359Trp) SNV Uncertain Significance
377103 rs140943896 GRCh37: 20:57599557-57599557
GRCh38: 20:59024502-59024502
19 TUBB1 NM_030773.4(TUBB1):c.319A>C (p.Thr107Pro) SNV Uncertain Significance
1677274 GRCh37: 20:57598801-57598801
GRCh38: 20:59023746-59023746
20 TUBB1 NM_030773.4(TUBB1):c.721C>T (p.Arg241Trp) SNV Uncertain Significance
988864 rs368923302 GRCh37: 20:57599203-57599203
GRCh38: 20:59024148-59024148
21 TUBB1 NM_030773.4(TUBB1):c.37G>A (p.Gly13Ser) SNV Uncertain Significance
1684404 GRCh37: 20:57594614-57594614
GRCh38: 20:59019559-59019559
22 TUBB1 NM_030773.4(TUBB1):c.421G>A (p.Gly141Arg) SNV Uncertain Significance
1684400 GRCh37: 20:57598903-57598903
GRCh38: 20:59023848-59023848
23 TUBB1 NM_030773.4(TUBB1):c.423G>A (p.Gly141=) SNV Uncertain Significance
1684393 GRCh37: 20:57598905-57598905
GRCh38: 20:59023850-59023850
24 TUBB1 NM_030773.4(TUBB1):c.850C>T (p.Leu284Phe) SNV Uncertain Significance
1328166 GRCh37: 20:57599332-57599332
GRCh38: 20:59024277-59024277
25 TUBB1 NM_030773.4(TUBB1):c.388C>G (p.Leu130Val) SNV Uncertain Significance
1676726 GRCh37: 20:57598870-57598870
GRCh38: 20:59023815-59023815
26 TUBB1 NM_030773.4(TUBB1):c.167-7T>C SNV Uncertain Significance
1676730 GRCh37: 20:57598538-57598538
GRCh38: 20:59023483-59023483
27 TUBB1 NM_030773.4(TUBB1):c.1036C>T (p.Pro346Ser) SNV Uncertain Significance
1677272 GRCh37: 20:57599518-57599518
GRCh38: 20:59024463-59024463
28 TUBB1 NM_030773.4(TUBB1):c.1219G>A (p.Glu407Lys) SNV Uncertain Significance
1684414 GRCh37: 20:57599701-57599701
GRCh38: 20:59024646-59024646
29 TUBB1 NM_030773.4(TUBB1):c.1060T>C (p.Cys354Arg) SNV Uncertain Significance
1684416 GRCh37: 20:57599542-57599542
GRCh38: 20:59024487-59024487
30 TUBB1 NM_030773.4(TUBB1):c.1041C>A (p.Asn347Lys) SNV Uncertain Significance
1684422 GRCh37: 20:57599523-57599523
GRCh38: 20:59024468-59024468
31 TUBB1 NM_030773.4(TUBB1):c.637C>T (p.Arg213Cys) SNV Uncertain Significance
1684425 GRCh37: 20:57599119-57599119
GRCh38: 20:59024064-59024064
32 TUBB1 NM_030773.4(TUBB1):c.13G>A (p.Val5Ile) SNV Uncertain Significance
988861 rs145280665 GRCh37: 20:57594590-57594590
GRCh38: 20:59019535-59019535
33 TUBB1 NM_030773.4(TUBB1):c.578T>C (p.Ile193Thr) SNV Uncertain Significance
1698752 GRCh37: 20:57599060-57599060
GRCh38: 20:59024005-59024005
34 TUBB1 NM_030773.4(TUBB1):c.827A>G (p.Gln276Arg) SNV Benign
1684375 GRCh37: 20:57599309-57599309
GRCh38: 20:59024254-59024254

Expression for Autosomal Dominant Macrothrombocytopenia Tubb1-Related

Search GEO for disease gene expression data for Autosomal Dominant Macrothrombocytopenia Tubb1-Related.

Pathways for Autosomal Dominant Macrothrombocytopenia Tubb1-Related

GO Terms for Autosomal Dominant Macrothrombocytopenia Tubb1-Related

Sources for Autosomal Dominant Macrothrombocytopenia Tubb1-Related

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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