MAD-TUBB1
MCID: MCR125
MIFTS: 18

Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related (MAD-TUBB1)

Categories: Blood diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related

MalaCards integrated aliases for Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related:

Name: Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related 57 72 13 39
Autosomal Dominant Macrothrombocytopenia Tubb1-Related 12 29 6
Mad-Tubb1 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
as of 2009, one family has been reported
no clinical manifestations were noted (incidental laboratory finding)


HPO:

31
macrothrombocytopenia, autosomal dominant, tubb1-related:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0090102
OMIM® 57 613112
MeSH 44 D013921
ICD10 32 D69.4
MedGen 41 C2751259
SNOMED-CT via HPO 68 263681008

Summaries for Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related

Disease Ontology : 12 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 : Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related, is also known as autosomal dominant macrothrombocytopenia tubb1-related. An important gene associated with Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related is TUBB1 (Tubulin Beta 1 Class VI). Related phenotype is macrothrombocytopenia.

UniProtKB/Swiss-Prot : 72 Macrothrombocytopenia, autosomal dominant, TUBB1-related: A congenital blood disorder characterized by increased platelet size and decreased number of circulating platelets.

More information from OMIM: 613112

Related Diseases for Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related

Diseases in the Autosomal Dominant Macrothrombocytopenia family:

Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related

Symptoms & Phenotypes for Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related

Human phenotypes related to Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related:

31
# Description HPO Frequency HPO Source Accession
1 macrothrombocytopenia 31 HP:0040185

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Hematology:
macrothrombocytopenia
large, spherical platelets
decreased number of platelets
decreased beta-tubulin in platelets
megakaryocytes show large and irregular bleb protrusions
more

Clinical features from OMIM®:

613112 (Updated 05-Apr-2021)

Drugs & Therapeutics for Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related

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

Genetic Tests for Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related

Genetic tests related to Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related:

# Genetic test Affiliating Genes
1 Autosomal Dominant Macrothrombocytopenia Tubb1-Related 29 TUBB1

Anatomical Context for Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related

Publications for Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related

Articles related to Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related:

# Title Authors PMID Year
1
Mutation of the beta1-tubulin gene associated with congenital macrothrombocytopenia affecting microtubule assembly. 57 6
18849486 2009
2
Mutation in beta1-tubulin correlates with macrothrombocytopenia in Cavalier King Charles Spaniels. 57
18466252 2008
3
The TUBB1 Q43P functional polymorphism reduces the risk of cardiovascular disease in men by modulating platelet function and structure. 57
15956286 2005

Variations for Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TUBB1 NM_030773.3(TUBB1):c.952C>T (p.Arg318Trp) SNV Pathogenic 425 rs121918555 GRCh37: 20:57599434-57599434
GRCh38: 20:59024379-59024379
2 TUBB1 NM_030773.3(TUBB1):c.779T>C (p.Phe260Ser) SNV Pathogenic 372810 rs1057517996 GRCh37: 20:57599261-57599261
GRCh38: 20:59024206-59024206
3 TUBB1 NM_030773.4(TUBB1):c.57+1G>A SNV Likely pathogenic 1028901 GRCh37: 20:57594635-57594635
GRCh38: 20:59019580-59019580
4 TUBB1 NM_030773.3(TUBB1):c.326G>A (p.Gly109Glu) SNV Uncertain significance 626929 rs41303899 GRCh37: 20:57598808-57598808
GRCh38: 20:59023753-59023753

UniProtKB/Swiss-Prot genetic disease variations for Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related:

72
# Symbol AA change Variation ID SNP ID
1 TUBB1 p.Arg318Trp VAR_063411 rs121918555

Expression for Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related

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

Pathways for Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related

GO Terms for Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related

Sources for Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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