MCID: MCR125
MIFTS: 15

Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related

Categories: Genetic diseases, Blood 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 75 29 13 6 40
Autosomal Dominant Macrothrombocytopenia Tubb1-Related 12
Mad-Tubb1 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
macrothrombocytopenia, autosomal dominant, tubb1-related:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 613112
Disease Ontology 12 DOID:0090102
ICD10 33 D69.4
MedGen 42 C2751259
MeSH 44 D013921
SNOMED-CT via HPO 69 263681008

Summaries for Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related

Disease Ontology : 12 A thrombocytopenia characterized by autosomal dominant inheritance of macrothrombocytopenia with normal platelet aggregation that has material basis in mutation in the 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 : 75 Macrothrombocytopenia, autosomal dominant, TUBB1-related: A congenital blood disorder characterized by increased platelet size and decreased number of circulating platelets.

Description 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

Symptoms via clinical synopsis from OMIM:

57
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

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

32
# Description HPO Frequency HPO Source Accession
1 macrothrombocytopenia 32 HP:0040185

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 Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related 29 TUBB1

Anatomical Context for Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related

Publications for Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related

Variations for Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related

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

75
# Symbol AA change Variation ID SNP ID
1 TUBB1 p.Arg318Trp VAR_063411 rs121918555

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TUBB1 NM_030773.3(TUBB1): c.952C> T (p.Arg318Trp) single nucleotide variant Pathogenic rs121918555 GRCh37 Chromosome 20, 57599434: 57599434
2 TUBB1 NM_030773.3(TUBB1): c.952C> T (p.Arg318Trp) single nucleotide variant Pathogenic rs121918555 GRCh38 Chromosome 20, 59024379: 59024379

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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