Autosomal Dominant Macrothrombocytopenia Tubb1-Related disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Blood diseases

See all MalaCards categories (disease lists)

ICD10: ³¹

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Coagulation defects, purpura and other haemorrhagic conditions

Purpura and other haemorrhagic conditions

Other primary thrombocytopenia

External Ids:

Disease Ontology ¹¹ DOID:0090102

ICD10 ³¹ D69.4

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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).

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Related Diseases for Autosomal Dominant Macrothrombocytopenia Tubb1-Related

Diseases in the Autosomal Dominant Macrothrombocytopenia family:

Autosomal Dominant Macrothrombocytopenia Tubb1-Related

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Symptoms & Phenotypes for Autosomal Dominant Macrothrombocytopenia Tubb1-Related

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Drugs & Therapeutics for Autosomal Dominant Macrothrombocytopenia Tubb1-Related

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

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Genetic Tests for Autosomal Dominant Macrothrombocytopenia Tubb1-Related

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Anatomical Context for Autosomal Dominant Macrothrombocytopenia Tubb1-Related

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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	Guillet B...Nurden AT	31565851	2019
2	Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders. ⁵	Bastida JM...Gonzalez-Porras JR	28983057	2018
3	TUBB1 mutation disrupting microtubule assembly impairs proplatelet formation and results in congenital macrothrombocytopenia. ⁵	Kunishima S...Saito H	24344610	2014
4	Mutation of the beta1-tubulin gene associated with congenital macrothrombocytopenia affecting microtubule assembly. ⁵	Kunishima S...Saito H	18849486	2009

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Genes for Autosomal Dominant Macrothrombocytopenia Tubb1-Related

Genes related to Autosomal Dominant Macrothrombocytopenia Tubb1-Related (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	TUBB1	Tubulin Beta 1 Class VI	Protein Coding	425	Pathogenic ⁵ Likely pathogenic ⁵	18849486 24344610 28983057 (more) 31565851

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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

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Expression for Autosomal Dominant Macrothrombocytopenia Tubb1-Related

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

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Pathways for Autosomal Dominant Macrothrombocytopenia Tubb1-Related

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GO Terms for Autosomal Dominant Macrothrombocytopenia Tubb1-Related

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Sources for Autosomal Dominant Macrothrombocytopenia Tubb1-Related

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: ATS521 MIFTS: 12	Autosomal Dominant Macrothrombocytopenia Tubb1-Related Categories: Blood diseases, Genetic diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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