Hereditary Thrombocytopenia with Normal Platelets disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: HRD112 MIFTS: 21	Hereditary Thrombocytopenia with Normal Platelets Categories: Blood diseases, Rare diseases
Genes Variations Related diseases Publications Pathways Expand all tables

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Aliases & Classifications for Hereditary Thrombocytopenia with Normal Platelets

MalaCards integrated aliases for Hereditary Thrombocytopenia with Normal Platelets:

Name: Hereditary Thrombocytopenia with Normal Platelets ⁵⁸

Characteristics:

Orphanet epidemiological data:

⁵⁸

hereditary thrombocytopenia with normal platelets
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Age of onset: All ages;

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Blood diseases

See all MalaCards categories (disease lists)

ICD10: ³³

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

Orphanet: ⁵⁸

Rare haematological diseases

External Ids:

ICD10 via Orphanet ³³ D69.4

Orphanet ⁵⁸ ORPHA268322

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Summaries for Hereditary Thrombocytopenia with Normal Platelets

MalaCards based summary : Hereditary Thrombocytopenia with Normal Platelets is related to platelet disorder, familial, with associated myeloid malignancy and blood platelet disease. An important gene associated with Hereditary Thrombocytopenia with Normal Platelets is ANKRD26 (Ankyrin Repeat Domain 26), and among its related pathways/superpathways are T cell receptor signaling pathway and TCR signaling (REACTOME).

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Related Diseases for Hereditary Thrombocytopenia with Normal Platelets

Diseases in the Autosomal Thrombocytopenia with Normal Platelets family:

Hereditary Thrombocytopenia with Normal Platelets

Diseases related to Hereditary Thrombocytopenia with Normal Platelets via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	platelet disorder, familial, with associated myeloid malignancy	11.4
2	blood platelet disease	9.7	WAS ANKRD26
3	blood coagulation disease	9.6	WAS ANKRD26
4	thrombocytopenia	9.0	WAS FYB1 CYCS ANKRD26

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Symptoms & Phenotypes for Hereditary Thrombocytopenia with Normal Platelets

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Drugs & Therapeutics for Hereditary Thrombocytopenia with Normal Platelets

Search Clinical Trials , NIH Clinical Center for Hereditary Thrombocytopenia with Normal Platelets

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Genetic Tests for Hereditary Thrombocytopenia with Normal Platelets

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Anatomical Context for Hereditary Thrombocytopenia with Normal Platelets

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Publications for Hereditary Thrombocytopenia with Normal Platelets

Articles related to Hereditary Thrombocytopenia with Normal Platelets:

(show all 13)

#	Title	Authors	PMID	Year
1	A novel CYCS mutation in the α-helix of the CYCS C-terminal domain causes non-syndromic thrombocytopenia. ⁶	Uchiyama Y...Mizuguchi T	30051457	2018
2	Deleterious mutation in the FYB gene is associated with congenital autosomal recessive small-platelet thrombocytopenia. ⁶	Levin C...Shalev S	25876182	2015
3	Recessive thrombocytopenia likely due to a homozygous pathogenic variant in the FYB gene: case report. ⁶	Hamamy H...Antonarakis SE	25516138	2014
4	Mutations of cytochrome c identified in patients with thrombocytopenia THC4 affect both apoptosis and cellular bioenergetics. ⁶	De Rocco D...Savoia A	24326104	2014
5	Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2. ⁶	Pippucci T...Balduini CL	21211618	2011
6	A mutation in the acyl-coenzyme A binding domain-containing protein 5 gene (ACBD5 ) identified in autosomal dominant thrombocytopenia. ⁶	Punzo F...Perrotta S	20626622	2010
7	A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia. ⁶	Morison IM...Ledgerwood EC	18345000	2008
8	X-linked thrombocytopenia in a girl. ⁶	Inoue H...Eguchi M	12199801	2002
9	Missense C168T in the Wiskott--Aldrich Syndrome protein gene is a common mutation in X-linked thrombocytopenia. ⁶	Ho LL...Joshua D	11167787	2001
10	An autosomal dominant thrombocytopenia gene maps to chromosomal region 10p. ⁶	Savoia A...Iolascon A	10521306	1999
11	Scanning of the Wiskott-Aldrich syndrome (WAS) gene: identification of 18 novel alterations including a possible mutation hotspot at Arg86 resulting in thrombocytopenia, a mild WAS phenotype. ⁶	Kwan SP...Rosen FS	8595430	1995
12	The mouse homolog of the Wiskott-Aldrich syndrome protein (WASP) gene is highly conserved and maps near the scurfy (sf) mutation on the X chromosome. ⁶	Derry JM...Francke U	8666397	1995
13	X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene. ⁶	Villa A...Sacco MG	7795648	1995

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Genes for Hereditary Thrombocytopenia with Normal Platelets

Genes related to Hereditary Thrombocytopenia with Normal Platelets (4 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	ANKRD26	Ankyrin Repeat Domain 26	Protein Coding	425	Pathogenic/Likely pathogenic ⁶ Pathogenic ⁶ Likely pathogenic ⁶	21211618 10521306 20626622
2	WAS	WASP Actin Nucleation Promoting Factor	Protein Coding	425	Pathogenic ⁶ Likely pathogenic ⁶	8595430 12199801 8666397 (more) 11167787 7795648
3	CYCS	Cytochrome C, Somatic	Protein Coding	400	Pathogenic ⁶	30051457 24326104 18345000
4	FYB1	FYN Binding Protein 1	Protein Coding	400	Pathogenic ⁶	25516138 25876182

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Variations for Hereditary Thrombocytopenia with Normal Platelets

ClinVar genetic disease variations for Hereditary Thrombocytopenia with Normal Platelets:

⁶ (show top 50) (show all 249)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	WAS	NM_000377.2(WAS):c.167C>T (p.Ala56Val)	SNV	Pathogenic	11116	rs132630269	X:48542706-48542706	X:48684317-48684317
2	WAS	NM_000377.2(WAS):c.707C>G (p.Ala236Gly)	SNV	Pathogenic	11117	rs132630270	X:48545317-48545317	X:48686928-48686928
3	WAS	WAS, 1-BP INS, 512C	Insertion	Pathogenic	11118
4	WAS	NM_000377.2(WAS):c.134C>T (p.Thr45Met)	SNV	Pathogenic	11123	rs132630273	X:48542673-48542673	X:48684284-48684284
5	WAS	WAS, IVS6DS, G-A, +5	SNV	Pathogenic	11129
6	CYCS	NM_018947.5(CYCS):c.124G>A (p.Gly42Ser)	SNV	Pathogenic	16917	rs121918552	7:25163615-25163615	7:25123996-25123996
7	ANKRD26	NM_014915.2(ANKRD26):c.-134G>A	SNV	Pathogenic	30853	rs863223318	10:27389389-27389389	10:27100460-27100460
8	ANKRD26	ANKRD26, -127A-T	SNV	Pathogenic	30854
9	ANKRD26	ANKRD26, -128G-A	SNV	Pathogenic	30855
10	CYCS	NM_018947.5(CYCS):c.145T>C (p.Tyr49His)	SNV	Pathogenic	180656	rs886037737	7:25163594-25163594	7:25123975-25123975
11	WAS	NM_000377.2(WAS):c.777+1G>A	SNV	Pathogenic	372546	rs1057517845	X:48546486-48546486	X:48688097-48688097
12	WAS	NM_000377.2(WAS):c.413G>C (p.Arg138Pro)	SNV	Pathogenic	495847	rs139265251	X:48544175-48544175	X:48685786-48685786
13	WAS	NM_000377.2(WAS):c.223G>A (p.Val75Met)	SNV	Pathogenic	265289	rs782290433	X:48542762-48542762	X:48684373-48684373
14	WAS	NM_000377.2(WAS):c.257G>A (p.Arg86His)	SNV	Pathogenic	11115	rs132630268	X:48542796-48542796	X:48684407-48684407
15	WAS	NM_000377.2(WAS):c.271C>T (p.Gln91Ter)	SNV	Pathogenic	528221	rs1557006354	X:48542810-48542810	X:48684421-48684421
16	WAS	NM_000377.2(WAS):c.91G>A (p.Glu31Lys)	SNV	Pathogenic	528222	rs1557006239	X:48542333-48542333	X:48683944-48683944
17	FYB1	NM_001465.6(FYB1):c.393G>A (p.Trp131Ter)	SNV	Pathogenic	417971	rs745672593	5:39202670-39202670	5:39202568-39202568
18	FYB1	NM_001465.6(FYB1):c.1383_1384AT[1] (p.Thr461_Tyr462insTer)	Microsatellite	Pathogenic	417970	rs1060505056	5:39138767-39138768	5:39138665-39138666
19	WAS	NM_000377.2(WAS):c.1001del (p.Gly334fs)	Deletion	Pathogenic	574368	rs1569494025	X:48547113-48547113	X:48688724-48688724
20	WAS	NM_000377.2(WAS):c.734+2T>A	SNV	Pathogenic	577637	rs1569493877	X:48545346-48545346	X:48686957-48686957
21	CYCS	NM_018947.5(CYCS):c.301_303del (p.Lys101del)	Deletion	Pathogenic	599385	rs1562515878	7:25163335-25163337	7:25123716-25123718
22	WAS	NM_000377.2(WAS):c.223G>A (p.Val75Met)	SNV	Pathogenic	265289	rs782290433	X:48542762-48542762	X:48684373-48684373
23	WAS	NM_000377.2(WAS):c.660_664del (p.Ser221_Pro222insTer)	Deletion	Pathogenic	641614	rs1602178184	X:48545268-48545272	X:48686879-48686883
24	WAS	NM_000377.2(WAS):c.470_471del (p.Arg157fs)	Deletion	Pathogenic	643344	rs1602177562	X:48544340-48544341	X:48685951-48685952
25	WAS	NM_000377.2(WAS):c.631C>T (p.Arg211Ter)	SNV	Pathogenic	647830	rs1602178165	X:48545241-48545241	X:48686852-48686852
26	WAS	NM_000377.2(WAS):c.803delinsTT (p.Arg268fs)	Indel	Pathogenic	652576	rs1602178952	X:48546714-48546714	X:48688325-48688325
27	WAS	NM_000377.3(WAS):c.858del (p.Ser287fs)	Deletion	Pathogenic	656534	rs1602179000	X:48546768-48546768	X:48688379-48688379
28	WAS	NM_000377.2(WAS):c.355G>T (p.Gly119Ter)	SNV	Pathogenic	660964	rs1602177243	X:48544017-48544017	X:48685628-48685628
29	WAS	NM_000377.2(WAS):c.961C>T (p.Arg321Ter)	SNV	Pathogenic	449515	rs1557007123	X:48547078-48547078	X:48688689-48688689
30	WAS	NM_000377.2(WAS):c.-37_132+35del	Deletion	Pathogenic	663734	rs1602176146	X:48542204-48542407	X:48683815-48684018
31	WAS	NM_000377.3(WAS):c.1266_1267insG	Duplication	Pathogenic	495844	rs1557007312	X:48547383-48547384	X:48688994-48688995
32	WAS	NM_000377.3(WAS):c.1423C>T (p.Gln475Ter)	SNV	Pathogenic	829893	rs1602180058	X:48547793-48547793	X:48689404-48689404
33	WAS	NC_000023.10:g.(?_48542233)_(48542384_?)del	Deletion	Pathogenic	832668		X:48542233-48542384
34	WAS	NM_000377.2(WAS):c.134C>T (p.Thr45Met)	SNV	Pathogenic	11123	rs132630273	X:48542673-48542673	X:48684284-48684284
35	WAS	NM_000377.3(WAS):c.436del (p.Gln146fs)	Deletion	Pathogenic	853574		X:48544198-48544198	X:48685809-48685809
36	WAS	NM_000377.3(WAS):c.238C>T (p.Gln80Ter)	SNV	Pathogenic	853840		X:48542777-48542777	X:48684388-48684388
37	WAS	NM_000377.2(WAS):c.881T>C (p.Ile294Thr)	SNV	Pathogenic	29967	rs387906717	X:48546792-48546792	X:48688403-48688403
38	WAS	NM_000377.3(WAS):c.1058dup (p.Pro354fs)	Duplication	Pathogenic	861115		X:48547170-48547171	X:48688781-48688782
39	WAS	NM_000377.3(WAS):c.311_312insAA (p.Leu105fs)	Insertion	Pathogenic	862503		X:48543972-48543973	X:48685583-48685584
40	WAS	NM_000377.2(WAS):c.1453G>A (p.Asp485Asn)	SNV	Pathogenic	418541	rs1064793293	X:48547823-48547823	X:48689434-48689434
41	WAS	NM_000377.3(WAS):c.1090C>T (p.Arg364Ter)	SNV	Pathogenic	839782		X:48547207-48547207	X:48688818-48688818
42	WAS	NM_000377.3(WAS):c.35dup (p.Arg13fs)	Duplication	Pathogenic	843981		X:48542272-48542273	X:48683883-48683884
43	WAS	NM_000377.3(WAS):c.1266_1267insG	Duplication	Pathogenic	495844	rs1557007312	X:48547383-48547384	X:48688994-48688995
44	WAS	NM_000377.3(WAS):c.256C>T (p.Arg86Cys)	SNV	Pathogenic	936334		X:48542795-48542795	X:48684406-48684406
45	WAS	NM_000377.3(WAS):c.121C>T (p.Arg41Ter)	SNV	Pathogenic	945596		X:48542363-48542363	X:48683974-48683974
46	WAS	NM_000377.3(WAS):c.302_303insC (p.Tyr102fs)	Insertion	Pathogenic	947868		X:48543964-48543965	X:48685575-48685576
47	WAS	NM_000377.3(WAS):c.1001dup (p.Gly334_Asn335insTer)	Duplication	Pathogenic	949013		X:48547112-48547113	X:48688723-48688724
48	WAS	NM_000377.3(WAS):c.692del (p.Lys231fs)	Deletion	Pathogenic	949935		X:48545301-48545301	X:48686912-48686912
49	WAS	NM_000377.2(WAS):c.37C>T (p.Arg13Ter)	SNV	Pathogenic	36911	rs193922415	X:48542279-48542279	X:48683890-48683890
50	WAS	NM_000377.2(WAS):c.11del (p.Gly4fs)	Deletion	Pathogenic	11132	rs587776745	X:48542249-48542249	X:48683860-48683860

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Expression for Hereditary Thrombocytopenia with Normal Platelets

Search GEO for disease gene expression data for Hereditary Thrombocytopenia with Normal Platelets.

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Pathways for Hereditary Thrombocytopenia with Normal Platelets

Pathways related to Hereditary Thrombocytopenia with Normal Platelets according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	T cell receptor signaling pathway ³⁶ Show member pathways PD-L1 expression and PD-1 checkpoint pathway in cancer ³⁶ T-Cell antigen Receptor (TCR) Signaling Pathway ¹ T-Cell antigen Receptor (TCR) pathway during Staphylococcus aureus infection ¹	11.86	WAS FYB1
2	TCR signaling (REACTOME) ⁶⁵ Show member pathways Downstream TCR signaling ⁶⁵	11.61	WAS FYB1
3	Yersinia infection ³⁶	11.29	WAS FYB1
4	Translocation of ZAP-70 to Immunological synapse ⁶⁵ Show member pathways Generation of second messenger molecules ⁶⁵ PD-1 signaling ⁶⁵ Phosphorylation of CD3 and TCR zeta chains ⁶⁵	10.99	WAS FYB1
5	TCR signaling in naive CD4+ T cells ¹ Show member pathways TCR signaling in naive CD8+ T cells ¹	10.66	WAS FYB1

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GO Terms for Hereditary Thrombocytopenia with Normal Platelets

Cellular components related to Hereditary Thrombocytopenia with Normal Platelets according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	actin cytoskeleton	GO:0015629	8.62	WAS FYB1

Biological processes related to Hereditary Thrombocytopenia with Normal Platelets according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	T cell receptor signaling pathway	GO:0050852	8.62	WAS FYB1

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Sources for Hereditary Thrombocytopenia with Normal Platelets

¹ BioSystems

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²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

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²⁷ GEO DataSets

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⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

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⁶⁷ SNOMED-CT

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⁶⁹ TGDB

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⁷¹ UMLS

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⁷⁴ Wikipedia