MCID: HRD112
MIFTS: 21

Hereditary Thrombocytopenia with Normal Platelets

Categories: Blood diseases, Rare diseases

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:

Orphanet: 58  
Rare haematological diseases


External Ids:

ICD10 via Orphanet 33 D69.4
Orphanet 58 ORPHA268322

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).

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

Symptoms & Phenotypes for Hereditary Thrombocytopenia with Normal Platelets

Drugs & Therapeutics for Hereditary Thrombocytopenia with Normal Platelets

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

Genetic Tests for Hereditary Thrombocytopenia with Normal Platelets

Anatomical Context for Hereditary Thrombocytopenia with Normal Platelets

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
30051457 2018
2
Deleterious mutation in the FYB gene is associated with congenital autosomal recessive small-platelet thrombocytopenia. 6
25876182 2015
3
Recessive thrombocytopenia likely due to a homozygous pathogenic variant in the FYB gene: case report. 6
25516138 2014
4
Mutations of cytochrome c identified in patients with thrombocytopenia THC4 affect both apoptosis and cellular bioenergetics. 6
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
21211618 2011
6
A mutation in the acyl-coenzyme A binding domain-containing protein 5 gene (ACBD5 ) identified in autosomal dominant thrombocytopenia. 6
20626622 2010
7
A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia. 6
18345000 2008
8
X-linked thrombocytopenia in a girl. 6
12199801 2002
9
Missense C168T in the Wiskott--Aldrich Syndrome protein gene is a common mutation in X-linked thrombocytopenia. 6
11167787 2001
10
An autosomal dominant thrombocytopenia gene maps to chromosomal region 10p. 6
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
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
8666397 1995
13
X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene. 6
7795648 1995

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

Expression for Hereditary Thrombocytopenia with Normal Platelets

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

Pathways for Hereditary Thrombocytopenia with Normal Platelets

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

Sources for Hereditary Thrombocytopenia with Normal Platelets

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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