THC1
MCID: THR071
MIFTS: 50

Thrombocytopenia 1 (THC1)

Categories: Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Thrombocytopenia 1

MalaCards integrated aliases for Thrombocytopenia 1:

Name: Thrombocytopenia 1 57 53 25 74 55 72
Thrombocytopenia, X-Linked 57 53 29 13 6
Xlt 57 53 25 74
Thrombocytopenia, X-Linked, Intermittent 57 29 6
Thc1 57 53 74
X-Linked Thrombocytopenia with Normal Platelets 53 59
X-Linked Thrombocytopenia 53 25
Thrombocytopenia, X-Linked; Xlt 57
Thrombocytopenia, X-Linked, 1 57
Thrombocytopenia X-Linked 1 74
Thrombocytopenia X-Linked 74
Thrombocytopenia, Type 1 40
Thc 57

Characteristics:

OMIM:

57
Inheritance:
x-linked recessive

Miscellaneous:
allelic to wiskott-aldrich syndrome () and severe congenital x-linked neutropenia ()


HPO:

32
thrombocytopenia 1:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 57 313900
MeSH 44 D013921
ICD10 via Orphanet 34 D69.4
Orphanet 59 ORPHA852
UMLS 72 C1839163

Summaries for Thrombocytopenia 1

Genetics Home Reference : 25 X-linked thrombocytopenia is a bleeding disorder that primarily affects males. This condition is characterized by a blood cell abnormality called thrombocytopenia, which is a shortage in the number of blood cell fragments involved in clotting (platelets). Affected individuals often have abnormally small platelets as well, a condition called microthrombocytopenia. X-linked thrombocytopenia can cause individuals to bruise easily or have episodes of prolonged bleeding following minor trauma or even in the absence of injury (spontaneous bleeding). Some people with this condition experience spontaneous bleeding in the brain (cerebral hemorrhage), which can cause brain damage that can be life-threatening. Some people with X-linked thrombocytopenia also have patches of red, irritated skin (eczema) or an increased susceptibility to infections. In severe cases, additional features can develop, such as cancer or autoimmune disorders, which occur when the immune system malfunctions and attacks the body's own tissues and organs. It is unclear, however, if people with these features have X-linked thrombocytopenia or a more severe disorder with similar signs and symptoms called Wiskott-Aldrich syndrome. Some people have a mild form of the disorder called intermittent thrombocytopenia. These individuals have normal platelet production at times with episodes of thrombocytopenia.

MalaCards based summary : Thrombocytopenia 1, also known as thrombocytopenia, x-linked, is related to blood platelet disease and deficiency anemia, and has symptoms including petechiae of skin An important gene associated with Thrombocytopenia 1 is WAS (WASP Actin Nucleation Promoting Factor), and among its related pathways/superpathways are Factors involved in megakaryocyte development and platelet production and Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. The drugs Fludarabine and Busulfan have been mentioned in the context of this disorder. Affiliated tissues include brain, skin and liver, and related phenotypes are abnormality of the musculature and epistaxis

OMIM : 57 Hereditary nonsyndromic thrombocytopenia is characterized by decreased numbers of platelets and bleeding tendency (summary by Villa et al., 1995). (313900)

UniProtKB/Swiss-Prot : 74 Thrombocytopenia 1: Thrombocytopenia is defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting.

Related Diseases for Thrombocytopenia 1

Diseases in the Thrombocytopenia family:

Thrombocytopenia 2 Thrombocytopenia 3
Thrombocytopenia 1 Thrombocytopenia 4
Thrombocytopenia 5 Thrombocytopenia 6
Acquired Thrombocytopenia Thrombocytopenia Due to Platelet Alloimmunization
Primary Thrombocytopenia

Diseases related to Thrombocytopenia 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 129)
# Related Disease Score Top Affiliating Genes
1 blood platelet disease 29.9 WAS THPO
2 deficiency anemia 29.3 THPO GATA1
3 myelofibrosis 29.1 THPO GATA1
4 thrombocytopenia 27.7 WAS THPO HOXA11 GATA1
5 thrombocytopenia, x-linked, with or without dyserythropoietic anemia 12.6
6 radioulnar synostosis with amegakaryocytic thrombocytopenia 1 12.4
7 thrombocytopenia with beta-thalassemia, x-linked 12.1
8 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 12.0
9 wiskott-aldrich syndrome 11.8
10 thrombocytopenia, paris-trousseau type 11.3
11 spasticity 10.6
12 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.3
13 cannabis dependence 10.3
14 thalassemia 10.3
15 cannabis abuse 10.3
16 gata1-related x-linked cytopenia 10.3
17 was-related disorders 10.2
18 multiple sclerosis 10.2
19 anxiety 10.2
20 intraocular pressure quantitative trait locus 10.2
21 withdrawal disorder 10.2
22 pain agnosia 10.2
23 visual epilepsy 10.2
24 substance abuse 10.2
25 seizure disorder 10.2
26 lymphoproliferative syndrome 10.2
27 neutropenia 10.2
28 thrombocytopenia due to platelet alloimmunization 10.2
29 iga glomerulonephritis 10.2
30 purpura 10.2
31 splenomegaly 10.2
32 hereditary thrombocytopenia with normal platelets 10.2
33 pertussis 10.1
34 psychotic disorder 10.1
35 chronic pain 10.1
36 rapidly involuting congenital hemangioma 10.1
37 autoimmune disease 10.1
38 neutropenia, severe congenital, x-linked 10.1
39 hematopoietic stem cell transplantation 10.1
40 arteries, anomalies of 10.0
41 huntington disease 10.0
42 attention deficit-hyperactivity disorder 10.0
43 neural tube defects 10.0
44 cystic fibrosis 10.0
45 anorexia nervosa 10.0
46 hyperlipoproteinemia, type iii 10.0
47 coronary artery anomaly 10.0
48 tic disorder 10.0
49 peripheral nervous system disease 10.0
50 cataract 10.0

Graphical network of the top 20 diseases related to Thrombocytopenia 1:



Diseases related to Thrombocytopenia 1

Symptoms & Phenotypes for Thrombocytopenia 1

Human phenotypes related to Thrombocytopenia 1:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 abnormality of the musculature 32 HP:0003011
2 epistaxis 32 HP:0000421
3 bruising susceptibility 32 HP:0000978
4 eczema 32 HP:0000964
5 petechiae 32 HP:0000967
6 joint hemorrhage 32 HP:0005261
7 congenital thrombocytopenia 32 HP:0001905
8 increased circulating total ige level 32 HP:0003212
9 increased circulating iga level 32 HP:0003261
10 intermittent thrombocytopenia 32 HP:0004854
11 decreased mean platelet volume 32 HP:0005537

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Nose:
epistaxis

Hematology:
congenital thrombocytopenia
intermittent thrombocytopenia
small platelets
decreased mean platelet volume (mpv)

Muscle Soft Tissue:
hematoma

Skin Nails Hair Skin:
petechiae
easy bruisability
transient eczema

Skeletal Limbs:
hemarthroses

Immunology:
elevated serum ige
elevated serum iga

Clinical features from OMIM:

313900

UMLS symptoms related to Thrombocytopenia 1:


petechiae of skin

Drugs & Therapeutics for Thrombocytopenia 1

Drugs for Thrombocytopenia 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fludarabine Approved Phase 1, Phase 2 21679-14-1, 75607-67-9 30751
2
Busulfan Approved, Investigational Phase 1, Phase 2 55-98-1 2478
3 Alkylating Agents Phase 1, Phase 2
4 Thymoglobulin Phase 1, Phase 2
5 Immunosuppressive Agents Phase 1, Phase 2
6 Antimetabolites, Antineoplastic Phase 1, Phase 2
7 Antimetabolites Phase 1, Phase 2
8 Antineoplastic Agents, Alkylating Phase 1, Phase 2
9 Immunologic Factors Phase 1, Phase 2
10 Liver Extracts Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Phase I/II Study of Reduced Toxicity Myeloablative Conditioning Regimen for Wiskott-Aldrich Syndrome Completed NCT00885833 Phase 1, Phase 2 Fludarabine, Busulfan, Thymoglobulin
2 Effects Of Eltrombopag On Thrombocytopenia, Platelet Function and Bleeding In Patients With Wiskott-Aldrich Syndrome/X-Linked Thrombocytopenia. Terminated NCT00909363 Phase 2 Promacta

Search NIH Clinical Center for Thrombocytopenia 1

Genetic Tests for Thrombocytopenia 1

Genetic tests related to Thrombocytopenia 1:

# Genetic test Affiliating Genes
1 Thrombocytopenia, X-Linked 29 WAS
2 Thrombocytopenia, X-Linked, Intermittent 29

Anatomical Context for Thrombocytopenia 1

MalaCards organs/tissues related to Thrombocytopenia 1:

41
Brain, Skin, Liver, Breast, Lung, Kidney, Spleen

Publications for Thrombocytopenia 1

Articles related to Thrombocytopenia 1:

(show top 50) (show all 166)
# Title Authors PMID Year
1
Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia. 9 8 71
11877312 2002
2
X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene. 9 8 71
7795648 1995
3
X-linked thrombocytopenia in a girl. 8 71
12199801 2002
4
Genetics of familial forms of thrombocytopenia. 8
22886561 2012
5
WAS-Related Disorders 71
20301357 2004
6
Missense C168T in the Wiskott--Aldrich Syndrome protein gene is a common mutation in X-linked thrombocytopenia. 71
11167787 2001
7
High prevalence of nonsense, frame shift, and splice-site mutations in 16 patients with full-blown Wiskott-Aldrich syndrome. 8
7579329 1995
8
The Wiskott-Aldrich syndrome and X-linked congenital thrombocytopenia are caused by mutations of the same gene. 8
7579347 1995
9
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. 71
8595430 1995
10
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. 71
8666397 1995
11
X linked recessive thrombocytopenia. 8
8301658 1993
12
Hereditary X-linked thrombocytopenia maps to the same chromosomal region as the Wiskott-Aldrich syndrome. 8
2904289 1988
13
Sex-linked hereditary thrombocytopenia with immunological defects. 8
1184018 1975
14
X-linked idiopathic thrombocytopenia. 8
4859587 1974
15
X-linked thrombocytopenic purpura. I. Clinical and genetic studies of a kindred. 8
4624439 1972
16
Sex-linked hereditary thrombocytopenia as a variant of Wiskott-Aldrich syndrome. 8
4168739 1967
17
Inherited thrombocytopenia. 8
4161668 1965
18
FAMILIAL SEX-LINKED THROMBOCYTOPENIA. 8
14181113 1964
19
GATA transcription factors in hematologic disease. 9 38
16158817 2005
20
Tissue uptake of circulating thrombopoietin is increased in immune-mediated compared with irradiated thrombocytopenic mice. 9 38
10194430 1999
21
Eltrombopag for the treatment of inherited thrombocytopenias: a phase 2 clinical trial. 38
31273088 2019
22
THROMBOCYTOPENIA AS A RISK FACTOR FOR RETINOPATHY OF PREMATURITY. 38
29370028 2019
23
Donor-derived multiorgan transmission of mixed P. malariae and P. ovale infection: Impact of globalization on post-transplant infections. 38
29863799 2018
24
A phase I study of panobinostat in pediatric patients with refractory solid tumors, including CNS tumors. 38
29987369 2018
25
A phase I and pharmacokinetic study of taladegib, a Smoothened inhibitor, in Japanese patients with advanced solid tumors. 38
29453627 2018
26
Preliminary data on utility of subcutaneous unfractionated heparin in patients with deep cerebral venous thrombosis. 38
28620756 2017
27
Dengue fever in travellers and risk of local spreading: case reports from Southern Italy and literature update. 38
28072887 2017
28
[A phase Ⅰ dose-escalating trial of pegylated liposomal doxorubicin in combination with cyclophosphamide, vincristine and prednisone for aggressive non-Hodgkin lymphoma]. 38
28088967 2016
29
[The methods of diagnostic of immune thrombocytopenia of fetus and newborn]. 38
30615338 2016
30
A phase II trial of bevacizumab and everolimus as treatment for patients with refractory, progressive intracranial meningioma. 38
27311730 2016
31
Efficacy of leflunomide for treatment of refractory inflammatory colorectal polyps in 15 Miniature Dachshunds. 38
26460312 2016
32
[The clinical characteristics of twenty-five cases of acute HIV-1 infection in China]. 38
26675022 2015
33
A phase I/II trial of second-line chemotherapy with paclitaxel and irinotecan in fluoropyrimidine- and platinum-pretreated patients with advanced gastric cancer. 38
25860347 2015
34
A phase Ib study of linsitinib (OSI-906), a dual inhibitor of IGF-1R and IR tyrosine kinase, in combination with everolimus as treatment for patients with refractory metastatic colorectal cancer. 38
25335932 2015
35
A phase II study of capecitabine plus cisplatin in metastatic triple-negative breast cancer patients pretreated with anthracyclines and taxanes. 38
26466918 2015
36
Intravenous and subcutaneous immunoglobulin replacement: a two-way road. Optimizing healthcare quality in patients with primary immunodeficiencies. 38
25190197 2014
37
A phase I/II trial of hydroxychloroquine in conjunction with radiation therapy and concurrent and adjuvant temozolomide in patients with newly diagnosed glioblastoma multiforme. 38
24991840 2014
38
Severe fever with thrombocytopenia syndrome in children: a case report. 38
24993119 2014
39
Oxaliplatin hypersensitivity: evaluation, implications of skin testing, and desensitization. 38
24565767 2014
40
[Occurence, etiology and clinical significance of trombocytopenia in pregnancy]. 38
24372435 2013
41
Prevalence of thrombocytopenia in Egyptian patients with chronic hepatitis C virus. 38
24640862 2013
42
Behçet's disease and pregnancy. 38
23780828 2013
43
Phase II study of bevacizumab and temsirolimus combination therapy for recurrent glioblastoma multiforme. 38
23564811 2013
44
A pilot open-label phase II trial of rituximab for non-criteria manifestations of antiphospholipid syndrome. 38
23124321 2013
45
Idiopathic thrombocytopenia with iron deficiency anemia. 38
25512714 2013
46
A phase I study with an expanded cohort to assess feasibility of intravenous docetaxel, intraperitoneal carboplatin and intraperitoneal paclitaxel in patients with previously untreated ovarian, fallopian tube or primary peritoneal carcinoma: a Gynecologic Oncology Group study. 38
22943879 2012
47
Final results of an international retrospective observational study in patients with advanced breast cancer treated with oral vinorelbine-based chemotherapy. 38
23060583 2012
48
A phase I study with an expanded cohort to assess the feasibility of intravenous paclitaxel, intraperitoneal carboplatin and intraperitoneal paclitaxel in patients with untreated ovarian, fallopian tube or primary peritoneal carcinoma: a Gynecologic Oncology Group study. 38
22155262 2012
49
Ipilimumab in pretreated patients with metastatic uveal melanoma: safety and clinical efficacy. 38
21833591 2012
50
Change in platelet count in patients with hypersplenism subjected to liver transplantation. 38
21952701 2011

Variations for Thrombocytopenia 1

ClinVar genetic disease variations for Thrombocytopenia 1:

6 (show top 50) (show all 51)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 WAS NM_000377.2(WAS): c.777+1G> A single nucleotide variant Pathogenic rs1057517845 X:48546486-48546486 X:48688097-48688097
2 WAS NM_000377.2(WAS): c.961C> T (p.Arg321Ter) single nucleotide variant Pathogenic rs1557007123 X:48547078-48547078 X:48688689-48688689
3 WAS NM_000377.2(WAS): c.413G> C (p.Arg138Pro) single nucleotide variant Pathogenic rs139265251 X:48544175-48544175 X:48685786-48685786
4 WAS NM_000377.2(WAS): c.271C> T (p.Gln91Ter) single nucleotide variant Pathogenic rs1557006354 X:48542810-48542810 X:48684421-48684421
5 WAS NM_000377.2(WAS): c.257G> A (p.Arg86His) single nucleotide variant Pathogenic rs132630268 X:48542796-48542796 X:48684407-48684407
6 WAS NM_000377.2(WAS): c.167C> T (p.Ala56Val) single nucleotide variant Pathogenic rs132630269 X:48542706-48542706 X:48684317-48684317
7 WAS NM_000377.2(WAS): c.707C> G (p.Ala236Gly) single nucleotide variant Pathogenic rs132630270 X:48545317-48545317 X:48686928-48686928
8 WAS WAS, 1-BP INS, 512C insertion Pathogenic
9 WAS NM_000377.2(WAS): c.134C> T (p.Thr45Met) single nucleotide variant Pathogenic rs132630273 X:48542673-48542673 X:48684284-48684284
10 WAS NM_000377.2(WAS): c.173C> G (p.Pro58Arg) single nucleotide variant Pathogenic rs132630275 X:48542712-48542712 X:48684323-48684323
11 WAS NM_000377.2(WAS): c.1442T> A (p.Ile481Asn) single nucleotide variant Pathogenic rs132630276 X:48547812-48547812 X:48689423-48689423
12 WAS WAS, IVS6DS, G-A, +5 single nucleotide variant Pathogenic
13 WAS NM_000377.2(WAS): c.1001del (p.Gly334fs) deletion Pathogenic X:48547118-48547118 X:48688729-48688729
14 WAS NM_000377.2(WAS): c.223G> A (p.Val75Met) single nucleotide variant Pathogenic rs782290433 X:48542762-48542762 X:48684373-48684373
15 WAS NM_000377.2(WAS): c.734+2T> A single nucleotide variant Pathogenic X:48545346-48545346 X:48686957-48686957
16 WAS NM_000377.2(WAS): c.470_471del (p.Arg157fs) deletion Pathogenic X:48544340-48544341 X:48685952-48685953
17 WAS NM_000377.2(WAS): c.631C> T (p.Arg211Ter) single nucleotide variant Pathogenic X:48545241-48545241 X:48686852-48686852
18 WAS NM_000377.2(WAS): c.660_664del (p.Ser221_Pro222insTer) deletion Pathogenic X:48545268-48545272 X:48686881-48686885
19 WAS NM_000377.2(WAS): c.355G> T (p.Gly119Ter) single nucleotide variant Pathogenic X:48544017-48544017 X:48685628-48685628
20 WAS NM_000377.2(WAS): c.803delinsTT (p.Arg268fs) indel Pathogenic X:48546714-48546714 X:48688325-48688325
21 WAS NM_000377.2(WAS): c.858del (p.Ser287fs) deletion Pathogenic X:48546769-48546769 X:48688380-48688380
22 WAS NM_000377.2(WAS): c.-37_132+35del deletion Pathogenic X:48542204-48542407 X:48683817-48684020
23 WAS NM_000377.2(WAS): c.91G> A (p.Glu31Lys) single nucleotide variant Pathogenic/Likely pathogenic rs1557006239 X:48542333-48542333 X:48683944-48683944
24 WAS NM_000377.2(WAS): c.538C> A (p.His180Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs145040665 X:48544502-48544502 X:48686113-48686113
25 WAS NM_000377.2(WAS): c.266G> A (p.Gly89Asp) single nucleotide variant Uncertain significance X:48542805-48542805 X:48684416-48684416
26 WAS NM_000377.2(WAS): c.344A> G (p.His115Arg) single nucleotide variant Uncertain significance X:48544006-48544006 X:48685617-48685617
27 WAS NM_000377.2(WAS): c.689A> G (p.Lys230Arg) single nucleotide variant Uncertain significance X:48545299-48545299 X:48686910-48686910
28 WAS NM_000377.2(WAS): c.482C> A (p.Pro161Gln) single nucleotide variant Uncertain significance X:48544353-48544353 X:48685964-48685964
29 WAS NM_000377.2(WAS): c.1057_1059CCA[1] (p.Pro354del) short repeat Uncertain significance X:48547177-48547179 X:48688788-48688790
30 WAS NM_000377.2(WAS): c.49G> T (p.Ala17Ser) single nucleotide variant Uncertain significance X:48542291-48542291 X:48683902-48683902
31 WAS NM_000377.2(WAS): c.1255C> A (p.Leu419Met) single nucleotide variant Uncertain significance X:48547372-48547372 X:48688983-48688983
32 WAS NM_000377.2(WAS): c.97C> G (p.Gln33Glu) single nucleotide variant Uncertain significance X:48542339-48542339 X:48683950-48683950
33 WAS NM_000377.2(WAS): c.565_566delinsAG (p.Pro189Arg) indel Uncertain significance X:48545175-48545176 X:48686786-48686787
34 WAS NM_000377.2(WAS): c.689_691AGA[2] (p.Lys232del) short repeat Uncertain significance X:48545305-48545307 X:48686916-48686918
35 WAS NM_000377.2(WAS): c.985C> G (p.Pro329Ala) single nucleotide variant Uncertain significance rs1557007136 X:48547102-48547102 X:48688713-48688713
36 WAS NM_000377.2(WAS): c.1208C> T (p.Pro403Leu) single nucleotide variant Uncertain significance rs782666797 X:48547325-48547325 X:48688936-48688936
37 WAS NM_000377.2(WAS): c.1188_1196ACCGCCACC[1] (p.Pro402_Pro404del) short repeat Uncertain significance rs193922412 X:48547314-48547322 X:48688925-48688933
38 WAS NM_000377.2(WAS): c.463+3G> C single nucleotide variant Uncertain significance X:48544228-48544228 X:48685839-48685839
39 WAS NM_000377.2(WAS): c.559+8C> G single nucleotide variant Uncertain significance X:48544531-48544531 X:48686142-48686142
40 WAS NM_000377.2(WAS): c.1196C> G (p.Pro399Arg) single nucleotide variant Uncertain significance X:48547313-48547313 X:48688924-48688924
41 WAS NM_000377.2(WAS): c.459T> G (p.Ser153Arg) single nucleotide variant Uncertain significance X:48544221-48544221 X:48685832-48685832
42 WAS NM_000377.2(WAS): c.679C> T (p.Arg227Cys) single nucleotide variant Uncertain significance X:48545289-48545289 X:48686900-48686900
43 WAS NM_000377.2(WAS): c.360+8A> G single nucleotide variant Likely benign rs1557006508 X:48544030-48544030 X:48685641-48685641
44 WAS NM_000377.2(WAS): c.897G> A (p.Gly299=) single nucleotide variant Likely benign rs782793103 X:48546808-48546808 X:48688419-48688419
45 WAS NM_000377.2(WAS): c.273+10_273+11dup duplication Benign/Likely benign rs58371799 X:48542822-48542823 X:48684433-48684434
46 WAS NM_000377.2(WAS): c.995T> C (p.Val332Ala) single nucleotide variant Benign/Likely benign rs2737799 X:48547112-48547112 X:48688723-48688723
47 WAS NM_000377.2(WAS): c.1378C> T (p.Pro460Ser) single nucleotide variant Benign/Likely benign rs143885622 X:48547748-48547748 X:48689359-48689359
48 WAS NM_000377.2(WAS): c.391G> A (p.Glu131Lys) single nucleotide variant Benign/Likely benign rs146220228 X:48544153-48544153 X:48685764-48685764
49 WAS NM_000377.2(WAS): c.273+11dupC duplication Benign/Likely benign rs58371799 X:48542823-48542823 X:48684434-48684434
50 WAS NM_000377.2(WAS): c.873C> T (p.Tyr291=) single nucleotide variant Benign/Likely benign rs149123892 X:48546784-48546784 X:48688395-48688395

UniProtKB/Swiss-Prot genetic disease variations for Thrombocytopenia 1:

74
# Symbol AA change Variation ID SNP ID
1 WAS p.Leu27Phe VAR_005823
2 WAS p.Thr48Ile VAR_005826
3 WAS p.Ala56Val VAR_005827 rs132630269
4 WAS p.Val75Met VAR_005828 rs782290433
5 WAS p.Ala236Glu VAR_005837
6 WAS p.Arg477Lys VAR_005839
7 WAS p.Thr45Met VAR_008106 rs132630273
8 WAS p.Tyr83Cys VAR_008108
9 WAS p.Pro58Arg VAR_033255 rs132630275
10 WAS p.Ile481Asn VAR_033257 rs132630276

Expression for Thrombocytopenia 1

Search GEO for disease gene expression data for Thrombocytopenia 1.

Pathways for Thrombocytopenia 1

GO Terms for Thrombocytopenia 1

Cellular components related to Thrombocytopenia 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcriptional repressor complex GO:0017053 9.16 ZFPM1 GATA1
2 protein-DNA complex GO:0032993 8.96 HOXA11 GATA1
3 transcription factor complex GO:0005667 8.8 ZFPM1 HOXA11 GATA1

Biological processes related to Thrombocytopenia 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 blood coagulation GO:0007596 9.5 ZFPM1 WAS GATA1
2 male gonad development GO:0008584 9.48 HOXA11 GATA1
3 regulation of megakaryocyte differentiation GO:0045652 9.46 ZFPM1 GATA1
4 erythrocyte differentiation GO:0030218 9.43 ZFPM1 GATA1
5 myeloid cell differentiation GO:0030099 9.4 THPO GATA1
6 platelet formation GO:0030220 9.37 ZFPM1 GATA1
7 embryonic hemopoiesis GO:0035162 9.26 ZFPM1 GATA1
8 megakaryocyte differentiation GO:0030219 9.16 ZFPM1 GATA1
9 transcriptional activation by promoter-enhancer looping GO:0071733 8.96 ZFPM1 GATA1
10 regulation of definitive erythrocyte differentiation GO:0010724 8.62 ZFPM1 GATA1

Molecular functions related to Thrombocytopenia 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II transcription factor binding GO:0001085 8.62 ZFPM1 GATA1

Sources for Thrombocytopenia 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....