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 56 52 25 73 54 71
X-Linked Thrombocytopenia with Normal Platelets 52 58 29 6
Xlt 56 52 25 73
Thrombocytopenia, X-Linked, Intermittent 56 29 6
Thrombocytopenia, X-Linked 56 52 13
Thc1 56 52 73
X-Linked Thrombocytopenia 52 25
Thrombocytopenia, X-Linked; Xlt 56
Thrombocytopenia, X-Linked, 1 56
Thrombocytopenia X-Linked 1 73
Thrombocytopenia X-Linked 73
Thrombocytopenia, Type 1 39
Thc 56

Characteristics:

OMIM:

56
Inheritance:
x-linked recessive

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


HPO:

31
thrombocytopenia 1:
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

OMIM 56 313900
MeSH 43 D013921
ICD10 via Orphanet 33 D69.4
Orphanet 58 ORPHA852
UMLS 71 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 cells 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 x-linked thrombocytopenia with normal platelets, is related to thrombocytopenia with beta-thalassemia, x-linked and wiskott-aldrich syndrome, 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 Cells 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 epistaxis and eczema

OMIM : 56 Hereditary nonsyndromic thrombocytopenia is characterized by decreased numbers of platelets and bleeding tendency (summary by Villa et al., 1995). (313900)

UniProtKB/Swiss-Prot : 73 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 Ankrd26-Related Thrombocytopenia

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

(show top 50) (show all 132)
# Related Disease Score Top Affiliating Genes
1 thrombocytopenia with beta-thalassemia, x-linked 32.7 ZFPM1 GATA1
2 wiskott-aldrich syndrome 32.3 WAS THPO
3 blood platelet disease 29.8 WAS THPO
4 gray platelet syndrome 29.4 THPO GATA1
5 neutropenia 29.3 WAS THPO GATA1
6 thrombocytopenia 27.3 ZFPM1 WAS THPO HOXA11 GATA1
7 thrombocytopenia, x-linked, with or without dyserythropoietic anemia 12.6
8 radioulnar synostosis with amegakaryocytic thrombocytopenia 1 12.5
9 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 12.0
10 thrombocytopenia, paris-trousseau type 11.3
11 spasticity 10.7
12 cannabis dependence 10.4
13 thalassemia 10.3
14 cannabis abuse 10.3
15 substance abuse 10.2
16 was-related disorders 10.2
17 multiple sclerosis 10.2
18 intraocular pressure quantitative trait locus 10.2
19 withdrawal disorder 10.2
20 chronic pain 10.2
21 lymphoproliferative syndrome 10.2
22 thrombocytopenia due to platelet alloimmunization 10.2
23 iga glomerulonephritis 10.2
24 purpura 10.2
25 splenomegaly 10.2
26 hereditary thrombocytopenia with normal platelets 10.2
27 anxiety 10.1
28 pain agnosia 10.1
29 pertussis 10.1
30 visual epilepsy 10.1
31 psychotic disorder 10.1
32 cytokine deficiency 10.1
33 hypotonia 10.1
34 seizure disorder 10.1
35 rapidly involuting congenital hemangioma 10.1
36 autoimmune disease 10.1
37 neutropenia, severe congenital, x-linked 10.1
38 alzheimer disease 10.0
39 amyotrophic lateral sclerosis 1 10.0
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 lipoprotein quantitative trait locus 10.0
48 lateral sclerosis 10.0
49 tic disorder 10.0
50 infertility 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:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 epistaxis 31 HP:0000421
2 eczema 31 HP:0000964
3 petechiae 31 HP:0000967
4 bruising susceptibility 31 HP:0000978
5 abnormality of the musculature 31 HP:0003011
6 increased circulating iga level 31 HP:0003261
7 joint hemorrhage 31 HP:0005261
8 congenital thrombocytopenia 31 HP:0001905
9 increased circulating ige level 31 HP:0003212
10 intermittent thrombocytopenia 31 HP:0004854
11 decreased mean platelet volume 31 HP:0005537

Symptoms via clinical synopsis from OMIM:

56
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 7)
# 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 Immunologic Factors Phase 1, Phase 2
4 Alkylating Agents Phase 1, Phase 2
5 Immunosuppressive Agents Phase 1, Phase 2
6 Thymoglobulin Phase 1, Phase 2
7 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 X-Linked Thrombocytopenia with Normal Platelets 29 WAS
2 Thrombocytopenia, X-Linked, Intermittent 29

Anatomical Context for Thrombocytopenia 1

MalaCards organs/tissues related to Thrombocytopenia 1:

40
Brain, Skin, Liver, Breast, Lung, Spleen, Kidney

Publications for Thrombocytopenia 1

Articles related to Thrombocytopenia 1:

(show top 50) (show all 169)
# Title Authors PMID Year
1
Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia. 56 6 54
11877312 2002
2
X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene. 56 6 54
7795648 1995
3
X-linked thrombocytopenia in a girl. 56 6
12199801 2002
4
Genetics of familial forms of thrombocytopenia. 56
22886561 2012
5
WAS-Related Disorders 6
20301357 2004
6
Missense C168T in the Wiskott--Aldrich Syndrome protein gene is a common mutation in X-linked thrombocytopenia. 6
11167787 2001
7
High prevalence of nonsense, frame shift, and splice-site mutations in 16 patients with full-blown Wiskott-Aldrich syndrome. 56
7579329 1995
8
The Wiskott-Aldrich syndrome and X-linked congenital thrombocytopenia are caused by mutations of the same gene. 56
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. 6
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. 6
8666397 1995
11
X linked recessive thrombocytopenia. 56
8301658 1993
12
Hereditary X-linked thrombocytopenia maps to the same chromosomal region as the Wiskott-Aldrich syndrome. 56
2904289 1988
13
Sex-linked hereditary thrombocytopenia with immunological defects. 56
1184018 1975
14
X-linked idiopathic thrombocytopenia. 56
4859587 1974
15
X-linked thrombocytopenic purpura. I. Clinical and genetic studies of a kindred. 56
4624439 1972
16
Sex-linked hereditary thrombocytopenia as a variant of Wiskott-Aldrich syndrome. 56
4168739 1967
17
Inherited thrombocytopenia. 56
4161668 1965
18
FAMILIAL SEX-LINKED THROMBOCYTOPENIA. 56
14181113 1964
19
Tissue uptake of circulating thrombopoietin is increased in immune-mediated compared with irradiated thrombocytopenic mice. 54 61
10194430 1999
20
A phase 2 study of valproic acid and radiation, followed by maintenance valproic acid and bevacizumab in children with newly diagnosed diffuse intrinsic pontine glioma or high-grade glioma. 61
32285998 2020
21
A Case of Vancomycin-Induced Immune Thrombocytopenia. 61
32499980 2020
22
[Clinical effect of continuous blood purification in treatment of multiple organ dysfunction syndrome in neonates]. 61
31948521 2020
23
Cabazitaxel plus carboplatin for the treatment of men with metastatic castration-resistant prostate cancers: a randomised, open-label, phase 1-2 trial. 61
31515154 2019
24
THROMBOCYTOPENIA AS A RISK FACTOR FOR RETINOPATHY OF PREMATURITY. 61
29370028 2019
25
Donor-derived multiorgan transmission of mixed P. malariae and P. ovale infection: Impact of globalization on post-transplant infections. 61
29863799 2018
26
A phase I study of panobinostat in pediatric patients with refractory solid tumors, including CNS tumors. 61
29987369 2018
27
A phase I and pharmacokinetic study of taladegib, a Smoothened inhibitor, in Japanese patients with advanced solid tumors. 61
29453627 2018
28
Preliminary data on utility of subcutaneous unfractionated heparin in patients with deep cerebral venous thrombosis. 61
28620756 2017
29
Dengue fever in travellers and risk of local spreading: case reports from Southern Italy and literature update. 61
28072887 2017
30
[A phase Ⅰ dose-escalating trial of pegylated liposomal doxorubicin in combination with cyclophosphamide, vincristine and prednisone for aggressive non-Hodgkin lymphoma]. 61
28088967 2016
31
[The methods of diagnostic of immune thrombocytopenia of fetus and newborn]. 61
30615338 2016
32
A phase II trial of bevacizumab and everolimus as treatment for patients with refractory, progressive intracranial meningioma. 61
27311730 2016
33
Efficacy of leflunomide for treatment of refractory inflammatory colorectal polyps in 15 Miniature Dachshunds. 61
26460312 2016
34
[The clinical characteristics of twenty-five cases of acute HIV-1 infection in China]. 61
26675022 2015
35
A phase I/II trial of second-line chemotherapy with paclitaxel and irinotecan in fluoropyrimidine- and platinum-pretreated patients with advanced gastric cancer. 61
25860347 2015
36
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. 61
25335932 2015
37
A phase II study of capecitabine plus cisplatin in metastatic triple-negative breast cancer patients pretreated with anthracyclines and taxanes. 61
26466918 2015
38
Intravenous and subcutaneous immunoglobulin replacement: a two-way road. Optimizing healthcare quality in patients with primary immunodeficiencies. 61
25190197 2014
39
A phase I/II trial of hydroxychloroquine in conjunction with radiation therapy and concurrent and adjuvant temozolomide in patients with newly diagnosed glioblastoma multiforme. 61
24991840 2014
40
Severe fever with thrombocytopenia syndrome in children: a case report. 61
24993119 2014
41
Oxaliplatin hypersensitivity: evaluation, implications of skin testing, and desensitization. 61
24565767 2014
42
[Occurence, etiology and clinical significance of trombocytopenia in pregnancy]. 61
24372435 2013
43
Prevalence of thrombocytopenia in Egyptian patients with chronic hepatitis C virus. 61
24640862 2013
44
Behçet's disease and pregnancy. 61
23780828 2013
45
Phase II study of bevacizumab and temsirolimus combination therapy for recurrent glioblastoma multiforme. 61
23564811 2013
46
A pilot open-label phase II trial of rituximab for non-criteria manifestations of antiphospholipid syndrome. 61
23124321 2013
47
Idiopathic thrombocytopenia with iron deficiency anemia. 61
25512714 2013
48
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. 61
22943879 2012
49
Final results of an international retrospective observational study in patients with advanced breast cancer treated with oral vinorelbine-based chemotherapy. 61
23060583 2012
50
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. 61
22155262 2012

Variations for Thrombocytopenia 1

ClinVar genetic disease variations for Thrombocytopenia 1:

6 (show top 50) (show all 86) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 WAS NM_000377.2(WAS):c.1453G>A (p.Asp485Asn)SNV Pathogenic 418541 rs1064793293 X:48547823-48547823 X:48689434-48689434
2 WAS NM_000377.2(WAS):c.961C>T (p.Arg321Ter)SNV Pathogenic 449515 rs1557007123 X:48547078-48547078 X:48688689-48688689
3 WAS NM_000377.2(WAS):c.413G>C (p.Arg138Pro)SNV Pathogenic 495847 rs139265251 X:48544175-48544175 X:48685786-48685786
4 WAS NM_000377.3(WAS):c.1266_1267insGduplication Pathogenic 495844 rs1557007312 X:48547383-48547384 X:48688994-48688995
5 WAS NM_000377.2(WAS):c.271C>T (p.Gln91Ter)SNV Pathogenic 528221 rs1557006354 X:48542810-48542810 X:48684421-48684421
6 WAS NM_000377.2(WAS):c.1001del (p.Gly334fs)deletion Pathogenic 574368 rs1569494025 X:48547113-48547113 X:48688724-48688724
7 WAS NM_000377.2(WAS):c.734+2T>ASNV Pathogenic 577637 rs1569493877 X:48545346-48545346 X:48686957-48686957
8 WAS NM_000377.2(WAS):c.470_471del (p.Arg157fs)deletion Pathogenic 643344 X:48544340-48544341 X:48685951-48685952
9 WAS NM_000377.2(WAS):c.631C>T (p.Arg211Ter)SNV Pathogenic 647830 X:48545241-48545241 X:48686852-48686852
10 WAS NM_000377.2(WAS):c.660_664del (p.Ser221_Pro222insTer)deletion Pathogenic 641614 X:48545268-48545272 X:48686879-48686883
11 WAS NM_000377.2(WAS):c.355G>T (p.Gly119Ter)SNV Pathogenic 660964 X:48544017-48544017 X:48685628-48685628
12 WAS NM_000377.2(WAS):c.803delinsTT (p.Arg268fs)indel Pathogenic 652576 X:48546714-48546714 X:48688325-48688325
13 WAS NM_000377.3(WAS):c.858del (p.Ser287fs)deletion Pathogenic 656534 X:48546768-48546768 X:48688379-48688379
14 WAS NM_000377.2(WAS):c.-37_132+35deldeletion Pathogenic 663734 X:48542204-48542407 X:48683815-48684018
15 WAS NM_000377.3(WAS):c.1423C>T (p.Gln475Ter)SNV Pathogenic 829893 X:48547793-48547793 X:48689404-48689404
16 WAS NC_000023.10:g.(?_48542233)_(48542384_?)deldeletion Pathogenic 832668 X:48542233-48542384
17 WAS NM_000377.3(WAS):c.35dup (p.Arg13fs)duplication Pathogenic 843981 X:48542272-48542273 X:48683883-48683884
18 WAS NM_000377.3(WAS):c.238C>T (p.Gln80Ter)SNV Pathogenic 853840 X:48542777-48542777 X:48684388-48684388
19 WAS NM_000377.3(WAS):c.311_312insAA (p.Leu105fs)insertion Pathogenic 862503 X:48543972-48543973 X:48685583-48685584
20 WAS NM_000377.3(WAS):c.436del (p.Gln146fs)deletion Pathogenic 853574 X:48544198-48544198 X:48685809-48685809
21 WAS NM_000377.2(WAS):c.257G>A (p.Arg86His)SNV Pathogenic 11115 rs132630268 X:48542796-48542796 X:48684407-48684407
22 WAS NM_000377.2(WAS):c.167C>T (p.Ala56Val)SNV Pathogenic 11116 rs132630269 X:48542706-48542706 X:48684317-48684317
23 WAS NM_000377.2(WAS):c.707C>G (p.Ala236Gly)SNV Pathogenic 11117 rs132630270 X:48545317-48545317 X:48686928-48686928
24 WAS WAS, 1-BP INS, 512Cinsertion Pathogenic 11118
25 WAS NM_000377.2(WAS):c.134C>T (p.Thr45Met)SNV Pathogenic 11123 rs132630273 X:48542673-48542673 X:48684284-48684284
26 WAS NM_000377.2(WAS):c.173C>G (p.Pro58Arg)SNV Pathogenic 11126 rs132630275 X:48542712-48542712 X:48684323-48684323
27 WAS NM_000377.2(WAS):c.1442T>A (p.Ile481Asn)SNV Pathogenic 11127 rs132630276 X:48547812-48547812 X:48689423-48689423
28 WAS WAS, IVS6DS, G-A, +5SNV Pathogenic 11129
29 WAS NM_000377.2(WAS):c.881T>C (p.Ile294Thr)SNV Pathogenic 29967 rs387906717 X:48546792-48546792 X:48688403-48688403
30 WAS NM_000377.3(WAS):c.1058dup (p.Pro354fs)duplication Pathogenic 861115 X:48547170-48547171 X:48688781-48688782
31 WAS NM_000377.3(WAS):c.1090C>T (p.Arg364Ter)SNV Pathogenic 839782 X:48547207-48547207 X:48688818-48688818
32 WAS NM_000377.2(WAS):c.223G>A (p.Val75Met)SNV Pathogenic 265289 rs782290433 X:48542762-48542762 X:48684373-48684373
33 WAS NM_000377.2(WAS):c.777+1G>ASNV Pathogenic 372546 rs1057517845 X:48546486-48546486 X:48688097-48688097
34 WAS NM_000377.2(WAS):c.91G>A (p.Glu31Lys)SNV Pathogenic/Likely pathogenic 528222 rs1557006239 X:48542333-48542333 X:48683944-48683944
35 WAS NM_000377.2(WAS):c.538C>A (p.His180Asn)SNV Conflicting interpretations of pathogenicity 36912 rs145040665 X:48544502-48544502 X:48686113-48686113
36 WAS NM_000377.3(WAS):c.1188_1196ACCGCCACC[1] (p.Pro402_Pro404del)short repeat Conflicting interpretations of pathogenicity 36908 rs193922412 X:48547300-48547308 X:48688911-48688919
37 WAS NM_000377.2(WAS):c.264C>T (p.Tyr88=)SNV Conflicting interpretations of pathogenicity 287856 rs150520117 X:48542803-48542803 X:48684414-48684414
38 WAS NM_000377.2(WAS):c.285G>A (p.Leu95=)SNV Conflicting interpretations of pathogenicity 196259 rs781799471 X:48543947-48543947 X:48685558-48685558
39 WAS NM_000377.3(WAS):c.1174C>A (p.Pro392Thr)SNV Uncertain significance 844565 X:48547291-48547291 X:48688902-48688902
40 WAS NM_000377.3(WAS):c.1252G>A (p.Ala418Thr)SNV Uncertain significance 844715 X:48547369-48547369 X:48688980-48688980
41 WAS NM_000377.3(WAS):c.1310A>C (p.Gln437Pro)SNV Uncertain significance 836794 X:48547427-48547427 X:48689038-48689038
42 WAS NM_000377.3(WAS):c.1477G>A (p.Asp493Asn)SNV Uncertain significance 834399 X:48549521-48549521 X:48691130-48691130
43 WAS NM_000377.3(WAS):c.874G>A (p.Asp292Asn)SNV Uncertain significance 853116 X:48546785-48546785 X:48688396-48688396
44 WAS NM_000377.3(WAS):c.946C>A (p.Pro316Thr)SNV Uncertain significance 863583 X:48547063-48547063 X:48688674-48688674
45 WAS NM_000377.3(WAS):c.70T>C (p.Ser24Pro)SNV Uncertain significance 834695 X:48542312-48542312 X:48683923-48683923
46 WAS NM_000377.3(WAS):c.172C>A (p.Pro58Thr)SNV Uncertain significance 844399 X:48542711-48542711 X:48684322-48684322
47 WAS NC_000023.10:g.(?_48549478)_(48549573_?)dupduplication Uncertain significance 831887 X:48549478-48549573
48 WAS NC_000023.10:g.(?_48542223)_(48549573_?)dupduplication Uncertain significance 831991 X:48542223-48549573
49 WAS NM_000377.2(WAS):c.985C>G (p.Pro329Ala)SNV Uncertain significance 528223 rs1557007136 X:48547102-48547102 X:48688713-48688713
50 WAS NM_000377.2(WAS):c.344A>G (p.His115Arg)SNV Uncertain significance 578369 rs1569493774 X:48544006-48544006 X:48685617-48685617

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

73
# 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

Pathways related to Thrombocytopenia 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.45 ZFPM1 GATA1
2 11.28 THPO GATA1
3 10.85 ZFPM1 GATA1
4 10.44 ZFPM1 GATA1

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:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 blood coagulation GO:0007596 9.54 ZFPM1 WAS GATA1
2 male gonad development GO:0008584 9.49 HOXA11 GATA1
3 regulation of megakaryocyte differentiation GO:0045652 9.48 ZFPM1 GATA1
4 erythrocyte differentiation GO:0030218 9.46 ZFPM1 GATA1
5 myeloid cell differentiation GO:0030099 9.43 THPO GATA1
6 platelet formation GO:0030220 9.4 ZFPM1 GATA1
7 megakaryocyte development GO:0035855 9.32 ZFPM1 THPO
8 embryonic hemopoiesis GO:0035162 9.26 ZFPM1 GATA1
9 megakaryocyte differentiation GO:0030219 9.16 ZFPM1 GATA1
10 transcriptional activation by promoter-enhancer looping GO:0071733 8.96 ZFPM1 GATA1
11 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 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.13 ZFPM1 HOXA11 GATA1
2 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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