THC1
MCID: THR071
MIFTS: 49

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 58 54 26 76 56 74
Thrombocytopenia, X-Linked 58 54 30 13 6
Xlt 58 54 26 76
Thrombocytopenia, X-Linked, Intermittent 58 30 6
Thc1 58 54 76
X-Linked Thrombocytopenia with Normal Platelets 54 60
X-Linked Thrombocytopenia 54 26
Thrombocytopenia, X-Linked; Xlt 58
Thrombocytopenia, X-Linked, 1 58
Thrombocytopenia X-Linked 1 76
Thrombocytopenia, Type 1 ) 41
Thrombocytopenia X-Linked 76
Thc 58

Characteristics:

OMIM:

58
Inheritance:
x-linked recessive

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


HPO:

33
thrombocytopenia 1:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 58 313900
MeSH 45 D013921
ICD10 via Orphanet 35 D69.4
Orphanet 60 ORPHA852
UMLS 74 C1839163

Summaries for Thrombocytopenia 1

Genetics Home Reference : 26 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.

MalaCards based summary : Thrombocytopenia 1, also known as thrombocytopenia, x-linked, is related to myelofibrosis and thrombocytopenia, 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 Liver Extracts and Aldesleukin have been mentioned in the context of this disorder. Affiliated tissues include brain, bone marrow and kidney, and related phenotypes are abnormality of the musculature and epistaxis

OMIM : 58 Hereditary nonsyndromic thrombocytopenia is characterized by decreased numbers of platelets and bleeding tendency (summary by Villa et al., 1995). (313900)

UniProtKB/Swiss-Prot : 76 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
Myh9 Related Thrombocytopenia

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

(show top 50) (show all 62)
# Related Disease Score Top Affiliating Genes
1 myelofibrosis 29.4 GATA1 THPO
2 thrombocytopenia 29.2 GATA1 HOXA11 THPO WAS
3 thrombocytopenia, x-linked, with or without dyserythropoietic anemia 12.5
4 radioulnar synostosis with amegakaryocytic thrombocytopenia 1 12.3
5 thrombocytopenia with beta-thalassemia, x-linked 12.0
6 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 11.9
7 thrombocytopenia, paris-trousseau type 11.2
8 spasticity 10.5
9 multiple sclerosis 10.4
10 thalassemia 10.3
11 iga glomerulonephritis 10.2
12 seizure disorder 10.1
13 hematopoietic stem cell transplantation 10.1
14 schizophrenia 10.0
15 leukemia 10.0
16 legionnaires' disease 10.0
17 streptococcal group a invasive disease 10.0
18 blood platelet disease 10.0 THPO WAS
19 gray platelet syndrome 9.9
20 lymphoproliferative syndrome 9.9
21 kidney disease 9.9
22 wiskott-aldrich syndrome 9.9
23 arteries, anomalies of 9.9
24 leukemia, chronic lymphocytic 2 9.9
25 breast cancer 9.9
26 hypercarotenemia and vitamin a deficiency, autosomal dominant 9.9
27 gilles de la tourette syndrome 9.9
28 leukemia, chronic lymphocytic 9.9
29 prostate cancer 9.9
30 cystic fibrosis 9.9
31 fructose utilization 9.9
32 ocular motor apraxia 9.9
33 epileptic encephalopathy, early infantile, 6 9.9
34 anxiety 9.9
35 intraocular pressure quantitative trait locus 9.9
36 cataract 9.9
37 coronary artery anomaly 9.9
38 withdrawal disorder 9.9
39 lymphocytic leukemia 9.9
40 open-angle glaucoma 9.9
41 keratomalacia 9.9
42 diarrhea 9.9
43 epilepsy 9.9
44 hyperostosis 9.9
45 dermatitis 9.9
46 contact dermatitis 9.9
47 allergic contact dermatitis 9.9
48 cataract-glaucoma 9.9
49 heparin-induced thrombocytopenia 9.9
50 leukemia, b-cell, chronic 9.9

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:

33 (show all 11)
# Description HPO Frequency HPO Source Accession
1 abnormality of the musculature 33 HP:0003011
2 epistaxis 33 HP:0000421
3 bruising susceptibility 33 HP:0000978
4 eczema 33 HP:0000964
5 petechiae 33 HP:0000967
6 joint hemorrhage 33 HP:0005261
7 intermittent thrombocytopenia 33 HP:0004854
8 congenital thrombocytopenia 33 HP:0001905
9 increased circulating total ige level 33 HP:0003212
10 increased circulating iga level 33 HP:0003261
11 decreased mean platelet volume 33 HP:0005537

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Nose:
epistaxis

Hematology:
intermittent thrombocytopenia
small platelets
congenital thrombocytopenia
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 Liver Extracts Phase 2
2
Aldesleukin Approved Phase 1 110942-02-4, 85898-30-2
3 Interleukin-2 Phase 1
4 Analgesics, Non-Narcotic Phase 1
5 Peripheral Nervous System Agents Phase 1
6 Analgesics Phase 1
7 Epidiolex Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Thrombocytopenia and Bleeding in Wiskott-Aldrich Syndrome (WAS) Patients Terminated NCT00909363 Phase 2 Promacta
2 Interleukin-2 Treatment for Wiskott-Aldrich Syndrome Completed NCT00774358 Phase 1 Interleukin-2
3 Cannabis Oil and Radiation Therapy for the Management of Pain Not yet recruiting NCT03763851 Not Applicable

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 30 WAS
2 Thrombocytopenia, X-Linked, Intermittent 30

Anatomical Context for Thrombocytopenia 1

MalaCards organs/tissues related to Thrombocytopenia 1:

42
Brain, Bone Marrow, Kidney, Skin, T Cells, Myeloid, B Cells

Publications for Thrombocytopenia 1

Articles related to Thrombocytopenia 1:

(show top 50) (show all 53)
# Title Authors Year
1
Identification of a Novel Gene Mutation in a Chinese Pedigree with X-linked Thrombocytopenia. ( 30549999 )
2018
2
IgA Nephropathy Complicated with X-linked Thrombocytopenia. ( 29926009 )
2018
3
Chronic nephritis associated with X-linked thrombocytopenia. ( 29549578 )
2018
4
Intermittent low platelet counts hampering diagnosis of X-linked thrombocytopenia in children: report of two unrelated cases and a novel mutation in the gene coding for the Wiskott-Aldrich syndrome protein. ( 28641574 )
2017
5
Hematopoietic Stem Cell Transplantation for X-Linked Thrombocytopenia With Mutations in the WAS gene. ( 25388447 )
2015
6
X-linked thrombocytopenia with thalassemia displays bone marrow reticulin fibrosis and enhanced angiogenesis: comparisons with primary myelofibrosis. ( 25421114 )
2015
7
Broad spectrum of autoantibodies in patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia. ( 26409660 )
2015
8
Wiskott-Aldrich syndrome/X-linked thrombocytopenia in China: Clinical characteristic and genotype-phenotype correlation. ( 25931402 )
2015
9
Effects of eltrombopag on platelet count and platelet activation in Wiskott-Aldrich syndrome/X-linked thrombocytopenia. ( 26224646 )
2015
10
X-linked thrombocytopenia in three males with normal sized platelets due to novel WAS gene mutations. ( 25154619 )
2014
11
X-linked thrombocytopenia causing mutations in WASP (L46P and A47D) impair T cell chemotaxis. ( 25200405 )
2014
12
Successful long-term outcome of kidney transplantation in a patient with X-linked thrombocytopenia: 9-year follow-up. ( 25221901 )
2014
13
Disruption of hSWI/SNF complexes in T cells by WAS mutations distinguishes X-linked thrombocytopenia from Wiskott-Aldrich syndrome. ( 25253772 )
2014
14
Allogeneic bone marrow transplantation appears to ameliorate IgA nephropathy in a patient with X-linked thrombocytopenia. ( 24217816 )
2014
15
Intermittent X-linked thrombocytopenia with a novel WAS gene mutation. ( 24115682 )
2014
16
Aberrant glycosylation of IgA in Wiskott-Aldrich syndrome and X-linked thrombocytopenia. ( 23107152 )
2013
17
X-linked thrombocytopenia in a female with a complex familial pattern of X-chromosome inactivation. ( 23689198 )
2013
18
A case of familial X-linked thrombocytopenia with a novel WAS gene mutation. ( 23807894 )
2013
19
IVS6+5G>A found in Wiskott-Aldrich syndrome and X-linked thrombocytopenia in a Korean family. ( 22038941 )
2012
20
Successful handling of autoimmunity in X-linked thrombocytopenia (XLT) using mycophenolate mofetil. ( 22692965 )
2012
21
Monozygotic twin pair showing discordant phenotype for X-linked thrombocytopenia and Wiskott-Aldrich syndrome: a role for epigenetics? ( 21710275 )
2011
22
Wiskott-Aldrich syndrome mutation in two Turkish siblings with X-linked thrombocytopenia. ( 27264129 )
2011
23
Clinical aspects and genetic analysis of taiwanese patients with wiskott-Aldrich syndrome protein mutation: the first identification of x-linked thrombocytopenia in the chinese with novel mutations. ( 20232122 )
2010
24
X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options. ( 20173115 )
2010
25
Hematopoietic stem cell transplantation for X-linked thrombocytopenia from a mild symptomatic carrier. ( 19684625 )
2010
26
Atypical lymphoproliferative disorder in a patient with X-linked thrombocytopenia. ( 18523994 )
2008
27
Why the disorder induced by GATA1 Arg216Gln mutation should be called "X-linked thrombocytopenia with thalassemia" rather than "X-linked gray platelet syndrome". ( 17881640 )
2007
28
Detection of 28 novel mutations in the Wiskott-Aldrich syndrome and X-linked thrombocytopenia based on multiplex PCR. ( 17400488 )
2007
29
Identification of WASP mutations in 10 Australian families with Wiskott-Aldrich syndrome and X-linked thrombocytopenia. ( 15203732 )
2004
30
IgA nephropathy associated with X-linked thrombocytopenia. ( 14981635 )
2004
31
Transgenic rescue of GATA-1-deficient mice with GATA-1 lacking a FOG-1 association site phenocopies patients with X-linked thrombocytopenia. ( 14656885 )
2004
32
Macrophages of patients with X-linked thrombocytopenia display an attenuated Wiskott-Aldrich syndrome phenotype. ( 12631236 )
2003
33
X-linked thrombocytopenia caused by a mutation in the Wiskott-Aldrich syndrome (WAS) gene that disrupts interaction with the WAS protein (WASP)-interacting protein (WIP). ( 12591280 )
2003
34
Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia. ( 11877312 )
2002
35
X-linked thrombocytopenia in a girl. ( 12199801 )
2002
36
X-linked thrombocytopenia with thalassemia from a mutation in the amino finger of GATA-1 affecting DNA binding rather than FOG-1 interaction. ( 12200364 )
2002
37
Missense C168T in the Wiskott--Aldrich Syndrome protein gene is a common mutation in X-linked thrombocytopenia. ( 11167787 )
2001
38
Protein assays for diagnosis of Wiskott-Aldrich syndrome and X-linked thrombocytopenia. ( 11442475 )
2001
39
X-linked thrombocytopenia caused by a novel mutation of GATA-1. ( 11675338 )
2001
40
X-linked thrombocytopenia identified by flow cytometric demonstration of defective Wiskott-Aldrich syndrome protein in lymphocytes. ( 10691337 )
2000
41
Mutations of the WASP gene in 10 Japanese patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia. ( 10729999 )
2000
42
Mapping of a syndrome of X-linked thrombocytopenia with Thalassemia to band Xp11-12: further evidence of genetic heterogeneity of X-linked thrombocytopenia. ( 10733494 )
2000
43
Unique and recurrent WAS gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia. ( 10575547 )
1999
44
Wiskott-Aldrich syndrome/X-linked thrombocytopenia: WASP gene mutations, protein expression, and phenotype. ( 9326235 )
1997
45
Isolated X-linked thrombocytopenia in two unrelated families is associated with point mutations in the Wiskott-Aldrich syndrome protein gene. ( 8757563 )
1996
46
Mutation spectrum in patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia: identification of twelve different mutations in the WASP gene. ( 8743175 )
1996
47
X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene. ( 7795648 )
1995
48
WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia. ( 8528199 )
1995
49
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. ( 8595430 )
1995
50
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. ( 8666397 )
1995

Variations for Thrombocytopenia 1

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

76
# 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

ClinVar genetic disease variations for Thrombocytopenia 1:

6 (show top 50) (show all 72)
# Gene Variation Type Significance SNP ID Assembly Location
1 WAS NM_000377.2(WAS): c.257G> A (p.Arg86His) single nucleotide variant Pathogenic rs132630268 GRCh37 Chromosome X, 48542796: 48542796
2 WAS NM_000377.2(WAS): c.257G> A (p.Arg86His) single nucleotide variant Pathogenic rs132630268 GRCh38 Chromosome X, 48684407: 48684407
3 WAS NM_000377.2(WAS): c.167C> T (p.Ala56Val) single nucleotide variant Pathogenic rs132630269 GRCh37 Chromosome X, 48542706: 48542706
4 WAS NM_000377.2(WAS): c.167C> T (p.Ala56Val) single nucleotide variant Pathogenic rs132630269 GRCh38 Chromosome X, 48684317: 48684317
5 WAS NM_000377.2(WAS): c.707C> G (p.Ala236Gly) single nucleotide variant Pathogenic rs132630270 GRCh37 Chromosome X, 48545317: 48545317
6 WAS NM_000377.2(WAS): c.707C> G (p.Ala236Gly) single nucleotide variant Pathogenic rs132630270 GRCh38 Chromosome X, 48686928: 48686928
7 WAS WAS, 1-BP INS, 512C insertion Pathogenic
8 WAS NM_000377.2(WAS): c.134C> T (p.Thr45Met) single nucleotide variant Pathogenic rs132630273 GRCh37 Chromosome X, 48542673: 48542673
9 WAS NM_000377.2(WAS): c.134C> T (p.Thr45Met) single nucleotide variant Pathogenic rs132630273 GRCh38 Chromosome X, 48684284: 48684284
10 WAS NM_000377.2(WAS): c.173C> G (p.Pro58Arg) single nucleotide variant Pathogenic rs132630275 GRCh37 Chromosome X, 48542712: 48542712
11 WAS NM_000377.2(WAS): c.173C> G (p.Pro58Arg) single nucleotide variant Pathogenic rs132630275 GRCh38 Chromosome X, 48684323: 48684323
12 WAS NM_000377.2(WAS): c.1442T> A (p.Ile481Asn) single nucleotide variant Pathogenic rs132630276 GRCh37 Chromosome X, 48547812: 48547812
13 WAS NM_000377.2(WAS): c.1442T> A (p.Ile481Asn) single nucleotide variant Pathogenic rs132630276 GRCh38 Chromosome X, 48689423: 48689423
14 WAS WAS, IVS6DS, G-A, +5 single nucleotide variant Pathogenic
15 WAS NM_000377.2(WAS): c.1197_1205delACCGCCACC (p.Pro402_Pro404del) deletion Uncertain significance rs193922412 GRCh37 Chromosome X, 48547314: 48547322
16 WAS NM_000377.2(WAS): c.1197_1205delACCGCCACC (p.Pro402_Pro404del) deletion Uncertain significance rs193922412 GRCh38 Chromosome X, 48688925: 48688933
17 WAS NM_000377.2(WAS): c.273+10_273+11dupCC duplication Benign/Likely benign rs58371799 GRCh37 Chromosome X, 48542822: 48542823
18 WAS NM_000377.2(WAS): c.273+10_273+11dupCC duplication Benign/Likely benign rs58371799 GRCh38 Chromosome X, 48684433: 48684434
19 WAS NM_000377.2(WAS): c.538C> A (p.His180Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs145040665 GRCh37 Chromosome X, 48544502: 48544502
20 WAS NM_000377.2(WAS): c.538C> A (p.His180Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs145040665 GRCh38 Chromosome X, 48686113: 48686113
21 WAS NM_000377.2(WAS): c.995T> C (p.Val332Ala) single nucleotide variant Benign/Likely benign rs2737799 GRCh37 Chromosome X, 48547112: 48547112
22 WAS NM_000377.2(WAS): c.995T> C (p.Val332Ala) single nucleotide variant Benign/Likely benign rs2737799 GRCh38 Chromosome X, 48688723: 48688723
23 WAS NM_000377.2(WAS): c.1378C> T (p.Pro460Ser) single nucleotide variant Benign/Likely benign rs143885622 GRCh37 Chromosome X, 48547748: 48547748
24 WAS NM_000377.2(WAS): c.1378C> T (p.Pro460Ser) single nucleotide variant Benign/Likely benign rs143885622 GRCh38 Chromosome X, 48689359: 48689359
25 WAS NM_000377.2(WAS): c.391G> A (p.Glu131Lys) single nucleotide variant Benign/Likely benign rs146220228 GRCh37 Chromosome X, 48544153: 48544153
26 WAS NM_000377.2(WAS): c.391G> A (p.Glu131Lys) single nucleotide variant Benign/Likely benign rs146220228 GRCh38 Chromosome X, 48685764: 48685764
27 WAS NM_000377.2(WAS): c.273+11dupC duplication Benign/Likely benign rs58371799 GRCh37 Chromosome X, 48542823: 48542823
28 WAS NM_000377.2(WAS): c.273+11dupC duplication Benign/Likely benign rs58371799 GRCh38 Chromosome X, 48684434: 48684434
29 WAS NM_000377.2(WAS): c.873C> T (p.Tyr291=) single nucleotide variant Benign/Likely benign rs149123892 GRCh37 Chromosome X, 48546784: 48546784
30 WAS NM_000377.2(WAS): c.873C> T (p.Tyr291=) single nucleotide variant Benign/Likely benign rs149123892 GRCh38 Chromosome X, 48688395: 48688395
31 WAS NM_000377.2(WAS): c.223G> A (p.Val75Met) single nucleotide variant Pathogenic rs782290433 GRCh37 Chromosome X, 48542762: 48542762
32 WAS NM_000377.2(WAS): c.223G> A (p.Val75Met) single nucleotide variant Pathogenic rs782290433 GRCh38 Chromosome X, 48684373: 48684373
33 WAS NM_000377.2(WAS): c.777+1G> A single nucleotide variant Pathogenic rs1057517845 GRCh37 Chromosome X, 48546486: 48546486
34 WAS NM_000377.2(WAS): c.777+1G> A single nucleotide variant Pathogenic rs1057517845 GRCh38 Chromosome X, 48688097: 48688097
35 WAS NM_000377.2(WAS): c.1208C> T (p.Pro403Leu) single nucleotide variant Uncertain significance rs782666797 GRCh37 Chromosome X, 48547325: 48547325
36 WAS NM_000377.2(WAS): c.1208C> T (p.Pro403Leu) single nucleotide variant Uncertain significance rs782666797 GRCh38 Chromosome X, 48688936: 48688936
37 WAS NM_000377.2(WAS): c.90C> T (p.His30=) single nucleotide variant Benign rs148800063 GRCh37 Chromosome X, 48542332: 48542332
38 WAS NM_000377.2(WAS): c.90C> T (p.His30=) single nucleotide variant Benign rs148800063 GRCh38 Chromosome X, 48683943: 48683943
39 WAS NM_000377.2(WAS): c.413G> C (p.Arg138Pro) single nucleotide variant Pathogenic rs139265251 GRCh37 Chromosome X, 48544175: 48544175
40 WAS NM_000377.2(WAS): c.413G> C (p.Arg138Pro) single nucleotide variant Pathogenic rs139265251 GRCh38 Chromosome X, 48685786: 48685786
41 WAS NM_000377.2(WAS): c.271C> T (p.Gln91Ter) single nucleotide variant Pathogenic rs1557006354 GRCh37 Chromosome X, 48542810: 48542810
42 WAS NM_000377.2(WAS): c.271C> T (p.Gln91Ter) single nucleotide variant Pathogenic rs1557006354 GRCh38 Chromosome X, 48684421: 48684421
43 WAS NM_000377.2(WAS): c.897G> A (p.Gly299=) single nucleotide variant Likely benign rs782793103 GRCh38 Chromosome X, 48688419: 48688419
44 WAS NM_000377.2(WAS): c.897G> A (p.Gly299=) single nucleotide variant Likely benign rs782793103 GRCh37 Chromosome X, 48546808: 48546808
45 WAS NM_000377.2(WAS): c.91G> A (p.Glu31Lys) single nucleotide variant Pathogenic/Likely pathogenic rs1557006239 GRCh37 Chromosome X, 48542333: 48542333
46 WAS NM_000377.2(WAS): c.91G> A (p.Glu31Lys) single nucleotide variant Pathogenic/Likely pathogenic rs1557006239 GRCh38 Chromosome X, 48683944: 48683944
47 WAS NM_000377.2(WAS): c.985C> G (p.Pro329Ala) single nucleotide variant Uncertain significance rs1557007136 GRCh37 Chromosome X, 48547102: 48547102
48 WAS NM_000377.2(WAS): c.985C> G (p.Pro329Ala) single nucleotide variant Uncertain significance rs1557007136 GRCh38 Chromosome X, 48688713: 48688713
49 WAS NM_000377.2(WAS): c.360+8A> G single nucleotide variant Likely benign rs1557006508 GRCh37 Chromosome X, 48544030: 48544030
50 WAS NM_000377.2(WAS): c.360+8A> G single nucleotide variant Likely benign rs1557006508 GRCh38 Chromosome X, 48685641: 48685641

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 GATA1 ZFPM1
2 protein-DNA complex GO:0032993 8.96 GATA1 HOXA11
3 transcription factor complex GO:0005667 8.8 GATA1 HOXA11 ZFPM1

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

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 GATA1 ZFPM1

Sources for Thrombocytopenia 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
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31 HGMD
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34 ICD10
35 ICD10 via Orphanet
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63 PubMed
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70 SNOMED-CT via HPO
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