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 75 55 73
Thrombocytopenia, X-Linked 57 53 29 13 6
Xlt 57 53 25 75
Thrombocytopenia, X-Linked, Intermittent 57 29 6
Thc1 57 53 75
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 75
Thrombocytopenia, Type 1 ) 40
Thrombocytopenia X-Linked 75
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
Orphanet 59 ORPHA852
ICD10 via Orphanet 34 D69.4
MeSH 44 D013921
UMLS 73 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.

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 (Wiskott-Aldrich Syndrome), 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 Aldesleukin and Analgesics, Non-Narcotic have been mentioned in the context of this disorder. Affiliated tissues include brain, bone and skin, 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 : 75 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 all 49)
# Related Disease Score Top Affiliating Genes
1 myelofibrosis 29.6 GATA1 THPO
2 thrombocytopenia 29.5 GATA1 HOXA11 THPO WAS
3 thrombocytopenia, x-linked, with or without dyserythropoietic anemia 12.4
4 radioulnar synostosis with amegakaryocytic thrombocytopenia 1 12.3
5 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 11.9
6 thrombocytopenia with beta-thalassemia, x-linked 11.6
7 wiskott-aldrich syndrome 11.3
8 thrombocytopenia, paris-trousseau type 11.1
9 spasticity 10.5
10 multiple sclerosis 10.4
11 thalassemia 10.3
12 hematopoietic stem cell transplantation 10.1
13 iga glomerulonephritis 10.1
14 leukemia 10.0
15 streptococcal group a invasive disease 10.0
16 blood platelet disease 10.0 THPO WAS
17 gray platelet syndrome 9.9
18 kidney disease 9.9
19 thrombocytopenia-absent radius syndrome 9.9 GATA1 THPO
20 leukemia, chronic lymphocytic 2 9.9
21 hypercarotenemia and vitamin a deficiency, autosomal dominant 9.9
22 gilles de la tourette syndrome 9.9
23 leukemia, chronic lymphocytic 9.9
24 schizophrenia 9.9
25 fructose utilization 9.9
26 epileptic encephalopathy, early infantile, 6 9.9
27 anxiety 9.9
28 cataract 9.9
29 withdrawal disorder 9.9
30 lymphocytic leukemia 9.9
31 keratomalacia 9.9
32 hyperostosis 9.9
33 dermatitis 9.9
34 tic disorder 9.9
35 contact dermatitis 9.9
36 allergic contact dermatitis 9.9
37 cataract-glaucoma 9.9
38 leukemia, b-cell, chronic 9.9
39 xp22.3 microdeletion syndrome 9.9
40 pain - chronic 9.9
41 tremor 9.9
42 rapidly involuting congenital hemangioma 9.9
43 megakaryocytic leukemia 9.9 GATA1 THPO
44 deficiency anemia 9.8 GATA1 THPO
45 dyserythropoietic anemia and thrombocytopenia 9.8 GATA1 ZFPM1
46 bone marrow cancer 9.8 GATA1 THPO
47 essential thrombocythemia 9.8 GATA1 THPO
48 leukemia, chronic myeloid 9.8 GATA1 THPO
49 diamond-blackfan anemia 9.7 GATA1 THPO

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



Diseases related to Thrombocytopenia 1

Symptoms & Phenotypes for Thrombocytopenia 1

Symptoms via clinical synopsis from OMIM:

57
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

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 increased iga level 32 HP:0003261
7 increased ige level 32 HP:0003212
8 joint hemorrhage 32 HP:0005261
9 intermittent thrombocytopenia 32 HP:0004854
10 congenital thrombocytopenia 32 HP:0001905
11 decreased mean platelet volume 32 HP:0005537

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):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Aldesleukin Approved Phase 1 85898-30-2, 110942-02-4
2 Analgesics, Non-Narcotic Phase 1
3 Peripheral Nervous System Agents Phase 1
4 Analgesics Phase 1
5 Interleukin-2 Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Thrombocytopenia and Bleeding in Wiskott-Aldrich Syndrome (WAS) Patients Active, not recruiting NCT00909363 Phase 2 Promacta (eltrombopag);Eltrombopag/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 29 WAS
2 Thrombocytopenia, X-Linked, Intermittent 29

Anatomical Context for Thrombocytopenia 1

MalaCards organs/tissues related to Thrombocytopenia 1:

41
Brain, Bone, Skin, T Cells, Bone Marrow, B Cells, Myeloid

Publications for Thrombocytopenia 1

Articles related to Thrombocytopenia 1:

(show all 50)
# 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
Broad spectrum of autoantibodies in patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia. ( 26409660 )
2015
6
X-linked thrombocytopenia with thalassemia displays bone marrow reticulin fibrosis and enhanced angiogenesis: comparisons with primary myelofibrosis. ( 25421114 )
2015
7
Wiskott-Aldrich syndrome/X-linked thrombocytopenia in China: Clinical characteristic and genotype-phenotype correlation. ( 25931402 )
2015
8
Effects of eltrombopag on platelet count and platelet activation in Wiskott-Aldrich syndrome/X-linked thrombocytopenia. ( 26224646 )
2015
9
Disruption of hSWI/SNF-Complexes in T cells by WAS Mutations Distinguishes X-linked Thrombocytopenia from Wiskott-Aldrich Syndrome. ( 25253772 )
2014
10
Successful long-term outcome of kidney transplantation in a patient with x-linked thrombocytopenia: 9-year follow-up. ( 25221901 )
2014
11
X-linked thrombocytopenia in three males with normal sized platelets due to novel WAS gene mutations. ( 25154619 )
2014
12
X-Linked thrombocytopenia causing mutations in WASP (L46P and A47D) impair T cell chemotaxis. ( 25200405 )
2014
13
Hematopoietic Stem Cell Transplantation for X-Linked Thrombocytopenia With Mutations in the WAS gene. ( 25388447 )
2014
14
A case of familial X-linked thrombocytopenia with a novel WAS gene mutation. ( 23807894 )
2013
15
Aberrant glycosylation of IgA in Wiskott-Aldrich syndrome and X-linked thrombocytopenia. ( 23107152 )
2013
16
X-linked thrombocytopenia in a female with a complex familial pattern of X-chromosome inactivation. ( 23689198 )
2013
17
Allogeneic Bone Marrow Transplantation Appears to Ameliorate IgA Nephropathy in a Patient with X-linked Thrombocytopenia. ( 24217816 )
2013
18
Intermittent X-linked thrombocytopenia with a novel WAS gene mutation. ( 24115682 )
2013
19
Successful handling of autoimmunity in X-linked thrombocytopenia (XLT) using mycophenolate mofetil. ( 22692965 )
2012
20
IVS6+5G>A found in Wiskott-Aldrich syndrome and X-linked thrombocytopenia in a Korean family. ( 22038941 )
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
Hematopoietic stem cell transplantation for X-linked thrombocytopenia from a mild symptomatic carrier. ( 19684625 )
2010
25
X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options. ( 20173115 )
2010
26
Atypical lymphoproliferative disorder in a patient with X-linked thrombocytopenia. ( 18523994 )
2008
27
Detection of 28 novel mutations in the Wiskott-Aldrich syndrome and X-linked thrombocytopenia based on multiplex PCR. ( 17400488 )
2007
28
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
29
Transgenic rescue of GATA-1-deficient mice with GATA-1 lacking a FOG-1 association site phenocopies patients with X-linked thrombocytopenia. ( 14656885 )
2004
30
Identification of WASP mutations in 10 Australian families with Wiskott-Aldrich syndrome and X-linked thrombocytopenia. ( 15203732 )
2004
31
Macrophages of patients with X-linked thrombocytopenia display an attenuated Wiskott-Aldrich syndrome phenotype. ( 12631236 )
2003
32
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
33
Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia. ( 11877312 )
2002
34
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
35
X-linked thrombocytopenia in a girl. ( 12199801 )
2002
36
X-linked thrombocytopenia caused by a novel mutation of GATA-1. ( 11675338 )
2001
37
Protein assays for diagnosis of Wiskott-Aldrich syndrome and X-linked thrombocytopenia. ( 11442475 )
2001
38
Missense C168T in the Wiskott-Aldrich Syndrome protein gene is a common mutation in X-linked thrombocytopenia. ( 11167787 )
2001
39
X-linked thrombocytopenia identified by flow cytometric demonstration of defective Wiskott-Aldrich syndrome protein in lymphocytes. ( 10691337 )
2000
40
Mutations of the WASP gene in 10 Japanese patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia. ( 10729999 )
2000
41
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
42
Unique and recurrent WAS gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia. ( 10575547 )
1999
43
Wiskott-Aldrich syndrome/X-linked thrombocytopenia: WASP gene mutations, protein expression, and phenotype. ( 9326235 )
1997
44
Isolated X-linked thrombocytopenia in two unrelated families is associated with point mutations in the Wiskott-Aldrich syndrome protein gene. ( 8757563 )
1996
45
Mutation spectrum in patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia: identification of twelve different mutations in the WASP gene. ( 8743175 )
1996
46
WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia. ( 8528199 )
1995
47
X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene. ( 7795648 )
1995
48
X-linked thrombocytopenia and Wiskott-Aldrich syndrome: similar regional assignment but distinct X-inactivation pattern in carriers. ( 1912030 )
1991
49
X-linked thrombocytopenia and thrombocytopathia: attenuated Wiskott-Aldrich syndrome. Functional and morphological studies of platelets and lymphocytes. ( 2048054 )
1991
50
Hereditary X-linked thrombocytopenia maps to the same chromosomal region as the Wiskott-Aldrich syndrome. ( 2904289 )
1988

Variations for Thrombocytopenia 1

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

75
# 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 70)
# 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 Conflicting interpretations of pathogenicity rs58371799 GRCh37 Chromosome X, 48542822: 48542823
18 WAS NM_000377.2(WAS): c.273+10_273+11dupCC duplication Conflicting interpretations of pathogenicity 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.90C> T (p.His30=) single nucleotide variant Benign rs148800063 GRCh37 Chromosome X, 48542332: 48542332
36 WAS NM_000377.2(WAS): c.90C> T (p.His30=) single nucleotide variant Benign rs148800063 GRCh38 Chromosome X, 48683943: 48683943
37 WAS NM_000377.2(WAS): c.413G> C (p.Arg138Pro) single nucleotide variant Pathogenic rs139265251 GRCh37 Chromosome X, 48544175: 48544175
38 WAS NM_000377.2(WAS): c.413G> C (p.Arg138Pro) single nucleotide variant Pathogenic rs139265251 GRCh38 Chromosome X, 48685786: 48685786
39 WAS NM_000377.2(WAS): c.271C> T (p.Gln91Ter) single nucleotide variant Pathogenic GRCh38 Chromosome X, 48684421: 48684421
40 WAS NM_000377.2(WAS): c.271C> T (p.Gln91Ter) single nucleotide variant Pathogenic GRCh37 Chromosome X, 48542810: 48542810
41 WAS NM_000377.2(WAS): c.897G> A (p.Gly299=) single nucleotide variant Likely benign rs782793103 GRCh38 Chromosome X, 48688419: 48688419
42 WAS NM_000377.2(WAS): c.897G> A (p.Gly299=) single nucleotide variant Likely benign rs782793103 GRCh37 Chromosome X, 48546808: 48546808
43 WAS NM_000377.2(WAS): c.91G> A (p.Glu31Lys) single nucleotide variant Pathogenic/Likely pathogenic GRCh38 Chromosome X, 48683944: 48683944
44 WAS NM_000377.2(WAS): c.91G> A (p.Glu31Lys) single nucleotide variant Pathogenic/Likely pathogenic GRCh37 Chromosome X, 48542333: 48542333
45 WAS NM_000377.2(WAS): c.985C> G (p.Pro329Ala) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 48547102: 48547102
46 WAS NM_000377.2(WAS): c.985C> G (p.Pro329Ala) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 48688713: 48688713
47 WAS NM_000377.2(WAS): c.360+8A> G single nucleotide variant Likely benign GRCh37 Chromosome X, 48544030: 48544030
48 WAS NM_000377.2(WAS): c.360+8A> G single nucleotide variant Likely benign GRCh38 Chromosome X, 48685641: 48685641
49 WAS NM_000377.2(WAS): c.344A> G (p.His115Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 48544006: 48544006
50 WAS NM_000377.2(WAS): c.344A> G (p.His115Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 48685617: 48685617

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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37 KEGG
38 LifeMap
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44 MeSH
45 MESH via Orphanet
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
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74 UMLS via Orphanet
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