THC1
MCID: THR071
MIFTS: 48

Thrombocytopenia 1 (THC1)

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

Aliases & Classifications for Thrombocytopenia 1

MalaCards integrated aliases for Thrombocytopenia 1:

Name: Thrombocytopenia 1 57 20 43 72 54 70
X-Linked Thrombocytopenia with Normal Platelets 20 58 29 6
Xlt 57 20 43 72
Thrombocytopenia, X-Linked, Intermittent 57 29 6
Thrombocytopenia, X-Linked 57 20 13
Thc1 57 20 72
X-Linked Thrombocytopenia 20 43
Thrombocytopenia, X-Linked; Xlt 57
Thrombocytopenia, X-Linked, 1 57
Thrombocytopenia X-Linked 1 72
Thrombocytopenia X-Linked 72
Thrombocytopenia, Type 1 39
Thc 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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® 57 313900
OMIM Phenotypic Series 57 PS313900
MeSH 44 D013921
ICD10 via Orphanet 33 D69.4
Orphanet 58 ORPHA852
UMLS 70 C1839163

Summaries for Thrombocytopenia 1

MedlinePlus Genetics : 43 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 Cell Differentiation Pathways and Lineage-specific Markers. The drug Liver Extracts has been mentioned in the context of this disorder. Affiliated tissues include liver, breast and kidney, and related phenotypes are epistaxis and eczema

OMIM® : 57 Hereditary nonsyndromic thrombocytopenia is characterized by decreased numbers of platelets and bleeding tendency (summary by Villa et al., 1995). (313900) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 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
Thrombocytopenia 7 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 138)
# Related Disease Score Top Affiliating Genes
1 thrombocytopenia with beta-thalassemia, x-linked 31.9 ZFPM1 GATA1
2 wiskott-aldrich syndrome 31.5 WAS THPO
3 severe congenital neutropenia 29.6 WAS THPO
4 dyserythropoietic anemia and thrombocytopenia 29.5 ZFPM1 GATA1
5 blood platelet disease 29.2 WAS THPO GATA1
6 myelofibrosis 29.0 ZFPM1 THPO GATA1
7 thrombocytopenia 28.0 ZFPM1 WAS THPO HOXA11 GATA1
8 thrombocytopenia, x-linked, with or without dyserythropoietic anemia 11.5
9 radioulnar synostosis with amegakaryocytic thrombocytopenia 1 11.4
10 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 11.4
11 thrombocytopenia, paris-trousseau type 11.0
12 spasticity 10.4
13 multiple sclerosis 10.3
14 thalassemia 10.3
15 cannabis dependence 10.3
16 cannabis abuse 10.2
17 pertussis 10.2
18 schizophrenia 10.2
19 lymphoproliferative syndrome 10.1
20 neutropenia 10.1
21 thrombocytopenia due to platelet alloimmunization 10.1
22 iga glomerulonephritis 10.1
23 purpura 10.1
24 splenomegaly 10.1
25 anxiety 10.1
26 withdrawal disorder 10.1
27 substance abuse 10.1
28 chronic pain 10.1
29 ataxia and polyneuropathy, adult-onset 10.1
30 pain agnosia 10.1
31 rapidly involuting congenital hemangioma 10.1
32 tic disorder 10.1
33 seizure disorder 10.1
34 tremor 10.1
35 gray platelet syndrome 10.0
36 gilles de la tourette syndrome 10.0
37 immune deficiency disease 10.0
38 anorexia nervosa 10.0
39 psychotic disorder 10.0
40 fibromyalgia 10.0
41 hypotonia 10.0
42 arteries, anomalies of 9.9
43 atherosclerosis susceptibility 9.9
44 attention deficit-hyperactivity disorder 9.9
45 cystic fibrosis 9.9
46 dravet syndrome 9.9
47 lipoprotein quantitative trait locus 9.9
48 adult respiratory distress syndrome 9.9
49 epilepsy 9.9
50 glioblastoma 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:

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®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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 Liver Extracts Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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
Liver, Breast, Kidney, Lung, Spleen, Brain, Skin

Publications for Thrombocytopenia 1

Articles related to Thrombocytopenia 1:

(show top 50) (show all 219)
# Title Authors PMID Year
1
Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia. 54 57 6
11877312 2002
2
X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene. 57 6 54
7795648 1995
3
X-linked thrombocytopenia in a girl. 57 6
12199801 2002
4
The Wiskott-Aldrich syndrome and X-linked congenital thrombocytopenia are caused by mutations of the same gene. 57 6
7579347 1995
5
Clinical course of patients with WASP gene mutations. 54 6
12969986 2004
6
WASP (Wiskott-Aldrich syndrome protein) gene mutations and phenotype. 6 54
14612666 2003
7
Wiskott-Aldrich syndrome: no strict genotype-phenotype correlations but clustering of missense mutations in the amino-terminal part of the WASP gene product. 6 54
8682510 1996
8
WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia. 6 54
8528199 1995
9
When WAS Gene Diagnosis Is Needed: Seeking Clues Through Comparison Between Patients With Wiskott-Aldrich Syndrome and Idiopathic Thrombocytopenic Purpura. 6
31354712 2019
10
Defective thymic output in WAS patients is associated with abnormal actin organization. 6
28931895 2017
11
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. 6
28641574 2017
12
A Nationwide Study of Severe and Protracted Diarrhoea in Patients with Primary Immunodeficiency Diseases. 6
28623282 2017
13
Sclerosing cholangitis and intracranial lymphoma in a child with classical Wiskott-Aldrich syndrome. 6
27566838 2017
14
SUMOylation-disrupting WAS mutation converts WASp from a transcriptional activator to a repressor of NF-κB response genes in T cells. 6
26261240 2015
15
B-cell reconstitution after lentiviral vector-mediated gene therapy in patients with Wiskott-Aldrich syndrome. 6
25792466 2015
16
Wiskott-Aldrich syndrome/X-linked thrombocytopenia in China: Clinical characteristic and genotype-phenotype correlation. 6
25931402 2015
17
In vivo reversion of an inherited mutation in a Chinese patient with Wiskott-Aldrich syndrome. 6
25862925 2015
18
[Mutation analysis of WASP gene and prenatal diagnosis of Wiskott-Aldrich syndrome]. 6
25476427 2014
19
Diffuse large B cell lymphoma in wiskott-Aldrich syndrome: a case report and review of literature. 6
25332606 2014
20
Molecular and phenotypic abnormalities of B lymphocytes in patients with Wiskott-Aldrich syndrome. 6
24210885 2014
21
A case of familial X-linked thrombocytopenia with a novel WAS gene mutation. 6
23807894 2013
22
Clinical and molecular characterization of Thai patients with Wiskott-Aldrich syndrome. 6
23033889 2013
23
Disease-associated missense mutations in the EVH1 domain disrupt intrinsic WASp function causing dysregulated actin dynamics and impaired dendritic cell migration. 6
23160469 2013
24
Genetics of familial forms of thrombocytopenia. 57
22886561 2012
25
Outcomes following hematopoietic cell transplantation for Wiskott-Aldrich syndrome. 6
22426750 2012
26
Molecular basis of Wiskott-Aldrich syndrome in patients from India. 6
22679904 2012
27
Clinical profile and genetic basis of Wiskott-Aldrich syndrome at Chandigarh, North India. 6
22523910 2012
28
Monozygotic twin pair showing discordant phenotype for X-linked thrombocytopenia and Wiskott-Aldrich syndrome: a role for epigenetics? 6
21710275 2011
29
Wiskott-Aldrich syndrome mutation in two Turkish siblings with X-linked thrombocytopenia. 6
27264129 2011
30
Genetic characteristics of eighty-seven patients with the Wiskott-Aldrich syndrome. 6
21185603 2011
31
[WASP gene mutation analysis of a family of X-linked thrombocytopenia]. 6
20959042 2010
32
X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options. 6
20173115 2010
33
Characterization of Wiskott-Aldrich syndrome (WAS) mutants using Saccharomyces cerevisiae. 6
19817875 2009
34
Clinical and molecular characteristics of 35 Chinese children with Wiskott-Aldrich syndrome. 6
19308710 2009
35
A large kindred with X-linked neutropenia with an I294T mutation of the Wiskott-Aldrich syndrome gene. 6
19006568 2009
36
WIP is a chaperone for Wiskott-Aldrich syndrome protein (WASP). 6
17213309 2007
37
Two novel activating mutations in the Wiskott-Aldrich syndrome protein result in congenital neutropenia. 6
16804117 2006
38
A case of Wiskott-Aldrich syndrome with de novo mutation at exon 4. 6
16562789 2006
39
Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation. 6
15284122 2004
40
Molecular diagnosis of Wiskott-Aldrich syndrome in Taiwan. 6
15497008 2004
41
Second-site mutation in the Wiskott-Aldrich syndrome (WAS) protein gene causes somatic mosaicism in two WAS siblings. 6
12727931 2003
42
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). 6
12591280 2003
43
Wiskott-Aldrich syndrome in Argentina: 17 unique, including nine novel, mutations. 6
11793485 2002
44
Protein assays for diagnosis of Wiskott-Aldrich syndrome and X-linked thrombocytopenia. 6
11442475 2001
45
Identification of WASP mutations in 14 Spanish families with Wiskott-Aldrich syndrome. 6
11298372 2001
46
Missense C168T in the Wiskott--Aldrich Syndrome protein gene is a common mutation in X-linked thrombocytopenia. 6
11167787 2001
47
X-linked thrombocytopenia identified by flow cytometric demonstration of defective Wiskott-Aldrich syndrome protein in lymphocytes. 6
10691337 2000
48
Novel mutations, no detectable mRNA and familial genetic analysis of the Wiskott-Aldrich syndrome protein gene in six Japanese patients with Wiskott-Aldrich syndrome. 6
10653325 2000
49
Unique and recurrent WAS gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia. 6
10575547 1999
50
Mutations that cause the Wiskott-Aldrich syndrome impair the interaction of Wiskott-Aldrich syndrome protein (WASP) with WASP interacting protein. 6
10202051 1999

Variations for Thrombocytopenia 1

ClinVar genetic disease variations for Thrombocytopenia 1:

6 (show top 50) (show all 127)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 WAS NM_000377.2(WAS):c.167C>T (p.Ala56Val) SNV Pathogenic 11116 rs132630269 GRCh37: X:48542706-48542706
GRCh38: X:48684317-48684317
2 WAS NM_000377.2(WAS):c.707C>G (p.Ala236Gly) SNV Pathogenic 11117 rs132630270 GRCh37: X:48545317-48545317
GRCh38: X:48686928-48686928
3 WAS WAS, 1-BP INS, 512C Insertion Pathogenic 11118 GRCh37:
GRCh38:
4 WAS NM_000377.2(WAS):c.173C>G (p.Pro58Arg) SNV Pathogenic 11126 rs132630275 GRCh37: X:48542712-48542712
GRCh38: X:48684323-48684323
5 WAS NM_000377.2(WAS):c.1442T>A (p.Ile481Asn) SNV Pathogenic 11127 rs132630276 GRCh37: X:48547812-48547812
GRCh38: X:48689423-48689423
6 WAS WAS, IVS6DS, G-A, +5 SNV Pathogenic 11129 GRCh37:
GRCh38:
7 WAS NM_000377.2(WAS):c.413G>C (p.Arg138Pro) SNV Pathogenic 495847 rs139265251 GRCh37: X:48544175-48544175
GRCh38: X:48685786-48685786
8 WAS NM_000377.3(WAS):c.1423C>T (p.Gln475Ter) SNV Pathogenic 829893 rs1602180058 GRCh37: X:48547793-48547793
GRCh38: X:48689404-48689404
9 WAS NM_000377.2(WAS):c.134C>T (p.Thr45Met) SNV Pathogenic 11123 rs132630273 GRCh37: X:48542673-48542673
GRCh38: X:48684284-48684284
10 WAS NM_000377.2(WAS):c.777+1G>A SNV Pathogenic 372546 rs1057517845 GRCh37: X:48546486-48546486
GRCh38: X:48688097-48688097
11 WAS NM_000377.2(WAS):c.223G>A (p.Val75Met) SNV Pathogenic 265289 rs782290433 GRCh37: X:48542762-48542762
GRCh38: X:48684373-48684373
12 WAS NM_000377.2(WAS):c.257G>A (p.Arg86His) SNV Pathogenic 11115 rs132630268 GRCh37: X:48542796-48542796
GRCh38: X:48684407-48684407
13 WAS NM_000377.2(WAS):c.271C>T (p.Gln91Ter) SNV Pathogenic 528221 rs1557006354 GRCh37: X:48542810-48542810
GRCh38: X:48684421-48684421
14 WAS NM_000377.2(WAS):c.91G>A (p.Glu31Lys) SNV Pathogenic 528222 rs1557006239 GRCh37: X:48542333-48542333
GRCh38: X:48683944-48683944
15 WAS NM_000377.2(WAS):c.1001del (p.Gly334fs) Deletion Pathogenic 574368 rs1569494025 GRCh37: X:48547113-48547113
GRCh38: X:48688724-48688724
16 WAS NM_000377.2(WAS):c.734+2T>A SNV Pathogenic 577637 rs1569493877 GRCh37: X:48545346-48545346
GRCh38: X:48686957-48686957
17 WAS NM_000377.2(WAS):c.223G>A (p.Val75Met) SNV Pathogenic 265289 rs782290433 GRCh37: X:48542762-48542762
GRCh38: X:48684373-48684373
18 WAS NM_000377.2(WAS):c.660_664del (p.Ser221_Pro222insTer) Deletion Pathogenic 641614 rs1602178184 GRCh37: X:48545268-48545272
GRCh38: X:48686879-48686883
19 WAS NM_000377.2(WAS):c.470_471del (p.Arg157fs) Deletion Pathogenic 643344 rs1602177562 GRCh37: X:48544340-48544341
GRCh38: X:48685951-48685952
20 WAS NM_000377.3(WAS):c.858del (p.Ser287fs) Deletion Pathogenic 656534 rs1602179000 GRCh37: X:48546768-48546768
GRCh38: X:48688379-48688379
21 WAS NM_000377.2(WAS):c.355G>T (p.Gly119Ter) SNV Pathogenic 660964 rs1602177243 GRCh37: X:48544017-48544017
GRCh38: X:48685628-48685628
22 WAS NM_000377.2(WAS):c.961C>T (p.Arg321Ter) SNV Pathogenic 449515 rs1557007123 GRCh37: X:48547078-48547078
GRCh38: X:48688689-48688689
23 WAS NM_000377.2(WAS):c.-37_132+35del Deletion Pathogenic 663734 rs1602176146 GRCh37: X:48542204-48542407
GRCh38: X:48683815-48684018
24 WAS NM_000377.2(WAS):c.631C>T (p.Arg211Ter) SNV Pathogenic 647830 rs1602178165 GRCh37: X:48545241-48545241
GRCh38: X:48686852-48686852
25 WAS NM_000377.2(WAS):c.803delinsTT (p.Arg268fs) Indel Pathogenic 652576 rs1602178952 GRCh37: X:48546714-48546714
GRCh38: X:48688325-48688325
26 WAS NM_000377.3(WAS):c.1266_1267insG Duplication Pathogenic 495844 rs1557007312 GRCh37: X:48547383-48547384
GRCh38: X:48688994-48688995
27 WAS NC_000023.10:g.(?_48542233)_(48542384_?)del Deletion Pathogenic 832668 GRCh37: X:48542233-48542384
GRCh38:
28 WAS NM_000377.2(WAS):c.134C>T (p.Thr45Met) SNV Pathogenic 11123 rs132630273 GRCh37: X:48542673-48542673
GRCh38: X:48684284-48684284
29 WAS NM_000377.3(WAS):c.436del (p.Gln146fs) Deletion Pathogenic 853574 GRCh37: X:48544198-48544198
GRCh38: X:48685809-48685809
30 WAS NM_000377.3(WAS):c.238C>T (p.Gln80Ter) SNV Pathogenic 853840 GRCh37: X:48542777-48542777
GRCh38: X:48684388-48684388
31 WAS NM_000377.2(WAS):c.881T>C (p.Ile294Thr) SNV Pathogenic 29967 rs387906717 GRCh37: X:48546792-48546792
GRCh38: X:48688403-48688403
32 WAS NM_000377.3(WAS):c.1058dup (p.Pro354fs) Duplication Pathogenic 861115 GRCh37: X:48547170-48547171
GRCh38: X:48688781-48688782
33 WAS NM_000377.3(WAS):c.311_312insAA (p.Leu105fs) Insertion Pathogenic 862503 GRCh37: X:48543972-48543973
GRCh38: X:48685583-48685584
34 WAS NM_000377.2(WAS):c.1453G>A (p.Asp485Asn) SNV Pathogenic 418541 rs1064793293 GRCh37: X:48547823-48547823
GRCh38: X:48689434-48689434
35 WAS NM_000377.3(WAS):c.1090C>T (p.Arg364Ter) SNV Pathogenic 839782 GRCh37: X:48547207-48547207
GRCh38: X:48688818-48688818
36 WAS NM_000377.3(WAS):c.35dup (p.Arg13fs) Duplication Pathogenic 843981 GRCh37: X:48542272-48542273
GRCh38: X:48683883-48683884
37 WAS NM_000377.3(WAS):c.1266_1267insG Duplication Pathogenic 495844 rs1557007312 GRCh37: X:48547383-48547384
GRCh38: X:48688994-48688995
38 WAS NM_000377.3(WAS):c.256C>T (p.Arg86Cys) SNV Pathogenic 936334 GRCh37: X:48542795-48542795
GRCh38: X:48684406-48684406
39 WAS NM_000377.3(WAS):c.121C>T (p.Arg41Ter) SNV Pathogenic 945596 GRCh37: X:48542363-48542363
GRCh38: X:48683974-48683974
40 WAS NM_000377.3(WAS):c.302_303insC (p.Tyr102fs) Insertion Pathogenic 947868 GRCh37: X:48543964-48543965
GRCh38: X:48685575-48685576
41 WAS NM_000377.3(WAS):c.1001dup (p.Gly334_Asn335insTer) Duplication Pathogenic 949013 GRCh37: X:48547112-48547113
GRCh38: X:48688723-48688724
42 WAS NM_000377.3(WAS):c.692del (p.Lys231fs) Deletion Pathogenic 949935 GRCh37: X:48545301-48545301
GRCh38: X:48686912-48686912
43 WAS NM_000377.2(WAS):c.37C>T (p.Arg13Ter) SNV Pathogenic 36911 rs193922415 GRCh37: X:48542279-48542279
GRCh38: X:48683890-48683890
44 WAS NM_000377.2(WAS):c.11del (p.Gly4fs) Deletion Pathogenic 11132 rs587776745 GRCh37: X:48542249-48542249
GRCh38: X:48683860-48683860
45 WAS NM_000377.3(WAS):c.70T>C (p.Ser24Pro) SNV Likely pathogenic 834695 GRCh37: X:48542312-48542312
GRCh38: X:48683923-48683923
46 WAS NM_000377.3(WAS):c.1112C>T (p.Pro371Leu) SNV Uncertain significance 954359 GRCh37: X:48547229-48547229
GRCh38: X:48688840-48688840
47 WAS NM_000377.3(WAS):c.1219G>A (p.Gly407Arg) SNV Uncertain significance 958225 GRCh37: X:48547336-48547336
GRCh38: X:48688947-48688947
48 WAS NM_000377.3(WAS):c.1199C>T (p.Pro400Leu) SNV Uncertain significance 962220 GRCh37: X:48547316-48547316
GRCh38: X:48688927-48688927
49 WAS NM_000377.3(WAS):c.412C>T (p.Arg138Trp) SNV Uncertain significance 967135 GRCh37: X:48544174-48544174
GRCh38: X:48685785-48685785
50 WAS NM_000377.3(WAS):c.1272_1277delinsGCCTGG (p.Leu425_Ala426delinsProGly) Indel Uncertain significance 972434 GRCh37: X:48547389-48547394
GRCh38: X:48689000-48689005

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

72
# 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 embryonic hemopoiesis GO:0035162 9.4 ZFPM1 GATA1
6 platelet formation GO:0030220 9.37 ZFPM1 GATA1
7 megakaryocyte development GO:0035855 9.26 ZFPM1 THPO
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
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
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