THC1
MCID: THR071
MIFTS: 53

Thrombocytopenia 1 (THC1)

Categories: Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Infectious diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Thrombocytopenia 1

MalaCards integrated aliases for Thrombocytopenia 1:

Name: Thrombocytopenia 1 57 19 42 73 28 53 5 71
Xlt 57 19 42 73
Thrombocytopenia, X-Linked, Intermittent 57 28 5
Thrombocytopenia, X-Linked 57 19 12
X-Linked Thrombocytopenia 19 42 75
Thc1 57 19 73
X-Linked Thrombocytopenia with Normal Platelets 19 58
Thrombocytopenia, X-Linked, 1 57
Thrombocytopenia X-Linked 1 73
Thrombocytopenia X-Linked 73
Thc 57

Characteristics:


Inheritance:

Thrombocytopenia 1: X-linked recessive 57
X-Linked Thrombocytopenia with Normal Platelets: X-linked recessive 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
allelic to wiskott-aldrich syndrome and severe congenital x-linked neutropenia


Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

OMIM® 57 313900
OMIM Phenotypic Series 57 PS313900
MeSH 43 D013921
ICD10 via Orphanet 32 D69.4
Orphanet 58 ORPHA852
UMLS 71 C1839163

Summaries for Thrombocytopenia 1

MedlinePlus Genetics: 42 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 xlt, 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 Signaling events mediated by HDAC Class I and Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers. The drugs Liver Extracts and Aldesleukin have been mentioned in the context of this disorder. Affiliated tissues include myeloid, brain and lung, and related phenotypes are congenital thrombocytopenia and decreased mean platelet volume

GARD: 19 The WAS-related disorders, which include Wiskott-Aldrich syndrome, X-linked thrombocytopenia (XLT), and X-linked congenital neutropenia (XLN), are a spectrum of disorders of hematopoietic cells, with predominant defects of platelets and lymphocytes caused by pathogenic variants in WAS. WAS-related disorders usually present in infancy. Affected males have thrombocytopenia with intermittent mucosal bleeding, bloody diarrhea, and intermittent or chronic petechiae and purpura; eczema; and recurrent bacterial and viral infections, particularly of the ear. At least 40% of those who survive the early complications develop one or more autoimmune conditions including hemolytic anemia, immune thrombocytopenic purpura, immune-mediated neutropenia, rheumatoid arthritis, vasculitis, and immune-mediated damage to the kidneys and liver. Individuals with a WAS-related disorder, particularly those who have been exposed to Epstein-Barr virus (EBV), are at increased risk of developing lymphomas, which often occur in unusual, extranodal locations including the brain, lung, or gastrointestinal tract. Males with XLT have thrombocytopenia with small platelets; other complications of Wiskott-Aldrich syndrome, including eczema and immune dysfunction, are usually mild or absent. Males with XLN have congenital neutropenia, myeloid dysplasia, and lymphoid cell abnormalities.

UniProtKB/Swiss-Prot: 73 A form of thrombocytopenia, a hematologic disorder defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting.

OMIM®: 57 Hereditary nonsyndromic thrombocytopenia is characterized by decreased numbers of platelets and bleeding tendency (summary by Villa et al., 1995). (313900) (Updated 08-Dec-2022)

Wikipedia: 75 X-linked thrombocytopenia, also referred to as XLT or thrombocytopenia 1, is an inherited clotting... more...

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 204)
# Related Disease Score Top Affiliating Genes
1 thrombocytopenia with beta-thalassemia, x-linked 32.2 ZFPM1 GATA1
2 wiskott-aldrich syndrome 31.3 WAS THPO
3 severe congenital neutropenia 29.6 WAS THPO
4 blood platelet disease 29.5 WAS THPO GATA1
5 myelofibrosis 29.2 ZFPM1 THPO GATA1
6 thrombocytopenia 28.0 ZFPM1 WAS THPO HOXA11 GATA1
7 thrombocytopenia, x-linked, with or without dyserythropoietic anemia 11.6
8 radioulnar synostosis with amegakaryocytic thrombocytopenia 1 11.3
9 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 11.2
10 thrombocytopenia, paris-trousseau type 11.1
11 tatton-brown-rahman syndrome 10.4
12 psychotic disorder 10.4
13 spasticity 10.4
14 thalassemia 10.3
15 multiple sclerosis 10.3
16 thrombocytopenia due to platelet alloimmunization 10.3
17 anxiety 10.2
18 cannabis dependence 10.2
19 toxic encephalopathy 10.2
20 cannabis abuse 10.2
21 iga nephropathy 1 10.2
22 thrombocytopenic purpura, autoimmune 10.2
23 iga glomerulonephritis 10.2
24 fontaine progeroid syndrome 10.2
25 rapidly involuting congenital hemangioma 10.2
26 pertussis 10.2
27 chronic pain 10.2
28 adult syndrome 10.1
29 schizophrenia 10.1
30 substance abuse 10.1
31 lymphoproliferative syndrome 10.1
32 purpura 10.1
33 splenomegaly 10.1
34 gilles de la tourette syndrome 10.1
35 withdrawal disorder 10.1
36 tic disorder 10.1
37 panic disorder 10.1
38 attention deficit-hyperactivity disorder 10.1
39 visual epilepsy 10.1
40 autoimmune disease 10.1
41 gray platelet syndrome 10.1
42 deficiency anemia 10.1
43 neutropenia 10.1
44 chronic kidney disease 10.1
45 immune deficiency disease 10.0
46 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 10.0
47 anorexia nervosa 10.0
48 pain agnosia 10.0
49 adult respiratory distress syndrome 10.0
50 alcohol use disorder 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:

30 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 congenital thrombocytopenia 30 Very rare (1%) HP:0001905
2 decreased mean platelet volume 30 Very rare (1%) HP:0005537
3 epistaxis 30 HP:0000421
4 eczema 30 HP:0000964
5 petechiae 30 HP:0000967
6 bruising susceptibility 30 HP:0000978
7 abnormality of the musculature 30 HP:0003011
8 increased circulating iga level 30 HP:0003261
9 joint hemorrhage 30 HP:0005261
10 increased circulating ige level 30 HP:0003212
11 intermittent thrombocytopenia 30 HP:0004854

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Nose:
epistaxis

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

Skeletal Limbs:
hemarthroses

Skin Nails Hair Skin:
petechiae
easy bruisability
transient eczema

Muscle Soft Tissue:
hematoma

Immunology:
elevated serum ige
elevated serum iga

Clinical features from OMIM®:

313900 (Updated 08-Dec-2022)

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 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Liver Extracts Phase 2
2
Aldesleukin Approved Phase 1 110942-02-4
3 Antiviral Agents Phase 1
4 Anti-Infective Agents Phase 1
5 Anti-Retroviral Agents Phase 1
6 Interleukin-2 Phase 1
7 Anti-HIV Agents Phase 1
8 Analgesics, Non-Narcotic Phase 1
9 Analgesics Phase 1

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
2 Reinstituting Natural Killer Cell Cytotoxicity and Cytoskeletal Dynamics in Wiskott-Aldrich Syndrome With IL-2 Therapy Completed NCT00774358 Phase 1 Interleukin-2

Search NIH Clinical Center for Thrombocytopenia 1

Genetic Tests for Thrombocytopenia 1

Genetic tests related to Thrombocytopenia 1:

# Genetic test Affiliating Genes
1 Thrombocytopenia 1 28 WAS
2 Thrombocytopenia, X-Linked, Intermittent 28

Anatomical Context for Thrombocytopenia 1

Organs/tissues related to Thrombocytopenia 1:

MalaCards : Myeloid, Brain, Lung, Liver, Skin, Bone Marrow, Bone
ODiseA: Blood And Bone Marrow

Publications for Thrombocytopenia 1

Articles related to Thrombocytopenia 1:

(show top 50) (show all 332)
# Title Authors PMID Year
1
Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia. 53 62 57 5
11877312 2002
2
X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene. 53 62 57 5
7795648 1995
3
X-linked thrombocytopenia in a girl. 62 57 5
12199801 2002
4
Clinical aspects and molecular analysis of Chinese patients with Wiskott-Aldrich syndrome in Taiwan. 53 62 5
17703096 2008
5
Clinical course of patients with WASP gene mutations. 53 62 5
12969986 2004
6
WASP (Wiskott-Aldrich syndrome protein) gene mutations and phenotype. 53 62 5
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. 53 62 5
8682510 1996
8
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. 62 5
28641574 2017
9
IVS6+5G>A found in Wiskott-Aldrich syndrome and X-linked thrombocytopenia in a Korean family. 62 5
22038941 2012
10
[WASP gene mutation analysis of a family of X-linked thrombocytopenia]. 62 5
20959042 2010
11
X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options. 62 5
20173115 2010
12
Detection of 28 novel mutations in the Wiskott-Aldrich syndrome and X-linked thrombocytopenia based on multiplex PCR. 62 5
17400488 2007
13
Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation. 62 5
15284122 2004
14
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). 62 5
12591280 2003
15
Protein assays for diagnosis of Wiskott-Aldrich syndrome and X-linked thrombocytopenia. 62 5
11442475 2001
16
Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia. 62 5
11242115 2001
17
Missense C168T in the Wiskott--Aldrich Syndrome protein gene is a common mutation in X-linked thrombocytopenia. 62 5
11167787 2001
18
Unique and recurrent WAS gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia. 62 5
10575547 1999
19
Wiskott-Aldrich syndrome/X-linked thrombocytopenia: WASP gene mutations, protein expression, and phenotype. 62 5
9326235 1997
20
Isolated X-linked thrombocytopenia in two unrelated families is associated with point mutations in the Wiskott-Aldrich syndrome protein gene. 62 5
8757563 1996
21
The Wiskott-Aldrich syndrome and X-linked congenital thrombocytopenia are caused by mutations of the same gene. 62 57
7579347 1995
22
Hereditary X-linked thrombocytopenia maps to the same chromosomal region as the Wiskott-Aldrich syndrome. 62 57
2904289 1988
23
Primary Immunodeficiencies in India: Molecular Diagnosis and the Role of Next-Generation Sequencing. 5
33225392 2021
24
Optimized trio genome sequencing (OTGS) as a first-tier genetic test in critically ill infants: practice in China. 5
31965297 2020
25
Nuclear Wiskott-Aldrich syndrome protein co-regulates T cell factor 1-mediated transcription in T cells. 5
29078804 2017
26
A Nationwide Study of Severe and Protracted Diarrhoea in Patients with Primary Immunodeficiency Diseases. 5
28623282 2017
27
SUMOylation-disrupting WAS mutation converts WASp from a transcriptional activator to a repressor of NF-κB response genes in T cells. 5
26261240 2015
28
B-cell reconstitution after lentiviral vector-mediated gene therapy in patients with Wiskott-Aldrich syndrome. 5
25792466 2015
29
T-cell receptor diversity is selectively skewed in T-cell populations of patients with Wiskott-Aldrich syndrome. 5
25091438 2015
30
[Mutation analysis of WASP gene and prenatal diagnosis of Wiskott-Aldrich syndrome]. 5
25476427 2014
31
The open conformation of WASP regulates its nuclear localization and gene transcription in myeloid cells. 5
24402308 2014
32
Wiskott-Aldrich syndrome presenting with a clinical picture mimicking juvenile myelomonocytic leukaemia. 5
23023736 2013
33
Clinical and molecular characterization of Thai patients with Wiskott-Aldrich syndrome. 5
23033889 2013
34
Disease-associated missense mutations in the EVH1 domain disrupt intrinsic WASp function causing dysregulated actin dynamics and impaired dendritic cell migration. 5
23160469 2013
35
Genetics of familial forms of thrombocytopenia. 57
22886561 2012
36
Clinical profile and genetic basis of Wiskott-Aldrich syndrome at Chandigarh, North India. 5
22523910 2012
37
Genetic characteristics of eighty-seven patients with the Wiskott-Aldrich syndrome. 5
21185603 2011
38
Activating WASP mutations associated with X-linked neutropenia result in enhanced actin polymerization, altered cytoskeletal responses, and genomic instability in lymphocytes. 5
20513746 2010
39
Analysis of clinical and molecular characteristics of Wiskott-Aldrich syndrome in 24 patients from 23 unrelated Chinese families. 5
20546529 2010
40
WASP plays a novel role in regulating platelet responses dependent on alphaIIbbeta3 integrin outside-in signalling. 5
19863535 2010
41
Characterization of Wiskott-Aldrich syndrome (WAS) mutants using Saccharomyces cerevisiae. 5
19817875 2009
42
Clinical and molecular characteristics of 35 Chinese children with Wiskott-Aldrich syndrome. 5
19308710 2009
43
WIP is a chaperone for Wiskott-Aldrich syndrome protein (WASP). 5
17213309 2007
44
Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization. 5
17576681 2007
45
A case of Wiskott-Aldrich syndrome with de novo mutation at exon 4. 5
16562789 2006
46
Splicing in action: assessing disease causing sequence changes. 5
16199547 2005
47
Novel mutations, no detectable mRNA and familial genetic analysis of the Wiskott-Aldrich syndrome protein gene in six Japanese patients with Wiskott-Aldrich syndrome. 5
10653325 2000
48
Mutations that cause the Wiskott-Aldrich syndrome impair the interaction of Wiskott-Aldrich syndrome protein (WASP) with WASP interacting protein. 5
10202051 1999
49
Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and clinical phenotypes. 5
10447259 1999
50
Statistical features of human exons and their flanking regions. 5
9536098 1998

Variations for Thrombocytopenia 1

ClinVar genetic disease variations for Thrombocytopenia 1:

5 (show top 50) (show all 235)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 WAS NM_000377.3(WAS):c.707C>G (p.Ala236Gly) SNV Pathogenic
11117 rs132630270 GRCh37: X:48545317-48545317
GRCh38: X:48686928-48686928
2 WAS WAS, 1-BP INS, 512C INSERT Pathogenic
11118 GRCh37:
GRCh38:
3 WAS NM_000377.3(WAS):c.173C>G (p.Pro58Arg) SNV Pathogenic
11126 rs132630275 GRCh37: X:48542712-48542712
GRCh38: X:48684323-48684323
4 WAS NM_000377.3(WAS):c.1442T>A (p.Ile481Asn) SNV Pathogenic
11127 rs132630276 GRCh37: X:48547812-48547812
GRCh38: X:48689423-48689423
5 WAS NM_000377.3(WAS):c.413G>C (p.Arg138Pro) SNV Pathogenic
495847 rs139265251 GRCh37: X:48544175-48544175
GRCh38: X:48685786-48685786
6 WAS NM_000377.3(WAS):c.803delinsTT (p.Arg268fs) INDEL Pathogenic
652576 rs1602178952 GRCh37: X:48546714-48546714
GRCh38: X:48688325-48688325
7 WAS NM_000377.3(WAS):c.-37_132+35del DEL Pathogenic
663734 rs1602176146 GRCh37: X:48542204-48542407
GRCh38: X:48683815-48684018
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 NC_000023.10:g.(?_48542233)_(48542384_?)del DEL Pathogenic
832668 GRCh37: X:48542233-48542384
GRCh38:
10 WAS NM_000377.3(WAS):c.311_312insAA (p.Leu105fs) INSERT Pathogenic
862503 rs2062416272 GRCh37: X:48543972-48543973
GRCh38: X:48685583-48685584
11 WAS NM_000377.3(WAS):c.11del (p.Gly4fs) DEL Pathogenic
11132 rs587776745 GRCh37: X:48542249-48542249
GRCh38: X:48683860-48683860
12 WAS NM_000377.3(WAS):c.809T>C (p.Leu270Pro) SNV Pathogenic
11125 rs132630274 GRCh37: X:48546720-48546720
GRCh38: X:48688331-48688331
13 WAS NM_000377.3(WAS):c.176del (p.Pro59fs) DEL Pathogenic
1360224 GRCh37: X:48542711-48542711
GRCh38: X:48684322-48684322
14 WAS NM_000377.3(WAS):c.470_471del (p.Arg157fs) DEL Pathogenic
643344 rs1602177562 GRCh37: X:48544340-48544341
GRCh38: X:48685951-48685952
15 WAS NM_000377.3(WAS):c.1157del (p.Pro386fs) DEL Pathogenic
977729 rs886041379 GRCh37: X:48547270-48547270
GRCh38: X:48688881-48688881
16 WAS NM_000377.3(WAS):c.753dup (p.Trp252fs) DUP Pathogenic
1073358 GRCh37: X:48546457-48546458
GRCh38: X:48688068-48688069
17 WAS NM_000377.3(WAS):c.827_828insGGGCCTTCTCCAGGGCAGGAAT (p.Ile276fs) INSERT Pathogenic
1074326 GRCh37: X:48546721-48546722
GRCh38: X:48688332-48688333
18 WAS NM_000377.3(WAS):c.1453+2T>G SNV Pathogenic
1074601 GRCh37: X:48547825-48547825
GRCh38: X:48689436-48689436
19 WAS NM_000377.3(WAS):c.539dup (p.His180fs) DUP Pathogenic
1074623 GRCh37: X:48544502-48544503
GRCh38: X:48686113-48686114
20 WAS NM_000377.3(WAS):c.777+1G>A SNV Pathogenic
372546 rs1057517845 GRCh37: X:48546486-48546486
GRCh38: X:48688097-48688097
21 WAS NM_000377.3(WAS):c.271C>T (p.Gln91Ter) SNV Pathogenic
528221 rs1557006354 GRCh37: X:48542810-48542810
GRCh38: X:48684421-48684421
22 WAS NM_000377.3(WAS):c.91G>A (p.Glu31Lys) SNV Pathogenic
528222 rs1557006239 GRCh37: X:48542333-48542333
GRCh38: X:48683944-48683944
23 WAS NM_000377.3(WAS):c.660_664del (p.Ser221_Pro222insTer) DEL Pathogenic
641614 rs1602178184 GRCh37: X:48545268-48545272
GRCh38: X:48686879-48686883
24 WAS NM_000377.3(WAS):c.355G>T (p.Gly119Ter) SNV Pathogenic
660964 rs1602177243 GRCh37: X:48544017-48544017
GRCh38: X:48685628-48685628
25 WAS NM_000377.3(WAS):c.302_303insC (p.Tyr102fs) INSERT Pathogenic
947868 rs2062416187 GRCh37: X:48543964-48543965
GRCh38: X:48685575-48685576
26 WAS NM_000377.3(WAS):c.692del (p.Lys231fs) DEL Pathogenic
949935 rs2062422078 GRCh37: X:48545301-48545301
GRCh38: X:48686912-48686912
27 WAS NM_000377.3(WAS):c.223G>A (p.Val75Met) SNV Pathogenic
Pathogenic
265289 rs782290433 GRCh37: X:48542762-48542762
GRCh38: X:48684373-48684373
28 WAS NM_000377.3(WAS):c.734+2T>A SNV Pathogenic
577637 rs1569493877 GRCh37: X:48545346-48545346
GRCh38: X:48686957-48686957
29 WAS NM_000377.3(WAS):c.858del (p.Ser287fs) DEL Pathogenic
656534 rs1602179000 GRCh37: X:48546768-48546768
GRCh38: X:48688379-48688379
30 WAS NM_000377.3(WAS):c.961C>T (p.Arg321Ter) SNV Pathogenic
449515 rs1557007123 GRCh37: X:48547078-48547078
GRCh38: X:48688689-48688689
31 WAS NM_000377.3(WAS):c.1271dup (p.Leu425fs) DUP Pathogenic
Pathogenic
495844 rs1557007312 GRCh37: X:48547383-48547384
GRCh38: X:48688994-48688995
32 WAS NM_000377.3(WAS):c.35dup (p.Arg13fs) DUP Pathogenic
843981 rs2062410421 GRCh37: X:48542272-48542273
GRCh38: X:48683883-48683884
33 WAS NM_000377.3(WAS):c.436del (p.Gln146fs) DEL Pathogenic
853574 rs2062417558 GRCh37: X:48544198-48544198
GRCh38: X:48685809-48685809
34 WAS NM_000377.3(WAS):c.238C>T (p.Gln80Ter) SNV Pathogenic
853840 rs2062412730 GRCh37: X:48542777-48542777
GRCh38: X:48684388-48684388
35 WAS NM_000377.3(WAS):c.881T>C (p.Ile294Thr) SNV Pathogenic
29967 rs387906717 GRCh37: X:48546792-48546792
GRCh38: X:48688403-48688403
36 WAS NM_000377.3(WAS):c.1058dup (p.Pro354fs) DUP Pathogenic
861115 rs1557007165 GRCh37: X:48547170-48547171
GRCh38: X:48688781-48688782
37 WAS NM_000377.3(WAS):c.1001dup (p.Gly334_Asn335insTer) DUP Pathogenic
949013 rs1569494025 GRCh37: X:48547112-48547113
GRCh38: X:48688723-48688724
38 WAS NM_000377.3(WAS):c.778-6G>A SNV Pathogenic
449116 rs1557007011 GRCh37: X:48546683-48546683
GRCh38: X:48688294-48688294
39 WAS NM_000377.3(WAS):c.723del (p.Ser242fs) DEL Pathogenic
1076500 GRCh37: X:48545331-48545331
GRCh38: X:48686942-48686942
40 WAS NM_000377.3(WAS):c.256C>T (p.Arg86Cys) SNV Pathogenic
936334 rs2062412810 GRCh37: X:48542795-48542795
GRCh38: X:48684406-48684406
41 WAS NM_000377.3(WAS):c.121C>T (p.Arg41Ter) SNV Pathogenic
945596 rs11545907 GRCh37: X:48542363-48542363
GRCh38: X:48683974-48683974
42 WAS NM_000377.3(WAS):c.382T>C (p.Phe128Leu) SNV Pathogenic
1410526 GRCh37: X:48544144-48544144
GRCh38: X:48685755-48685755
43 WAS NM_000377.3(WAS):c.1085del (p.Pro362fs) DEL Pathogenic
1441543 GRCh37: X:48547198-48547198
GRCh38: X:48688809-48688809
44 WAS NM_000377.3(WAS):c.1021_1022insT (p.Pro341fs) INSERT Pathogenic
1418621 GRCh37: X:48547138-48547139
GRCh38: X:48688749-48688750
45 WAS NM_000377.3(WAS):c.167C>T (p.Ala56Val) SNV Pathogenic
11116 rs132630269 GRCh37: X:48542706-48542706
GRCh38: X:48684317-48684317
46 WAS NM_000377.3(WAS):c.1001del (p.Gly334fs) DEL Pathogenic
Pathogenic
574368 rs1569494025 GRCh37: X:48547113-48547113
GRCh38: X:48688724-48688724
47 WAS NM_000377.3(WAS):c.559+5G>A SNV Pathogenic
Pathogenic
372545 rs886039451 GRCh37: X:48544528-48544528
GRCh38: X:48686139-48686139
48 WAS NM_000377.3(WAS):c.134C>T (p.Thr45Met) SNV Pathogenic
Pathogenic
11123 rs132630273 GRCh37: X:48542673-48542673
GRCh38: X:48684284-48684284
49 WAS NM_000377.3(WAS):c.631C>T (p.Arg211Ter) SNV Pathogenic
647830 rs1602178165 GRCh37: X:48545241-48545241
GRCh38: X:48686852-48686852
50 WAS NM_000377.3(WAS):c.1090C>T (p.Arg364Ter) SNV Pathogenic
839782 rs2062429013 GRCh37: X:48547207-48547207
GRCh38: X:48688818-48688818

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
Show member pathways
11.42 ZFPM1 GATA1
2 11.08 THPO GATA1
3 10.53 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 transcription repressor complex GO:0017053 9.46 ZFPM1 GATA1
2 protein-DNA complex GO:0032993 9.26 HOXA11 GATA1
3 transcription regulator complex GO:0005667 9.1 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 erythrocyte differentiation GO:0030218 9.8 ZFPM1 GATA1
2 megakaryocyte development GO:0035855 9.73 ZFPM1 THPO
3 platelet formation GO:0030220 9.71 ZFPM1 GATA1
4 anatomical structure morphogenesis GO:0009653 9.62 ZFPM1 HOXA11 GATA1
5 embryonic hemopoiesis GO:0035162 9.54 ZFPM1 GATA1
6 animal organ development GO:0048513 9.48 ZFPM1 GATA1
7 cell development GO:0048468 9.46 HOXA11 GATA1
8 primitive erythrocyte differentiation GO:0060319 9.46 ZFPM1 GATA1
9 system development GO:0048731 9.26 ZFPM1 GATA1
10 regulation of definitive erythrocyte differentiation GO:0010724 9.26 ZFPM1 GATA1
11 megakaryocyte differentiation GO:0030219 9.1 ZFPM1 THPO GATA1

Sources for Thrombocytopenia 1

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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