THC1
MCID: THR042
MIFTS: 45

Thrombocytopenia, X-Linked (THC1) malady

Categories: Genetic diseases, Rare diseases, Blood diseases

Aliases & Classifications for Thrombocytopenia, X-Linked

Aliases & Descriptions for Thrombocytopenia, X-Linked:

Name: Thrombocytopenia, X-Linked 54 50 13
Thrombocytopenia 1 54 50 25 66 52 69
Xlt 50 24 25 66
X-Linked Thrombocytopenia 50 24 25
X-Linked Thrombocytopenia with Normal Platelets 50 56
Thrombocytopenia, X-Linked, Intermittent 54 29
Thrombocytopenia X-Linked 66 29
Thc1 50 66
Thrombocytopenia X-Linked 1 66

Characteristics:

HPO:

32
thrombocytopenia, x-linked:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 54 313900
Orphanet 56 ORPHA852
ICD10 via Orphanet 34 D69.4
MeSH 42 D013921

Summaries for Thrombocytopenia, X-Linked

OMIM : 54 Hereditary nonsyndromic thrombocytopenia is characterized by decreased numbers of platelets and bleeding tendency... (313900) more...

MalaCards based summary : Thrombocytopenia, X-Linked, also known as thrombocytopenia 1, is related to thrombocytopenia, x-linked, with or without dyserythropoietic anemia and anemia, x-linked, with/without neutropenia and/or platelet abnormalities, and has symptoms including abnormality of the musculature, epistaxis and bruising susceptibility. An important gene associated with Thrombocytopenia, X-Linked is WAS (Wiskott-Aldrich Syndrome), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Factors involved in megakaryocyte development and platelet production. The drugs Lenograstim and Acetaminophen have been mentioned in the context of this disorder. Affiliated tissues include brain, and related phenotypes are hematopoietic system and immune system

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.

UniProtKB/Swiss-Prot : 66 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.

Wikipedia : 71 X-linked thrombocytopenia, also referred to as XLT or thrombocytopenia 1, is an inherited clotting... more...

Related Diseases for Thrombocytopenia, X-Linked

Graphical network of the top 20 diseases related to Thrombocytopenia, X-Linked:



Diseases related to Thrombocytopenia, X-Linked

Symptoms & Phenotypes for Thrombocytopenia, X-Linked

Symptoms by clinical synopsis from OMIM:

313900

Clinical features from OMIM:

313900

Human phenotypes related to Thrombocytopenia, X-Linked:

32 (show all 11)
id 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 intermittent thrombocytopenia 32 HP:0004854
9 decreased mean platelet volume 32 HP:0005537
10 joint hemorrhage 32 HP:0005261
11 congenital thrombocytopenia 32 HP:0001905

MGI Mouse Phenotypes related to Thrombocytopenia, X-Linked:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.26 GATA1 THPO WAS ZFPM1
2 immune system MP:0005387 8.92 GATA1 THPO WAS ZFPM1

Drugs & Therapeutics for Thrombocytopenia, X-Linked

Drugs for Thrombocytopenia, X-Linked (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 55)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lenograstim Approved Phase 2 135968-09-1
2
Acetaminophen Approved Phase 2 103-90-2 1983
3
alemtuzumab Approved, Investigational Phase 2 216503-57-0
4
Diphenhydramine Approved Phase 2 58-73-1, 147-24-0 3100
5
Epinephrine Approved, Vet_approved Phase 2 51-43-4 5816
6
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
7
Hydroxyurea Approved Phase 2 127-07-1 3657
8
Melphalan Approved Phase 2 148-82-3 4053 460612
9
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
10
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
11
Promethazine Approved Phase 2 60-87-7 4927
12
Thiotepa Approved Phase 2 52-24-4 5453
13
Vidarabine Approved Phase 2 24356-66-9 32326 21704
14
Mechlorethamine Approved Phase 2 51-75-2 4033
15
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
16
Mycophenolate mofetil Approved, Investigational Phase 2 128794-94-5 5281078
17
Mycophenolic acid Approved Phase 2 24280-93-1 446541
18
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492
19
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
20
leucovorin Approved, Nutraceutical Phase 2 58-05-9 54575, 6560146 143
21 Adjuvants, Immunologic Phase 2
22 Alkylating Agents Phase 2
23 Anti-Bacterial Agents Phase 2
24 Antibiotics, Antitubercular Phase 2
25 Anti-Infective Agents Phase 2
26 Antimetabolites Phase 2
27 Antimetabolites, Antineoplastic Phase 2
28 Antineoplastic Agents, Alkylating Phase 2
29 Antiviral Agents Phase 2
30 Epinephryl borate Phase 2
31 Immunosuppressive Agents Phase 2
32 Methylprednisolone acetate Phase 2
33 Methylprednisolone Hemisuccinate Phase 2
34 Nucleic Acid Synthesis Inhibitors Phase 2
35 Prednisolone acetate Phase 2
36 Prednisolone hemisuccinate Phase 2
37 Prednisolone phosphate Phase 2
38 Racepinephrine Phase 2
39 Anti-HIV Agents Phase 2
40 Anti-Retroviral Agents Phase 2
41 JM 3100 Phase 2
42 Antirheumatic Agents Phase 2
43 Calcineurin Inhibitors Phase 2
44 Dermatologic Agents Phase 2
45 Folic Acid Antagonists Phase 2
46 Vidarabine Phosphate Phase 2
47 Vitamin B Complex Phase 2
48 Folate Nutraceutical Phase 2
49 phenylalanine Nutraceutical Phase 2
50 Vitamin B9 Nutraceutical Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase
1 Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells Completed NCT00730314 Phase 1, Phase 2
2 Phase II Pilot Study of Granulocyte Colony-Stimulating Factor for Inherited Bone Marrow Failure Syndromes Completed NCT00004787 Phase 2
3 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2
4 A Trial of Plerixafor/G-CSF as Additional Agents for Conditioning Before TCR Alpha/Beta Depleted HSCT in WAS Patients Recruiting NCT03019809 Phase 2
5 Thrombocytopenia and Bleeding in Wiskott-Aldrich Syndrome (WAS) Patients Active, not recruiting NCT00909363 Phase 2
6 Fludarabine Phosphate, Melphalan, and Low-Dose Total-Body Irradiation Followed by Donor Peripheral Blood Stem Cell Transplant in Treating Patients With Hematologic Malignancies Active, not recruiting NCT01529827 Phase 2
7 Interleukin-2 Treatment for Wiskott-Aldrich Syndrome Completed NCT00774358 Phase 1
8 Human Placental-Derived Stem Cell Transplantation Recruiting NCT01586455 Phase 1
9 Investigation of the Genetics of Hematologic Diseases Recruiting NCT02720679
10 Patients Treated for Wiskott-Aldrich Syndrome (WAS) Since 1990 Recruiting NCT02064933

Search NIH Clinical Center for Thrombocytopenia, X-Linked

Genetic Tests for Thrombocytopenia, X-Linked

Genetic tests related to Thrombocytopenia, X-Linked:

id Genetic test Affiliating Genes
1 Thrombocytopenia, X-Linked 29
2 Thrombocytopenia, X-Linked, Intermittent 29
3 X-Linked Thrombocytopenia 24

Anatomical Context for Thrombocytopenia, X-Linked

MalaCards organs/tissues related to Thrombocytopenia, X-Linked:

39
Brain

Publications for Thrombocytopenia, X-Linked

Variations for Thrombocytopenia, X-Linked

UniProtKB/Swiss-Prot genetic disease variations for Thrombocytopenia, X-Linked:

66
id 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 rs28935178
10 WAS p.Ile481Asn VAR_033257 rs132630276

ClinVar genetic disease variations for Thrombocytopenia, X-Linked:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 WAS NM_000377.2(WAS): c.167C> T (p.Ala56Val) single nucleotide variant Pathogenic rs132630269 GRCh37 Chromosome X, 48542706: 48542706
2 WAS NM_000377.2(WAS): c.707C> G (p.Ala236Gly) single nucleotide variant Pathogenic rs132630270 GRCh37 Chromosome X, 48545317: 48545317
3 WAS WAS, 1-BP INS, 512C insertion Pathogenic
4 WAS NM_000377.2(WAS): c.134C> T (p.Thr45Met) single nucleotide variant Pathogenic rs132630273 GRCh37 Chromosome X, 48542673: 48542673
5 WAS NM_000377.2(WAS): c.173C> G (p.Pro58Arg) single nucleotide variant Pathogenic rs132630275 GRCh37 Chromosome X, 48542712: 48542712
6 WAS NM_000377.2(WAS): c.1442T> A (p.Ile481Asn) single nucleotide variant Pathogenic rs132630276 GRCh37 Chromosome X, 48547812: 48547812
7 WAS WAS, IVS6DS, G-A, +5 single nucleotide variant Pathogenic
8 WAS NM_000377.2(WAS): c.777+1G> A single nucleotide variant Pathogenic rs1057517845 GRCh37 Chromosome X, 48546486: 48546486

Expression for Thrombocytopenia, X-Linked

Search GEO for disease gene expression data for Thrombocytopenia, X-Linked.

Pathways for Thrombocytopenia, X-Linked

GO Terms for Thrombocytopenia, X-Linked

Cellular components related to Thrombocytopenia, X-Linked according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 transcription factor complex GO:0005667 8.96 GATA1 ZFPM1
2 transcriptional repressor complex GO:0017053 8.62 GATA1 ZFPM1

Biological processes related to Thrombocytopenia, X-Linked according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 erythrocyte differentiation GO:0030218 9.43 GATA1 ZFPM1
2 blood coagulation GO:0007596 9.43 GATA1 WAS ZFPM1
3 myeloid cell differentiation GO:0030099 9.4 GATA1 THPO
4 platelet formation GO:0030220 9.37 GATA1 ZFPM1
5 embryonic hemopoiesis GO:0035162 9.32 GATA1 ZFPM1
6 megakaryocyte differentiation GO:0030219 9.16 GATA1 ZFPM1
7 regulation of definitive erythrocyte differentiation GO:0010724 8.96 GATA1 ZFPM1
8 transcriptional activation by promoter-enhancer looping GO:0071733 8.62 GATA1 ZFPM1

Molecular functions related to Thrombocytopenia, X-Linked according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding GO:0001078 9.16 GATA1 ZFPM1
2 RNA polymerase II core promoter sequence-specific DNA binding GO:0000979 8.96 GATA1 ZFPM1
3 RNA polymerase II transcription factor binding GO:0001085 8.62 GATA1 ZFPM1

Sources for Thrombocytopenia, X-Linked

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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