THC2
MCID: ANK019
MIFTS: 20

Ankrd26-Related Thrombocytopenia (THC2)

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

Aliases & Classifications for Ankrd26-Related Thrombocytopenia

MalaCards integrated aliases for Ankrd26-Related Thrombocytopenia:

Name: Ankrd26-Related Thrombocytopenia 25
Thrombocytopenia 2 25
Thc2 25

Characteristics:

GeneReviews:

25
Penetrance Penetrance for thrombocytopenia is complete in individuals with an ankrd26 pathogenic variant. the risk of transformation to a myeloid malignancy is variable [noris et al 2013].

Classifications:



Summaries for Ankrd26-Related Thrombocytopenia

MalaCards based summary : Ankrd26-Related Thrombocytopenia, also known as thrombocytopenia 2, is related to thrombocytopenia and thrombocytopenia 2. An important gene associated with Ankrd26-Related Thrombocytopenia is ANKRD26 (Ankyrin Repeat Domain 26). Affiliated tissues include myeloid, prostate and bone marrow, and related phenotype is renal/urinary system.

GeneReviews: NBK507664

Related Diseases for Ankrd26-Related Thrombocytopenia

Graphical network of the top 20 diseases related to Ankrd26-Related Thrombocytopenia:



Diseases related to Ankrd26-Related Thrombocytopenia

Symptoms & Phenotypes for Ankrd26-Related Thrombocytopenia

MGI Mouse Phenotypes related to Ankrd26-Related Thrombocytopenia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 8.62 ANKRD26 MYH9

Drugs & Therapeutics for Ankrd26-Related Thrombocytopenia

Search Clinical Trials , NIH Clinical Center for Ankrd26-Related Thrombocytopenia

Genetic Tests for Ankrd26-Related Thrombocytopenia

Anatomical Context for Ankrd26-Related Thrombocytopenia

MalaCards organs/tissues related to Ankrd26-Related Thrombocytopenia:

40
Myeloid, Prostate, Bone Marrow, Spinal Cord, Colon, Pancreas, Endothelial

Publications for Ankrd26-Related Thrombocytopenia

Articles related to Ankrd26-Related Thrombocytopenia:

(show top 50) (show all 177)
# Title Authors PMID Year
1
Clinic, pathogenic mechanisms and drug testing of two inherited thrombocytopenias, ANKRD26-related Thrombocytopenia and MYH9-related diseases. 61 25
29545013 2018
2
5'UTR point substitutions and N-terminal truncating mutations of ANKRD26 in acute myeloid leukemia. 61 25
28100250 2017
3
Successful use of eltrombopag for surgical preparation in a patient with ANKRD26-related thrombocytopenia. 25 61
27276516 2016
4
Analyses of Genetic and Clinical Parameters for Screening Patients With Inherited Thrombocytopenia with Small or Normal-Sized Platelets. 25 61
26175287 2015
5
Thrombocytopenia-associated mutations in the ANKRD26 regulatory region induce MAPK hyperactivation. 25 61
24430186 2014
6
ANKRD26-related thrombocytopenia and myeloid malignancies. 61 25
24030261 2013
7
Inherited thrombocytopenias frequently diagnosed in adults. 61 25
23510089 2013
8
Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families. 25 61
21467542 2011
9
Clinical spectrum and clonal evolution in germline syndromes with predisposition to myeloid neoplasms. 25
28485484 2018
10
Spectrum of 5'UTR mutations in ANKRD26 gene in patients with inherited thrombocytopenia: c.-140C>G mutation is more frequent than expected. 25
28277066 2017
11
A novel ANKRD26 gene variant causing inherited thrombocytopenia in a family of Finnish origin: Another brick in the wall? 25
28109976 2017
12
Timing, rates and spectra of human germline mutation. 25
26656846 2016
13
Genetic predisposition to myelodysplastic syndrome and acute myeloid leukemia in children and young adults. 25
26693794 2016
14
ASXL1 mutated chronic myelomonocytic leukemia in a patient with familial thrombocytopenia secondary to germline mutation in ANKRD26. 25
26001113 2015
15
A new family with a germline ANKRD26 mutation and predisposition to myeloid malignancies. 25
24628296 2014
16
Inherited predisposition to acute myeloid leukemia. 25
25311743 2014
17
Pathogenesis and management of inherited thrombocytopenias: rationale for the use of thrombopoietin-receptor agonists. 25
23636669 2013
18
A missense mutation in ANKRD26 segregates with thrombocytopenia. 25
23869080 2013
19
Diagnosis and management of inherited thrombocytopenias. 25
23397552 2013
20
Evolution and expression of chimeric POTE-actin genes in the human genome. 25
17101985 2006
21
Cisplatin/capecitabine with intensity-modulated radiation therapy in anal squamous cell carcinoma: a preliminary study. 61
33556252 2021
22
Sub-Tenon Injection of Triamcinolone Acetonide for Choroidal Mass in Sarcoidosis: A Case Report. 61
33542662 2021
23
Update on the Use of Intravenous Immunoglobulin in Pregnancy. 61
33386311 2021
24
Efficacy and safety of diazoxide for treating hyperinsulinemic hypoglycemia: A systematic review and meta-analysis. 61
33571197 2021
25
TTR gene silencing therapy in post liver transplant hereditary ATTR amyloidosis patients. 61
32578459 2020
26
Major Bleeding and Risk of Death after Percutaneous Native Kidney Biopsies: A French Nationwide Cohort Study. 61
33060158 2020
27
Generation of the human induced pluripotent stem cell line (SHAMUi001-A) carrying the heterozygous c.-128G>T mutation in the 5'-UTR of the ANKRD26 gene. 61
32979630 2020
28
Successful management of a pregnant woman with severe ANKRD26-related thrombocytopenia and anti-HPA-5b alloimmunization. 61
31607198 2020
29
Relation between mutations in the 5' UTR of ANKRD26 gene and inherited thrombocytopenia with predisposition to myeloid malignancies. An Egyptian study. 61
32659145 2020
30
Frequency of Thrombocytopenia and Heparin-Induced Thrombocytopenia in Patients Receiving Extracorporeal Membrane Oxygenation Compared With Cardiopulmonary Bypass and the Limited Sensitivity of Pretest Probability Score. 61
32058356 2020
31
A Rare Big Chinese Family With Thrombocytopenia 2: A Case Report and Literature Review. 61
32351539 2020
32
Inherited Thrombocytopenia Caused by Germline ANKRD26 Mutation Should Be Considered in Young Patients With Suspected Myelodysplastic Syndrome. 61
32618208 2020
33
[Familial leukemia due to germline RUNX1 mutations: lessons learned from two decades of research and unsolved problems]. 61
32624544 2020
34
First-in-Human Study of Mivebresib (ABBV-075), an Oral Pan-Inhibitor of Bromodomain and Extra Terminal Proteins, in Patients with Relapsed/Refractory Solid Tumors. 61
31420359 2019
35
Recurrent immune thrombocytopenia following different vaccines. 61
31540926 2019
36
Hematologic toxicity of radium-223 in elderly patients with metastatic Castration Resistant Prostate Cancer: a real-life experience. 61
30937295 2019
37
Multiple Myeloma in a Patient with ANKRD26-Related Thrombocytopenia Successfully Treated with Combination Therapy and Autologous Stem Cell Transplant. 61
31281687 2019
38
[Mutation of ANKRD26 is responsible for thrombocytopenia 2 (THC2) : a family report in China]. 61
30369212 2018
39
[Diagnosis and treatment of five neonatal cerebral venous sinus thrombosis]. 61
30293281 2018
40
Maternal incompatibilities with fetal human platelet alloantigens -1a, -1b and -15 are the main causes of neonatal alloimmune thrombocytopenia in Russia. 61
30701924 2018
41
A comparative prospective observational study of children and adults with immune thrombocytopenia: 2-year follow-up. 61
29516627 2018
42
ANKRD26-Related Thrombocytopenia 61
29927566 2018
43
Risk of hematologic toxicities with programmed cell death-1 inhibitors in cancer patients: a meta-analysis of current studies. 61
29922039 2018
44
Inherited thrombocytopenia caused by ANKRD26 mutations misdiagnosed and treated as myelodysplastic syndrome: report on two cases. 61
28976612 2017
45
A phase II trial of lenalidomide plus rituximab in previously untreated follicular non-Hodgkin's lymphoma (NHL): CALGB 50803 (Alliance). 61
28945884 2017
46
Extramedullary hematopoiesis: a new feature of inherited thrombocytopenias? 61
28921865 2017
47
Neoadjuvant chemotherapy with trastuzumab, docetaxel, and carboplatin administered every 3 weeks for Japanese women with HER2-positive primary breast cancer: efficacy and safety. 61
28547525 2017
48
A Retrospective Study on the Safety and Efficacy of Leflunomide in Dogs. 61
28833582 2017
49
Selinexor-induced thrombocytopenia results from inhibition of thrombopoietin signaling in early megakaryopoiesis. 61
28630120 2017
50
Heparin and homogeneous model heparin oligosaccharides form distinct complexes with protamine: Light scattering and zeta potential analysis. 61
28346881 2017

Variations for Ankrd26-Related Thrombocytopenia

Expression for Ankrd26-Related Thrombocytopenia

Search GEO for disease gene expression data for Ankrd26-Related Thrombocytopenia.

Pathways for Ankrd26-Related Thrombocytopenia

GO Terms for Ankrd26-Related Thrombocytopenia

Sources for Ankrd26-Related Thrombocytopenia

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57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
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71 UMLS via Orphanet
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