Full Report

Format

Full Report
Summary (Text)
Summary (XML)

Send to:

Choose Destination

File
Clipboard
Collections

Thrombocytopenia 2(THC2)

MedGen UID:: 349976
•Concept ID:: C1861185
•: Disease or Syndrome

Synonyms:	THC2; Thrombocytopenia autosomal dominant 2

Gene (location): Gene(s) directly associated with this condition or phenotype.	ANKRD26 (10p12.1)

Monarch Initiative:	MONDO:0008555
OMIM®:	188000

Disease characteristics

Excerpted from the GeneReview: ANKRD26-Related Thrombocytopenia

ANKRD26-related thrombocytopenia is characterized by lifelong mild-to-moderate thrombocytopenia with a normal platelet size and no syndromic associations. Most individuals have normal hemostasis or a mild bleeding phenotype and do not develop severe spontaneous bleeding. Some individuals may have concomitant erythrocytosis and leukocytosis. The risk for myeloid malignancies (including myelodysplastic syndrome, acute myelogenous leukemia, and chronic myelogenous leukemia) is increased in individuals with ANKRD26 pathogenic variants. [from GeneReviews]

Authors:
Juliana Perez Botero | Stefanie N Dugan | Matthew W Anderson view full author information

Additional description

From OMIM
Thrombocytopenia-2 (THC2) is an autosomal dominant nonsyndromic disorder characterized by decreased numbers of normal platelets, resulting in a mild bleeding tendency. Laboratory studies show no defects in platelet function or morphology, and bone marrow examination shows normal numbers of megakaryocytes and normal maturation stages, suggesting defective platelet production or release (summary by Pippucci et al., 2011). For a discussion of genetic heterogeneity of thrombocytopenia, see 313900. http://www.omim.org/entry/188000

Clinical features

From HPO

Thrombocytopenia

MedGen UID:: 52737
•Concept ID:: C0040034
•: Disease or Syndrome

A reduction in the number of circulating thrombocytes.

See: Feature record | Search on this feature

Increased megakaryocyte colony forming unit count

MedGen UID:: 1814116
•Concept ID:: C5558381
•: Finding

Increased numbers of megakryocyte precursors (megakaryocyte colony forming units) in the bone marrow.

See: Feature record | Search on this feature

Leukocytosis

MedGen UID:: 9736
•Concept ID:: C0023518
•: Disease or Syndrome

An abnormal increase in the number of leukocytes in the blood.

See: Feature record | Search on this feature

Bruising susceptibility

MedGen UID:: 140849
•Concept ID:: C0423798
•: Finding

An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.

See: Feature record | Search on this feature

Show all Hide all

Abnormality of blood and blood-forming tissues
- Increased megakaryocyte colony forming unit count
- Thrombocytopenia
Abnormality of the immune system
- Leukocytosis
Abnormality of the integument
- Bruising susceptibility

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVThrombocytopenia 2

Pathological Conditions, Signs and Symptoms
- Pathological process
  - Disease
    - Non-Neoplastic Disorder
      - Non-Neoplastic Disorder by Special Category
        Rare Non-Neoplastic Disorder
        Thrombocytopenia 2

Professional guidelines

PubMed

Safety and Survival Outcomes of (177)Lu-Prostate-Specific Membrane Antigen Therapy in Patients with Metastatic Castration-Resistant Prostate Cancer with Prior (223)Ra treatment: The RALU Study.

Rahbar K, Essler M, Pabst KM, Eiber M, Fougère C, Prasad V, Rassek P, Hasa E, Dittmann H, Bundschuh RA, Fendler WP, Kurtinecz M, Schmall A, Verholen F, Sartor O
J Nucl Med 2023 Apr;64(4):574-578. Epub 2022 Oct 27 doi: 10.2967/jnumed.122.264456. PMID: 36302656 Free PMC Article

Treatment patterns and burden of myelosuppression for patients with small cell lung cancer: A SEER-medicare study.

Epstein RS, Nelms J, Moran D, Girman C, Huang H, Chioda M
Cancer Treat Res Commun 2022;31:100555. Epub 2022 Apr 4 doi: 10.1016/j.ctarc.2022.100555. PMID: 35421820

Evaluation of risk factors associated with carboplatin and nab-paclitaxel treatment suspension in patients with non-small cell lung cancer.

Saito Y, Takekuma Y, Shinagawa N, Sugawara M
Support Care Cancer 2022 May;30(5):4081-4088. Epub 2022 Jan 23 doi: 10.1007/s00520-021-06757-x. PMID: 35066667

See all (18)

Recent clinical studies

Etiology

Safety and Survival Outcomes of (177)Lu-Prostate-Specific Membrane Antigen Therapy in Patients with Metastatic Castration-Resistant Prostate Cancer with Prior (223)Ra treatment: The RALU Study.

Biomarkers and outcomes of COVID-19 hospitalisations: systematic review and meta-analysis.

Malik P, Patel U, Mehta D, Patel N, Kelkar R, Akrmah M, Gabrilove JL, Sacks H
BMJ Evid Based Med 2021 Jun;26(3):107-108. Epub 2020 Sep 15 doi: 10.1136/bmjebm-2020-111536. PMID: 32934000 Free PMC Article

Palbociclib in Hormone-Receptor-Positive Advanced Breast Cancer.

Turner NC, Ro J, André F, Loi S, Verma S, Iwata H, Harbeck N, Loibl S, Huang Bartlett C, Zhang K, Giorgetti C, Randolph S, Koehler M, Cristofanilli M; PALOMA3 Study Group
N Engl J Med 2015 Jul 16;373(3):209-19. Epub 2015 Jun 1 doi: 10.1056/NEJMoa1505270. PMID: 26030518

Heparin-induced thrombocytopenia in critically ill patients.

Warkentin TE
Semin Thromb Hemost 2015 Feb;41(1):49-60. Epub 2015 Jan 15 doi: 10.1055/s-0034-1398381. PMID: 25590528

Drug-induced thrombocytopenia in children.

Reese JA, Nguyen LP, Buchanan GR, Curtis BR, Terrell DR, Vesely SK, George JN
Pediatr Blood Cancer 2013 Dec;60(12):1975-81. Epub 2013 Aug 30 doi: 10.1002/pbc.24682. PMID: 24038783

See all (109)

Diagnosis

Potential biomarkers for inherited thrombocytopenia 2 identified by plasma proteomics.

Wang X, Chen M, Dai L, Tan C, Hu L, Zhang Y, Xiao Y, Li F, Zeng C, Xiang Z, Wang Y, Zhang W, Zhang X, Ran Q, Li Z, Chen L
Platelets 2022 Apr 3;33(3):443-450. Epub 2021 Jun 8 doi: 10.1080/09537104.2021.1937594. PMID: 34101524

CDK4/6 Inhibitors and Arthralgia: A Single Institution Experience.

Andrikopoulou A, Fiste O, Apostolidou K, Skafida E, Markellos C, Liontos M, Kyriazoglou A, Dimopoulos MA, Zagouri F
Med Sci (Basel) 2021 Jun 5;9(2) doi: 10.3390/medsci9020042. PMID: 34198899 Free PMC Article

Biomarkers and outcomes of COVID-19 hospitalisations: systematic review and meta-analysis.

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.

Arachchillage DRJ, Laffan M, Khanna S, Vandenbriele C, Kamani F, Passariello M, Rosenberg A, Aw TC, Banya W, Ledot S, Patel BV
Crit Care Med 2020 May;48(5):e371-e379. doi: 10.1097/CCM.0000000000004261. PMID: 32058356

Drug-induced immune thrombocytopenia: incidence, clinical features, laboratory testing, and pathogenic mechanisms.

Curtis BR
Immunohematology 2014;30(2):55-65. PMID: 25247620

See all (61)

Therapy

Safety and Survival Outcomes of (177)Lu-Prostate-Specific Membrane Antigen Therapy in Patients with Metastatic Castration-Resistant Prostate Cancer with Prior (223)Ra treatment: The RALU Study.

Potential biomarkers for inherited thrombocytopenia 2 identified by plasma proteomics.

Biomarkers and outcomes of COVID-19 hospitalisations: systematic review and meta-analysis.

Palbociclib in Hormone-Receptor-Positive Advanced Breast Cancer.

Heparin-induced thrombocytopenia in critically ill patients.

Warkentin TE
Semin Thromb Hemost 2015 Feb;41(1):49-60. Epub 2015 Jan 15 doi: 10.1055/s-0034-1398381. PMID: 25590528

See all (140)

Prognosis

Potential biomarkers for inherited thrombocytopenia 2 identified by plasma proteomics.

Biomarkers and outcomes of COVID-19 hospitalisations: systematic review and meta-analysis.

Drug-induced immune thrombocytopenia: incidence, clinical features, laboratory testing, and pathogenic mechanisms.

Curtis BR
Immunohematology 2014;30(2):55-65. PMID: 25247620

Immune thrombocytopenia in pregnancy: autoimmune and alloimmune.

Bussel JB
J Reprod Immunol 1997 Dec 15;37(1):35-61. doi: 10.1016/s0165-0378(97)00072-7. PMID: 9501289

See all (64)

Clinical prediction guides

Potential biomarkers for inherited thrombocytopenia 2 identified by plasma proteomics.

Biomarkers and outcomes of COVID-19 hospitalisations: systematic review and meta-analysis.

Phase 2 study of gandotinib (LY2784544) in patients with myeloproliferative neoplasms.

Berdeja J, Palandri F, Baer MR, Quick D, Kiladjian JJ, Martinelli G, Verma A, Hamid O, Walgren R, Pitou C, Li PL, Gerds AT
Leuk Res 2018 Aug;71:82-88. Epub 2018 Jun 30 doi: 10.1016/j.leukres.2018.06.014. PMID: 30025280

Immune thrombocytopenia in pregnancy: autoimmune and alloimmune.

Bussel JB
J Reprod Immunol 1997 Dec 15;37(1):35-61. doi: 10.1016/s0165-0378(97)00072-7. PMID: 9501289

See all (68)

Recent systematic reviews

Evaluate Short-Term Outcomes of abciximab in ST-Segment Elevation Myocardial Infarction Patients Undergoing Percutaneous Coronary Intervention: A Meta-Analysis of Randomized Clinical Trials.

Bai N, Niu Y, Ma Y, Shang YS, Zhong PY, Wang ZL
J Interv Cardiol 2022;2022:3911414. Epub 2022 May 29 doi: 10.1155/2022/3911414. PMID: 35685429 Free PMC Article

Efficacy and safety of diazoxide for treating hyperinsulinemic hypoglycemia: A systematic review and meta-analysis.

Chen X, Feng L, Yao H, Yang L, Qin Y
PLoS One 2021;16(2):e0246463. Epub 2021 Feb 11 doi: 10.1371/journal.pone.0246463. PMID: 33571197 Free PMC Article

Biomarkers and outcomes of COVID-19 hospitalisations: systematic review and meta-analysis.

Relative effectiveness and safety of chemotherapy in elderly and nonelderly patients with stage III colon cancer: a systematic review.

Hung A, Mullins CD
Oncologist 2013;18(1):54-63. Epub 2013 Jan 8 doi: 10.1634/theoncologist.2012-0050. PMID: 23299774 Free PMC Article

See all (4)

MedGen

National Center for Biotechnology Information

Send to:

Thrombocytopenia 2(THC2)

Disease characteristics

Additional description

Clinical features

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

Molecular resources

Consumer resources

Reviews

Recent activity