U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Thrombocytopenia 6(THC6)

MedGen UID:
934756
•Concept ID:
C4310789
•
Disease or Syndrome
Synonyms: THC6; THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 6
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Gene (location): SRC (20q11.23)
 
Monarch Initiative: MONDO:0014837
OMIM®: 616937
Orphanet: ORPHA480851

Definition

Thrombocytopenia-6 is an autosomal dominant hematologic disorder characterized by increased bleeding episodes due to reduced platelet count and abnormal platelet morphology resulting from defective megakaryopoiesis. Patients may also have bone abnormalities, including osteoporosis or tooth loss, as well as an increased risk for myelofibrosis (summary by Turro et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of thrombocytopenia, see 313900. [from OMIM]

Clinical features

From HPO
Myelofibrosis
MedGen UID:
10146
•Concept ID:
C0026987
•
Neoplastic Process
Replacement of bone marrow by fibrous tissue.
See: Feature record | Search on this feature
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
Bone marrow hypercellularity
MedGen UID:
605828
•Concept ID:
C0427703
•
Finding
A larger than normal amount or percentage of hematopoietic cells relative to marrow fat.
See: Feature record | Search on this feature
Abnormal bleeding
MedGen UID:
264316
•Concept ID:
C1458140
•
Pathologic Function
An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects.
See: Feature record | Search on this feature
Spontaneous, recurrent epistaxis
MedGen UID:
816045
•Concept ID:
C3809715
•
Finding
See: Feature record | Search on this feature
Osteoporosis
MedGen UID:
14535
•Concept ID:
C0029456
•
Disease or Syndrome
Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).
See: Feature record | Search on this feature
Large forehead
MedGen UID:
326962
•Concept ID:
C1839783
•
Finding
See: Feature record | Search on this feature
Deeply set eye
MedGen UID:
473112
•Concept ID:
C0423224
•
Finding
An eye that is more deeply recessed into the plane of the face than is typical.
See: Feature record | Search on this feature
Hypotelorism
MedGen UID:
96107
•Concept ID:
C0424711
•
Finding
Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes).
See: Feature record | Search on this feature
Show allHide all

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVThrombocytopenia 6

Professional guidelines

PubMed

Clinical features and antibiotic treatment of early-onset neonatal listeriosis.
Wu F, Nizar S, Zhang L, Wang F, Lin X, Zhou X
J Int Med Res 2022 Aug;50(8):3000605221117207. doi: 10.1177/03000605221117207. PMID: 36003027Free PMC Article
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
Irinotecan and temozolamide treatment for relapsed Ewing sarcoma: a single-center experience and review of the literature.
Kurucu N, Sari N, Ilhan IE
Pediatr Hematol Oncol 2015 Feb;32(1):50-9. Epub 2014 Sep 24 doi: 10.3109/08880018.2014.954070. PMID: 25252096

Recent clinical studies

Etiology

Real-life use of mTOR inhibitor-based therapy in adults with autoimmune cytopenia highlights strong efficacy in relapsing/refractory multi-lineage autoimmune cytopenia.
Sorin B, Fadlallah J, Garzaro M, Vigneron J, Bertinchamp R, Boutboul D, Oksenhendler E, Fieschi C, Malphettes M, Galicier L
Ann Hematol 2023 Aug;102(8):2059-2068. Epub 2023 Jun 29 doi: 10.1007/s00277-023-05340-0. PMID: 37386347
Anti-SSA/SSB-negative primary Sjögren's syndrome showing different clinical phenotypes: a retrospective study of 934 cases.
Chen J, He Q, Yang J, Wu T, Huang Z, Zhang Y, Liao J, Zhang L, Yu X, Yao C, Luo J, Tao Q
Adv Rheumatol 2023 May 15;63(1):21. doi: 10.1186/s42358-023-00304-4. PMID: 37189182
Clinical features and antibiotic treatment of early-onset neonatal listeriosis.
Wu F, Nizar S, Zhang L, Wang F, Lin X, Zhou X
J Int Med Res 2022 Aug;50(8):3000605221117207. doi: 10.1177/03000605221117207. PMID: 36003027Free PMC Article
Thrombosis with thrombocytopenia after AZD1222 (ChAdOx1 nCov-19) vaccination: Case characteristics and associations.
Laffan MA, Rees S, Yadavalli M, Ferstenberg LB, Kumar Shankar N, Medin J, Foskett N, Arnold M, Gomes da Silva H, Bhuyan P, Nord M
Vaccine 2022 Sep 9;40(38):5585-5593. Epub 2022 Aug 19 doi: 10.1016/j.vaccine.2022.08.007. PMID: 35989136Free PMC Article
Repeated Stereotactic Body Radiation Therapy for Hepatocellular Carcinoma.
Eriguchi T, Tsukamoto N, Kuroiwa N, Nemoto T, Ogata T, Okubo Y, Nakano S, Sugawara A
Pract Radiat Oncol 2021 Jan-Feb;11(1):44-52. Epub 2020 Aug 10 doi: 10.1016/j.prro.2020.08.002. PMID: 32791232

Diagnosis

Clinical features and antibiotic treatment of early-onset neonatal listeriosis.
Wu F, Nizar S, Zhang L, Wang F, Lin X, Zhou X
J Int Med Res 2022 Aug;50(8):3000605221117207. doi: 10.1177/03000605221117207. PMID: 36003027Free PMC Article
Thrombosis with thrombocytopenia after AZD1222 (ChAdOx1 nCov-19) vaccination: Case characteristics and associations.
Laffan MA, Rees S, Yadavalli M, Ferstenberg LB, Kumar Shankar N, Medin J, Foskett N, Arnold M, Gomes da Silva H, Bhuyan P, Nord M
Vaccine 2022 Sep 9;40(38):5585-5593. Epub 2022 Aug 19 doi: 10.1016/j.vaccine.2022.08.007. PMID: 35989136Free PMC Article
Integrated Human and Murine Clinical Study Establishes Clinical Efficacy of Ruxolitinib in Chronic Myelomonocytic Leukemia.
Hunter AM, Newman H, Dezern AE, Steensma DP, Niyongere S, Roboz GJ, Mo Q, Chan O, Gerds A, Sallman DA, Dominguez-Viqueira W, Letson C, Balasis ME, Ball M, Kruer T, Zhang H, Lancet JE, List AF, Sekeres MA, Komrokji RS, Padron E
Clin Cancer Res 2021 Nov 15;27(22):6095-6105. Epub 2021 Jul 12 doi: 10.1158/1078-0432.CCR-21-0935. PMID: 34253584Free PMC Article
Continuous lenalidomide treatment after bortezomib-melphalan-prednisolone therapy for newly diagnosed multiple myeloma.
Ishida T, Kimura H, Ozaki S, Kubo K, Sunami K, Takezako N, Fujita H, Hayashi T, Kiguchi T, Ohashi K, Yamamoto S, Takamatsu H, Kosugi H, Ohta K, Sakai R, Handa H, Kondo S, Abe Y, Omoto E, Mitani K, Morita S, Murakami H, Shimizu K
Ann Hematol 2020 May;99(5):1063-1072. Epub 2020 Apr 4 doi: 10.1007/s00277-020-03988-6. PMID: 32248251
Amanita fuliginea poisoning with thrombocytopenia: A case series.
Wang Q, Sun M, Lv H, Lu P, Ma C, Liu Y, Liu S, Tong H, Hu Z, Gao Y
Toxicon 2020 Jan 30;174:43-47. Epub 2019 Dec 24 doi: 10.1016/j.toxicon.2019.12.156. PMID: 31989928

Therapy

Pembrolizumab plus vorinostat induces responses in patients with Hodgkin lymphoma refractory to prior PD-1 blockade.
Mei M, Chen L, Godfrey J, Song J, Egelston C, Puverel S, Budde LE, Armenian S, Nikolaenko L, Nwangwu M, Guo W, Gao L, Lee P, Chen R, Daniels S, Kennedy N, Peters L, Zain J, Rosen S, Forman S, Popplewell L, Kwak L, Herrera AF
Blood 2023 Oct 19;142(16):1359-1370. doi: 10.1182/blood.2023020485. PMID: 37339586
Clinical features and antibiotic treatment of early-onset neonatal listeriosis.
Wu F, Nizar S, Zhang L, Wang F, Lin X, Zhou X
J Int Med Res 2022 Aug;50(8):3000605221117207. doi: 10.1177/03000605221117207. PMID: 36003027Free PMC Article
Thrombosis with thrombocytopenia after AZD1222 (ChAdOx1 nCov-19) vaccination: Case characteristics and associations.
Laffan MA, Rees S, Yadavalli M, Ferstenberg LB, Kumar Shankar N, Medin J, Foskett N, Arnold M, Gomes da Silva H, Bhuyan P, Nord M
Vaccine 2022 Sep 9;40(38):5585-5593. Epub 2022 Aug 19 doi: 10.1016/j.vaccine.2022.08.007. PMID: 35989136Free PMC Article
Meta-analysis of FOLFIRINOX-based neoadjuvant therapy for locally advanced pancreatic cancer.
Chen Z, Lv Y, Li H, Diao R, Zhou J, Yu T
Medicine (Baltimore) 2021 Jan 22;100(3):e24068. doi: 10.1097/MD.0000000000024068. PMID: 33546009Free PMC Article
Repeated Stereotactic Body Radiation Therapy for Hepatocellular Carcinoma.
Eriguchi T, Tsukamoto N, Kuroiwa N, Nemoto T, Ogata T, Okubo Y, Nakano S, Sugawara A
Pract Radiat Oncol 2021 Jan-Feb;11(1):44-52. Epub 2020 Aug 10 doi: 10.1016/j.prro.2020.08.002. PMID: 32791232

Prognosis

Integrated Human and Murine Clinical Study Establishes Clinical Efficacy of Ruxolitinib in Chronic Myelomonocytic Leukemia.
Hunter AM, Newman H, Dezern AE, Steensma DP, Niyongere S, Roboz GJ, Mo Q, Chan O, Gerds A, Sallman DA, Dominguez-Viqueira W, Letson C, Balasis ME, Ball M, Kruer T, Zhang H, Lancet JE, List AF, Sekeres MA, Komrokji RS, Padron E
Clin Cancer Res 2021 Nov 15;27(22):6095-6105. Epub 2021 Jul 12 doi: 10.1158/1078-0432.CCR-21-0935. PMID: 34253584Free PMC Article
Repeated Stereotactic Body Radiation Therapy for Hepatocellular Carcinoma.
Eriguchi T, Tsukamoto N, Kuroiwa N, Nemoto T, Ogata T, Okubo Y, Nakano S, Sugawara A
Pract Radiat Oncol 2021 Jan-Feb;11(1):44-52. Epub 2020 Aug 10 doi: 10.1016/j.prro.2020.08.002. PMID: 32791232
Continuous lenalidomide treatment after bortezomib-melphalan-prednisolone therapy for newly diagnosed multiple myeloma.
Ishida T, Kimura H, Ozaki S, Kubo K, Sunami K, Takezako N, Fujita H, Hayashi T, Kiguchi T, Ohashi K, Yamamoto S, Takamatsu H, Kosugi H, Ohta K, Sakai R, Handa H, Kondo S, Abe Y, Omoto E, Mitani K, Morita S, Murakami H, Shimizu K
Ann Hematol 2020 May;99(5):1063-1072. Epub 2020 Apr 4 doi: 10.1007/s00277-020-03988-6. PMID: 32248251
Biweekly cisplatin and gemcitabine in patients with advanced biliary tract cancer.
Ahn DH, Reardon J, Ahn CW, Bupathi M, Mikhail S, Wu CS, Bekaii-Saab T
Int J Cancer 2018 Apr 15;142(8):1671-1675. Epub 2017 Nov 17 doi: 10.1002/ijc.31144. PMID: 29114851
Irinotecan and temozolamide treatment for relapsed Ewing sarcoma: a single-center experience and review of the literature.
Kurucu N, Sari N, Ilhan IE
Pediatr Hematol Oncol 2015 Feb;32(1):50-9. Epub 2014 Sep 24 doi: 10.3109/08880018.2014.954070. PMID: 25252096

Clinical prediction guides

Pralsetinib in RET fusion-positive non-small-cell lung cancer: A real-world data (RWD) analysis from the Italian expanded access program (EAP).
Passaro A, Russo GL, Passiglia F, D'Arcangelo M, Sbrana A, Russano M, Bonanno L, Giusti R, Metro G, Bertolini F, Grisanti S, Carta A, Cecere F, Montrone M, Massa G, Perrone F, Simionato F, Guaitoli G, Scotti V, Genova C, Lugini A, Bonomi L, Attili I, de Marinis F
Lung Cancer 2022 Dec;174:118-124. Epub 2022 Nov 9 doi: 10.1016/j.lungcan.2022.11.005. PMID: 36379124
Integrated Human and Murine Clinical Study Establishes Clinical Efficacy of Ruxolitinib in Chronic Myelomonocytic Leukemia.
Hunter AM, Newman H, Dezern AE, Steensma DP, Niyongere S, Roboz GJ, Mo Q, Chan O, Gerds A, Sallman DA, Dominguez-Viqueira W, Letson C, Balasis ME, Ball M, Kruer T, Zhang H, Lancet JE, List AF, Sekeres MA, Komrokji RS, Padron E
Clin Cancer Res 2021 Nov 15;27(22):6095-6105. Epub 2021 Jul 12 doi: 10.1158/1078-0432.CCR-21-0935. PMID: 34253584Free PMC Article
Pathologic Antibodies to Platelet Factor 4 after ChAdOx1 nCoV-19 Vaccination.
Scully M, Singh D, Lown R, Poles A, Solomon T, Levi M, Goldblatt D, Kotoucek P, Thomas W, Lester W
N Engl J Med 2021 Jun 10;384(23):2202-2211. Epub 2021 Apr 16 doi: 10.1056/NEJMoa2105385. PMID: 33861525Free PMC Article
Meta-analysis of FOLFIRINOX-based neoadjuvant therapy for locally advanced pancreatic cancer.
Chen Z, Lv Y, Li H, Diao R, Zhou J, Yu T
Medicine (Baltimore) 2021 Jan 22;100(3):e24068. doi: 10.1097/MD.0000000000024068. PMID: 33546009Free PMC Article
Repeated Stereotactic Body Radiation Therapy for Hepatocellular Carcinoma.
Eriguchi T, Tsukamoto N, Kuroiwa N, Nemoto T, Ogata T, Okubo Y, Nakano S, Sugawara A
Pract Radiat Oncol 2021 Jan-Feb;11(1):44-52. Epub 2020 Aug 10 doi: 10.1016/j.prro.2020.08.002. PMID: 32791232

Recent systematic reviews

Lessons Learned From the Clinical Presentation of Common Variable Immunodeficiency Disorders: A Systematic Review and Meta-Analysis.
Janssen LMA, van der Flier M, de Vries E
Front Immunol 2021;12:620709. Epub 2021 Mar 23 doi: 10.3389/fimmu.2021.620709. PMID: 33833753Free PMC Article
Defining the toxicity of current regimens for extranodal NK/T cell lymphoma: a systematic review and metaproportion.
Pokrovsky VS, Vinnikov D
Expert Rev Anticancer Ther 2019 Jan;19(1):93-104. Epub 2018 Nov 23 doi: 10.1080/14737140.2019.1549992. PMID: 30449214
Optimal first-line chemotherapeutic treatment in patients with locally advanced or metastatic esophagogastric carcinoma: triplet versus doublet chemotherapy: a systematic literature review and meta-analysis.
Mohammad NH, ter Veer E, Ngai L, Mali R, van Oijen MG, van Laarhoven HW
Cancer Metastasis Rev 2015 Sep;34(3):429-41. doi: 10.1007/s10555-015-9576-y. PMID: 26267802Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...