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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): Gene(s) directly associated with this condition or phenotype.	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.

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Spontaneous, recurrent epistaxis

MedGen UID:: 816045
•Concept ID:: C3809715
•: Finding

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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).

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Large forehead

MedGen UID:: 326962
•Concept ID:: C1839783
•: Finding

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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.

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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

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Abnormality of blood and blood-forming tissues
Abnormality of head or neck
- Large forehead
Abnormality of the eye
- Deeply set eye
- Hypotelorism
Abnormality of the musculoskeletal system
- Osteoporosis

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVThrombocytopenia 6

Hematopoietic and Lymphatic System Disorder
- Hematologic disorder
  - Bone marrow disorder
    - Bone marrow neoplasm
      - Bone marrow cancer
        Myeloproliferative neoplasm
        Thrombocytopenia 6

Professional guidelines

PubMed

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Blood Adv 2024 Jun 25;8(12):3092-3108. doi: 10.1182/bloodadvances.2023011000. PMID: 38593221 Free PMC Article

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: 36003027 Free PMC Article

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

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Recent clinical studies

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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
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Integrated Human and Murine Clinical Study Establishes Clinical Efficacy of Ruxolitinib in Chronic Myelomonocytic Leukemia.

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Pathologic Antibodies to Platelet Factor 4 after ChAdOx1 nCoV-19 Vaccination.

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Diagnosis

Multicentre phase II trial of cabozantinib in patients with hepatocellular carcinoma after immune checkpoint inhibitor treatment.

Chan SL, Ryoo BY, Mo F, Chan LL, Cheon J, Li L, Wong KH, Yim N, Kim H, Yoo C
J Hepatol 2024 Aug;81(2):258-264. Epub 2024 Apr 1 doi: 10.1016/j.jhep.2024.03.033. PMID: 38570034

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: 36003027 Free PMC Article

Thrombosis with thrombocytopenia after AZD1222 (ChAdOx1 nCov-19) vaccination: Case characteristics and associations.

Integrated Human and Murine Clinical Study Establishes Clinical Efficacy of Ruxolitinib in Chronic Myelomonocytic Leukemia.

Amanita fuliginea poisoning with thrombocytopenia: A case series.

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Therapy

Multicentre phase II trial of cabozantinib in patients with hepatocellular carcinoma after immune checkpoint inhibitor treatment.

Chan SL, Ryoo BY, Mo F, Chan LL, Cheon J, Li L, Wong KH, Yim N, Kim H, Yoo C
J Hepatol 2024 Aug;81(2):258-264. Epub 2024 Apr 1 doi: 10.1016/j.jhep.2024.03.033. PMID: 38570034

Pembrolizumab plus vorinostat induces responses in patients with Hodgkin lymphoma refractory to prior PD-1 blockade.

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Sodium valproate and thrombocytopenia.

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Prognosis

Multicentre phase II trial of cabozantinib in patients with hepatocellular carcinoma after immune checkpoint inhibitor treatment.

Chan SL, Ryoo BY, Mo F, Chan LL, Cheon J, Li L, Wong KH, Yim N, Kim H, Yoo C
J Hepatol 2024 Aug;81(2):258-264. Epub 2024 Apr 1 doi: 10.1016/j.jhep.2024.03.033. PMID: 38570034

Integrated Human and Murine Clinical Study Establishes Clinical Efficacy of Ruxolitinib in Chronic Myelomonocytic Leukemia.

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

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Sodium valproate and thrombocytopenia.

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Integrated Human and Murine Clinical Study Establishes Clinical Efficacy of Ruxolitinib in Chronic Myelomonocytic Leukemia.

Pathologic Antibodies to Platelet Factor 4 after ChAdOx1 nCoV-19 Vaccination.

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

Sodium valproate and thrombocytopenia.

Miyake S, Honda K, Kimura S, Ike Y
Brain Dev 1979;1(4):319-22. doi: 10.1016/s0387-7604(79)80048-0. PMID: 121951

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Recent systematic reviews

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MedGen

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Thrombocytopenia 6(THC6)

Definition

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