THC6
MCID: THR110
MIFTS: 26

Thrombocytopenia 6 (THC6)

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

Aliases & Classifications for Thrombocytopenia 6

MalaCards integrated aliases for Thrombocytopenia 6:

Name: Thrombocytopenia 6 57 72 29 6
Thrombocytopenia, Autosomal Dominant, 6 57 72
Thc6 57 72
Hereditary Thrombocytopenia with Early-Onset Myelofibrosis 58

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
one family has been reported (last curated may 2016)


HPO:

31
thrombocytopenia 6:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

OMIM® 57 616937
OMIM Phenotypic Series 57 PS313900
MeSH 44 D013921
Orphanet 58 ORPHA480851

Summaries for Thrombocytopenia 6

OMIM® : 57 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. (616937) (Updated 05-Apr-2021)

MalaCards based summary : Thrombocytopenia 6, is also known as thrombocytopenia, autosomal dominant, 6. An important gene associated with Thrombocytopenia 6 is SRC (SRC Proto-Oncogene, Non-Receptor Tyrosine Kinase). Affiliated tissues include bone, bone marrow and eye, and related phenotypes are osteoporosis and thrombocytopenia

UniProtKB/Swiss-Prot : 72 Thrombocytopenia 6: A form of thrombocytopenia, a hematologic disorder defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. THC6 is an autosomal dominant form. Affected individuals may also have bone abnormalities and an increased risk for myelofibrosis.

Related Diseases for Thrombocytopenia 6

Symptoms & Phenotypes for Thrombocytopenia 6

Human phenotypes related to Thrombocytopenia 6:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 osteoporosis 31 occasional (7.5%) HP:0000939
2 thrombocytopenia 31 HP:0001873
3 deeply set eye 31 HP:0000490
4 large forehead 31 HP:0002003
5 hypotelorism 31 HP:0000601
6 myelofibrosis 31 HP:0011974
7 spontaneous, recurrent epistaxis 31 HP:0004406
8 bone marrow hypercellularity 31 HP:0031020

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Hematology:
thrombocytopenia
enlarged platelets
increased bleeding
some platelets lack alpha-granules
defective megakaryopoiesis
more
Head And Neck Nose:
epistaxis
widely spaced nostrils

Skeletal:
osteoporosis (in some patients)

Head And Neck Face:
large forehead

Head And Neck Eyes:
deep-set eyes
hypotelorism, mild

Head And Neck Teeth:
edentulism, premature

Clinical features from OMIM®:

616937 (Updated 05-Apr-2021)

Drugs & Therapeutics for Thrombocytopenia 6

Search Clinical Trials , NIH Clinical Center for Thrombocytopenia 6

Genetic Tests for Thrombocytopenia 6

Genetic tests related to Thrombocytopenia 6:

# Genetic test Affiliating Genes
1 Thrombocytopenia 6 29 SRC

Anatomical Context for Thrombocytopenia 6

MalaCards organs/tissues related to Thrombocytopenia 6:

40
Bone, Bone Marrow, Eye, Brain, Spinal Cord, Pancreas, Breast

Publications for Thrombocytopenia 6

Articles related to Thrombocytopenia 6:

(show top 50) (show all 82)
# Title Authors PMID Year
1
A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies. 57 6
26936507 2016
2
Repeated Stereotactic Body Radiation Therapy for Hepatocellular Carcinoma. 61
32791232 2021
3
A Phase Ib/II Trial of the First-in-Class Anti-CXCR4 Antibody Ulocuplumab in Combination with Lenalidomide or Bortezomib Plus Dexamethasone in Relapsed Multiple Myeloma. 61
31672767 2020
4
Amanita fuliginea poisoning with thrombocytopenia: A case series. 61
31989928 2020
5
Phase I Dose-Finding Study of OPB-111077, a Novel STAT3 Inhibitor, in Patients with Advanced Hepatocellular Carcinoma. 61
29898591 2019
6
Defining the toxicity of current regimens for extranodal NK/T cell lymphoma: a systematic review and metaproportion. 61
30449214 2019
7
Dose-finding study of oxaliplatin associated to capecitabine-based preoperative chemoradiotherapy in locally advanced rectal cancer. 61
29707156 2018
8
Phase II study of nab-paclitaxel in refractory small bowel adenocarcinoma and CpG island methylator phenotype (CIMP)-high colorectal cancer. 61
29069279 2018
9
Risk of hematologic toxicities with programmed cell death-1 inhibitors in cancer patients: a meta-analysis of current studies. 61
29922039 2018
10
Phase II study of bortezomib, cyclophosphamide and dexamethasone as induction therapy in multiple myeloma: DSMM XI trial. 61
28961309 2017
11
Contrast-induced thrombocytopenia following percutaneous coronary intervention. 61
28652679 2017
12
Cellulase from Trichoderma harzianum interacts with roots and triggers induced systemic resistance to foliar disease in maize. 61
27830829 2016
13
Clinical Features and Outcomes of Patients With Symptomatic Kaposi Sarcoma Herpesvirus (KSHV)-associated Inflammation: Prospective Characterization of KSHV Inflammatory Cytokine Syndrome (KICS). 61
26658701 2016
14
Intensity-modulated whole abdomen irradiation following adjuvant carboplatin/taxane chemotherapy for FIGO stage III ovarian cancer : four-year outcomes. 61
25786589 2015
15
Clinical outcomes of patients with advanced gastrointestinal stromal tumors: safety and efficacy in a worldwide treatment-use trial of sunitinib. 61
25641662 2015
16
Thc6 protein, isolated from Trichoderma harzianum, can induce maize defense response against Curvularia lunata. 61
24771614 2015
17
Feasibility study of combination chemotherapy with paclitaxel, doxorubicin and cisplatin without prophylactic granulocyte colony-stimulating factor injection for intermediate-to-high risk or recurrent endometrial cancer. 61
25183770 2014
18
Phase II study of bortezomib in combination with rituximab, cyclophosphamide and prednisone with or without doxorubicin followed by rituximab maintenance in patients with relapsed or refractory follicular lymphoma. 61
25039282 2014
19
Biweekly combination of trastuzumab, docetaxel and gemcitabine for HER2-positive metastatic breast cancer: results of a Phase II GOIM study. 61
24799054 2014
20
A phase II study of concurrent chemo-radiotherapy with weekly nedaplatin in advanced squamous cell carcinoma of the uterine cervix. 61
24533532 2014
21
A multicentre, phase II trial of ofatumumab monotherapy in relapsed/progressive diffuse large B-cell lymphoma. 61
24032456 2013
22
Sunitinib-induced hyperammonaemia in a patient with pancreatic neuroendocrine tumour. 61
23586819 2013
23
Mitomycin-C-Induced TTP/HUS Treated Successfully with Rituximab: Case Report and Review of the Literature. 61
23762670 2013
24
Clinical features and treatment of multicentric castleman's disease : a retrospective study of 21 Japanese patients at a single institute. 61
23801137 2013
25
A Phase II Trial of Gemcitabine plus Capecitabine for Patients with Advanced Pancreatic Cancer. 61
22802751 2012
26
Asymptomatic macrothrombocytopenia in a young pure-bred beagle dog: a case report. 61
21859886 2011
27
Concurrent chemoradiotherapy with carboplatin followed by carboplatin and 5-fluorouracil in locally advanced nasopharyngeal carcinoma. 61
21639934 2011
28
A feasibility study of carboplatin and weekly paclitaxel combination chemotherapy in endometrial cancer: a Kansai Clinical Oncology Group study (KCOG0015 trial). 61
21075434 2011
29
Sunitinib in metastatic renal cell carcinoma patients with brain metastases. 61
20862748 2011
30
Predicting hematologic toxicity in patients undergoing radioimmunotherapy with 90Y-ibritumomab tiuxetan or 131I-tositumomab. 61
21098795 2010
31
Lenalidomide, bortezomib, and dexamethasone combination therapy in patients with newly diagnosed multiple myeloma. 61
20385792 2010
32
Phase II trial of vinflunine in relapsed small cell lung cancer. 61
20521355 2010
33
Multicenter, phase II study of gemcitabine and S-1 combination chemotherapy in patients with advanced biliary tract cancer. 61
19707761 2010
34
Intravascular large B cell lymphoma in Taiwan: an Asian variant of non-germinal-center origin. 61
20434026 2010
35
Bortezomib as induction before autologous transplantation, followed by lenalidomide as consolidation-maintenance in untreated multiple myeloma patients. 61
20048187 2010
36
Babesiosis caused by a large Babesia species in 7 immunocompromised dogs. 61
20002547 2010
37
Definitive altered fractionation radiotherapy and concomitant weekly cisplatin for locally advanced head and neck cancer. 61
19528791 2009
38
[S-1 monotherapy in patients with pretreated advanced non-small cell lung cancer]. 61
19542716 2009
39
[S-1 activity in non-small cell lung cancer in clinical practice]. 61
19461174 2009
40
Phase II trial of single-agent bevacizumab followed by bevacizumab plus irinotecan at tumor progression in recurrent glioblastoma. 61
19114704 2009
41
Temozolomide for recurrent low-grade spinal cord gliomas in adults. 61
18615600 2008
42
Gemcitabine and cisplatin treatment of advanced-stage non-small-cell lung cancer in patients given cisplatin on day 8. 61
18822681 2008
43
Exchange transfusion in neonatal hyperbilirubinaemia: experience in Isfahan, Iran. 61
17453099 2007
44
Primary renal neoplasia of dogs. 61
17063709 2006
45
[Pregnancy complicated with thrombocytopenia]. 61
17219801 2006
46
Salvage chemotherapy with cyclophosphamide for recurrent temozolomide-refractory anaplastic astrocytoma. 61
16323194 2006
47
Paclitaxel, cisplatin and 5-fluorouracil in recurrent squamous cell carcinoma of the head and neck: a phase II trial from an Italian cooperative group. 61
16546862 2006
48
Phase II study of imatinib mesylate plus hydroxyurea in adults with recurrent glioblastoma multiforme. 61
16361636 2005
49
Phase II study of troxacitabine (BCH-4556) in patients with advanced non-small-cell lung cancer. 61
16211462 2005
50
A novel combination of cisplatin, irinotecan, and capecitabine in patients with advanced cancer. 61
14739668 2004

Variations for Thrombocytopenia 6

ClinVar genetic disease variations for Thrombocytopenia 6:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SRC NM_005417.4(SRC):c.1579G>A (p.Glu527Lys) SNV Pathogenic 225689 rs879255268 GRCh37: 20:36031750-36031750
GRCh38: 20:37403347-37403347

UniProtKB/Swiss-Prot genetic disease variations for Thrombocytopenia 6:

72
# Symbol AA change Variation ID SNP ID
1 SRC p.Glu527Lys VAR_076919 rs879255268

Expression for Thrombocytopenia 6

Search GEO for disease gene expression data for Thrombocytopenia 6.

Pathways for Thrombocytopenia 6

GO Terms for Thrombocytopenia 6

Sources for Thrombocytopenia 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....