THC7
MCID: THR125
MIFTS: 23

Thrombocytopenia 7 (THC7)

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

Aliases & Classifications for Thrombocytopenia 7

MalaCards integrated aliases for Thrombocytopenia 7:

Name: Thrombocytopenia 7 57 6
Thrombocytopenia, Autosomal Dominant, 7 57
Thc7 57

Characteristics:

HPO:

31
thrombocytopenia 7:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 619130
OMIM Phenotypic Series 57 PS313900

Summaries for Thrombocytopenia 7

OMIM® : 57 Thrombocytopenia-7 (THC7) is an autosomal dominant disorder characterized by reduced peripheral platelet count. The expression and severity of the disorder is highly variable: some patients have no bleeding symptoms, whereas other have recurrent petechiae, epistaxis, or more severe bleeding episodes. A common finding is decreased alpha-granules in the platelets. There are variable findings on light and electron microscopic analysis: some patients have normal platelet morphology, whereas others show abnormal platelet morphology with cytoskeletal defects. Flow cytometric studies may show reduced expression of platelet membrane glycoproteins and activation markers (summary by Lentaigne et al., 2019 and Leinoe et al., 2020). For a general phenotypic description and a discussion of genetic heterogeneity of thrombocytopenia, see 313900. (619130) (Updated 05-Mar-2021)

MalaCards based summary : Thrombocytopenia 7, is also known as thrombocytopenia, autosomal dominant, 7. An important gene associated with Thrombocytopenia 7 is IKZF5 (IKAROS Family Zinc Finger 5). Affiliated tissues include breast, prostate and bone, and related phenotypes are thrombocytopenia and post-partum hemorrhage

Related Diseases for Thrombocytopenia 7

Symptoms & Phenotypes for Thrombocytopenia 7

Human phenotypes related to Thrombocytopenia 7:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 thrombocytopenia 31 very rare (1%) HP:0001873
2 post-partum hemorrhage 31 very rare (1%) HP:0011891
3 impaired ristocetin-induced platelet aggregation 31 very rare (1%) HP:0011871
4 impaired adp-induced platelet aggregation 31 very rare (1%) HP:0004866
5 impaired arachidonic acid-induced platelet aggregation 31 very rare (1%) HP:0011870
6 impaired collagen-induced platelet aggregation 31 very rare (1%) HP:0008320

Clinical features from OMIM®:

619130 (Updated 05-Mar-2021)

Drugs & Therapeutics for Thrombocytopenia 7

Search Clinical Trials , NIH Clinical Center for Thrombocytopenia 7

Genetic Tests for Thrombocytopenia 7

Anatomical Context for Thrombocytopenia 7

MalaCards organs/tissues related to Thrombocytopenia 7:

40
Breast, Prostate, Bone, Brain, Liver, Myeloid

Publications for Thrombocytopenia 7

Articles related to Thrombocytopenia 7:

(show top 50) (show all 53)
# Title Authors PMID Year
1
Highly impaired platelet ultrastructure in two families with novel IKZF5 variants. 6 57
32419556 2020
2
Germline mutations in the transcription factor IKZF5 cause thrombocytopenia. 57 6
31217188 2019
3
Oral ibuprofen promoted cholestatic liver disease in very low birth weight infants with patent ductus arteriosus. 61
32723673 2020
4
Evidence of acute phase reaction in asymptomatic dogs naturally infected with Babesia canis. 61
32473353 2020
5
Clinical Characteristics and Outcome of Children Hospitalized With Scrub Typhus in an Area of Endemicity. 61
30864670 2020
6
Clinical features and treatment of 7 Chinese TAFRO syndromes from 96 de novo Castleman diseases: a 10-year retrospective study. 61
31938902 2020
7
Cell-free chromatin particles released from dying host cells are global instigators of endotoxin sepsis in mice. 61
32130239 2020
8
Association of Patterns of Mild Traumatic Brain Injury with Neurologic Deterioration: Experience at a Level I Trauma Center. 61
31723486 2019
9
Molecular remission and response patterns in patients with mutant-IDH2 acute myeloid leukemia treated with enasidenib. 61
30510081 2019
10
Rituximab-based combination therapy in patients with Waldenström macroglobulinemia: a systematic review and meta-analysis. 61
31043792 2019
11
Phase I/II Trial to Evaluate the Efficacy and Safety of Nanoparticle Albumin-Bound Paclitaxel in Combination With Gemcitabine in Patients With Pancreatic Cancer and an ECOG Performance Status of 2. 61
30523758 2019
12
Tucatinib Combined With Ado-Trastuzumab Emtansine in Advanced ERBB2/HER2-Positive Metastatic Breast Cancer: A Phase 1b Clinical Trial. 61
29955792 2018
13
Phase 2 Study of First-line Intensity Modulated Radiation Therapy Followed by Gemcitabine, Dexamethasone, and Cisplatin for High-Risk, Early Stage Extranodal Nasal-Type NK/T-Cell Lymphoma: The GREEN Study. 61
30102205 2018
14
Three-year Safety of Radium-223 Dichloride in Patients with Castration-resistant Prostate Cancer and Symptomatic Bone Metastases from Phase 3 Randomized Alpharadin in Symptomatic Prostate Cancer Trial. 61
28705540 2018
15
Dexamethasone, rituximab and cyclophosphamide for relapsed and/or refractory and treatment-naïve patients with Waldenstrom macroglobulinemia. 61
28786474 2017
16
Australian taipan (Oxyuranus spp.) envenoming: clinical effects and potential benefits of early antivenom therapy - Australian Snakebite Project (ASP-25). 61
27903075 2017
17
Sunitinib treatment in patients with advanced renal cell cancer: the Brazilian National Cancer Institute (INCA) experience. 61
27564279 2016
18
A Phase II Trial of a Histone Deacetylase Inhibitor Panobinostat in Patients With Low-Grade Neuroendocrine Tumors. 61
27261467 2016
19
A phase II study of bendamustine in combination with rituximab as initial treatment for patients with indolent non-follicular non-Hodgkin lymphoma. 61
26379040 2016
20
Belinostat in Patients With Relapsed or Refractory Peripheral T-Cell Lymphoma: Results of the Pivotal Phase II BELIEF (CLN-19) Study. 61
26101246 2015
21
Phase II study evaluating the efficacy, safety, and pharmacodynamic correlative study of dual antiangiogenic inhibition using bevacizumab in combination with sorafenib in patients with advanced malignant melanoma. 61
24817603 2014
22
A phase 1 open-label, sequential dose-escalation study investigating the safety, tolerability, and pharmacokinetics of intravenous TLC388 administered to patients with advanced solid tumors. 61
24271274 2014
23
Phase II study of pegylated liposomal doxorubicin, low-dose dexamethasone, and lenalidomide in patients with newly diagnosed multiple myeloma. 61
24030918 2014
24
A phase I study of sorafenib, oxaliplatin and 2 days of high dose capecitabine in advanced pancreatic and biliary tract cancer: a Wisconsin oncology network study. 61
23263993 2013
25
R1507, a monoclonal antibody to the insulin-like growth factor 1 receptor, in patients with recurrent or refractory Ewing sarcoma family of tumors: results of a phase II Sarcoma Alliance for Research through Collaboration study. 61
22025149 2011
26
Thrombocytopenic syndromes masquerading as childhood immune thrombocytopenic purpura. 61
21098529 2011
27
Lenalidomide, melphalan, prednisone and thalidomide (RMPT) for relapsed/refractory multiple myeloma. 61
20376079 2010
28
[Revision of the informed consent form for patients based on investigation of adverse events of mFOLFOX6 regimen]. 61
19838030 2009
29
A phase II trial evaluating capecitabine and irinotecan as second line treatment in patients with oesophago-gastric cancer who have progressed on, or within 3 months of platinum-based chemotherapy. 61
19104814 2009
30
Ixabepilone: a novel microtubule inhibitor for the treatment of locally advanced or metastatic breast cancer. 61
18840366 2008
31
A phase II trial of CHOP chemotherapy followed by yttrium 90 ibritumomab tiuxetan (Zevalin) for previously untreated elderly diffuse large B-cell lymphoma patients. 61
18303033 2008
32
Phase II trial of gemcitabine/carboplatin (plus trastuzumab in HER2-positive disease) in patients with metastatic breast cancer. 61
18621615 2008
33
Chemotherapy with etoposide, doxorubicin, cisplatin, 5-fluorouracil, and leucovorin for patients with advanced hepatocellular carcinoma. 61
18488159 2008
34
Phase II study of low-grade non-Hodgkin lymphomas with fludarabine and mitoxantrone followed by rituximab consolidation: promising results in marginal zone lymphoma. 61
18203014 2008
35
[Treatment results of concurrent chemoradiotherapy with CDDP or CDGP plus 5-FU for carcinoma of the oropharynx and hypopharynx]. 61
17876135 2007
36
Thrombocytopenia related neonatal outcome in preterms. 61
17401266 2007
37
Phase III trial comparing supportive care alone with supportive care with oral topotecan in patients with relapsed small-cell lung cancer. 61
17135646 2006
38
Vascular lesions in nine Göttingen minipigs with thrombocytopenic purpura syndrome. 61
16846986 2006
39
A phase II study of weekly paclitaxel and carboplatin in previously untreated patients with advanced non-small-cell lung cancer. 61
15965277 2005
40
Rituximab for refractory Evans syndrome and other immune-mediated hematologic diseases. 61
15495242 2004
41
The impact of age on toxicity, response rate, quality of life, and survival in patients with advanced, Stage IIIB or IV nonsmall cell lung carcinoma treated with carboplatin and paclitaxel. 61
12910523 2003
42
[Paclitaxel and carboplatin with or without pirarubicin (THP-ADR) as first line chemotherapy in elderly patients]. 61
12610873 2003
43
Delayed profound thrombocytopenia presenting 7 days after use of abciximab (ReoPro). 61
12000974 2002
44
Paclitaxel and carboplatin as outpatient therapy for stage III and IV epithelial ovarian cancer. 61
11677421 2001
45
Preoperative chemoradiotherapy in the treatment of gallbladder cancer. 61
10075301 1999
46
Anti-platelet antibodies in patients with systemic lupus erythematosus and the primary antiphospholipid antibody syndrome: their relationship with the observed thrombocytopenia. 61
9266930 1997
47
Chronic isolated macrothrombocytopenia with autosomal dominant transmission: a morphological and qualitative platelet disorder. 61
9020372 1997
48
Partial substitution of cisplatin with carboplatin in combination with etoposide in advanced non-small cell lung cancer (NSCLC): a multicentric randomised phase II trial. 61
8865128 1996
49
Systemic lupus erythematosus complicated by thrombotic microangiopathy. 61
7899875 1994
50
Nephropathia epidemica (hemorrhagic fever with renal syndrome) in children: clinical characteristics. 61
7909597 1994

Variations for Thrombocytopenia 7

ClinVar genetic disease variations for Thrombocytopenia 7:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 IKZF5 H155Y Variation Pathogenic 989443
2 IKZF5 C140R Variation Pathogenic 989444
3 IKZF5 G134E Variation Pathogenic 989445
4 IKZF5 IKZF5, ARG96TRP Variation Pathogenic 989446
5 IKZF5 NM_001372123.1(IKZF5):c.355T>C (p.Ser119Pro) SNV Pathogenic 989447 10:124754201-124754201 10:122994685-122994685

Expression for Thrombocytopenia 7

Search GEO for disease gene expression data for Thrombocytopenia 7.

Pathways for Thrombocytopenia 7

GO Terms for Thrombocytopenia 7

Sources for Thrombocytopenia 7

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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