THC7
MCID: THR125
MIFTS: 26

Thrombocytopenia 7 (THC7)

Categories: Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Infectious diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Thrombocytopenia 7

MalaCards integrated aliases for Thrombocytopenia 7:

Name: Thrombocytopenia 7 57 73 5
Thrombocytopenia, Autosomal Dominant, 7 57 73
Thc7 57 73

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
incomplete penetrance
highly variable phenotype and severity
some patients have no bleeding episodes


Classifications:



External Ids:

OMIM® 57 619130
OMIM Phenotypic Series 57 PS313900
MeSH 43 D013921
SNOMED-CT via HPO 69 302215000 415116008 47821001

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., 2021). For a general phenotypic description and a discussion of genetic heterogeneity of thrombocytopenia, see 313900. (619130) (Updated 08-Dec-2022)

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 t cells, bone marrow and bone, and related phenotypes are thrombocytopenia and post-partum hemorrhage

UniProtKB/Swiss-Prot: 73 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. THC7 is an autosomal dominant form with highly variable severity, ranging from absence of bleeding symptoms to epistaxis or more severe bleeding episodes.

Related Diseases for Thrombocytopenia 7

Symptoms & Phenotypes for Thrombocytopenia 7

Human phenotypes related to Thrombocytopenia 7:

30 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 thrombocytopenia 30 Very rare (1%) HP:0001873
2 post-partum hemorrhage 30 Very rare (1%) HP:0011891
3 impaired ristocetin-induced platelet aggregation 30 Very rare (1%) HP:0011871
4 impaired adp-induced platelet aggregation 30 Very rare (1%) HP:0004866
5 impaired arachidonic acid-induced platelet aggregation 30 Very rare (1%) HP:0011870
6 impaired collagen-induced platelet aggregation 30 Very rare (1%) HP:0008320
7 reduced platelet dense granules 30 Very rare (1%) HP:0033535
8 reduced platelet alpha granules 30 Very rare (1%) HP:0033536

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Hematology:
thrombocytopenia
normal platelet morphology
elongated platelets
decreased alpha-granules
disorganized cytoskeletal structure and filamentous proteins in platelets
more
Skin Nails Hair Skin:
petechiae

Neurologic Central Nervous System:
delayed development (in some patients)

Head And Neck Nose:
epistaxis

Immunology:
recurrent infections (in some patients)
low numbers of b and t cells (in some patients)

Clinical features from OMIM®:

619130 (Updated 08-Dec-2022)

Drugs & Therapeutics for Thrombocytopenia 7

Search Clinical Trials, NIH Clinical Center for Thrombocytopenia 7

Genetic Tests for Thrombocytopenia 7

Anatomical Context for Thrombocytopenia 7

Organs/tissues related to Thrombocytopenia 7:

MalaCards : T Cells, Bone Marrow, Bone, Lung, Breast, Prostate, Myeloid
ODiseA: Blood And Bone Marrow

Publications for Thrombocytopenia 7

Articles related to Thrombocytopenia 7:

(show top 50) (show all 59)
# Title Authors PMID Year
1
Highly impaired platelet ultrastructure in two families with novel IKZF5 variants. 57 5
32419556 2021
2
Germline mutations in the transcription factor IKZF5 cause thrombocytopenia. 57 5
31217188 2019
3
Neoadjuvant apatinib combined with oxaliplatin and capecitabine in patients with locally advanced adenocarcinoma of stomach or gastroesophageal junction: a single-arm, open-label, phase 2 trial. 62
35382819 2022
4
Lurbinectedin in small cell lung cancer. 62
36110944 2022
5
Outcomes after targeted treatment based on somatic tumor genetic testing for women with gynecologic cancers. 62
34511240 2021
6
Thrombosis and Thrombocytopenia after ChAdOx1 nCoV-19 Vaccination. 62
33835768 2021
7
[Analysis of five children with acquired thrombotic thrombocytopenic purpura]. 62
33657696 2021
8
Oral ibuprofen promoted cholestatic liver disease in very low birth weight infants with patent ductus arteriosus. 62
32723673 2021
9
Evidence of acute phase reaction in asymptomatic dogs naturally infected with Babesia canis. 62
32473353 2020
10
Clinical Characteristics and Outcome of Children Hospitalized With Scrub Typhus in an Area of Endemicity. 62
30864670 2020
11
Clinical features and treatment of 7 Chinese TAFRO syndromes from 96 de novo Castleman diseases: a 10-year retrospective study. 62
31938902 2020
12
Cell-free chromatin particles released from dying host cells are global instigators of endotoxin sepsis in mice. 62
32130239 2020
13
Association of Patterns of Mild Traumatic Brain Injury with Neurologic Deterioration: Experience at a Level I Trauma Center. 62
31723486 2019
14
Molecular remission and response patterns in patients with mutant-IDH2 acute myeloid leukemia treated with enasidenib. 62
30510081 2019
15
Rituximab-based combination therapy in patients with Waldenström macroglobulinemia: a systematic review and meta-analysis. 62
31043792 2019
16
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. 62
30523758 2019
17
Tucatinib Combined With Ado-Trastuzumab Emtansine in Advanced ERBB2/HER2-Positive Metastatic Breast Cancer: A Phase 1b Clinical Trial. 62
29955792 2018
18
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. 62
30102205 2018
19
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. 62
28705540 2018
20
Dexamethasone, rituximab and cyclophosphamide for relapsed and/or refractory and treatment-naïve patients with Waldenstrom macroglobulinemia. 62
28786474 2017
21
Australian taipan (Oxyuranus spp.) envenoming: clinical effects and potential benefits of early antivenom therapy - Australian Snakebite Project (ASP-25). 62
27903075 2017
22
A Phase II Trial of a Histone Deacetylase Inhibitor Panobinostat in Patients With Low-Grade Neuroendocrine Tumors. 62
27261467 2016
23
Sunitinib treatment in patients with advanced renal cell cancer: the Brazilian National Cancer Institute (INCA) experience. 62
27564279 2016
24
A phase II study of bendamustine in combination with rituximab as initial treatment for patients with indolent non-follicular non-Hodgkin lymphoma. 62
26379040 2016
25
Belinostat in Patients With Relapsed or Refractory Peripheral T-Cell Lymphoma: Results of the Pivotal Phase II BELIEF (CLN-19) Study. 62
26101246 2015
26
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. 62
24817603 2014
27
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. 62
24271274 2014
28
Phase II study of pegylated liposomal doxorubicin, low-dose dexamethasone, and lenalidomide in patients with newly diagnosed multiple myeloma. 62
24030918 2014
29
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. 62
23263993 2013
30
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. 62
22025149 2011
31
Thrombocytopenic syndromes masquerading as childhood immune thrombocytopenic purpura. 62
21098529 2011
32
Lenalidomide, melphalan, prednisone and thalidomide (RMPT) for relapsed/refractory multiple myeloma. 62
20376079 2010
33
[Revision of the informed consent form for patients based on investigation of adverse events of mFOLFOX6 regimen]. 62
19838030 2009
34
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. 62
19104814 2009
35
Ixabepilone: a novel microtubule inhibitor for the treatment of locally advanced or metastatic breast cancer. 62
18840366 2008
36
A phase II trial of CHOP chemotherapy followed by yttrium 90 ibritumomab tiuxetan (Zevalin) for previously untreated elderly diffuse large B-cell lymphoma patients. 62
18303033 2008
37
Phase II trial of gemcitabine/carboplatin (plus trastuzumab in HER2-positive disease) in patients with metastatic breast cancer. 62
18621615 2008
38
Phase II study of low-grade non-Hodgkin lymphomas with fludarabine and mitoxantrone followed by rituximab consolidation: promising results in marginal zone lymphoma. 62
18203014 2008
39
Chemotherapy with etoposide, doxorubicin, cisplatin, 5-fluorouracil, and leucovorin for patients with advanced hepatocellular carcinoma. 62
18488159 2008
40
[Treatment results of concurrent chemoradiotherapy with CDDP or CDGP plus 5-FU for carcinoma of the oropharynx and hypopharynx]. 62
17876135 2007
41
Thrombocytopenia related neonatal outcome in preterms. 62
17401266 2007
42
Phase III trial comparing supportive care alone with supportive care with oral topotecan in patients with relapsed small-cell lung cancer. 62
17135646 2006
43
Vascular lesions in nine Göttingen minipigs with thrombocytopenic purpura syndrome. 62
16846986 2006
44
A phase II study of weekly paclitaxel and carboplatin in previously untreated patients with advanced non-small-cell lung cancer. 62
15965277 2005
45
Rituximab for refractory Evans syndrome and other immune-mediated hematologic diseases. 62
15495242 2004
46
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. 62
12910523 2003
47
[Paclitaxel and carboplatin with or without pirarubicin (THP-ADR) as first line chemotherapy in elderly patients]. 62
12610873 2003
48
Delayed profound thrombocytopenia presenting 7 days after use of abciximab (ReoPro). 62
12000974 2002
49
Paclitaxel and carboplatin as outpatient therapy for stage III and IV epithelial ovarian cancer. 62
11677421 2001
50
Preoperative chemoradiotherapy in the treatment of gallbladder cancer. 62
10075301 1999

Variations for Thrombocytopenia 7

ClinVar genetic disease variations for Thrombocytopenia 7:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 IKZF5 NM_001372123.1(IKZF5):c.418T>C (p.Cys140Arg) SNV Pathogenic
1684456 GRCh37: 10:124754138-124754138
GRCh38: 10:122994622-122994622
2 IKZF5 NM_001372123.1(IKZF5):c.463C>T (p.His155Tyr) SNV Pathogenic
1684455 GRCh37: 10:124754093-124754093
GRCh38: 10:122994577-122994577
3 IKZF5 NM_001372123.1(IKZF5):c.355T>C (p.Ser119Pro) SNV Pathogenic/Likely Pathogenic
989447 rs1849295075 GRCh37: 10:124754201-124754201
GRCh38: 10:122994685-122994685
4 IKZF5 NM_001372123.1(IKZF5):c.286C>T (p.Arg96Trp) SNV Pathogenic/Likely Pathogenic
1684458 GRCh37: 10:124755540-124755540
GRCh38: 10:122996024-122996024
5 IKZF5 NM_001372123.1(IKZF5):c.401G>A (p.Gly134Glu) SNV Pathogenic/Likely Pathogenic
1684457 GRCh37: 10:124754155-124754155
GRCh38: 10:122994639-122994639
6 IKZF5 NM_001372123.1(IKZF5):c.362A>T (p.Tyr121Phe) SNV Uncertain Significance
1703863 GRCh37: 10:124754194-124754194
GRCh38: 10:122994678-122994678

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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