THC2
MCID: THR037
MIFTS: 36

Thrombocytopenia 2 (THC2)

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

Aliases & Classifications for Thrombocytopenia 2

MalaCards integrated aliases for Thrombocytopenia 2:

Name: Thrombocytopenia 2 57 20 72 29 13 6 70
Thc2 57 20 72
Thrombocytopenia, Autosomal Dominant, 2 57 72
Thrombocytopenia Autosomal Dominant 2 20 72
Thrombocytopenia, Type 2 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
thrombocytopenia 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 188000
OMIM Phenotypic Series 57 PS313900
MeSH 44 D013921
MedGen 41 C1861185
UMLS 70 C1861185

Summaries for Thrombocytopenia 2

OMIM® : 57 Thrombocytopenia-2 is an autosomal dominant nonsyndromic disorder characterized by decreased numbers of normal platelets, resulting in a mild bleeding tendency. Laboratory studies show no defects in platelet function or morphology, and bone marrow examination shows normal numbers of megakaryocytes and normal maturation stages, suggesting defective platelet production or release (summary by Pippucci et al., 2011). (188000) (Updated 20-May-2021)

MalaCards based summary : Thrombocytopenia 2, also known as thc2, is related to thrombocytopenia and radioulnar synostosis with amegakaryocytic thrombocytopenia 2. An important gene associated with Thrombocytopenia 2 is ANKRD26 (Ankyrin Repeat Domain 26). Affiliated tissues include bone marrow, lung and breast, and related phenotypes are thrombocytopenia and bruising susceptibility

UniProtKB/Swiss-Prot : 72 Thrombocytopenia 2: Thrombocytopenia is defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting.

Related Diseases for Thrombocytopenia 2

Graphical network of the top 20 diseases related to Thrombocytopenia 2:



Diseases related to Thrombocytopenia 2

Symptoms & Phenotypes for Thrombocytopenia 2

Human phenotypes related to Thrombocytopenia 2:

31
# Description HPO Frequency HPO Source Accession
1 thrombocytopenia 31 HP:0001873
2 bruising susceptibility 31 HP:0000978

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skin Nails Hair Skin:
mild-moderate bruisability

Hematology:
thrombocytopenia (mean 42.7 x 10(9)/l)
normal platelet size (normal mpv)
increased megakaryocyte colony forming units (cfu-mk)
increased total white blood count
increased plasma thrombopoietin (tpo)

Clinical features from OMIM®:

188000 (Updated 20-May-2021)

Drugs & Therapeutics for Thrombocytopenia 2

Search Clinical Trials , NIH Clinical Center for Thrombocytopenia 2

Genetic Tests for Thrombocytopenia 2

Genetic tests related to Thrombocytopenia 2:

# Genetic test Affiliating Genes
1 Thrombocytopenia 2 29 ANKRD26

Anatomical Context for Thrombocytopenia 2

MalaCards organs/tissues related to Thrombocytopenia 2:

40
Bone Marrow, Lung, Breast, Kidney, Liver, Prostate, Bone

Publications for Thrombocytopenia 2

Articles related to Thrombocytopenia 2:

(show top 50) (show all 186)
# Title Authors PMID Year
1
Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2. 57 6 61
21211618 2011
2
An autosomal dominant thrombocytopenia gene maps to chromosomal region 10p. 61 6 57
10521306 1999
3
A mutation in the acyl-coenzyme A binding domain-containing protein 5 gene (ACBD5 ) identified in autosomal dominant thrombocytopenia. 57 6
20626622 2010
4
FLJ14813 missense mutation: a candidate for autosomal dominant thrombocytopenia on human chromosome 10. 57 61
12890928 2003
5
Autosomal dominant thrombocytopenia: incomplete megakaryocyte differentiation and linkage to human chromosome 10. 57
10891439 2000
6
Familial dominant thrombocytopenia: clinical, biologic, and molecular studies. 57
10541317 1999
7
Effective splenectomy in familial isolated thrombocytopenia. 57
1536144 1992
8
Genetic thrombocytopenia with autosomal dominant transmission: a review of 54 cases. 57
2317455 1990
9
Hereditary thrombocytopenia with excessively prolonged bleeding time, corrected by infusions of platelet poor plasma. 57
3787172 1986
10
Familial hereditary thrombocytopenia and HLA. 57
6465131 1984
11
Familial thrombocytopenia associated with platelet autoantibodies and chromosome breakage. 57
6421717 1984
12
Hereditary thrombocytopenia with an intrinsic platelet defect. 57
5818100 1969
13
Congenital thrombocytopenia with giant platelets: a defect in the platelet membrane. 57
4893927 1969
14
Hereditary thrombocytopenia with excessively prolonged bleeding time. 57
5348279 1969
15
Hereditary thrombocytopenia. Report of three families. 57
6082223 1967
16
[Familial thrombocytopenia]. 57
6066662 1967
17
Familial chronic thrombocytopenia with platelet autoantibodies. 57
4953957 1965
18
THROMBOCYTOPENIA INHERITED AS AN AUTOSOMAL DOMINANT TRAIT. 57
14267699 1965
19
Inherited thrombocytopenia. 57
4161668 1965
20
Hereditary hypoplastic thrombocytopenia. 57
13992635 1963
21
Hereditary thrombopathic thrombocytopenia. 57
13972751 1963
22
Cisplatin/capecitabine with intensity-modulated radiation therapy in anal squamous cell carcinoma: a preliminary study. 61
33556252 2021
23
Update on the Use of Intravenous Immunoglobulin in Pregnancy. 61
33386311 2021
24
Sub-Tenon Injection of Triamcinolone Acetonide for Choroidal Mass in Sarcoidosis: A Case Report. 61
33542662 2021
25
Efficacy and safety of diazoxide for treating hyperinsulinemic hypoglycemia: A systematic review and meta-analysis. 61
33571197 2021
26
TTR gene silencing therapy in post liver transplant hereditary ATTR amyloidosis patients. 61
32578459 2020
27
Major Bleeding and Risk of Death after Percutaneous Native Kidney Biopsies: A French Nationwide Cohort Study. 61
33060158 2020
28
Generation of the human induced pluripotent stem cell line (SHAMUi001-A) carrying the heterozygous c.-128G>T mutation in the 5'-UTR of the ANKRD26 gene. 61
32979630 2020
29
Frequency of Thrombocytopenia and Heparin-Induced Thrombocytopenia in Patients Receiving Extracorporeal Membrane Oxygenation Compared With Cardiopulmonary Bypass and the Limited Sensitivity of Pretest Probability Score. 61
32058356 2020
30
Inherited Thrombocytopenia Caused by Germline ANKRD26 Mutation Should Be Considered in Young Patients With Suspected Myelodysplastic Syndrome. 61
32618208 2020
31
A Rare Big Chinese Family With Thrombocytopenia 2: A Case Report and Literature Review. 61
32351539 2020
32
[Familial leukemia due to germline RUNX1 mutations: lessons learned from two decades of research and unsolved problems]. 61
32624544 2020
33
First-in-Human Study of Mivebresib (ABBV-075), an Oral Pan-Inhibitor of Bromodomain and Extra Terminal Proteins, in Patients with Relapsed/Refractory Solid Tumors. 61
31420359 2019
34
Recurrent immune thrombocytopenia following different vaccines. 61
31540926 2019
35
Hematologic toxicity of radium-223 in elderly patients with metastatic Castration Resistant Prostate Cancer: a real-life experience. 61
30937295 2019
36
[Diagnosis and treatment of five neonatal cerebral venous sinus thrombosis]. 61
30293281 2018
37
[Mutation of ANKRD26 is responsible for thrombocytopenia 2 (THC2) : a family report in China]. 61
30369212 2018
38
Maternal incompatibilities with fetal human platelet alloantigens -1a, -1b and -15 are the main causes of neonatal alloimmune thrombocytopenia in Russia. 61
30701924 2018
39
A comparative prospective observational study of children and adults with immune thrombocytopenia: 2-year follow-up. 61
29516627 2018
40
Risk of hematologic toxicities with programmed cell death-1 inhibitors in cancer patients: a meta-analysis of current studies. 61
29922039 2018
41
Inherited thrombocytopenia caused by ANKRD26 mutations misdiagnosed and treated as myelodysplastic syndrome: report on two cases. 61
28976612 2017
42
A phase II trial of lenalidomide plus rituximab in previously untreated follicular non-Hodgkin's lymphoma (NHL): CALGB 50803 (Alliance). 61
28945884 2017
43
Neoadjuvant chemotherapy with trastuzumab, docetaxel, and carboplatin administered every 3 weeks for Japanese women with HER2-positive primary breast cancer: efficacy and safety. 61
28547525 2017
44
A Retrospective Study on the Safety and Efficacy of Leflunomide in Dogs. 61
28833582 2017
45
Selinexor-induced thrombocytopenia results from inhibition of thrombopoietin signaling in early megakaryopoiesis. 61
28630120 2017
46
Heparin and homogeneous model heparin oligosaccharides form distinct complexes with protamine: Light scattering and zeta potential analysis. 61
28346881 2017
47
Phase I study of nanoparticle albumin-bound paclitaxel, carboplatin and trastuzumab in women with human epidermal growth factor receptor 2-overexpressing breast cancer. 61
28413662 2017
48
Pressure-induced structural transformations and polymerization in ThC2. 61
28383571 2017
49
5'UTR point substitutions and N-terminal truncating mutations of ANKRD26 in acute myeloid leukemia. 61
28100250 2017
50
Developing a model to estimate the probability of bacteremia in women with community-onset febrile urinary tract infection. 61
27886035 2016

Variations for Thrombocytopenia 2

ClinVar genetic disease variations for Thrombocytopenia 2:

6 (show top 50) (show all 141)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ANKRD26 ANKRD26, -128G-A SNV Pathogenic 30855 GRCh37:
GRCh38:
2 ANKRD26 ANKRD26, -127A-T SNV Pathogenic 30854 GRCh37:
GRCh38:
3 ANKRD26 NM_014915.2(ANKRD26):c.-134G>A SNV Pathogenic 30853 rs863223318 GRCh37: 10:27389389-27389389
GRCh38: 10:27100460-27100460
4 ANKRD26 NM_014915.2(ANKRD26):c.-126T>C SNV Pathogenic/Likely pathogenic 626941 rs1589393792 GRCh37: 10:27389381-27389381
GRCh38: 10:27100452-27100452
5 ANKRD26 NM_014915.3(ANKRD26):c.2476G>T (p.Glu826Ter) SNV Likely pathogenic 828130 rs1589257502 GRCh37: 10:27326883-27326883
GRCh38: 10:27037954-27037954
6 ANKRD26 NM_014915.2(ANKRD26):c.-119C>G SNV Likely pathogenic 434210 rs1554800065 GRCh37: 10:27389374-27389374
GRCh38: 10:27100445-27100445
7 ANKRD26 NM_014915.2(ANKRD26):c.153C>G (p.His51Gln) SNV Conflicting interpretations of pathogenicity 210181 rs139049098 GRCh37: 10:27389103-27389103
GRCh38: 10:27100174-27100174
8 ANKRD26 NM_014915.2(ANKRD26):c.4636G>C (p.Asp1546His) SNV Conflicting interpretations of pathogenicity 434206 rs753924410 GRCh37: 10:27303511-27303511
GRCh38: 10:27014582-27014582
9 ANKRD26 NM_014915.3(ANKRD26):c.4595A>G (p.Asp1532Gly) SNV Uncertain significance 880010 GRCh37: 10:27303552-27303552
GRCh38: 10:27014623-27014623
10 ANKRD26 NM_014915.3(ANKRD26):c.*566G>A SNV Uncertain significance 879641 GRCh37: 10:27293953-27293953
GRCh38: 10:27005024-27005024
11 ANKRD26 NM_014915.3(ANKRD26):c.*482A>C SNV Uncertain significance 879642 GRCh37: 10:27294037-27294037
GRCh38: 10:27005108-27005108
12 ANKRD26 NM_014915.3(ANKRD26):c.*69T>C SNV Uncertain significance 879643 GRCh37: 10:27294450-27294450
GRCh38: 10:27005521-27005521
13 ANKRD26 NM_014915.3(ANKRD26):c.-138C>A SNV Uncertain significance 880167 GRCh37: 10:27389393-27389393
GRCh38: 10:27100464-27100464
14 ANKRD26 NM_014915.3(ANKRD26):c.3686C>T (p.Ala1229Val) SNV Uncertain significance 930454 GRCh37: 10:27322275-27322275
GRCh38: 10:27033346-27033346
15 ANKRD26 NM_014915.3(ANKRD26):c.5102_5106del (p.Val1701fs) Deletion Uncertain significance 992979 GRCh37: 10:27294546-27294550
GRCh38: 10:27005617-27005621
16 ANKRD26 NM_014915.3(ANKRD26):c.244A>G (p.Thr82Ala) SNV Uncertain significance 1030442 GRCh37: 10:27382727-27382727
GRCh38: 10:27093798-27093798
17 ANKRD26 NM_014915.3(ANKRD26):c.1537A>G (p.Met513Val) SNV Uncertain significance 1033717 GRCh37: 10:27349301-27349301
GRCh38: 10:27060372-27060372
18 ANKRD26 NM_014915.3(ANKRD26):c.371A>T (p.Gln124Leu) SNV Uncertain significance 1033718 GRCh37: 10:27382438-27382438
GRCh38: 10:27093509-27093509
19 ANKRD26 NM_014915.3(ANKRD26):c.4725-15C>T SNV Uncertain significance 880009 GRCh37: 10:27302054-27302054
GRCh38: 10:27013125-27013125
20 ANKRD26 NM_014915.3(ANKRD26):c.1787C>T (p.Pro596Leu) SNV Uncertain significance 877276 GRCh37: 10:27337757-27337757
GRCh38: 10:27048828-27048828
21 ANKRD26 NM_014915.3(ANKRD26):c.1754G>C (p.Arg585Thr) SNV Uncertain significance 877277 GRCh37: 10:27337790-27337790
GRCh38: 10:27048861-27048861
22 ANKRD26 NM_014915.3(ANKRD26):c.*1351G>T SNV Uncertain significance 877156 GRCh37: 10:27293168-27293168
GRCh38: 10:27004239-27004239
23 ANKRD26 NM_014915.3(ANKRD26):c.*1243A>G SNV Uncertain significance 877157 GRCh37: 10:27293276-27293276
GRCh38: 10:27004347-27004347
24 ANKRD26 NM_014915.3(ANKRD26):c.*1169C>T SNV Uncertain significance 878190 GRCh37: 10:27293350-27293350
GRCh38: 10:27004421-27004421
25 ANKRD26 NM_014915.3(ANKRD26):c.*1029G>A SNV Uncertain significance 878191 GRCh37: 10:27293490-27293490
GRCh38: 10:27004561-27004561
26 ANKRD26 NM_014915.3(ANKRD26):c.*595G>A SNV Uncertain significance 878192 GRCh37: 10:27293924-27293924
GRCh38: 10:27004995-27004995
27 ANKRD26 NM_014915.3(ANKRD26):c.3896C>A (p.Ala1299Asp) SNV Uncertain significance 878251 GRCh37: 10:27317857-27317857
GRCh38: 10:27028928-27028928
28 ANKRD26 NM_014915.3(ANKRD26):c.565G>A (p.Gly189Arg) SNV Uncertain significance 877328 GRCh37: 10:27381408-27381408
GRCh38: 10:27092479-27092479
29 ANKRD26 NM_014915.3(ANKRD26):c.1492-6A>G SNV Uncertain significance 878315 GRCh37: 10:27349352-27349352
GRCh38: 10:27060423-27060423
30 ANKRD26 NM_014915.3(ANKRD26):c.3218T>C (p.Leu1073Pro) SNV Uncertain significance 878852 GRCh37: 10:27324161-27324161
GRCh38: 10:27035232-27035232
31 ANKRD26 NM_014915.3(ANKRD26):c.3216A>G (p.Lys1072=) SNV Uncertain significance 878853 GRCh37: 10:27324163-27324163
GRCh38: 10:27035234-27035234
32 ANKRD26 NM_014915.3(ANKRD26):c.3053A>G (p.His1018Arg) SNV Uncertain significance 878854 GRCh37: 10:27324326-27324326
GRCh38: 10:27035397-27035397
33 ANKRD26 NM_014915.3(ANKRD26):c.426G>A (p.Ala142=) SNV Uncertain significance 878355 GRCh37: 10:27382383-27382383
GRCh38: 10:27093454-27093454
34 ANKRD26 NM_014915.3(ANKRD26):c.319A>G (p.Asn107Asp) SNV Uncertain significance 878356 GRCh37: 10:27382652-27382652
GRCh38: 10:27093723-27093723
35 ANKRD26 NM_014915.3(ANKRD26):c.1327G>A (p.Gly443Arg) SNV Uncertain significance 878896 GRCh37: 10:27352953-27352953
GRCh38: 10:27064024-27064024
36 MASTL NM_001172303.3(MASTL):c.867T>A (p.Asn289Lys) SNV Uncertain significance 587604 rs535159862 GRCh37: 10:27456086-27456086
GRCh38: 10:27167157-27167157
37 ANKRD26 NM_014915.2(ANKRD26):c.739A>T (p.Arg247Trp) SNV Uncertain significance 299758 rs765170468 GRCh37: 10:27371733-27371733
GRCh38: 10:27082804-27082804
38 ANKRD26 NM_014915.2(ANKRD26):c.*1174C>G SNV Uncertain significance 299713 rs886046938 GRCh37: 10:27293345-27293345
GRCh38: 10:27004416-27004416
39 ANKRD26 NM_014915.2(ANKRD26):c.1269+7T>A SNV Uncertain significance 299750 rs201014646 GRCh37: 10:27355409-27355409
GRCh38: 10:27066480-27066480
40 ANKRD26 NM_014915.2(ANKRD26):c.93G>A (p.Gly31=) SNV Uncertain significance 299765 rs746535031 GRCh37: 10:27389163-27389163
GRCh38: 10:27100234-27100234
41 ANKRD26 NM_014915.2(ANKRD26):c.-4G>A SNV Uncertain significance 299767 rs779013762 GRCh37: 10:27389259-27389259
GRCh38: 10:27100330-27100330
42 ANKRD26 NM_014915.2(ANKRD26):c.*530C>G SNV Uncertain significance 299721 rs886046941 GRCh37: 10:27293989-27293989
GRCh38: 10:27005060-27005060
43 ANKRD26 NM_014915.2(ANKRD26):c.-135A>C SNV Uncertain significance 299769 rs373811579 GRCh37: 10:27389390-27389390
GRCh38: 10:27100461-27100461
44 ANKRD26 NM_014915.2(ANKRD26):c.-172A>T SNV Uncertain significance 299771 rs886046951 GRCh37: 10:27389427-27389427
GRCh38: 10:27100498-27100498
45 ANKRD26 NM_014915.2(ANKRD26):c.4808C>G (p.Thr1603Ser) SNV Uncertain significance 299727 rs886046944 GRCh37: 10:27301956-27301956
GRCh38: 10:27013027-27013027
46 ANKRD26 NM_014915.2(ANKRD26):c.1176T>C (p.Tyr392=) SNV Uncertain significance 299751 rs368451975 GRCh37: 10:27356117-27356117
GRCh38: 10:27067188-27067188
47 ANKRD26 NM_014915.2(ANKRD26):c.1727del (p.Asp576fs) Deletion Uncertain significance 299744 rs886046946 GRCh37: 10:27337817-27337817
GRCh38: 10:27048888-27048888
48 ANKRD26 NM_014915.2(ANKRD26):c.789C>G (p.Asp263Glu) SNV Uncertain significance 299757 rs777702991 GRCh37: 10:27368042-27368042
GRCh38: 10:27079113-27079113
49 ANKRD26 NM_014915.2(ANKRD26):c.*142G>A SNV Uncertain significance 299723 rs886046942 GRCh37: 10:27294377-27294377
GRCh38: 10:27005448-27005448
50 ANKRD26 NM_014915.2(ANKRD26):c.3940G>A (p.Glu1314Lys) SNV Uncertain significance 299732 rs886046945 GRCh37: 10:27317813-27317813
GRCh38: 10:27028884-27028884

Expression for Thrombocytopenia 2

Search GEO for disease gene expression data for Thrombocytopenia 2.

Pathways for Thrombocytopenia 2

GO Terms for Thrombocytopenia 2

Cellular components related to Thrombocytopenia 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 centrosome GO:0005813 8.62 MASTL ANKRD26

Biological processes related to Thrombocytopenia 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of cell cycle GO:0051726 8.62 MECOM MASTL

Sources for Thrombocytopenia 2

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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