THC5
MCID: THR102
MIFTS: 22

Thrombocytopenia 5 (THC5)

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

Aliases & Classifications for Thrombocytopenia 5

MalaCards integrated aliases for Thrombocytopenia 5:

Name: Thrombocytopenia 5 57 75 29 6 73
Thrombocytopenia 5 with Increased Susceptibility to Malignancy 57 75
Thrombocytopenia, Autosomal Dominant, 5 57 75
Thc5 57 75
Thrombocytopenia 5 with Increased Malignancy 57
Thrombocytopenia, Type 5 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset of thrombocytopenia in early childhood
onset of malignancy can occur throughout life


HPO:

32
thrombocytopenia 5:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Thrombocytopenia 5

OMIM : 57 Thrombocytopenia-5 is an autosomal dominant disorder characterized by a decreased number of platelets and a bleeding tendency. Affected individuals have an increased susceptibility to the development of hematologic malignancies, and possibly to solid neoplasms. Thrombocytopenia is usually apparent in early childhood, whereas the development of malignancy can occur throughout life (summary by Zhang et al., 2015). For a discussion of genetic heterogeneity of thrombocytopenia, see 313900. (616216)

MalaCards based summary : Thrombocytopenia 5, is also known as thrombocytopenia 5 with increased susceptibility to malignancy, and has symptoms including petechiae of skin An important gene associated with Thrombocytopenia 5 is ETV6 (ETS Variant 6). The drugs Dacarbazine and Temozolomide have been mentioned in the context of this disorder. Affiliated tissues include skin and bone, and related phenotypes are anemia and thrombocytopenia

UniProtKB/Swiss-Prot : 75 Thrombocytopenia 5: 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. THC5 is an autosomal dominant disorder, associated with an increased susceptibility to the development of hematologic and solid malignancies.

Related Diseases for Thrombocytopenia 5

Symptoms & Phenotypes for Thrombocytopenia 5

Symptoms via clinical synopsis from OMIM:

57
Hematology:
thrombocytopenia
anemia (in some patients)
neutropenia (in some patients)

Skin Nails Hair Skin:
petechiae
easy bruising

Head And Neck Nose:
epistaxis

Neoplasia:
increased susceptibility to hematologic malignancies


Clinical features from OMIM:

616216

Human phenotypes related to Thrombocytopenia 5:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 anemia 32 occasional (7.5%) HP:0001903
2 thrombocytopenia 32 HP:0001873
3 epistaxis 32 HP:0000421
4 neutropenia 32 occasional (7.5%) HP:0001875
5 bruising susceptibility 32 HP:0000978
6 petechiae 32 HP:0000967

UMLS symptoms related to Thrombocytopenia 5:


petechiae of skin

Drugs & Therapeutics for Thrombocytopenia 5

Drugs for Thrombocytopenia 5 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dacarbazine Approved, Investigational Phase 1, Phase 2 4342-03-4 5351166
2
Temozolomide Approved, Investigational Phase 1, Phase 2 85622-93-1 5394
3 Olive Phase 1, Phase 2
4 Alkylating Agents Phase 1, Phase 2
5 Antineoplastic Agents, Alkylating Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Combined THC and CBD Drops for Treatment of Crohn's Disease Unknown status NCT01826188 Phase 1, Phase 2 THC 5 mg/ml and CBD 50 mg/ml.
2 Cannabinoids in PLWHIV on Effective ART Not yet recruiting NCT03550352 Phase 2 Low CBD dose TN-CT11LM oral capsules(THC2.5 mg/CBD2.5 mg);High CBD dose TN-TC19LM oral capsules (THC 5 mg / CBD 45 mg)
3 TN-TC11G (THC+CBD) Combination With Temozolomide and Radiotherapy in Patients With Newly-diagnosed Glioblastoma Not yet recruiting NCT03529448 Phase 1, Phase 2 TN-TC11G;Temozolomide Oral Product

Search NIH Clinical Center for Thrombocytopenia 5

Genetic Tests for Thrombocytopenia 5

Genetic tests related to Thrombocytopenia 5:

# Genetic test Affiliating Genes
1 Thrombocytopenia 5 29 ETV6

Anatomical Context for Thrombocytopenia 5

MalaCards organs/tissues related to Thrombocytopenia 5:

41
Skin, Bone

Publications for Thrombocytopenia 5

Variations for Thrombocytopenia 5

UniProtKB/Swiss-Prot genetic disease variations for Thrombocytopenia 5:

75
# Symbol AA change Variation ID SNP ID
1 ETV6 p.Pro214Leu VAR_073322 rs724159947
2 ETV6 p.Arg369Gln VAR_073323 rs724159946
3 ETV6 p.Arg399Cys VAR_073324 rs724159945

ClinVar genetic disease variations for Thrombocytopenia 5:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ETV6 NM_001987.4(ETV6): c.641C> T (p.Pro214Leu) single nucleotide variant Pathogenic/Likely pathogenic rs724159947 GRCh38 Chromosome 12, 11869601: 11869601
2 ETV6 NM_001987.4(ETV6): c.641C> T (p.Pro214Leu) single nucleotide variant Pathogenic/Likely pathogenic rs724159947 GRCh37 Chromosome 12, 12022535: 12022535
3 ETV6 NM_001987.4(ETV6): c.1106G> A (p.Arg369Gln) single nucleotide variant Pathogenic rs724159946 GRCh38 Chromosome 12, 11884541: 11884541
4 ETV6 NM_001987.4(ETV6): c.1106G> A (p.Arg369Gln) single nucleotide variant Pathogenic rs724159946 GRCh37 Chromosome 12, 12037475: 12037475
5 ETV6 NM_001987.4(ETV6): c.1195C> T (p.Arg399Cys) single nucleotide variant Pathogenic rs724159945 GRCh37 Chromosome 12, 12038902: 12038902
6 ETV6 NM_001987.4(ETV6): c.1195C> T (p.Arg399Cys) single nucleotide variant Pathogenic rs724159945 GRCh38 Chromosome 12, 11885968: 11885968
7 ETV6 NM_001987.4(ETV6): c.1252A> G (p.Arg418Gly) single nucleotide variant Pathogenic rs786205226 GRCh37 Chromosome 12, 12038959: 12038959
8 ETV6 NM_001987.4(ETV6): c.1252A> G (p.Arg418Gly) single nucleotide variant Pathogenic rs786205226 GRCh38 Chromosome 12, 11886025: 11886025
9 ETV6 NM_001987.4(ETV6): c.614delT (p.Leu205Argfs) deletion Pathogenic GRCh38 Chromosome 12, 11869574: 11869574
10 ETV6 NM_001987.4(ETV6): c.614delT (p.Leu205Argfs) deletion Pathogenic GRCh37 Chromosome 12, 12022508: 12022508

Expression for Thrombocytopenia 5

Search GEO for disease gene expression data for Thrombocytopenia 5.

Pathways for Thrombocytopenia 5

GO Terms for Thrombocytopenia 5

Sources for Thrombocytopenia 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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