THC2
MCID: THR037
MIFTS: 28

Thrombocytopenia 2 (THC2)

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

Aliases & Classifications for Thrombocytopenia 2

MalaCards integrated aliases for Thrombocytopenia 2:

Name: Thrombocytopenia 2 58 54 76 30 13 6 74
Thc2 58 54 76
Thrombocytopenia, Autosomal Dominant, 2 58 76
Thrombocytopenia Autosomal Dominant 2 54 76
Thrombocytopenia, Type 2 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
thrombocytopenia 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 188000
MeSH 45 D013921
MedGen 43 C1861185
UMLS 74 C1861185

Summaries for Thrombocytopenia 2

OMIM : 58 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)

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, and related phenotypes are thrombocytopenia and bruising susceptibility

UniProtKB/Swiss-Prot : 76 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:

33
# Description HPO Frequency HPO Source Accession
1 thrombocytopenia 33 HP:0001873
2 bruising susceptibility 33 HP:0000978

Symptoms via clinical synopsis from OMIM:

58
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

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 30 ANKRD26

Anatomical Context for Thrombocytopenia 2

MalaCards organs/tissues related to Thrombocytopenia 2:

42
Bone Marrow

Publications for Thrombocytopenia 2

Articles related to Thrombocytopenia 2:

# Title Authors Year
1
A comparative prospective observational study of children and adults with immune thrombocytopenia: 2-year follow-up. ( 29516627 )
2018
2
Pressure-induced structural transformations and polymerization in ThC2. ( 28383571 )
2017
3
Theoretical study of the structure and bonding in ThC2 and UC2. ( 22191481 )
2012
4
Thrombocytopenias due to gray platelet syndrome or THC2 mutations. ( 22102272 )
2011
5
Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2. ( 21211618 )
2011
6
A mutation in the acyl-coenzyme A binding domain-containing protein 5 gene (ACBD5 ) identified in autosomal dominant thrombocytopenia. ( 20626622 )
2010
7
In vivo inactivation of MASTL kinase results in thrombocytopenia. ( 19460416 )
2009
8
FLJ14813 missense mutation: a candidate for autosomal dominant thrombocytopenia on human chromosome 10. ( 12890928 )
2003
9
Autosomal dominant thrombocytopenia: incomplete megakaryocyte differentiation and linkage to human chromosome 10. ( 10891439 )
2000
10
An autosomal dominant thrombocytopenia gene maps to chromosomal region 10p. ( 10521306 )
1999

Variations for Thrombocytopenia 2

ClinVar genetic disease variations for Thrombocytopenia 2:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 MASTL NM_001172303.2(MASTL): c.501G> C (p.Glu167Asp) single nucleotide variant Uncertain significance rs28941470 GRCh37 Chromosome 10, 27450059: 27450059
2 MASTL NM_001172303.2(MASTL): c.501G> C (p.Glu167Asp) single nucleotide variant Uncertain significance rs28941470 GRCh38 Chromosome 10, 27161130: 27161130
3 ANKRD26 NM_014915.2(ANKRD26): c.-134G> A single nucleotide variant Pathogenic rs863223318 GRCh37 Chromosome 10, 27389389: 27389389
4 ANKRD26 NM_014915.2(ANKRD26): c.-134G> A single nucleotide variant Pathogenic rs863223318 GRCh38 Chromosome 10, 27100460: 27100460
5 ANKRD26 ANKRD26, -127A-T single nucleotide variant Pathogenic
6 ANKRD26 ANKRD26, -128G-A single nucleotide variant Pathogenic
7 ANKRD26 NM_014915.2(ANKRD26): c.153C> G (p.His51Gln) single nucleotide variant Uncertain significance rs139049098 GRCh38 Chromosome 10, 27100174: 27100174
8 ANKRD26 NM_014915.2(ANKRD26): c.153C> G (p.His51Gln) single nucleotide variant Uncertain significance rs139049098 GRCh37 Chromosome 10, 27389103: 27389103
9 ANKRD26 NM_014915.2(ANKRD26): c.-119C> G single nucleotide variant Likely pathogenic rs1554800065 GRCh38 Chromosome 10, 27100445: 27100445
10 ANKRD26 NM_014915.2(ANKRD26): c.-119C> G single nucleotide variant Likely pathogenic rs1554800065 GRCh37 Chromosome 10, 27389374: 27389374
11 MASTL NM_032844.4(MASTL): c.867T> A (p.Asn289Lys) single nucleotide variant Uncertain significance GRCh38 Chromosome 10, 27167157: 27167157
12 MASTL NM_032844.4(MASTL): c.867T> A (p.Asn289Lys) single nucleotide variant Uncertain significance GRCh37 Chromosome 10, 27456086: 27456086

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 ANKRD26 MASTL

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 MASTL MECOM

Sources for Thrombocytopenia 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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