THC2
MCID: THR037
MIFTS: 32

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 57 53 75 29 13 6 73
Thc2 57 53 75
Thrombocytopenia, Autosomal Dominant, 2 57 75
Thrombocytopenia Autosomal Dominant 2 53 75
Thrombocytopenia, Type 2 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
thrombocytopenia 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 188000
MedGen 42 C1861185
MeSH 44 D013921
UMLS 73 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)

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 and bone marrow, and related phenotypes are thrombocytopenia and bruising susceptibility

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Thrombocytopenia 2:

32
# Description HPO Frequency HPO Source Accession
1 thrombocytopenia 32 HP:0001873
2 bruising susceptibility 32 HP:0000978

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:

41
Bone, 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

Variations for Thrombocytopenia 2

ClinVar genetic disease variations for Thrombocytopenia 2:

6
# 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.-119C> G single nucleotide variant Likely pathogenic GRCh38 Chromosome 10, 27100445: 27100445
8 ANKRD26 NM_014915.2(ANKRD26): c.-119C> G single nucleotide variant Likely pathogenic GRCh37 Chromosome 10, 27389374: 27389374

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 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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