MCID: HRD112
MIFTS: 8

Hereditary Thrombocytopenia with Normal Platelets

Categories: Blood diseases, Rare diseases

Aliases & Classifications for Hereditary Thrombocytopenia with Normal Platelets

MalaCards integrated aliases for Hereditary Thrombocytopenia with Normal Platelets:

Name: Hereditary Thrombocytopenia with Normal Platelets 58

Characteristics:

Orphanet epidemiological data:

58
hereditary thrombocytopenia with normal platelets
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Age of onset: All ages;

Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

ICD10 via Orphanet 33 D69.4
Orphanet 58 ORPHA268322

Summaries for Hereditary Thrombocytopenia with Normal Platelets

MalaCards based summary : Hereditary Thrombocytopenia with Normal Platelets is related to platelet disorder, familial, with associated myeloid malignancy.

Related Diseases for Hereditary Thrombocytopenia with Normal Platelets

Diseases in the Autosomal Thrombocytopenia with Normal Platelets family:

Hereditary Thrombocytopenia with Normal Platelets

Diseases related to Hereditary Thrombocytopenia with Normal Platelets via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 platelet disorder, familial, with associated myeloid malignancy 11.6

Symptoms & Phenotypes for Hereditary Thrombocytopenia with Normal Platelets

Drugs & Therapeutics for Hereditary Thrombocytopenia with Normal Platelets

Search Clinical Trials , NIH Clinical Center for Hereditary Thrombocytopenia with Normal Platelets

Genetic Tests for Hereditary Thrombocytopenia with Normal Platelets

Anatomical Context for Hereditary Thrombocytopenia with Normal Platelets

Publications for Hereditary Thrombocytopenia with Normal Platelets

Articles related to Hereditary Thrombocytopenia with Normal Platelets:

(show all 19)
# Title Authors PMID Year
1
A novel CYCS mutation in the α-helix of the CYCS C-terminal domain causes non-syndromic thrombocytopenia. 6
30051457 2018
2
ANKRD26-Related Thrombocytopenia 6
29927566 2018
3
Deleterious mutation in the FYB gene is associated with congenital autosomal recessive small-platelet thrombocytopenia. 6
25876182 2015
4
Recessive thrombocytopenia likely due to a homozygous pathogenic variant in the FYB gene: case report. 6
25516138 2014
5
Mutations of cytochrome c identified in patients with thrombocytopenia THC4 affect both apoptosis and cellular bioenergetics. 6
24326104 2014
6
Thrombocytopenias due to gray platelet syndrome or THC2 mutations. 6
22102272 2011
7
Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2. 6
21211618 2011
8
A mutation in the acyl-coenzyme A binding domain-containing protein 5 gene (ACBD5 ) identified in autosomal dominant thrombocytopenia. 6
20626622 2010
9
In vivo inactivation of MASTL kinase results in thrombocytopenia. 6
19460416 2009
10
A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia. 6
18345000 2008
11
WAS-Related Disorders 6
20301357 2004
12
FLJ14813 missense mutation: a candidate for autosomal dominant thrombocytopenia on human chromosome 10. 6
12890928 2003
13
X-linked thrombocytopenia in a girl. 6
12199801 2002
14
Missense C168T in the Wiskott--Aldrich Syndrome protein gene is a common mutation in X-linked thrombocytopenia. 6
11167787 2001
15
Autosomal dominant thrombocytopenia: incomplete megakaryocyte differentiation and linkage to human chromosome 10. 6
10891439 2000
16
An autosomal dominant thrombocytopenia gene maps to chromosomal region 10p. 6
10521306 1999
17
Scanning of the Wiskott-Aldrich syndrome (WAS) gene: identification of 18 novel alterations including a possible mutation hotspot at Arg86 resulting in thrombocytopenia, a mild WAS phenotype. 6
8595430 1995
18
The mouse homolog of the Wiskott-Aldrich syndrome protein (WASP) gene is highly conserved and maps near the scurfy (sf) mutation on the X chromosome. 6
8666397 1995
19
X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene. 6
7795648 1995

Variations for Hereditary Thrombocytopenia with Normal Platelets

Expression for Hereditary Thrombocytopenia with Normal Platelets

Search GEO for disease gene expression data for Hereditary Thrombocytopenia with Normal Platelets.

Pathways for Hereditary Thrombocytopenia with Normal Platelets

GO Terms for Hereditary Thrombocytopenia with Normal Platelets

Sources for Hereditary Thrombocytopenia with Normal Platelets

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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