MCID: WSR001
MIFTS: 12

Was-Related Disorders

Aliases & Classifications for Was-Related Disorders

MalaCards integrated aliases for Was-Related Disorders:

Name: Was-Related Disorders 24

Characteristics:

GeneReviews:

24
Penetrance Penetrance is complete in males with a was pathogenic variant.

Summaries for Was-Related Disorders

MalaCards based summary : Was-Related Disorders is related to wiskott-aldrich syndrome and autoimmune disease. An important gene associated with Was-Related Disorders is WAS (WASP Actin Nucleation Promoting Factor). Affiliated tissues include t cells, bone and bone marrow.

GeneReviews: NBK1178

Related Diseases for Was-Related Disorders

Diseases related to Was-Related Disorders via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 wiskott-aldrich syndrome 11.5
2 autoimmune disease 9.8
3 neutropenia, severe congenital, x-linked 9.8
4 thrombocytopenia 1 9.8
5 severe congenital neutropenia 9.8
6 neutropenia 9.8
7 thrombocytopenia 9.8
8 dermatitis 9.8
9 purpura 9.8
10 hemolytic anemia 9.8
11 hereditary thrombocytopenia with normal platelets 9.8

Graphical network of the top 20 diseases related to Was-Related Disorders:



Diseases related to Was-Related Disorders

Symptoms & Phenotypes for Was-Related Disorders

Drugs & Therapeutics for Was-Related Disorders

Search Clinical Trials , NIH Clinical Center for Was-Related Disorders

Genetic Tests for Was-Related Disorders

Anatomical Context for Was-Related Disorders

MalaCards organs/tissues related to Was-Related Disorders:

41
T Cells, Bone, Bone Marrow, Myeloid, Nk Cells

Publications for Was-Related Disorders

Articles related to Was-Related Disorders:

(show top 50) (show all 66)
# Title Authors PMID Year
1
The clinical features of autoimmunity in 53 patients with Wiskott-Aldrich syndrome in China: a single-center study. 4
25877044 2015
2
Wiskott-Aldrich syndrome/X-linked thrombocytopenia in China: Clinical characteristic and genotype-phenotype correlation. 4
25931402 2015
3
In vivo reversion of an inherited mutation in a Chinese patient with Wiskott-Aldrich syndrome. 4
25862925 2015
4
Outcomes following gene therapy in patients with severe Wiskott-Aldrich syndrome. 4
25898053 2015
5
Wiskott-Aldrich syndrome in a girl caused by heterozygous WASP mutation and extremely skewed X-chromosome inactivation: a novel association with maternal uniparental isodisomy 6. 4
25633059 2015
6
Wiskott-Aldrich syndrome: diagnosis, current management, and emerging treatments. 4
24817816 2014
7
Pathogenic mechanisms and clinical implications of congenital neutropenia syndromes. 4
24145314 2013
8
Combined de-novo mutation and non-random X-chromosome inactivation causing Wiskott-Aldrich syndrome in a female with thrombocytopenia. 4
23943155 2013
9
X-linked thrombocytopenia in a female with a complex familial pattern of X-chromosome inactivation. 4
23689198 2013
10
Lentiviral hematopoietic stem cell gene therapy in patients with Wiskott-Aldrich syndrome. 4
23845947 2013
11
Characteristics and outcome of early-onset, severe forms of Wiskott-Aldrich syndrome. 4
23264593 2013
12
Outcomes following hematopoietic cell transplantation for Wiskott-Aldrich syndrome. 4
22426750 2012
13
A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP. 4
22231303 2012
14
Autoimmunity in wiskott-Aldrich syndrome: an unsolved enigma. 4
22826711 2012
15
Monozygotic twin pair showing discordant phenotype for X-linked thrombocytopenia and Wiskott-Aldrich syndrome: a role for epigenetics? 4
21710275 2011
16
Long-term outcome and lineage-specific chimerism in 194 patients with Wiskott-Aldrich syndrome treated by hematopoietic cell transplantation in the period 1980-2009: an international collaborative study. 4
21659547 2011
17
Genetic etiologies of severe congenital neutropenia. 4
21206270 2011
18
Clinical spectrum, pathophysiology and treatment of the Wiskott-Aldrich syndrome. 4
21076297 2011
19
Stem-cell gene therapy for the Wiskott-Aldrich syndrome. 4
21067383 2010
20
X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options. 4
20173115 2010
21
Progress and prospects: gene therapy for inherited immunodeficiencies. 4
19776764 2009
22
G-CSF receptor (CSF3R) mutations in X-linked neutropenia evolving to acute myeloid leukemia or myelodysplasia. 4
19794089 2009
23
Revertant somatic mosaicism in the Wiskott-Aldrich syndrome. 4
19129986 2009
24
Results and long-term outcome in 39 patients with Wiskott-Aldrich syndrome transplanted from HLA-matched and -mismatched donors. 4
18846321 2009
25
Long-term outcome following hematopoietic stem-cell transplantation in Wiskott-Aldrich syndrome: collaborative study of the European Society for Immunodeficiencies and European Group for Blood and Marrow Transplantation. 4
17901250 2008
26
Detection of 28 novel mutations in the Wiskott-Aldrich syndrome and X-linked thrombocytopenia based on multiplex PCR. 4
17400488 2007
27
Stem cell transplantation for the Wiskott-Aldrich syndrome: a single-center experience confirms efficacy of matched unrelated donor transplantation. 4
17013426 2006
28
WIP and WASP play complementary roles in T cell homing and chemotaxis to SDF-1alpha. 4
16141245 2006
29
An electrostatic steering mechanism of Cdc42 recognition by Wiskott-Aldrich syndrome proteins. 4
16246732 2005
30
Genotype-proteotype linkage in the Wiskott-Aldrich syndrome. 4
16002738 2005
31
WASP deficiency leads to global defects of directed leukocyte migration in vitro and in vivo. 4
15774550 2005
32
Impaired dendritic-cell homing in vivo in the absence of Wiskott-Aldrich syndrome protein. 4
15494425 2005
33
Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation. 4
15284122 2004
34
Regulation of WASP/WAVE proteins: making a long story short. 4
15452139 2004
35
Regulation of actin dynamics by WASP and WAVE family proteins. 4
15183187 2004
36
Clinical course of patients with WASP gene mutations. 4
12969986 2004
37
Fyn and PTP-PEST-mediated regulation of Wiskott-Aldrich syndrome protein (WASp) tyrosine phosphorylation is required for coupling T cell antigen receptor engagement to WASp effector function and T cell activation. 4
14707117 2004
38
WASP (Wiskott-Aldrich syndrome protein) gene mutations and phenotype. 4
14612666 2003
39
An international study examining therapeutic options used in treatment of Wiskott-Aldrich syndrome. 4
14697741 2003
40
Wiskott-Aldrich syndrome in a female with skewed X-chromosome inactivation. 4
14636648 2003
41
Wiskott-Aldrich Syndrome: a model for defective actin reorganization, cell trafficking and synapse formation. 4
14499269 2003
42
Autoimmunity in Wiskott-Aldrich syndrome. 4
12819473 2003
43
Second-site mutation in the Wiskott-Aldrich syndrome (WAS) protein gene causes somatic mosaicism in two WAS siblings. 4
12727931 2003
44
Autoimmunity in Wiskott-Aldrich syndrome: risk factors, clinical features, and outcome in a single-center cohort of 55 patients. 4
12728121 2003
45
Gene therapy for Wiskott-Aldrich syndrome: rescue of T-cell signaling and amelioration of colitis upon transplantation of retrovirally transduced hematopoietic stem cells in mice. 4
12433691 2003
46
Wiskott-Aldrich syndrome in a female. 4
12351383 2002
47
X-linked thrombocytopenia in a girl. 4
12199801 2002
48
Wiskott-Aldrich syndrome protein is required for NK cell cytotoxicity and colocalizes with actin to NK cell-activating immunologic synapses. 4
12177428 2002
49
Somatic mosaicism in Wiskott--Aldrich syndrome suggests in vivo reversion by a DNA slippage mechanism. 4
11447283 2001
50
Spontaneous in vivo reversion of an inherited mutation in the Wiskott-Aldrich syndrome. 4
11290809 2001

Variations for Was-Related Disorders

Expression for Was-Related Disorders

Search GEO for disease gene expression data for Was-Related Disorders.

Pathways for Was-Related Disorders

GO Terms for Was-Related Disorders

Sources for Was-Related Disorders

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....