Was-Related Disorders disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: WSR001 MIFTS: 11	Was-Related Disorders
Genes Tissues Related diseases Publications Expand all tables

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Aliases & Classifications for Was-Related Disorders

MalaCards integrated aliases for Was-Related Disorders:

Name: Was-Related Disorders ²⁴

Characteristics:

GeneReviews:

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

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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 marrow and bone.

GeneReviews: NBK1178

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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
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:

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Symptoms & Phenotypes for Was-Related Disorders

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Drugs & Therapeutics for Was-Related Disorders

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

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Genetic Tests for Was-Related Disorders

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Anatomical Context for Was-Related Disorders

MalaCards organs/tissues related to Was-Related Disorders:

⁴⁰

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

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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. ²⁴	Chen N...Zhao XD	25877044	2015
2	Wiskott-Aldrich syndrome/X-linked thrombocytopenia in China: Clinical characteristic and genotype-phenotype correlation. ²⁴	Liu DW...Zhao XD	25931402	2015
3	In vivo reversion of an inherited mutation in a Chinese patient with Wiskott-Aldrich syndrome. ²⁴	Xie JW...Zhao XD	25862925	2015
4	Outcomes following gene therapy in patients with severe Wiskott-Aldrich syndrome. ²⁴	Hacein-Bey Abina S...Cavazzana M	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. ²⁴	Takimoto T...Hara T	25633059	2015
6	Wiskott-Aldrich syndrome: diagnosis, current management, and emerging treatments. ²⁴	Buchbinder D...Fillipovich AH	24817816	2014
7	Pathogenic mechanisms and clinical implications of congenital neutropenia syndromes. ²⁴	Hauck F...Klein C	24145314	2013
8	Combined de-novo mutation and non-random X-chromosome inactivation causing Wiskott-Aldrich syndrome in a female with thrombocytopenia. ²⁴	Boonyawat B...Dror Y	23943155	2013
9	Lentiviral hematopoietic stem cell gene therapy in patients with Wiskott-Aldrich syndrome. ²⁴	Aiuti A...Naldini L	23845947	2013
10	X-linked thrombocytopenia in a female with a complex familial pattern of X-chromosome inactivation. ²⁴	Daza-Cajigal V...Matamoros N	23689198	2013
11	Characteristics and outcome of early-onset, severe forms of Wiskott-Aldrich syndrome. ²⁴	Mahlaoui N...Fischer A	23264593	2013
12	Outcomes following hematopoietic cell transplantation for Wiskott-Aldrich syndrome. ²⁴	Shin CR...Filipovich AH	22426750	2012
13	Autoimmunity in wiskott-Aldrich syndrome: an unsolved enigma. ²⁴	Catucci M...Villa A	22826711	2012
14	A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP. ²⁴	Lanzi G...Giliani S	22231303	2012
15	Monozygotic twin pair showing discordant phenotype for X-linked thrombocytopenia and Wiskott-Aldrich syndrome: a role for epigenetics? ²⁴	Buchbinder D...Nugent D	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. ²⁴	Moratto D...Notarangelo LD	21659547	2011
17	Genetic etiologies of severe congenital neutropenia. ²⁴	Boztug K...Klein C	21206270	2011
18	Clinical spectrum, pathophysiology and treatment of the Wiskott-Aldrich syndrome. ²⁴	Albert MH...Ochs HD	21076297	2011
19	Stem-cell gene therapy for the Wiskott-Aldrich syndrome. ²⁴	Boztug K...Klein C	21067383	2010
20	X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options. ²⁴	Albert MH...Ochs HD	20173115	2010
21	Progress and prospects: gene therapy for inherited immunodeficiencies. ²⁴	Qasim W...Thrasher AJ	19776764	2009
22	G-CSF receptor (CSF3R) mutations in X-linked neutropenia evolving to acute myeloid leukemia or myelodysplasia. ²⁴	Beel K...Vandenberghe P	19794089	2009
23	Results and long-term outcome in 39 patients with Wiskott-Aldrich syndrome transplanted from HLA-matched and -mismatched donors. ²⁴	Friedrich W...Honig M	18846321	2009
24	Revertant somatic mosaicism in the Wiskott-Aldrich syndrome. ²⁴	Davis BR...Candotti F	19129986	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. ²⁴	Ozsahin H...Fischer A	17901250	2008
26	Detection of 28 novel mutations in the Wiskott-Aldrich syndrome and X-linked thrombocytopenia based on multiplex PCR. ²⁴	Proust A...Delaunay J	17400488	2007
27	Stem cell transplantation for the Wiskott-Aldrich syndrome: a single-center experience confirms efficacy of matched unrelated donor transplantation. ²⁴	Pai SY...Mazzolari E	17013426	2006
28	WIP and WASP play complementary roles in T cell homing and chemotaxis to SDF-1alpha. ²⁴	Gallego MD...Geha RS	16141245	2006
29	An electrostatic steering mechanism of Cdc42 recognition by Wiskott-Aldrich syndrome proteins. ²⁴	Hemsath L...Ahmadian MR	16246732	2005
30	Genotype-proteotype linkage in the Wiskott-Aldrich syndrome. ²⁴	Lutskiy MI...Remold-O'Donnell E	16002738	2005
31	WASP deficiency leads to global defects of directed leukocyte migration in vitro and in vivo. ²⁴	Snapper SB...Klein C	15774550	2005
32	Impaired dendritic-cell homing in vivo in the absence of Wiskott-Aldrich syndrome protein. ²⁴	de Noronha S...Thrasher AJ	15494425	2005
33	Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation. ²⁴	Jin Y...Ochs HD	15284122	2004
34	Regulation of WASP/WAVE proteins: making a long story short. ²⁴	Bompard G...Caron E	15452139	2004
35	Regulation of actin dynamics by WASP and WAVE family proteins. ²⁴	Stradal TE...Scita G	15183187	2004
36	Clinical course of patients with WASP gene mutations. ²⁴	Imai K...Nonoyama S	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. ²⁴	Badour K...Siminovitch KA	14707117	2004
38	WASP (Wiskott-Aldrich syndrome protein) gene mutations and phenotype. ²⁴	Imai K...Ochs HD	14612666	2003
39	An international study examining therapeutic options used in treatment of Wiskott-Aldrich syndrome. ²⁴	Conley ME...ESID	14697741	2003
40	Wiskott-Aldrich syndrome in a female with skewed X-chromosome inactivation. ²⁴	Andreu N...Fillat C	14636648	2003
41	Wiskott-Aldrich Syndrome: a model for defective actin reorganization, cell trafficking and synapse formation. ²⁴	Notarangelo LD...Ochs HD	14499269	2003
42	Autoimmunity in Wiskott-Aldrich syndrome. ²⁴	Schurman SH...Candotti F	12819473	2003
43	Autoimmunity in Wiskott-Aldrich syndrome: risk factors, clinical features, and outcome in a single-center cohort of 55 patients. ²⁴	Dupuis-Girod S...Fischer A	12728121	2003
44	Second-site mutation in the Wiskott-Aldrich syndrome (WAS) protein gene causes somatic mosaicism in two WAS siblings. ²⁴	Wada T...Candotti F	12727931	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. ²⁴	Klein C...Snapper SB	12433691	2003
46	Wiskott-Aldrich syndrome in a female. ²⁴	Lutskiy MI...Remold-O'Donnell E	12351383	2002
47	X-linked thrombocytopenia in a girl. ²⁴	Inoue H...Eguchi M	12199801	2002
48	Wiskott-Aldrich syndrome protein is required for NK cell cytotoxicity and colocalizes with actin to NK cell-activating immunologic synapses. ²⁴	Orange JS...Strominger JL	12177428	2002
49	Somatic mosaicism in Wiskott--Aldrich syndrome suggests in vivo reversion by a DNA slippage mechanism. ²⁴	Wada T...Candotti F	11447283	2001
50	Spontaneous in vivo reversion of an inherited mutation in the Wiskott-Aldrich syndrome. ²⁴	Ariga T...Sakiyama Y	11290809	2001

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Genes for Was-Related Disorders

Genes related to Was-Related Disorders (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	WAS	WASP Actin Nucleation Promoting Factor	Protein Coding	5.42	GeneCards inferred via : Publications (show sections)

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Variations for Was-Related Disorders

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Expression for Was-Related Disorders

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

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Pathways for Was-Related Disorders

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GO Terms for Was-Related Disorders

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