WAS2
MCID: WSK002
MIFTS: 24

Wiskott-Aldrich Syndrome 2 (WAS2)

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

Aliases & Classifications for Wiskott-Aldrich Syndrome 2

MalaCards integrated aliases for Wiskott-Aldrich Syndrome 2:

Name: Wiskott-Aldrich Syndrome 2 56 73 29 13 6 71
Wipf1 Deficiency 56 73
Was2 56 73
Wiskott-Aldrich Syndrome, Type 2 39

Characteristics:

HPO:

31
wiskott-aldrich syndrome 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 56 614493
MeSH 43 D014923
MedGen 41 C3281001
UMLS 71 C3281001

Summaries for Wiskott-Aldrich Syndrome 2

UniProtKB/Swiss-Prot : 73 Wiskott-Aldrich syndrome 2: An immunodeficiency disorder characterized by eczema, thrombocytopenia, recurrent infections, defective T-cell proliferation, and impaired natural killer cell function.

MalaCards based summary : Wiskott-Aldrich Syndrome 2, also known as wipf1 deficiency, is related to wiskott-aldrich syndrome. An important gene associated with Wiskott-Aldrich Syndrome 2 is WIPF1 (WAS/WASL Interacting Protein Family Member 1). Affiliated tissues include t cells, bone marrow and bone, and related phenotypes are thrombocytopenia and recurrent infections

More information from OMIM: 614493

Related Diseases for Wiskott-Aldrich Syndrome 2

Diseases in the Wiskott-Aldrich Syndrome family:

Wiskott-Aldrich Syndrome, Autosomal Dominant Form Wiskott-Aldrich Syndrome 2

Diseases related to Wiskott-Aldrich Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 wiskott-aldrich syndrome 10.2

Symptoms & Phenotypes for Wiskott-Aldrich Syndrome 2

Human phenotypes related to Wiskott-Aldrich Syndrome 2:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 thrombocytopenia 31 very rare (1%) HP:0001873
2 recurrent infections 31 very rare (1%) HP:0002719
3 eczema 31 very rare (1%) HP:0000964
4 decreased proportion of cd8-positive t cells 31 very rare (1%) HP:0005415
5 reduced natural killer cell activity 31 very rare (1%) HP:0012178
6 defective t cell proliferation 31 very rare (1%) HP:0030253

Clinical features from OMIM:

614493

Drugs & Therapeutics for Wiskott-Aldrich Syndrome 2

Search Clinical Trials , NIH Clinical Center for Wiskott-Aldrich Syndrome 2

Genetic Tests for Wiskott-Aldrich Syndrome 2

Genetic tests related to Wiskott-Aldrich Syndrome 2:

# Genetic test Affiliating Genes
1 Wiskott-Aldrich Syndrome 2 29 WIPF1

Anatomical Context for Wiskott-Aldrich Syndrome 2

MalaCards organs/tissues related to Wiskott-Aldrich Syndrome 2:

40
T Cells, Bone Marrow, Bone

Publications for Wiskott-Aldrich Syndrome 2

Articles related to Wiskott-Aldrich Syndrome 2:

# Title Authors PMID Year
1
A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP. 56 6
22231303 2012
2
Atypical Wiskott-Aldrich syndrome in a girl. 56
1515642 1992
3
Electronic structure and topological properties of centrosymmetric MoAs2/WAs2 from first principles. 61
28874735 2017
4
Allogeneic bone marrow transplantation in children from other than HLA-identical sibling donor. 61
1855074 1991
5
Two-colour flow cytometry study of lymphocyte subpopulations in patients with primary immunodeficiencies. 61
1717014 1991
6
[Wiskott-Aldrich syndrome. 2 familial cases]. 61
5142396 1971

Variations for Wiskott-Aldrich Syndrome 2

ClinVar genetic disease variations for Wiskott-Aldrich Syndrome 2:

6 (show all 21) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 WIPF1 NM_001077269.1(WIPF1):c.1301C>G (p.Ser434Ter)SNV Pathogenic 30266 2:175432630-175432630 2:174567902-174567902
2 WIPF1 NM_001077269.1(WIPF1):c.1037C>T (p.Pro346Leu)SNV Uncertain significance 472919 rs149434153 2:175436496-175436496 2:174571768-174571768
3 WIPF1 NM_001077269.1(WIPF1):c.1085G>A (p.Ser362Asn)SNV Uncertain significance 540144 rs779795011 2:175436448-175436448 2:174571720-174571720
4 WIPF1 NM_001077269.1(WIPF1):c.235G>A (p.Gly79Arg)SNV Uncertain significance 540143 rs531744802 2:175440055-175440055 2:174575327-174575327
5 WIPF1 NM_001077269.1(WIPF1):c.860C>T (p.Pro287Leu)SNV Uncertain significance 570714 2:175436673-175436673 2:174571945-174571945
6 WIPF1 NM_001077269.1(WIPF1):c.100A>G (p.Asn34Asp)SNV Uncertain significance 580567 2:175446119-175446119 2:174581391-174581391
7 WIPF1 NM_003387.5(WIPF1):c.851_853CTC[3] (p.Pro287del)short repeat Uncertain significance 658041 2:175436671-175436673 2:174571944-174571946
8 WIPF1 NM_001077269.1(WIPF1):c.776C>T (p.Ala259Val)SNV Uncertain significance 644656 2:175436757-175436757 2:174572029-174572029
9 WIPF1 NM_001077269.1(WIPF1):c.712T>C (p.Ser238Pro)SNV Uncertain significance 661373 2:175436821-175436821 2:174572093-174572093
10 WIPF1 NM_001077269.1(WIPF1):c.473G>A (p.Arg158Lys)SNV Uncertain significance 661880 2:175437060-175437060 2:174572332-174572332
11 WIPF1 NC_000002.11:g.(?_175427255)_(175450321_?)dupduplication Uncertain significance 646952 2:175427255-175450321 2:174562527-174585593
12 WIPF1 NM_001077269.1(WIPF1):c.1084A>G (p.Ser362Gly)SNV Uncertain significance 540142 rs147847123 2:175436449-175436449 2:174571721-174571721
13 WIPF1 NM_001077269.1(WIPF1):c.851_853CTC[5] (p.Pro287dup)short repeat Likely benign 540147 rs556678311 2:175436671-175436673 2:174571943-174571945
14 WIPF1 NM_001077269.1(WIPF1):c.936T>G (p.Pro312=)SNV Likely benign 540146 rs1040586347 2:175436597-175436597 2:174571869-174571869
15 WIPF1 NM_001077269.1(WIPF1):c.1380C>T (p.Ser460=)SNV Likely benign 540145 rs753915750 2:175431874-175431874 2:174567146-174567146
16 WIPF1 NM_001077269.1(WIPF1):c.1446C>T (p.Asn482=)SNV Benign/Likely benign 403609 rs116757787 2:175431808-175431808 2:174567080-174567080
17 WIPF1 NM_001077269.1(WIPF1):c.1413G>A (p.Thr471=)SNV Benign 472920 rs149092210 2:175431841-175431841 2:174567113-174567113
18 WIPF1 NM_001077269.1(WIPF1):c.78T>C (p.Asn26=)SNV Benign 472923 rs35923393 2:175446141-175446141 2:174581413-174581413
19 WIPF1 NM_001077269.1(WIPF1):c.339C>G (p.Ser113=)SNV Benign 472921 rs76308107 2:175439951-175439951 2:174575223-174575223
20 WIPF1 NM_001077269.1(WIPF1):c.42G>A (p.Thr14=)SNV Benign 472922 rs111761533 2:175450260-175450260 2:174585532-174585532
21 WIPF1 NM_001077269.1(WIPF1):c.1296A>G (p.Pro432=)SNV Benign 540148 rs76731102 2:175432635-175432635 2:174567907-174567907

Expression for Wiskott-Aldrich Syndrome 2

Search GEO for disease gene expression data for Wiskott-Aldrich Syndrome 2.

Pathways for Wiskott-Aldrich Syndrome 2

GO Terms for Wiskott-Aldrich Syndrome 2

Sources for Wiskott-Aldrich Syndrome 2

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