WAS2
MCID: WSK002
MIFTS: 29

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 57 72 29 13 6 70
Wipf1 Deficiency 57 72
Was2 57 72
Wiskott-Aldrich Syndrome, Type 2 39
Wip Deficiency 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
early death (in some patients)
hematopoietic stem cell transplantation is curative


HPO:

31
wiskott-aldrich syndrome 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 614493
MeSH 44 D014923
MedGen 41 C3281001
UMLS 70 C3281001

Summaries for Wiskott-Aldrich Syndrome 2

OMIM® : 57 Wiskott-Aldrich syndrome-2 (WAS2) is an autosomal recessive immunologic disorder characterized by onset of recurrent infections in infancy. Other features include thrombocytopenia with normal platelet volume and eczema. Laboratory studies show decreased CD8+ T cells, variably increased Ig, particularly IgE, low B cells, aberrant function of T and NK cells, and impaired T-cell migration. The cellular abnormalities are thought to result from defective F-actin polymerization. Death in early childhood may occur; hematopoietic stem cell transplantation is curative (summary by Lanzi et al., 2012). For a discussion of genetic heterogeneity of Wiskott-Aldrich syndrome, see WAS (301000). (614493) (Updated 20-May-2021)

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

UniProtKB/Swiss-Prot : 72 Wiskott-Aldrich syndrome 2: An immunodeficiency disorder characterized by eczema, thrombocytopenia, recurrent infections, defective T-cell proliferation, and impaired natural killer cell function.

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 10.1
2 combined immunodeficiency 9.9
3 dermatitis 9.9

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 eczema 31 very rare (1%) HP:0000964
3 recurrent infections 31 very rare (1%) HP:0002719
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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Immunology:
immunodeficiency
recurrent infections
bacterial and viral infections
decreased t cells, particularly cd8+
dysfunctional t cells
more
Head And Neck Ears:
otitis media

Respiratory:
pneumonia, recurrent
pneumonitis

Hematology:
thrombocytopenia
normal platelet volume

Abdomen Gastrointestinal:
gastrointestinal bleeding
diarrhea, chronic

Head And Neck Mouth:
ulcerative mucosal lesions

Clinical features from OMIM®:

614493 (Updated 20-May-2021)

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, Nk Cells, B Cells, Bone Marrow, Ovary

Publications for Wiskott-Aldrich Syndrome 2

Articles related to Wiskott-Aldrich Syndrome 2:

# Title Authors PMID Year
1
Hematopoietic stem cell transplantation corrects WIP deficiency. 6 57
27742395 2017
2
A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP. 6 57
22231303 2012
3
Atypical Wiskott-Aldrich syndrome in a girl. 57
1515642 1992
4
Letrozole and human menopausal gonadotropin for ovulation induction in clomiphene resistance polycystic ovary syndrome patients: A randomized controlled study. 61
31977842 2020
5
[Material properties and tensile strength prediction model of traditional Chinese medicine tablets based on PCA-RBF neural network]. 61
32237385 2019
6
Electronic structure and topological properties of centrosymmetric MoAs2/WAs2 from first principles. 61
28874735 2017
7
Allogeneic bone marrow transplantation in children from other than HLA-identical sibling donor. 61
1855074 1991
8
Two-colour flow cytometry study of lymphocyte subpopulations in patients with primary immunodeficiencies. 61
1717014 1991
9
[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 top 50) (show all 84)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 WIPF1 NM_001077269.1(WIPF1):c.1301C>G (p.Ser434Ter) SNV Pathogenic 30266 rs1574785867 GRCh37: 2:175432630-175432630
GRCh38: 2:174567902-174567902
2 WIPF1 NM_001375834.1(WIPF1):c.709C>T (p.Gln237Ter) SNV Pathogenic 976496 GRCh37: 2:175436824-175436824
GRCh38: 2:174572096-174572096
3 WIPF1 NM_001375834.1(WIPF1):c.1006C>T (p.Gln336Ter) SNV Pathogenic 1033246 GRCh37: 2:175436527-175436527
GRCh38: 2:174571799-174571799
4 WIPF1 NM_001375834.1(WIPF1):c.1100C>T (p.Pro367Leu) SNV Uncertain significance 1038152 GRCh37: 2:175436433-175436433
GRCh38: 2:174571705-174571705
5 WIPF1 NM_001375834.1(WIPF1):c.1233G>T (p.Arg411Ser) SNV Uncertain significance 1041875 GRCh37: 2:175432698-175432698
GRCh38: 2:174567970-174567970
6 WIPF1 NM_001375834.1(WIPF1):c.509C>G (p.Pro170Arg) SNV Uncertain significance 1041974 GRCh37: 2:175437024-175437024
GRCh38: 2:174572296-174572296
7 WIPF1 NM_001077269.1(WIPF1):c.51G>A (p.Leu17=) SNV Uncertain significance 291203 rs535169609 GRCh37: 2:175450251-175450251
GRCh38: 2:174585523-174585523
8 WIPF1 NM_001375834.1(WIPF1):c.26C>T (p.Pro9Leu) SNV Uncertain significance 1054457 GRCh37: 2:175450276-175450276
GRCh38: 2:174585548-174585548
9 WIPF1 NM_001375834.1(WIPF1):c.1481G>A (p.Gly494Asp) SNV Uncertain significance 1054813 GRCh37: 2:175427306-175427306
GRCh38: 2:174562578-174562578
10 WIPF1 NM_001375834.1(WIPF1):c.707G>C (p.Arg236Pro) SNV Uncertain significance 1057935 GRCh37: 2:175436826-175436826
GRCh38: 2:174572098-174572098
11 WIPF1 NM_001375834.1(WIPF1):c.595C>T (p.His199Tyr) SNV Uncertain significance 1059191 GRCh37: 2:175436938-175436938
GRCh38: 2:174572210-174572210
12 WIPF1 NM_001375834.1(WIPF1):c.668C>G (p.Pro223Arg) SNV Uncertain significance 1059501 GRCh37: 2:175436865-175436865
GRCh38: 2:174572137-174572137
13 WIPF1 NM_001375834.1(WIPF1):c.601C>T (p.Arg201Trp) SNV Uncertain significance 1062526 GRCh37: 2:175436932-175436932
GRCh38: 2:174572204-174572204
14 WIPF1 NM_001375834.1(WIPF1):c.1177C>T (p.Arg393Trp) SNV Uncertain significance 1063135 GRCh37: 2:175432754-175432754
GRCh38: 2:174568026-174568026
15 WIPF1 NM_001375834.1(WIPF1):c.811G>C (p.Val271Leu) SNV Uncertain significance 1064238 GRCh37: 2:175436722-175436722
GRCh38: 2:174571994-174571994
16 WIPF1 NM_001375834.1(WIPF1):c.1094C>T (p.Pro365Leu) SNV Uncertain significance 1051683 GRCh37: 2:175436439-175436439
GRCh38: 2:174571711-174571711
17 WIPF1 NM_001375834.1(WIPF1):c.430C>A (p.Pro144Thr) SNV Uncertain significance 856531 GRCh37: 2:175437103-175437103
GRCh38: 2:174572375-174572375
18 WIPF1 NC_000002.11:g.(?_175427255)_(175450321_?)dup Duplication Uncertain significance 646952 GRCh37: 2:175427255-175450321
GRCh38: 2:174562527-174585593
19 WIPF1 NM_001375834.1(WIPF1):c.1162A>C (p.Asn388His) SNV Uncertain significance 973616 GRCh37: 2:175432769-175432769
GRCh38: 2:174568041-174568041
20 WIPF1 NM_001375834.1(WIPF1):c.979G>A (p.Gly327Ser) SNV Uncertain significance 1002230 GRCh37: 2:175436554-175436554
GRCh38: 2:174571826-174571826
21 WIPF1 NM_001375834.1(WIPF1):c.413C>T (p.Ala138Val) SNV Uncertain significance 1004746 GRCh37: 2:175437120-175437120
GRCh38: 2:174572392-174572392
22 WIPF1 NM_001375834.1(WIPF1):c.1078C>T (p.Pro360Ser) SNV Uncertain significance 1004966 GRCh37: 2:175436455-175436455
GRCh38: 2:174571727-174571727
23 WIPF1 NM_001375834.1(WIPF1):c.61G>A (p.Glu21Lys) SNV Uncertain significance 1006773 GRCh37: 2:175446158-175446158
GRCh38: 2:174581430-174581430
24 WIPF1 NM_001375834.1(WIPF1):c.1468C>T (p.Arg490Ter) SNV Uncertain significance 1006851 GRCh37: 2:175427319-175427319
GRCh38: 2:174562591-174562591
25 WIPF1 NM_001375834.1(WIPF1):c.393G>A (p.Pro131=) SNV Uncertain significance 1016418 GRCh37: 2:175437140-175437140
GRCh38: 2:174572412-174572412
26 WIPF1 NM_001375834.1(WIPF1):c.419C>T (p.Pro140Leu) SNV Uncertain significance 1023025 GRCh37: 2:175437114-175437114
GRCh38: 2:174572386-174572386
27 WIPF1 NM_001375834.1(WIPF1):c.698G>T (p.Gly233Val) SNV Uncertain significance 1024739 GRCh37: 2:175436835-175436835
GRCh38: 2:174572107-174572107
28 WIPF1 NM_001077269.1(WIPF1):c.1084A>G (p.Ser362Gly) SNV Uncertain significance 540142 rs147847123 GRCh37: 2:175436449-175436449
GRCh38: 2:174571721-174571721
29 WIPF1 NM_001077269.1(WIPF1):c.235G>A (p.Gly79Arg) SNV Uncertain significance 540143 rs531744802 GRCh37: 2:175440055-175440055
GRCh38: 2:174575327-174575327
30 WIPF1 NM_001077269.1(WIPF1):c.1085G>A (p.Ser362Asn) SNV Uncertain significance 540144 rs779795011 GRCh37: 2:175436448-175436448
GRCh38: 2:174571720-174571720
31 WIPF1 NM_001077269.1(WIPF1):c.860C>T (p.Pro287Leu) SNV Uncertain significance 570714 rs891642872 GRCh37: 2:175436673-175436673
GRCh38: 2:174571945-174571945
32 WIPF1 NM_001077269.1(WIPF1):c.100A>G (p.Asn34Asp) SNV Uncertain significance 580567 rs373043385 GRCh37: 2:175446119-175446119
GRCh38: 2:174581391-174581391
33 WIPF1 NM_001077269.1(WIPF1):c.776C>T (p.Ala259Val) SNV Uncertain significance 644656 rs139003789 GRCh37: 2:175436757-175436757
GRCh38: 2:174572029-174572029
34 WIPF1 NM_001077269.1(WIPF1):c.860_862del Microsatellite Uncertain significance 658041 rs556678311 GRCh37: 2:175436671-175436673
GRCh38: 2:174571943-174571945
35 WIPF1 NM_001077269.1(WIPF1):c.712T>C (p.Ser238Pro) SNV Uncertain significance 661373 rs1185793589 GRCh37: 2:175436821-175436821
GRCh38: 2:174572093-174572093
36 WIPF1 NM_001077269.1(WIPF1):c.473G>A (p.Arg158Lys) SNV Uncertain significance 661880 rs148175242 GRCh37: 2:175437060-175437060
GRCh38: 2:174572332-174572332
37 WIPF1 NM_001375834.1(WIPF1):c.401G>A (p.Arg134Lys) SNV Uncertain significance 834134 GRCh37: 2:175437132-175437132
GRCh38: 2:174572404-174572404
38 WIPF1 NM_001375834.1(WIPF1):c.255_269del (p.Gly86_Gly90del) Deletion Uncertain significance 835892 GRCh37: 2:175440021-175440035
GRCh38: 2:174575293-174575307
39 WIPF1 NM_001375834.1(WIPF1):c.848C>G (p.Pro283Arg) SNV Uncertain significance 844957 GRCh37: 2:175436685-175436685
GRCh38: 2:174571957-174571957
40 WIPF1 NM_001375834.1(WIPF1):c.122G>A (p.Ser41Asn) SNV Uncertain significance 846396 GRCh37: 2:175446097-175446097
GRCh38: 2:174581369-174581369
41 WIPF1 NM_001375834.1(WIPF1):c.232G>A (p.Gly78Ser) SNV Uncertain significance 849873 GRCh37: 2:175440058-175440058
GRCh38: 2:174575330-174575330
42 WIPF1 NM_001375834.1(WIPF1):c.76A>T (p.Asn26Tyr) SNV Uncertain significance 851166 GRCh37: 2:175446143-175446143
GRCh38: 2:174581415-174581415
43 WIPF1 NM_001375834.1(WIPF1):c.231C>T (p.Gly77=) SNV Uncertain significance 853886 GRCh37: 2:175440059-175440059
GRCh38: 2:174575331-174575331
44 WIPF1 NM_001375834.1(WIPF1):c.1454G>A (p.Arg485Gln) SNV Uncertain significance 862621 GRCh37: 2:175431800-175431800
GRCh38: 2:174567072-174567072
45 WIPF1 NM_001375834.1(WIPF1):c.1252C>G (p.Leu418Val) SNV Uncertain significance 945419 GRCh37: 2:175432679-175432679
GRCh38: 2:174567951-174567951
46 WIPF1 NM_001375834.1(WIPF1):c.605G>C (p.Gly202Ala) SNV Uncertain significance 946091 GRCh37: 2:175436928-175436928
GRCh38: 2:174572200-174572200
47 WIPF1 NM_001375834.1(WIPF1):c.19_20delinsAG (p.Pro7Arg) Indel Uncertain significance 949586 GRCh37: 2:175450282-175450283
GRCh38: 2:174585554-174585555
48 WIPF1 NM_001375834.1(WIPF1):c.509C>T (p.Pro170Leu) SNV Uncertain significance 953138 GRCh37: 2:175437024-175437024
GRCh38: 2:174572296-174572296
49 WIPF1 NM_001375834.1(WIPF1):c.811G>A (p.Val271Met) SNV Uncertain significance 955072 GRCh37: 2:175436722-175436722
GRCh38: 2:174571994-174571994
50 WIPF1 NM_001375834.1(WIPF1):c.235G>C (p.Gly79Arg) SNV Uncertain significance 957962 GRCh37: 2:175440055-175440055
GRCh38: 2:174575327-174575327

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

3 CDC
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10 dbSNP
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45 MESH via Orphanet
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57 OMIM® (Updated 20-May-2021)
61 PubMed
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71 UMLS via Orphanet
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