WHIMS
MCID: WHM001
MIFTS: 54

Whim Syndrome (WHIMS)

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

Aliases & Classifications for Whim Syndrome

MalaCards integrated aliases for Whim Syndrome:

Name: Whim Syndrome 57 12 53 59 75 13 55 44 15 73
Warts, Hypogammaglobulinemia, Infections, and Myelokathexis 12 53 29 6 40
Whims 57 12 53 75
Warts-Hypogammaglobulinemia-Infections-Myelokathexis Syndrome 12 59
Warts, Hypogammaglobulinemia, Infections, and Myelokathexis Syndrome 57
Warts, Hypogammaglobulinemia, Infections and Myelokathexis 75
Warts-Infections-Leukopenia-Myelokatexis Syndrome 59
Wilm 59

Characteristics:

Orphanet epidemiological data:

59
whim syndrome
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Prevalence: <1/1000000 (Worldwide),<1/1000000 (France); Age of onset: Adolescent,Adult,Childhood; Age of death: adult;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy or early childhood


HPO:

32
whim syndrome:
Onset and clinical course infantile onset
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare immunological diseases


External Ids:

OMIM 57 193670
Disease Ontology 12 DOID:0060591
MeSH 44 C536697
Orphanet 59 ORPHA51636
MESH via Orphanet 45 C536697
UMLS via Orphanet 74 C0472817
ICD10 via Orphanet 34 D81.8
MedGen 42 C0472817
UMLS 73 C0472817

Summaries for Whim Syndrome

NIH Rare Diseases : 53 WHIM syndrome is an acronym for a rare immunodeficiency disorder with each letter representing a predominant feature of the condition: (W) = warts; (H) = hypogammaglobulinemia; (I) = infections; and (M) = myelokathexis (retention of neutrophils in the bone marrow). Symptoms usually begin in early childhood with recurrent bacterial infections such as respiratory infections and cellulitis. In later childhood, individuals develop widespread warts that often become persistent despite treatments that are normally effective. Warts that involve the genital area may eventually cause cancer. It is caused by mutations in the CXCR4 gene and is inherited in an autosomal dominant manner. Treatment may include medications that replace antibodies (intravenous immunoglobulin) or increase the number of neutrophils; vaccinations; and prophylacticantibiotics to reduce the risk of infections.

MalaCards based summary : Whim Syndrome, also known as warts, hypogammaglobulinemia, infections, and myelokathexis, is related to macroglobulinemia and wilms tumor 1. An important gene associated with Whim Syndrome is CXCR4 (C-X-C Motif Chemokine Receptor 4), and among its related pathways/superpathways are Signaling by GPCR and CCR5 Pathway in Macrophages. The drugs Lenograstim and Methionine have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and myeloid, and related phenotypes are recurrent upper respiratory tract infections and decreased antibody level in blood

Disease Ontology : 12 An immunodeficiency disease characterized by neutropenia, hypogammaglobulinemia, and extensive human papillomavirus (HPV) infection. It has material basis in heterozygous mutation in the CXCR4 gene on chromosome 2q22.

OMIM : 57 WHIM syndrome is an immunodeficiency disease characterized by neutropenia, hypogammaglobulinemia, and extensive human papillomavirus (HPV) infection. Despite the peripheral neutropenia, bone marrow aspirates from affected individuals contain abundant mature myeloid cells, a condition termed myelokathexis. The susceptibility to HPV is disproportionate compared with other immunodeficiency conditions (summary by Hernandez et al., 2003). (193670)

UniProtKB/Swiss-Prot : 75 WHIM syndrome: Immunodeficiency disease characterized by neutropenia, hypogammaglobulinemia and extensive human papillomavirus (HPV) infection. Despite the peripheral neutropenia, bone marrow aspirates from affected individuals contain abundant mature myeloid cells, a condition termed myelokathexis.

Wikipedia : 76 WHIM Syndrome (or Warts, Hypogammaglobulinemia, Immunodeficiency, and Myelokathexis syndrome) is a rare... more...

Related Diseases for Whim Syndrome

Diseases related to Whim Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 357)
# Related Disease Score Top Affiliating Genes
1 macroglobulinemia 29.9 CXCR4 CXCL12
2 wilms tumor 1 12.7
3 wilms tumor 6 12.7
4 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 12.6
5 wilms tumor 5 12.3
6 hereditary wilms' tumor 12.3
7 cervical wilms' tumor 12.2
8 wilms tumor 2 12.2
9 wilms tumor 4 12.2
10 perlman syndrome 12.2
11 denys-drash syndrome 12.2
12 familial wilms tumor 2 12.1
13 wilms tumor and radial bilateral aplasia 12.1
14 wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome 12.1
15 wilms tumor predisposition 12.1
16 wilms tumor 3 12.1
17 epithelial predominant wilms' tumor 12.1
18 mixed cell type kidney wilms' tumor 12.0
19 blastema predominant kidney wilms' tumor 12.0
20 stromal predominant kidney wilms' tumor 12.0
21 ovarian wilms' cancer 12.0
22 metachronous kidney wilms' tumor 12.0
23 global developmental delay-lung cysts-overgrowth-wilms tumor syndrome 11.9
24 frasier syndrome 11.5
25 beckwith-wiedemann syndrome 11.5
26 aniridia 1 11.4
27 mulibrey nanism 11.4
28 rhabdoid cancer 11.3
29 metanephric adenoma 11.3
30 hemihyperplasia, isolated 11.3
31 li-fraumeni syndrome 11.3
32 bohring-opitz syndrome 11.3
33 li-fraumeni syndrome 2 11.3
34 mosaic variegated aneuploidy syndrome 1 11.1
35 mosaic variegated aneuploidy syndrome 3 11.1
36 aniridia and absent patella 10.9
37 hyperparathyroidism 2 with jaw tumors 10.9
38 megalencephaly-capillary malformation-polymicrogyria syndrome 10.9
39 rhabdoid tumor predisposition syndrome 1 10.9
40 mosaic variegated aneuploidy syndrome 2 10.9
41 thauvin-robinet-faivre syndrome 10.9
42 aniridia 2 10.9
43 childhood multilocular cystic kidney neoplasm 10.9
44 mosaic variegated aneuploidy syndrome 10.9
45 simpson-golabi-behmel syndrome 10.9
46 leukemia 10.5
47 myeloid leukemia 10.4
48 agammaglobulinemia 10.4
49 leukemia, acute myeloid 10.4
50 neuroblastoma 10.3

Graphical network of the top 20 diseases related to Whim Syndrome:



Diseases related to Whim Syndrome

Symptoms & Phenotypes for Whim Syndrome

Symptoms via clinical synopsis from OMIM:

57
Immunology:
hypogammaglobulinemia
chronic human papillomavirus (hpv) infection
recurrent upper respiratory infections

Genitourinary Internal Genitalia Female:
cervical papillomatosis with cervical dysplasia

Hematology:
myelokathexis (retention of neutrophils in the bone marrow)
bone marrow hypercellularity
peripheral neutropenia
hypermature neutrophils have condensed nuclei connected by long, stringy filaments and vacuolated cytoplasm

Genitourinary External Genitalia Female:
vulval condylomata acuminata

Skin Nails Hair Skin:
verrucae (warts), multiple


Clinical features from OMIM:

193670

Human phenotypes related to Whim Syndrome:

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 recurrent upper respiratory tract infections 32 HP:0002788
2 decreased antibody level in blood 32 HP:0004313
3 neutropenia 32 HP:0001875
4 abnormality of female internal genitalia 32 HP:0000008
5 abnormality of bone marrow cell morphology 32 HP:0005561
6 recurrent bacterial infections 32 HP:0002718
7 abnormality of female external genitalia 32 HP:0000055
8 bronchiectasis 32 HP:0002110
9 verrucae 32 HP:0200043
10 igg deficiency 32 HP:0004315
11 bone marrow hypercellularity 32 HP:0031020
12 myelokathexis 32 HP:0031160

MGI Mouse Phenotypes related to Whim Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.1 ACKR3 ADRB2 ARRB2 CXCL12 CXCR4 SAG

Drugs & Therapeutics for Whim Syndrome

Drugs for Whim Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lenograstim Approved, Investigational Phase 3 135968-09-1
2
Methionine Approved, Nutraceutical Phase 3 63-68-3 6137
3 Anti-Retroviral Agents Phase 3,Phase 1
4 Antiviral Agents Phase 3,Phase 1
5 JM 3100 Phase 3,Phase 1
6 Anti-HIV Agents Phase 3,Phase 1
7 Anti-Infective Agents Phase 3,Phase 1
8 Adjuvants, Immunologic Phase 3
9 Immunologic Factors Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Trial of X4P-001 in Patients With WHIM Syndrome Active, not recruiting NCT03005327 Phase 2, Phase 3 X4P-001;Placebo
2 Plerixafor Versus G-CSF in the Treatment of People With WHIM Syndrome Active, not recruiting NCT02231879 Phase 3 Plerixafor;G-CSF
3 AMD 3100 for Treatment of Myelokathexis Completed NCT01058993 Phase 1 AMD3100 or plerixafor
4 A Phase I Study of Mozobil in the Treatment of Patients With WHIMS Recruiting NCT00967785 Phase 1 Mozobil (TM)
5 A Retrospective and Prospective Natural History Study of Patients With WHIM Syndrome Withdrawn NCT03087370

Search NIH Clinical Center for Whim Syndrome

Cochrane evidence based reviews: whim syndrome

Genetic Tests for Whim Syndrome

Genetic tests related to Whim Syndrome:

# Genetic test Affiliating Genes
1 Warts, Hypogammaglobulinemia, Infections, and Myelokathexis 29 CXCR4

Anatomical Context for Whim Syndrome

MalaCards organs/tissues related to Whim Syndrome:

41
Bone, Bone Marrow, Myeloid, Neutrophil, B Cells, Lung, Kidney

Publications for Whim Syndrome

Articles related to Whim Syndrome:

(show top 50) (show all 57)
# Title Authors Year
1
Mechanisms of Sustained Neutrophilia in Patient WHIM-09, Cured of WHIM Syndrome by Chromothripsis. ( 29177911 )
2018
2
Cxcr4-haploinsufficient bone marrow transplantation corrects leukopenia in an unconditioned WHIM syndrome model. ( 29715199 )
2018
3
Neutropenia, hypogammaglobulinemia, and pneumonia: A case of WHIM syndrome. ( 29575308 )
2018
4
Transient Marked Increase of I^I' T Cells in WHIM Syndrome After Successful HSCT. ( 29974365 )
2018
5
Dysplasia of Granulocytes in a Patient with HPV Disease, Recurrent Infections, and B Lymphopenia: A Novel Variant of WHIM Syndrome? ( 28512628 )
2017
6
CXCR4-Specific Nanobodies as Potential Therapeutics for WHIM syndrome. ( 28768817 )
2017
7
Pathogenesis, diagnosis and therapeutic strategies in WHIM syndrome immunodeficiency. ( 29057173 )
2017
8
WHIM Syndrome With a Novel CXCR4 Variant in a Korean Child. ( 28643496 )
2017
9
Preference of Genetic Diagnosis of CXCR4 Mutation Compared with Clinical Diagnosis of WHIM Syndrome. ( 28353164 )
2017
10
How I treat warts, hypogammaglobulinemia, infections, and myelokathexis syndrome. ( 29066537 )
2017
11
WHIM Syndrome Caused by WaldenstrAPm's Macroglobulinemia-Associated Mutation CXCR4 (L329fs). ( 27059040 )
2016
12
Chromothriptic cure of WHIM syndrome. ( 25662009 )
2015
13
Chromothriptic cure of WHIM syndrome: Implications for bone marrow transplantation. ( 26459672 )
2015
14
Primary cutaneous follicle center lymphoma in a patient with WHIM syndrome. ( 25571909 )
2015
15
[WHIM syndrome: presumptive diagnosis based on myelokathexis on bone marrow smear]. ( 24492099 )
2014
16
A phase 1 clinical trial of long-term, low-dose treatment of WHIM syndrome with the CXCR4 antagonist plerixafor. ( 24523241 )
2014
17
G protein-coupled receptor kinase-3-deficient mice exhibit WHIM syndrome features and attenuated inflammatory responses. ( 23935208 )
2013
18
The CXCR4 mutations in WHIM syndrome impair the stability of the T-cell immunologic synapse. ( 23794067 )
2013
19
Description and outcome of a cohort of 8 patients with WHIM syndrome from the French Severe Chronic Neutropenia Registry. ( 23009155 )
2012
20
WHIM syndrome caused by a single amino acid substitution in the carboxy-tail of chemokine receptor CXCR4. ( 22596258 )
2012
21
Unexpected developments in immune organs in WHIM syndrome. ( 22700690 )
2012
22
Clinical and genetic features of Warts, Hypogammaglobulinemia, Infections and Myelokathexis (WHIM) syndrome. ( 21506920 )
2011
23
AMD3100 is a potent antagonist at CXCR4(R334X) , a hyperfunctional mutant chemokine receptor and cause of WHIM syndrome. ( 21070597 )
2011
24
The CXCR4 antagonist plerixafor corrects panleukopenia in patients with WHIM syndrome. ( 21890643 )
2011
25
A report of WHIM syndrome (myelokathexis) - clinical features and bone marrow morphology. ( 23049346 )
2011
26
The CXCR4 antagonist plerixafor is a potential therapy for myelokathexis, WHIM syndrome. ( 21835955 )
2011
27
Oligoclonality, impaired class switch and B-cell memory responses in WHIM syndrome. ( 20226738 )
2010
28
Defect of plasmacytoid dendritic cells in warts, hypogammaglobulinemia, infections, myelokathexis (WHIM) syndrome patients. ( 20736454 )
2010
29
Successful umbilical cord blood stem cell transplantation in a child with WHIM syndrome. ( 19878273 )
2010
30
A pivotal role for CXCL12 signaling in HPV-mediated transformation of keratinocytes: clues to understanding HPV-pathogenesis in WHIM syndrome. ( 21147466 )
2010
31
Live imaging of neutrophil motility in a zebrafish model of WHIM syndrome. ( 20592249 )
2010
32
WHIM syndrome and oral squamous cell carcinoma. ( 19926501 )
2010
33
Human papillomavirus typing of verrucae in a patient with WHIM syndrome. ( 20713842 )
2010
34
CXCL12/CXCR4-axis dysfunctions: Markers of the rare immunodeficiency disorder WHIM syndrome. ( 21178277 )
2010
35
A case of WHIM syndrome associated with diabetes and hypothyroidism. ( 19476565 )
2009
36
Impaired recruitment of Grk6 and beta-Arrestin 2 causes delayed internalization and desensitization of a WHIM syndrome-associated CXCR4 mutant receptor. ( 19956569 )
2009
37
WHIM syndrome: congenital immune deficiency disease. ( 19057201 )
2009
38
Clinical and genetic diagnosis of warts, hypogammaglobulinemia, infections, and myelokathexis syndrome in 10 patients. ( 19321197 )
2009
39
Leukocyte analysis from WHIM syndrome patients reveals a pivotal role for GRK3 in CXCR4 signaling. ( 18274673 )
2008
40
CXCR4 dimerization and beta-arrestin-mediated signaling account for the enhanced chemotaxis to CXCL12 in WHIM syndrome. ( 18436740 )
2008
41
[The Whim syndrome: a rare cause of diffuse bronchiectasis. Immune defect of CXCR4 and chronic bronchial suppuration]. ( 18535531 )
2008
42
Familial occurrence of warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome. ( 19043667 )
2008
43
WHIM syndrome. ( 17803866 )
2007
44
WHIM syndrome myelokathexis reproduced in the NOD/SCID mouse xenotransplant model engrafted with healthy human stem cells transduced with C-terminus-truncated CXCR4. ( 16946301 )
2007
45
Recurrent CXCR4 sequence variation in a girl with WHIM syndrome. ( 17087743 )
2007
46
The WHIM syndrome shows a peculiar dysgranulopoiesis: myelokathexis. ( 16487166 )
2006
47
Stromal-derived factor-1 abolishes constitutive apoptosis of WHIM syndrome neutrophils harbouring a truncating CXCR4 mutation. ( 16899028 )
2006
48
WHIM syndrome: a defect in CXCR4 signaling. ( 16091205 )
2005
49
CXCR4 mutations in WHIM syndrome: a misguided immune system? ( 15661033 )
2005
50
Enhanced function with decreased internalization of carboxy-terminus truncated CXCR4 responsible for WHIM syndrome. ( 15781337 )
2005

Variations for Whim Syndrome

ClinVar genetic disease variations for Whim Syndrome:

6 (show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 CXCR4 NM_003467.2(CXCR4): c.1000C> T (p.Arg334Ter) single nucleotide variant Pathogenic rs104893624 GRCh37 Chromosome 2, 136872498: 136872498
2 CXCR4 NM_003467.2(CXCR4): c.1000C> T (p.Arg334Ter) single nucleotide variant Pathogenic rs104893624 GRCh38 Chromosome 2, 136114928: 136114928
3 CXCR4 NM_003467.2(CXCR4): c.1016_1017delCT (p.Ser339Cysfs) deletion Pathogenic rs730880320 GRCh37 Chromosome 2, 136872481: 136872482
4 CXCR4 NM_003467.2(CXCR4): c.1016_1017delCT (p.Ser339Cysfs) deletion Pathogenic rs730880320 GRCh38 Chromosome 2, 136114911: 136114912
5 CXCR4 NM_003467.2(CXCR4): c.1027G> T (p.Glu343Ter) single nucleotide variant Pathogenic rs104893625 GRCh37 Chromosome 2, 136872471: 136872471
6 CXCR4 NM_003467.2(CXCR4): c.1027G> T (p.Glu343Ter) single nucleotide variant Pathogenic rs104893625 GRCh38 Chromosome 2, 136114901: 136114901
7 CXCR4 NM_003467.2(CXCR4): c.1013C> G (p.Ser338Ter) single nucleotide variant Pathogenic rs104893626 GRCh37 Chromosome 2, 136872485: 136872485
8 CXCR4 NM_003467.2(CXCR4): c.1013C> G (p.Ser338Ter) single nucleotide variant Pathogenic rs104893626 GRCh38 Chromosome 2, 136114915: 136114915
9 CXCR4 NM_003467.2(CXCR4): c.414C> T (p.Ile138=) single nucleotide variant Benign rs2228014 GRCh38 Chromosome 2, 136115514: 136115514
10 CXCR4 NM_003467.2(CXCR4): c.414C> T (p.Ile138=) single nucleotide variant Benign rs2228014 GRCh37 Chromosome 2, 136873084: 136873084
11 CXCR4 NM_003467.2(CXCR4): c.783C> T (p.Ile261=) single nucleotide variant Benign/Likely benign rs148279552 GRCh37 Chromosome 2, 136872715: 136872715
12 CXCR4 NM_003467.2(CXCR4): c.783C> T (p.Ile261=) single nucleotide variant Benign/Likely benign rs148279552 GRCh38 Chromosome 2, 136115145: 136115145
13 CXCR4 NM_003467.2(CXCR4): c.458A> C (p.Glu153Ala) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 136115470: 136115470
14 CXCR4 NM_003467.2(CXCR4): c.458A> C (p.Glu153Ala) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 136873040: 136873040
15 CXCR4 NM_003467.2(CXCR4): c.273T> C (p.Leu91=) single nucleotide variant Likely benign rs1025484081 GRCh38 Chromosome 2, 136115655: 136115655
16 CXCR4 NM_003467.2(CXCR4): c.273T> C (p.Leu91=) single nucleotide variant Likely benign rs1025484081 GRCh37 Chromosome 2, 136873225: 136873225
17 CXCR4 NM_003467.2(CXCR4): c.294C> T (p.Ala98=) single nucleotide variant Likely benign rs142289207 GRCh37 Chromosome 2, 136873204: 136873204
18 CXCR4 NM_003467.2(CXCR4): c.294C> T (p.Ala98=) single nucleotide variant Likely benign rs142289207 GRCh38 Chromosome 2, 136115634: 136115634
19 CXCR4 NM_003467.2(CXCR4): c.994G> T (p.Gly332Ter) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 136872504: 136872504
20 CXCR4 NM_003467.2(CXCR4): c.994G> T (p.Gly332Ter) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 136114934: 136114934

Expression for Whim Syndrome

Search GEO for disease gene expression data for Whim Syndrome.

Pathways for Whim Syndrome

Pathways related to Whim Syndrome according to GeneCards Suite gene sharing:

(show all 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.64 ACKR3 ADRB2 ARRB2 CXCL12 CXCR4 GRK3
2
Show member pathways
12.43 ARRB2 CXCL12 CXCR4 GRK3
3
Show member pathways
12.21 ADRB2 ARRB2 GRK3
4
Show member pathways
12.19 ACKR3 ADRB2 ARRB2
5 12.04 ARRB2 CXCR4 GRK3
6
Show member pathways
11.98 ADRB2 ARRB2 GRK3
7 11.79 ADRB2 CXCR4 GRK3 SAG
8 11.66 ADRB2 ARRB2 GRK3
9 11.54 ARRB2 GRK3
10 11.54 ADRB2 GRK3 SAG
11
Show member pathways
11.4 ACKR3 CXCL12 CXCR4
12 11.38 CXCL12 CXCR4
13 11.24 CXCL12 CXCR4
14 11.2 ARRB2 GRK3
15 11.04 ADRB2 ARRB2
16 10.99 CXCL12 CXCR4
17 10.92 ARRB2 GRK3
18 10.68 ARRB2 CXCL12 CXCR4

GO Terms for Whim Syndrome

Cellular components related to Whim Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.8 ACKR3 ADRB2 ARRB2 CXCL12 CXCR4 GRK3
2 external side of plasma membrane GO:0009897 9.33 ACKR3 CXCL12 CXCR4
3 clathrin-coated pit GO:0005905 9.26 ACKR3 ARRB2
4 early endosome GO:0005769 9.13 ACKR3 ADRB2 CXCR4
5 endosome GO:0005768 8.92 ACKR3 ADRB2 ARRB2 CXCR4

Biological processes related to Whim Syndrome according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 9.71 ACKR3 CXCL12 CXCR4
2 viral process GO:0016032 9.69 ACKR3 CXCL12 CXCR4
3 brain development GO:0007420 9.63 ARRB2 CXCL12 CXCR4
4 G protein-coupled receptor signaling pathway GO:0007186 9.63 ACKR3 ADRB2 ARRB2 CXCL12 CXCR4 GRK3
5 chemotaxis GO:0006935 9.61 ACKR3 CXCL12 CXCR4
6 positive regulation of cold-induced thermogenesis GO:0120162 9.55 ADRB2 CXCR4
7 calcium-mediated signaling GO:0019722 9.52 ACKR3 CXCR4
8 signal transduction GO:0007165 9.5 ACKR3 ADRB2 ARRB2 CXCL12 CXCR4 GRK3
9 chemokine-mediated signaling pathway GO:0070098 9.49 ACKR3 CXCL12
10 positive regulation of protein ubiquitination GO:0031398 9.48 ADRB2 ARRB2
11 receptor internalization GO:0031623 9.43 ACKR3 ARRB2 GRK3
12 negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage GO:1902230 9.4 ACKR3 CXCL12
13 detection of temperature stimulus involved in sensory perception of pain GO:0050965 9.37 ARRB2 CXCL12
14 desensitization of G protein-coupled receptor signaling pathway by arrestin GO:0002032 9.32 ADRB2 ARRB2
15 cell chemotaxis GO:0060326 8.92 ACKR3 ARRB2 CXCL12 CXCR4

Molecular functions related to Whim Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 coreceptor activity GO:0015026 9.32 ACKR3 CXCR4
2 chemokine binding GO:0019956 9.26 ACKR3 CXCR4
3 C-C chemokine binding GO:0019957 9.16 ACKR3 CXCR4
4 C-C chemokine receptor activity GO:0016493 8.96 ACKR3 CXCR4
5 C-X-C chemokine receptor activity GO:0016494 8.62 ACKR3 CXCR4

Sources for Whim Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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