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WHIMS
MCID: WHM001
MIFTS: 55

Whim Syndrome (WHIMS)

Categories: Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Whim Syndrome

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MalaCards integrated aliases for Whim Syndrome:

Name: Whim Syndrome 58 12 54 60 76 13 56 45 15 74
Warts, Hypogammaglobulinemia, Infections, and Myelokathexis 12 54 30 6 41
Whims 58 12 54 76
Warts-Hypogammaglobulinemia-Infections-Myelokathexis Syndrome 12 60
Warts, Hypogammaglobulinemia, Infections, and Myelokathexis Syndrome 58
Warts, Hypogammaglobulinemia, Infections and Myelokathexis 76
Warts-Infections-Leukopenia-Myelokatexis Syndrome 60
Wilm 60

Characteristics:

Orphanet epidemiological data:

60
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:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy or early childhood


HPO:

33
whim syndrome:
Onset and clinical course infantile onset
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Blood diseases Immune diseases Bone diseases
See all MalaCards categories (disease lists)
ICD10: 35
Orphanet: 60  
Rare immunological diseases


External Ids:

Disease Ontology 12 DOID:0060591
OMIM 58 193670
MeSH 45 C536697
MESH via Orphanet 46 C536697
ICD10 via Orphanet 35 D81.8
UMLS via Orphanet 75 C0472817
Orphanet 60 ORPHA51636
MedGen 43 C0472817
UMLS 74 C0472817
Sources

Summaries for Whim Syndrome

About this section
NIH Rare Diseases : 54 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 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked. 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 marrow, myeloid and kidney, 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 : 58 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 : 76 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 : 77 WHIM Syndrome (or Warts, Hypogammaglobulinemia, Immunodeficiency, and Myelokathexis syndrome) is a rare... more...

Sources

Related Diseases for Whim Syndrome

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

(show top 50) (show all 432)
# Related Disease Score Top Affiliating Genes
1 macroglobulinemia 29.9 CXCL12 CXCR4
2 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 29.9 CXCL12 CXCR4
3 wilms tumor 5 12.8
4 wilms tumor 1 12.7
5 wilms tumor 6 12.6
6 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 12.6
7 global developmental delay, lung cysts, overgrowth, and wilms tumor 12.3
8 hereditary wilms' tumor 12.3
9 cervical wilms' tumor 12.3
10 wilms tumor 2 12.3
11 wilms tumor and radial bilateral aplasia 12.3
12 wilms tumor 4 12.3
13 perlman syndrome 12.2
14 denys-drash syndrome 12.2
15 ovarian wilms' cancer 12.2
16 familial wilms tumor 2 12.2
17 wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome 12.1
18 wilms tumor predisposition 12.1
19 wilms tumor 3 12.1
20 epithelial predominant wilms' tumor 12.1
21 stromal predominant kidney wilms' tumor 12.1
22 mixed cell type kidney wilms' tumor 12.1
23 blastema predominant kidney wilms' tumor 12.1
24 metachronous kidney wilms' tumor 12.0
25 frasier syndrome 11.6
26 aniridia 1 11.5
27 beckwith-wiedemann syndrome 11.5
28 mulibrey nanism 11.5
29 mosaic variegated aneuploidy syndrome 3 11.5
30 hemihyperplasia, isolated 11.4
31 rhabdoid cancer 11.3
32 metanephric adenoma 11.3
33 li-fraumeni syndrome 11.3
34 li-fraumeni syndrome 2 11.3
35 thauvin-robinet-faivre syndrome 11.3
36 aniridia 2 11.3
37 mosaic variegated aneuploidy syndrome 1 11.1
38 childhood multilocular cystic kidney neoplasm 11.0
39 aniridia and absent patella 11.0
40 hyperparathyroidism 2 with jaw tumors 11.0
41 rhabdoid tumor predisposition syndrome 1 11.0
42 mosaic variegated aneuploidy syndrome 2 11.0
43 simpson-golabi-behmel syndrome 11.0
44 leukemia 10.7
45 myeloid leukemia 10.5
46 leukemia, acute myeloid 10.5
47 agammaglobulinemia 10.3
48 breast cancer 10.3
49 sarcoma 10.3
50 tetralogy of fallot 10.3

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



Diseases related to Whim Syndrome
Sources

Symptoms & Phenotypes for Whim Syndrome

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Human phenotypes related to Whim Syndrome:

33 (show all 12)
# Description HPO Frequency HPO Source Accession
1 recurrent upper respiratory tract infections 33 HP:0002788
2 decreased antibody level in blood 33 HP:0004313
3 neutropenia 33 HP:0001875
4 recurrent bacterial infections 33 HP:0002718
5 decreased circulating igg level 33 HP:0004315
6 abnormality of female internal genitalia 33 HP:0000008
7 abnormality of bone marrow cell morphology 33 HP:0005561
8 abnormality of female external genitalia 33 HP:0000055
9 bronchiectasis 33 HP:0002110
10 verrucae 33 HP:0200043
11 bone marrow hypercellularity 33 HP:0031020
12 myelokathexis 33 HP:0031160

Symptoms via clinical synopsis from OMIM:

58
Hematology:
bone marrow hypercellularity
myelokathexis (retention of neutrophils in the bone marrow)
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

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

Genitourinary Internal Genitalia Female:
cervical papillomatosis with cervical dysplasia

Clinical features from OMIM:

193670

MGI Mouse Phenotypes related to Whim Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.63 ACKR3 ADRB2 ARRB2 CXCL12 CXCR4 WIPF1
2 immune system MP:0005387 9.43 ACKR3 ADRB2 ARRB2 CXCL12 CXCR4 WIPF1
3 respiratory system MP:0005388 8.92 ACKR3 ARRB2 CXCR4 WIPF1
Sources

Drugs & Therapeutics for Whim Syndrome

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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 2, Phase 3 135968-09-1
2
Methionine Approved, Nutraceutical Phase 2, Phase 3 63-68-3 6137
3 Anti-HIV Agents Phase 2, Phase 3,Phase 1
4 Anti-Infective Agents Phase 2, Phase 3,Phase 1
5 Antiviral Agents Phase 2, Phase 3,Phase 1
6 Plerixafor octahydrochloride Phase 2, Phase 3,Phase 1
7 Anti-Retroviral Agents Phase 2, Phase 3,Phase 1
8 Immunologic Factors Phase 2, Phase 3
9 Adjuvants, Immunologic Phase 2, 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 2, Phase 3 Plerixafor;G-CSF
3 A Phase I Study of Mozobil in the Treatment of Patients With WHIMS Recruiting NCT00967785 Phase 1, Phase 2 Mozobil (TM)
4 AMD 3100 for Treatment of Myelokathexis Completed NCT01058993 Phase 1 AMD3100 or plerixafor
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

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Genetic Tests for Whim Syndrome

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Genetic tests related to Whim Syndrome:

# Genetic test Affiliating Genes
1 Warts, Hypogammaglobulinemia, Infections, and Myelokathexis 30 CXCR4
Sources

Anatomical Context for Whim Syndrome

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MalaCards organs/tissues related to Whim Syndrome:

42
Bone Marrow, Myeloid, Kidney, Neutrophil, T Cells, B Cells, Spinal Cord
Sources

Publications for Whim Syndrome

About this section

Articles related to Whim Syndrome:

(show top 50) (show all 66)
# Title Authors Year
1
Long-Term Outcome of WHIM Syndrome in 18 Patients: High Risk of Lung Disease and HPV-Related Malignancies. ( 30716504 )
2019
2
WHIM syndrome: Immunopathogenesis, treatment and cure strategies. ( 30565238 )
2019
3
Plerixafor for the Treatment of WHIM Syndrome. ( 30625055 )
2019
4
Plerixafor for the Treatment of WHIM Syndrome. ( 30995387 )
2019
5
Plerixafor for the Treatment of WHIM Syndrome. Reply. ( 30995388 )
2019
6
The WHIM Syndrome Is No Longer a Whim. ( 31076063 )
2019
7
Neutropenia, hypogammaglobulinemia, and pneumonia: A case of WHIM syndrome. ( 29575308 )
2018
8
Mechanisms of Sustained Neutrophilia in Patient WHIM-09, Cured of WHIM Syndrome by Chromothripsis. ( 29177911 )
2018
9
Cxcr4-haploinsufficient bone marrow transplantation corrects leukopenia in an unconditioned WHIM syndrome model. ( 29715199 )
2018
10
Transient Marked Increase of γδ T Cells in WHIM Syndrome After Successful HSCT. ( 29974365 )
2018
11
Adaptive Immunodeficiency in WHIM Syndrome. ( 30577453 )
2018
12
Dysplasia of Granulocytes in a Patient with HPV Disease, Recurrent Infections, and B Lymphopenia: A Novel Variant of WHIM Syndrome? ( 28512628 )
2017
13
Preference of Genetic Diagnosis of CXCR4 Mutation Compared with Clinical Diagnosis of WHIM Syndrome. ( 28353164 )
2017
14
WHIM Syndrome With a Novel CXCR4 Variant in a Korean Child. ( 28643496 )
2017
15
CXCR4-Specific Nanobodies as Potential Therapeutics for WHIM syndrome. ( 28768817 )
2017
16
Pathogenesis, diagnosis and therapeutic strategies in WHIM syndrome immunodeficiency. ( 29057173 )
2017
17
How I treat warts, hypogammaglobulinemia, infections, and myelokathexis syndrome. ( 29066537 )
2017
18
WHIM Syndrome Caused by Waldenström's Macroglobulinemia-Associated Mutation CXCR4 (L329fs). ( 27059040 )
2016
19
Primary cutaneous follicle center lymphoma in a patient with WHIM syndrome. ( 25571909 )
2016
20
Chromothriptic cure of WHIM syndrome. ( 25662009 )
2015
21
Chromothriptic cure of WHIM syndrome: Implications for bone marrow transplantation. ( 26459672 )
2015
22
A phase 1 clinical trial of long-term, low-dose treatment of WHIM syndrome with the CXCR4 antagonist plerixafor. ( 24523241 )
2014
23
[WHIM syndrome: presumptive diagnosis based on myelokathexis on bone marrow smear]. ( 24492099 )
2014
24
The CXCR4 mutations in WHIM syndrome impair the stability of the T-cell immunologic synapse. ( 23794067 )
2013
25
G protein-coupled receptor kinase-3-deficient mice exhibit WHIM syndrome features and attenuated inflammatory responses. ( 23935208 )
2013
26
Description and outcome of a cohort of 8 patients with WHIM syndrome from the French Severe Chronic Neutropenia Registry. ( 23009155 )
2012
27
Tetralogy of fallot is an uncommon manifestation of warts, hypogammaglobulinemia, infections, and myelokathexis syndrome. ( 22748845 )
2012
28
WHIM syndrome caused by a single amino acid substitution in the carboxy-tail of chemokine receptor CXCR4. ( 22596258 )
2012
29
Unexpected developments in immune organs in WHIM syndrome. ( 22700690 )
2012
30
AMD3100 is a potent antagonist at CXCR4(R334X) , a hyperfunctional mutant chemokine receptor and cause of WHIM syndrome. ( 21070597 )
2011
31
Clinical and genetic features of Warts, Hypogammaglobulinemia, Infections and Myelokathexis (WHIM) syndrome. ( 21506920 )
2011
32
The CXCR4 antagonist plerixafor is a potential therapy for myelokathexis, WHIM syndrome. ( 21835955 )
2011
33
The CXCR4 antagonist plerixafor corrects panleukopenia in patients with WHIM syndrome. ( 21890643 )
2011
34
A report of WHIM syndrome (myelokathexis) - clinical features and bone marrow morphology. ( 23049346 )
2011
35
Successful umbilical cord blood stem cell transplantation in a child with WHIM syndrome. ( 19878273 )
2010
36
WHIM syndrome and oral squamous cell carcinoma. ( 19926501 )
2010
37
Oligoclonality, impaired class switch and B-cell memory responses in WHIM syndrome. ( 20226738 )
2010
38
Live imaging of neutrophil motility in a zebrafish model of WHIM syndrome. ( 20592249 )
2010
39
Human papillomavirus typing of verrucae in a patient with WHIM syndrome. ( 20713842 )
2010
40
Defect of plasmacytoid dendritic cells in warts, hypogammaglobulinemia, infections, myelokathexis (WHIM) syndrome patients. ( 20736454 )
2010
41
A pivotal role for CXCL12 signaling in HPV-mediated transformation of keratinocytes: clues to understanding HPV-pathogenesis in WHIM syndrome. ( 21147466 )
2010
42
CXCL12/CXCR4-axis dysfunctions: Markers of the rare immunodeficiency disorder WHIM syndrome. ( 21178277 )
2010
43
WHIM syndrome: congenital immune deficiency disease. ( 19057201 )
2009
44
A case of WHIM syndrome associated with diabetes and hypothyroidism. ( 19476565 )
2009
45
Impaired recruitment of Grk6 and beta-Arrestin 2 causes delayed internalization and desensitization of a WHIM syndrome-associated CXCR4 mutant receptor. ( 19956569 )
2009
46
Clinical and genetic diagnosis of warts, hypogammaglobulinemia, infections, and myelokathexis syndrome in 10 patients. ( 19321197 )
2009
47
Leukocyte analysis from WHIM syndrome patients reveals a pivotal role for GRK3 in CXCR4 signaling. ( 18274673 )
2008
48
CXCR4 dimerization and beta-arrestin-mediated signaling account for the enhanced chemotaxis to CXCL12 in WHIM syndrome. ( 18436740 )
2008
49
Familial occurrence of warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome. ( 19043667 )
2008
50
[The Whim syndrome: a rare cause of diffuse bronchiectasis. Immune defect of CXCR4 and chronic bronchial suppuration]. ( 18535531 )
2008
Sources

Variations for Whim Syndrome

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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 GRCh38 Chromosome 2, 136115145: 136115145
12 CXCR4 NM_003467.2(CXCR4): c.783C> T (p.Ile261=) single nucleotide variant Benign/Likely benign rs148279552 GRCh37 Chromosome 2, 136872715: 136872715
13 CXCR4 NM_003467.2(CXCR4): c.458A> C (p.Glu153Ala) single nucleotide variant Uncertain significance rs1553457905 GRCh37 Chromosome 2, 136873040: 136873040
14 CXCR4 NM_003467.2(CXCR4): c.458A> C (p.Glu153Ala) single nucleotide variant Uncertain significance rs1553457905 GRCh38 Chromosome 2, 136115470: 136115470
15 CXCR4 NM_003467.2(CXCR4): c.273T> C (p.Leu91=) single nucleotide variant Likely benign rs1025484081 GRCh37 Chromosome 2, 136873225: 136873225
16 CXCR4 NM_003467.2(CXCR4): c.273T> C (p.Leu91=) single nucleotide variant Likely benign rs1025484081 GRCh38 Chromosome 2, 136115655: 136115655
17 CXCR4 NM_003467.2(CXCR4): c.294C> T (p.Ala98=) single nucleotide variant Likely benign rs142289207 GRCh38 Chromosome 2, 136115634: 136115634
18 CXCR4 NM_003467.2(CXCR4): c.294C> T (p.Ala98=) single nucleotide variant Likely benign rs142289207 GRCh37 Chromosome 2, 136873204: 136873204
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
Sources

Expression for Whim Syndrome

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Search GEO for disease gene expression data for Whim Syndrome.
Sources

Pathways for Whim Syndrome

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

(show all 18)
# Super pathways Score Top Affiliating Genes
1
Signaling by GPCR 67
Show member pathways
 13.61 ACKR3 ADRB2 ARRB2 CXCL12 CXCR4 GRK3
2
CCR5 Pathway in Macrophages 65
Show member pathways
 12.38 ARRB2 CXCL12 CXCR4 GRK3
3
Neuroscience 4
12.27 ADRB2 CXCR4 GRK3
4
ADP signalling through P2Y purinoceptor 12 67
Show member pathways
 12.2 ADRB2 ARRB2 GRK3
5
Myometrial Relaxation and Contraction Pathways 1
Show member pathways
 12.18 ACKR3 ADRB2 ARRB2
6
EphB-EphrinB Signaling 65
Show member pathways
 12.01 CXCL12 CXCR4 WIPF1
7
Clathrin-mediated endocytosis 67
Show member pathways
 11.95 ADRB2 ARRB2 GRK3
8
G alpha (s) signalling events 67
11.6 ADRB2 ARRB2 GRK3
9
Corticotropin-releasing hormone signaling pathway 1
11.54 ARRB2 GRK3
10
Chemokine Superfamily Pathway: Human/Mouse Ligand-Receptor Interactions 66
Show member pathways
 11.4 ACKR3 CXCL12 CXCR4
11
HIF-1-alpha transcription factor network 1
11.38 CXCL12 CXCR4
12
Endocytosis 38
11.31 ARRB2 CXCR4 GRK3 WIPF1
13
Signaling by Slit 65
11.23 CXCL12 CXCR4
14
Thromboxane A2 receptor signaling 1
11.19 ARRB2 GRK3
15
Arf6 signaling events 1
11.03 ADRB2 ARRB2
16
CXCR4-mediated signaling events 1
11.01 ARRB2 CXCL12 CXCR4
17
Syndecan-4-mediated signaling events 1
10.97 CXCL12 CXCR4
18
Diuretics Pathway, Pharmacodynamics 62
10.9 ARRB2 GRK3
Sources

GO Terms for Whim Syndrome

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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 signal transduction GO:0007165 9.8 ACKR3 ADRB2 ARRB2 CXCL12 CXCR4 GRK3
2 immune response GO:0006955 9.71 ACKR3 CXCL12 CXCR4
3 viral process GO:0016032 9.69 ACKR3 CXCL12 CXCR4
4 brain development GO:0007420 9.63 ARRB2 CXCL12 CXCR4
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 chemokine-mediated signaling pathway GO:0070098 9.49 ACKR3 CXCL12
9 positive regulation of protein ubiquitination GO:0031398 9.48 ADRB2 ARRB2
10 G protein-coupled receptor signaling pathway GO:0007186 9.43 ACKR3 ADRB2 ARRB2 CXCL12 CXCR4 GRK3
11 negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage GO:1902230 9.4 ACKR3 CXCL12
12 detection of temperature stimulus involved in sensory perception of pain GO:0050965 9.37 ARRB2 CXCL12
13 receptor internalization GO:0031623 9.33 ACKR3 ARRB2 GRK3
14 desensitization of G protein-coupled receptor signaling pathway by arrestin GO:0002032 9.26 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

Sources for Whim Syndrome

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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