WHIMS
MCID: WHM001
MIFTS: 53

Whim Syndrome (WHIMS) malady

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

Aliases & Classifications for Whim Syndrome

Aliases & Descriptions for Whim Syndrome:

Name: Whim Syndrome 54 12 50 24 56 66 13 52 42 14 69
Warts, Hypogammaglobulinemia, Infections and Myelokathexis 24 66 29
Whims 12 50 66
Warts-Hypogammaglobulinemia-Infections-Myelokathexis Syndrome 12 56
Warts, Hypogammaglobulinemia, Infections, and Myelokathexis 12 50
Warts-Infections-Leukopenia-Myelokatexis Syndrome 56
Wilm 56

Characteristics:

Orphanet epidemiological data:

56
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;

HPO:

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


Classifications:

Orphanet: 56  
Rare immunological diseases


External Ids:

OMIM 54 193670
Disease Ontology 12 DOID:0060591
ICD10 33 D81.8
MeSH 42 C536697
Orphanet 56 ORPHA51636
MESH via Orphanet 43 C536697
UMLS via Orphanet 70 C0472817
ICD10 via Orphanet 34 D81.8
MedGen 40 C0472817
UMLS 69 C0472817

Summaries for Whim Syndrome

NIH Rare Diseases : 50 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 prophylactic antibiotics to reduce the risk of infections. last updated: 11/13/2011

MalaCards based summary : Whim Syndrome, also known as warts, hypogammaglobulinemia, infections and myelokathexis, is related to wilms tumor susceptibility-5 and wilms tumor 6, and has symptoms including recurrent upper respiratory tract infections, neutropenia and abnormality of female internal genitalia. 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 Maraviroc and Lenograstim have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and myeloid, and related phenotype is hematopoietic system.

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 : 54 WHIM syndrome is an immunodeficiency disease characterized by neutropenia, hypogammaglobulinemia, and extensive human... (193670) more...

UniProtKB/Swiss-Prot : 66 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.

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 91)
id Related Disease Score Top Affiliating Genes
1 wilms tumor susceptibility-5 12.3
2 wilms tumor 6 12.0
3 hereditary wilms' tumor 12.0
4 cervical wilms' tumor 12.0
5 wagr syndrome 11.9
6 perlman syndrome 11.9
7 familial wilms tumor 11.9
8 denys-drash syndrome 11.9
9 wilms tumor and radial bilateral aplasia 11.8
10 wilms tumor predisposition 11.8
11 wilms tumor 2 11.8
12 epithelial predominant wilms' tumor 11.8
13 mixed cell type kidney wilms' tumor 11.8
14 blastema predominant kidney wilms' tumor 11.8
15 stromal predominant kidney wilms' tumor 11.8
16 ovarian wilms' cancer 11.7
17 metachronous kidney wilms' tumor 11.7
18 familial wilms tumor 2 11.7
19 wilms tumor-aniridia-genital anomalies-retardation syndrome 11.7
20 global developmental delay-lung cysts-overgrowth-wilms tumor syndrome 11.7
21 aniridia 11.3
22 frasier syndrome 11.2
23 mulibrey nanism 11.2
24 li-fraumeni syndrome 11.1
25 beckwith-wiedemann syndrome 11.1
26 embryoma 11.1
27 metanephric adenoma 11.0
28 bohring-opitz syndrome 11.0
29 mosaic variegated aneuploidy syndrome 1 10.8
30 wagro syndrome 10.7
31 childhood multilocular cystic kidney neoplasm 10.7
32 rhabdoid cancer 10.7
33 mosaic variegated aneuploidy syndrome 2 10.7
34 simpson-golabi-behmel syndrome 10.7
35 hyperparathyroidism-jaw tumor syndrome 10.7
36 rhabdoid tumors, somatic 10.7
37 hemihyperplasia, isolated 10.7
38 mosaic variegated aneuploidy syndrome 10.7
39 leukemia 10.4
40 renal cell carcinoma, papillary 10.3
41 myeloid leukemia 10.2
42 al gazali sabrinathan nair syndrome 10.1 CXCL12 CXCR4
43 hemihypertrophy 10.1
44 islet cell tumor 10.1 CXCL12 CXCR4
45 chronic cervicitis 10.1 CXCL12 CXCR4
46 tetralogy of fallot 10.1
47 breast cancer 10.1
48 granuloma inguinale 10.1 CXCL12 CXCR4
49 sarcoma 10.0
50 rhabdomyosarcoma 10.0 CXCL12 CXCR4

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



Diseases related to Whim Syndrome

Symptoms & Phenotypes for Whim Syndrome

Symptoms by clinical synopsis from OMIM:

193670

Clinical features from OMIM:

193670

Human phenotypes related to Whim Syndrome:

32 (show all 7)
id Description HPO Frequency HPO Source Accession
1 recurrent upper respiratory tract infections 32 HP:0002788
2 neutropenia 32 HP:0001875
3 abnormality of female internal genitalia 32 HP:0000008
4 abnormality of bone marrow cell morphology 32 HP:0005561
5 abnormality of female external genitalia 32 HP:0000055
6 verrucae 32 HP:0200043
7 igg deficiency 32 HP:0004315

MGI Mouse Phenotypes related to Whim Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.1 ADRB2 ARRB1 ARRB2 CXCL12 CXCR4 GRK6

Drugs & Therapeutics for Whim Syndrome

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

(show all 42)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Maraviroc Approved, Investigational Phase 3 376348-65-1 3002977
2
Lenograstim Approved Phase 3,Phase 2 135968-09-1
3 Antiviral Agents Phase 3,Phase 2,Phase 1
4 Anti-HIV Agents Phase 3,Phase 2,Phase 1
5 Anti-Infective Agents Phase 3,Phase 2,Phase 1
6 JM 3100 Phase 3,Phase 1,Phase 2
7 Anti-Retroviral Agents Phase 3,Phase 2,Phase 1
8 Adjuvants, Immunologic Phase 3,Phase 2
9 HIV Antibodies Phase 2, Phase 3
10 PRO-140 monoclonal antibody Phase 2, Phase 3
11 Immunoglobulins Phase 2, Phase 3
12 Antibodies, Monoclonal Phase 2, Phase 3
13 Antibodies Phase 2, Phase 3
14 methionine Nutraceutical Phase 3
15
Daunorubicin Approved Phase 1, Phase 2 20830-81-3 30323
16
Etoposide Approved Phase 1, Phase 2 33419-42-0 36462
17
Cytarabine Approved, Investigational Phase 1, Phase 2 147-94-4 6253
18
Clofarabine Approved, Investigational Phase 1, Phase 2 123318-82-1 119182
19 Etoposide phosphate Phase 1, Phase 2
20 tyrosine Nutraceutical Phase 1, Phase 2
21
Zinc Approved Phase 1 7440-66-6 32051 23994
22
Ritonavir Approved, Investigational Phase 1 155213-67-5 392622
23
Melphalan Approved Phase 1 148-82-3 4053 460612
24
Fludarabine Approved Phase 1 21679-14-1, 75607-67-9 30751
25
Thiotepa Approved Phase 1 52-24-4 5453
26
Heparin Approved, Investigational Phase 1 9005-49-6 772 46507594
27
Azacitidine Approved, Investigational Phase 1 320-67-2 9444
28
protease inhibitors Phase 1
29 HIV Protease Inhibitors Phase 1
30 Cytochrome P-450 CYP3A Inhibitors Phase 1
31 Cytochrome P-450 Enzyme Inhibitors Phase 1
32 calcium heparin Phase 1
33 Antimetabolites Phase 1
34 Antimetabolites, Antineoplastic Phase 1
35
Progesterone Approved, Vet_approved 57-83-0 5994
36
Adenosine Approved, Investigational 58-61-7 60961
37 Progestins
38 Hormone Antagonists
39 Hormones
40 Hormones, Hormone Substitutes, and Hormone Antagonists
41 Estrogens
42 Estrogens, Conjugated (USP)

Interventional clinical trials:

(show all 21)
id Name Status NCT ID Phase
1 Multicenter, Safety Study Of Maraviroc Completed NCT00478231 Phase 3
2 A Trial of X4P-001 in Patients With WHIM Syndrome Recruiting NCT03005327 Phase 2, Phase 3
3 Plerixafor Versus G-CSF in the Treatment of People With WHIM Syndrome Recruiting NCT02231879 Phase 3
4 An Extension Protocol for Subjects Who Successfully Completed PRO140_CD02 Study Enrolling by invitation NCT02990858 Phase 2, Phase 3
5 Vicriviroc, a CCR5 Inhibitor, Added to an Optimized Antiretroviral Therapy for Previously Treated HIV (VICTOR-E2) (Study P04285)(TERMINATED) Terminated NCT00243568 Phase 3
6 SP01A: The Study of an Oral Entry Inhibitor in Treatment-Experienced HIV Patients Unknown status NCT00299897 Phase 2
7 A Trial to Establish the Feasibility of Combining Either the Tyrosine Kinase Inhibitor AC220,CXCR4 Inhibitor Plerixafor or HSP90 Inhibitor Ganetespib With Chemotherapy in Older Patients With Acute Myeloid Leukaemia and High Risk Myelodysplastic Syndrome. Completed NCT01236144 Phase 1, Phase 2
8 Vicriviroc in HIV(R5/X4)-Treatment Experienced Subjects (Study P05057AM5)(COMPLETED) Completed NCT00551330 Phase 2
9 Safety and Activity of the Oral HIV Entry Inhibitor AMD11070 in HIV Infected Patients Completed NCT00089466 Phase 1, Phase 2
10 A Trial of Plerixafor/G-CSF as Additional Agents for Conditioning Before TCR Alpha/Beta Depleted HSCT in WAS Patients Recruiting NCT03019809 Phase 2
11 AMD 3100 for Treatment of Myelokathexis Completed NCT01058993 Phase 1
12 A Pediatric Study of a Plerixafor Containing Regimen In Second Allogeneic Stem Cell Transplantation Completed NCT01068301 Phase 1
13 Safety of AMD070 When Administered Alone or Boosted With Low-Dose Ritonavir in HIV Uninfected Men Completed NCT00063804 Phase 1
14 Autologous T-Cells Genetically Modified at the CCR5 Gene by Zinc Finger Nucleases SB-728 for HIV Completed NCT00842634 Phase 1
15 A Phase I Study of Mozobil in the Treatment of Patients With WHIMS Recruiting NCT00967785 Phase 1
16 CX-01 Combined With Azacitidine in the Treatment of Relapsed or Refractory Myelodysplastic Syndrome and Acute Myeloid Leukemia Recruiting NCT02995655 Phase 1
17 The Women's Health Initiative Memory Study (The WHIMS Study) Completed NCT00685009
18 Idiopathic CD4 Lymphocytopenia Recruiting NCT02113930
19 Hematopoietic Stem Cell Mobilization in Idiopathic CD4 Lymphocytopenia Patients and Healthy Controls for the Study of T Cell Maturation and Trafficking in Murine Models Recruiting NCT02015013
20 A Retrospective and Prospective Natural History Study of Patients With WHIM Syndrome Not yet recruiting NCT03087370
21 Observational Study of HIV-Infected Subjects With X4-Tropic or Non-Phenotypeable Virus Terminated NCT00321438

Search NIH Clinical Center for Whim Syndrome

Cochrane evidence based reviews: whim syndrome

Genetic Tests for Whim Syndrome

Genetic tests related to Whim Syndrome:

id Genetic test Affiliating Genes
1 Warts, Hypogammaglobulinemia, Infections, and Myelokathexis 29
2 Whim Syndrome 24 CXCR4

Anatomical Context for Whim Syndrome

MalaCards organs/tissues related to Whim Syndrome:

39
Bone, Bone Marrow, Myeloid, Neutrophil, B Cells, T Cells

Publications for Whim Syndrome

Articles related to Whim Syndrome:

(show all 48)
id Title Authors Year
1
Dysplasia of Granulocytes in a Patient with HPV Disease, Recurrent Infections, and B Lymphopenia: A Novel Variant of WHIM Syndrome? ( 28512628 )
2017
2
Preference of Genetic Diagnosis of CXCR4 Mutation Compared with Clinical Diagnosis of WHIM Syndrome. ( 28353164 )
2017
3
WHIM Syndrome Caused by WaldenstrAPm's Macroglobulinemia-Associated Mutation CXCR4 (L329fs). ( 27059040 )
2016
4
Chromothriptic cure of WHIM syndrome. ( 25662009 )
2015
5
Chromothriptic cure of WHIM syndrome: Implications for bone marrow transplantation. ( 26459672 )
2015
6
Primary cutaneous follicle center lymphoma in a patient with WHIM syndrome. ( 25571909 )
2015
7
A phase 1 clinical trial of long-term, low-dose treatment of WHIM syndrome with the CXCR4 antagonist plerixafor. ( 24523241 )
2014
8
G protein-coupled receptor kinase-3-deficient mice exhibit WHIM syndrome features and attenuated inflammatory responses. ( 23935208 )
2013
9
The CXCR4 mutations in WHIM syndrome impair the stability of the T-cell immunologic synapse. ( 23794067 )
2013
10
Description and outcome of a cohort of 8 patients with WHIM syndrome from the French Severe Chronic Neutropenia Registry. ( 23009155 )
2012
11
Unexpected developments in immune organs in WHIM syndrome. ( 22700690 )
2012
12
WHIM syndrome caused by a single amino acid substitution in the carboxy-tail of chemokine receptor CXCR4. ( 22596258 )
2012
13
The CXCR4 antagonist plerixafor is a potential therapy for myelokathexis, WHIM syndrome. ( 21835955 )
2011
14
A report of WHIM syndrome (myelokathexis) - clinical features and bone marrow morphology. ( 23049346 )
2011
15
Clinical and genetic features of Warts, Hypogammaglobulinemia, Infections and Myelokathexis (WHIM) syndrome. ( 21506920 )
2011
16
The CXCR4 antagonist plerixafor corrects panleukopenia in patients with WHIM syndrome. ( 21890643 )
2011
17
AMD3100 is a potent antagonist at CXCR4(R334X) , a hyperfunctional mutant chemokine receptor and cause of WHIM syndrome. ( 21070597 )
2011
18
A pivotal role for CXCL12 signaling in HPV-mediated transformation of keratinocytes: clues to understanding HPV-pathogenesis in WHIM syndrome. ( 21147466 )
2010
19
Live imaging of neutrophil motility in a zebrafish model of WHIM syndrome. ( 20592249 )
2010
20
CXCL12/CXCR4-axis dysfunctions: Markers of the rare immunodeficiency disorder WHIM syndrome. ( 21178277 )
2010
21
WHIM syndrome and oral squamous cell carcinoma. ( 19926501 )
2010
22
Successful umbilical cord blood stem cell transplantation in a child with WHIM syndrome. ( 19878273 )
2010
23
Defect of plasmacytoid dendritic cells in warts, hypogammaglobulinemia, infections, myelokathexis (WHIM) syndrome patients. ( 20736454 )
2010
24
Human papillomavirus typing of verrucae in a patient with WHIM syndrome. ( 20713842 )
2010
25
Oligoclonality, impaired class switch and B-cell memory responses in WHIM syndrome. ( 20226738 )
2010
26
A case of WHIM syndrome associated with diabetes and hypothyroidism. ( 19476565 )
2009
27
Impaired recruitment of Grk6 and beta-Arrestin 2 causes delayed internalization and desensitization of a WHIM syndrome-associated CXCR4 mutant receptor. ( 19956569 )
2009
28
WHIM syndrome: congenital immune deficiency disease. ( 19057201 )
2009
29
Leukocyte analysis from WHIM syndrome patients reveals a pivotal role for GRK3 in CXCR4 signaling. ( 18274673 )
2008
30
Familial occurrence of warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome. ( 19043667 )
2008
31
[The Whim syndrome: a rare cause of diffuse bronchiectasis. Immune defect of CXCR4 and chronic bronchial suppuration]. ( 18535531 )
2008
32
CXCR4 dimerization and beta-arrestin-mediated signaling account for the enhanced chemotaxis to CXCL12 in WHIM syndrome. ( 18436740 )
2008
33
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
34
Recurrent CXCR4 sequence variation in a girl with WHIM syndrome. ( 17087743 )
2007
35
WHIM syndrome. ( 17803866 )
2007
36
The WHIM syndrome shows a peculiar dysgranulopoiesis: myelokathexis. ( 16487166 )
2006
37
Stromal-derived factor-1 abolishes constitutive apoptosis of WHIM syndrome neutrophils harbouring a truncating CXCR4 mutation. ( 16899028 )
2006
38
The role of a mutation of the CXCR4 gene in WHIM syndrome. ( 16154852 )
2005
39
WHIM syndrome: a defect in CXCR4 signaling. ( 16091205 )
2005
40
WHIM syndromes with different genetic anomalies are accounted for by impaired CXCR4 desensitization to CXCL12. ( 15536153 )
2005
41
CXCR4 mutations in WHIM syndrome: a misguided immune system? ( 15661033 )
2005
42
Enhanced function with decreased internalization of carboxy-terminus truncated CXCR4 responsible for WHIM syndrome. ( 15781337 )
2005
43
Altered leukocyte response to CXCL12 in patients with warts hypogammaglobulinemia, infections, myelokathexis (WHIM) syndrome. ( 15026312 )
2004
44
WHIM syndrome: a genetic disorder of leukocyte trafficking. ( 14612668 )
2003
45
Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunodeficiency disease. ( 12692554 )
2003
46
Epstein-Barr virus-associated T-lymphoproliferative disease with hemophagocytic syndrome, followed by fatal intestinal B lymphoma in a young adult female with WHIM syndrome. Warts, hypogammaglobulinemia, infections, and myelokathexis. ( 12224006 )
2002
47
B-cell lymphoma in a patient with WHIM syndrome. ( 11148489 )
2001
48
WHIM syndrome, an autosomal dominant disorder: clinical, hematological, and molecular studies. ( 10767001 )
2000

Variations for Whim Syndrome

ClinVar genetic disease variations for Whim Syndrome:

6
id 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.1016_1017delCT (p.Ser339Cysfs) deletion Pathogenic rs730880320 GRCh37 Chromosome 2, 136872481: 136872482
3 CXCR4 NM_003467.2(CXCR4): c.1027G> T (p.Glu343Ter) single nucleotide variant Pathogenic rs104893625 GRCh37 Chromosome 2, 136872471: 136872471
4 CXCR4 NM_003467.2(CXCR4): c.1013C> G (p.Ser338Ter) single nucleotide variant Pathogenic rs104893626 GRCh37 Chromosome 2, 136872485: 136872485

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 22)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.76 ADRB2 ARRB1 ARRB2 CXCL12 CXCR4 GRK3
2
Show member pathways
12.38 ARRB1 ARRB2 CXCL12 CXCR4 GRK3 GRK6
3
Show member pathways
12.29 ARRB1 ARRB2 GRK3 GRK6
4 12.28 ADRB2 CXCR4 GRK3
5
Show member pathways
12.26 ADRB2 ARRB1 ARRB2 GRK3
6 12.25 CXCL12 CXCR4 GRK6
7
Show member pathways
12.22 ADRB2 ARRB1 ARRB2 GRK6
8
Show member pathways
12.08 ADRB2 ARRB1 ARRB2 GRK3
9 11.9 ARRB1 GRK3 GRK6
10
Show member pathways
11.87 ARRB1 ARRB2 GRK3 GRK6
11
Show member pathways
11.78 ARRB1 ARRB2 GRK3
12 11.59 ARRB1 ARRB2 GRK3 GRK6
13 11.52 ADRB2 ARRB1 ARRB2 GRK3 GRK6
14 11.52 ADRB2 ARRB1 ARRB2 CXCR4 GRK3 GRK6
15 11.44 ARRB2 CXCL12 CXCR4 GRK6
16 11.43 CXCL12 CXCR4
17 11.41 CXCL12 CXCR4
18 11.27 CXCL12 CXCR4
19 11.22 ARRB2 GRK3
20 11.09 ADRB2 ARRB2
21 11.04 CXCL12 CXCR4
22 11 ARRB2 GRK3

GO Terms for Whim Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.17 ADRB2 ARRB1 ARRB2 CXCL12 CXCR4 GRK3
2 clathrin-coated pit GO:0005905 8.96 ARRB1 ARRB2

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

(show all 20)
id Name GO ID Score Top Affiliating Genes
1 G-protein coupled receptor signaling pathway GO:0007186 9.77 ADRB2 ARRB1 ARRB2 CXCL12 CXCR4
2 membrane organization GO:0061024 9.65 ADRB2 ARRB1 ARRB2
3 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.59 ARRB1 ARRB2
4 chemokine-mediated signaling pathway GO:0070098 9.58 CXCL12 CXCR4
5 negative regulation of protein phosphorylation GO:0001933 9.58 ARRB1 ARRB2
6 negative regulation of NF-kappaB transcription factor activity GO:0032088 9.57 ARRB1 ARRB2
7 negative regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043154 9.56 ARRB1 ARRB2
8 cell chemotaxis GO:0060326 9.55 ARRB2 CXCL12
9 negative regulation of signal transduction GO:0009968 9.54 ARRB1 ARRB2
10 negative regulation of GTPase activity GO:0034260 9.52 ARRB1 ARRB2
11 negative regulation of protein ubiquitination GO:0031397 9.51 ARRB1 ARRB2
12 receptor internalization GO:0031623 9.49 ARRB2 GRK3
13 negative regulation of interleukin-6 production GO:0032715 9.46 ARRB1 ARRB2
14 positive regulation of receptor internalization GO:0002092 9.43 ARRB1 ARRB2
15 positive regulation of protein ubiquitination GO:0031398 9.43 ADRB2 ARRB1 ARRB2
16 G-protein coupled receptor internalization GO:0002031 9.4 ARRB1 ARRB2
17 follicle-stimulating hormone signaling pathway GO:0042699 9.32 ARRB1 ARRB2
18 signal transduction GO:0007165 9.17 ADRB2 ARRB1 ARRB2 CXCL12 CXCR4 GRK3
19 desensitization of G-protein coupled receptor protein signaling pathway by arrestin GO:0002032 9.16 ADRB2 ARRB2
20 regulation of G-protein coupled receptor protein signaling pathway GO:0008277 9.13 ARRB1 ARRB2 GRK6

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

id Name GO ID Score Top Affiliating Genes
1 ubiquitin protein ligase binding GO:0031625 9.58 ARRB1 ARRB2 CXCR4
2 G-protein coupled receptor kinase activity GO:0004703 9.37 GRK3 GRK6
3 beta-adrenergic receptor kinase activity GO:0047696 9.32 GRK3 GRK6
4 alpha-1B adrenergic receptor binding GO:0031692 9.26 ARRB1 ARRB2
5 angiotensin receptor binding GO:0031701 9.16 ARRB1 ARRB2
6 alpha-1A adrenergic receptor binding GO:0031691 8.96 ARRB1 ARRB2
7 follicle-stimulating hormone receptor binding GO:0031762 8.62 ARRB1 ARRB2

Sources for Whim Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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