WHIMS1
MCID: WHM002
MIFTS: 59

Whim Syndrome 1 (WHIMS1)

Categories: Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Infectious diseases, Rare diseases
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Aliases & Classifications for Whim Syndrome 1

MalaCards integrated aliases for Whim Syndrome 1:

Name: Whim Syndrome 1 57 73 28 5
Whim Syndrome 11 19 58 12 53 43 14 71 75
Warts, Hypogammaglobulinemia, Infections, and Myelokathexis 11 19 28 5
Whims 57 11 19 73
Warts-Hypogammaglobulinemia-Infections-Myelokathexis Syndrome 11 58
Whims1 57 73
Warts, Hypogammaglobulinemia, Infections, and Myelokathexis Syndrome 1 57
Warts, Hypogammaglobulinemia, Infections and Myelokathexis Syndrome 1 73
Warts-Infections-Leukopenia-Myelokatexis Syndrome 58
Myelokathexis, Isolated 57
Wilm 58

Characteristics:


Inheritance:

Whim Syndrome 1: Autosomal dominant 57
Whim Syndrome: Autosomal dominant,Autosomal recessive 58

Prevelance:

Whim Syndrome: <1/1000000 (Worldwide, France) 58

Age Of Onset:

Whim Syndrome: Adolescent,Adult,Childhood 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
variable expressivity
onset in infancy or early childhood


Classifications:

Orphanet: 58  
Rare immunological diseases


External Ids:

Disease Ontology 11 DOID:0060591
OMIM® 57 193670
OMIM Phenotypic Series 57 PS193670
NCIt 49 C176819
SNOMED-CT 68 234571003
MESH via Orphanet 44 C536697
ICD10 via Orphanet 32 D81.8
UMLS via Orphanet 72 C0472817
Orphanet 58 ORPHA51636
UMLS 71 C0472817

Summaries for Whim Syndrome 1

OMIM®: 57 WHIM syndrome-1 (WHIMS1) is an autosomal dominant immunologic disorder characterized by neutropenia, hypogammaglobulinemia, and warts due to 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). Heusinkveld et al. (2019) provided a detailed review of the clinical features, proposed pathogenesis, and possible therapeutic treatments of WHIM syndrome. There is significant phenotypic variation among patients, such that some individuals may have an 'incomplete' form of the disorder in which one or more of the classic tetrad features are not present. In general, the WHIMS phenotype comprises a spectrum of manifestations with variable expressivity. The pathogenesis of WHIMS1 is postulated to result from impaired CXCL12 (600835)-induced internalization of CXCR4, resulting in prolonged receptor presence at the cell surface that likely contributes to amplification of signaling with a gain-of-function effect. (193670) (Updated 08-Dec-2022)

MalaCards based summary: Whim Syndrome 1, also known as whim syndrome, is related to lymphopenia and combined immunodeficiency. An important gene associated with Whim Syndrome 1 is CXCR4 (C-X-C Motif Chemokine Receptor 4), and among its related pathways/superpathways are Signal Transduction and GPCR downstream signalling. The drugs Plerixafor and Antiviral Agents have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, bone and myeloid, and related phenotypes are lymphopenia and neutropenia

GARD: 19 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. It is caused by genetic changes in the CXCR4 gene and is inherited in an autosomal dominant manner.

Orphanet: 58 WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome is a congenital autosomal dominant immune deficiency characterized by abnormal retention of mature neutrophils in the bone marrow (myelokathexis) and occasional hypogammaglobulinemia, associated with an increased risk for bacterial infections and a susceptibility to human papillomavirus (HPV) induced lesions (cutaneous warts, genital dysplasia and invasive mucosal carcinoma).

UniProtKB/Swiss-Prot: 73 An autosomal dominant immunologic 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.

Disease Ontology: 11 An immunodeficiency disease that is characterized by neutropenia, hypogammaglobulinemia, and extensive human papillomavirus infection and that has material basis in heterozygous mutation in the CXCR4 gene on chromosome 2q22.

Wikipedia: 75 WHIM syndrome (or Warts, Hypogammaglobulinemia, Immunodeficiency, and Myelokathexis syndrome) is a rare... more...

Related Diseases for Whim Syndrome 1

Diseases in the Whim Syndrome 1 family:

Whim Syndrome 2

Diseases related to Whim Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 122)
# Related Disease Score Top Affiliating Genes
1 lymphopenia 30.5 RAC2 G6PC3 CXCR2 CCR6
2 combined immunodeficiency 30.2 RAC2 DOCK8 CXCR4 CSF3 CCR6
3 neutropenia 30.1 HAX1 G6PC3 ELANE CXCR4 CXCR2 CSF3R
4 lung disease 29.8 ELANE CXCR4 CXCR2 CCR6
5 severe combined immunodeficiency 29.6 RAC2 DOCK8 CXCR4 CXCL12 CSF3 CCR6
6 myelofibrosis 29.5 GATA2 CXCR4 CXCL12 CSF3R CSF3
7 severe congenital neutropenia 29.1 HAX1 GATA2 G6PC3 ELANE CXCR2 CSF3R
8 leukemia, acute myeloid 29.1 GATA2 CXCR4 CXCL12 CSF3R CSF3 CCR6
9 whim syndrome 2 11.2
10 agammaglobulinemia, x-linked 10.7
11 agammaglobulinemia 10.7
12 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.6
13 immune deficiency disease 10.5
14 g6pc3 deficiency 10.3 G6PC3 CXCR4
15 aids dementia complex 10.3 CXCR4 CXCL12
16 autosomal recessive severe congenital neutropenia 10.3 HAX1 G6PC3
17 coronin-1a deficiency 10.3 DOCK8 CCR6
18 severe congenital neutropenia 4 10.2 HAX1 G6PC3
19 sympathetic ophthalmia 10.2 SAG CCR6
20 aortitis 10.2 CSF3 CCR6
21 limb ischemia 10.2 CXCR4 CXCL12 CSF3
22 severe congenital neutropenia 5 10.2 HAX1 G6PC3
23 opioid abuse 10.2 SAG CCR6 ARRB2
24 chickenpox 10.2 DOCK8 CSF3 CCR6
25 immunodeficiency 11 10.2 DOCK8 CCR6
26 opportunistic mycosis 10.1 DOCK8 CSF3 CCR6
27 fungal infectious disease 10.1 DOCK8 CSF3 CCR6
28 eczema herpeticum 10.1 DOCK8 CCR6
29 leukocyte disease 10.1 CXCR4 CSF3 CCR6
30 papilloma 10.1
31 farmer's lung 10.1 ELANE CCR6
32 intraocular lymphoma 10.1 CXCR4 CXCL12
33 plasma protein metabolism disease 10.1 ELANE CXCR4 CCR6
34 hemophagocytic lymphohistiocytosis 10.1 DOCK8 CSF3 CCR6
35 otitis externa 10.1 ELANE DOCK8
36 immunodeficiency 13 10.1 TMC8 DOCK8
37 placenta praevia 10.1 ARRB2 ARRB1
38 rhabdomyosarcoma 2 10.1
39 dementia 10.1
40 cerebrovascular disease 10.1
41 hyper ige syndrome 10.1 DOCK8 CXCR2 CCR6
42 autosomal dominant severe congenital neutropenia 10.1 HAX1 G6PC3 ELANE
43 bacterial pneumonia 10.1 ELANE CSF3 CCR6
44 aneurysm, intracranial berry, 12 10.1 DOCK8 CSF3R
45 nephrogenic syndrome of inappropriate antidiuresis 10.0 SAG ARRB2 ARRB1
46 severe congenital neutropenia 7 10.0 HAX1 G6PC3 CSF3R
47 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 10.0
48 human papillomavirus infectious disease 10.0
49 thrombocytopenia 10.0
50 macroglobulinemia 10.0

Graphical network of the top 20 diseases related to Whim Syndrome 1:



Diseases related to Whim Syndrome 1

Symptoms & Phenotypes for Whim Syndrome 1

Human phenotypes related to Whim Syndrome 1:

58 30 (show all 39)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 lymphopenia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001888
2 neutropenia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001875
3 bone marrow hypercellularity 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0031020
4 abnormality of neutrophil morphology 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0011992
5 myelokathexis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0031160
6 recurrent upper respiratory tract infections 58 30 Frequent (33%) Frequent (79-30%)
HP:0002788
7 recurrent pneumonia 58 30 Frequent (33%) Frequent (79-30%)
HP:0006532
8 verrucae 58 30 Frequent (33%) Frequent (79-30%)
HP:0200043
9 recurrent bacterial infections 58 30 Frequent (33%) Frequent (79-30%)
HP:0002718
10 decreased circulating antibody level 30 Frequent (33%) HP:0004313
11 neurological speech impairment 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002167
12 sinusitis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000246
13 bronchiectasis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002110
14 tetralogy of fallot 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001636
15 otitis media 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000388
16 cervix cancer 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0030079
17 poor fine motor coordination 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007010
18 postural instability 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002172
19 limb ataxia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002070
20 abnormality of the small intestine 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002244
21 pharyngitis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0025439
22 seizure 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001250
23 vitiligo 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001045
24 atelectasis 58 30 Very rare (1%) Very rare (<4-1%)
HP:0100750
25 cellulitis 58 30 Very rare (1%) Very rare (<4-1%)
HP:0100658
26 meningitis 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001287
27 sepsis 58 30 Very rare (1%) Very rare (<4-1%)
HP:0100806
28 cutaneous melanoma 58 30 Very rare (1%) Very rare (<4-1%)
HP:0012056
29 severe periodontitis 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000166
30 parotitis 58 30 Very rare (1%) Very rare (<4-1%)
HP:0011850
31 lymphadenitis 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002840
32 decreased antibody level in blood 58 Frequent (79-30%)
33 abnormal morphology of female internal genitalia 30 HP:0000008
34 papilloma 58 Frequent (79-30%)
35 abnormality of bone marrow cell morphology 30 HP:0005561
36 abnormality of female external genitalia 30 HP:0000055
37 pneumonia 58 Frequent (79-30%)
38 respiratory tract infection 58 Frequent (79-30%)
39 decreased circulating igg level 30 HP:0004315

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Respiratory Lung:
bronchiectasis
chronic obstructive pulmonary disease

Cardiovascular Heart:
tetralogy of fallot
congenital heart defects (in some patients)
septal defects
conotruncal defects
aortic defects

Respiratory:
recurrent infections

Genitourinary External Genitalia Female:
vulval condylomata acuminata

Skin Nails Hair Skin:
verrucae (warts), multiple

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

Neoplasia:
lymphoma
hpv-related carcinoma

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 Internal Genitalia Female:
cervical papillomatosis with cervical dysplasia

Clinical features from OMIM®:

193670 (Updated 08-Dec-2022)

GenomeRNAi Phenotypes related to Whim Syndrome 1 according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.17 ACKR3 ARRB1 ARRB2 CCR6 CSF3 CSF3R
2 no effect GR00402-S-2 10.17 ARRB1 ARRB2 CCR6 CSF3 CSF3R CXCL12

MGI Mouse Phenotypes related to Whim Syndrome 1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.03 ACKR3 ARRB1 ARRB2 CCR6 CSF3R CXCL12
2 homeostasis/metabolism MP:0005376 10 ACKR3 ARRB1 ARRB2 CCR6 CXCR2 CXCR4
3 immune system MP:0005387 9.86 ACKR3 ARRB2 CCR6 CSF3 CSF3R CXCL12
4 hematopoietic system MP:0005397 9.58 ACKR3 ARRB1 ARRB2 CCR6 CSF3 CSF3R

Drugs & Therapeutics for Whim Syndrome 1

Drugs for Whim Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Plerixafor Approved Phase 1, Phase 2 110078-46-1 65015
2 Antiviral Agents Phase 1, Phase 2
3 Anti-Retroviral Agents Phase 1, Phase 2
4 Anti-Infective Agents Phase 1, Phase 2
5 Anti-HIV Agents Phase 1, Phase 2
6 Hormones

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase III Double-Blind Randomized Crossover Study of Plerixafor Versus G-CSF in the Treatment of Patients With WHIM Syndrome. Completed NCT02231879 Phase 2, Phase 3 Plerixafor;G-CSF
2 A Phase 3, Randomized, Double-Blind, Placebo-Controlled, Multicenter Study of Mavorixafor in Patients With WHIM Syndrome With Open-Label Extension Active, not recruiting NCT03995108 Phase 3 Mavorixafor;Placebo
3 A Phase I Study of MozobilTM in the Treatment of Patients With WHIMS Recruiting NCT00967785 Phase 1, Phase 2 Mozobil (TM)
4 A Phase 2, Open-Label, Multi-Center Trial of Mavorixafor in Patients With WHIM Syndrome Active, not recruiting NCT03005327 Phase 2 X4P-001
5 Effects of Hormone Therapy on Subclinical Neurological Pathology-The WHIMS-MRI Collaborative Study Completed NCT00739869
6 A Retrospective and Prospective Natural History Study of Patients With WHIM Syndrome Withdrawn NCT03087370

Search NIH Clinical Center for Whim Syndrome 1

Cochrane evidence based reviews: whim syndrome

Genetic Tests for Whim Syndrome 1

Genetic tests related to Whim Syndrome 1:

# Genetic test Affiliating Genes
1 Warts, Hypogammaglobulinemia, Infections, and Myelokathexis 28
2 Whim Syndrome 1 28

Anatomical Context for Whim Syndrome 1

Organs/tissues related to Whim Syndrome 1:

MalaCards : Bone Marrow, Bone, Myeloid, Small Intestine, Cervix, Neutrophil, Lung
ODiseA: Blood And Bone Marrow, Respiratory System-Lung, Respiratory System

Publications for Whim Syndrome 1

Articles related to Whim Syndrome 1:

(show top 50) (show all 346)
# Title Authors PMID Year
1
CXCR4 dimerization and beta-arrestin-mediated signaling account for the enhanced chemotaxis to CXCL12 in WHIM syndrome. 53 62 57 5
18436740 2008
2
WHIM syndromes with different genetic anomalies are accounted for by impaired CXCR4 desensitization to CXCL12. 53 62 57 5
15536153 2005
3
Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunodeficiency disease. 53 62 57 5
12692554 2003
4
WHIM Syndrome: from Pathogenesis Towards Personalized Medicine and Cure. 62 57 5
31313072 2019
5
Chromothriptic cure of WHIM syndrome. 62 57 5
25662009 2015
6
Description and outcome of a cohort of 8 patients with WHIM syndrome from the French Severe Chronic Neutropenia Registry. 62 57 5
23009155 2012
7
Altered leukocyte response to CXCL12 in patients with warts hypogammaglobulinemia, infections, myelokathexis (WHIM) syndrome. 53 62 5
15026312 2004
8
Abnormal Newborn Screen in a WHIM Syndrome Infant. 62 5
31493092 2019
9
Plerixafor for the Treatment of WHIM Syndrome. 62 57
30625055 2019
10
The CXCR4 mutations in WHIM syndrome impair the stability of the T-cell immunologic synapse. 62 5
23794067 2013
11
Impaired recruitment of Grk6 and beta-Arrestin 2 causes delayed internalization and desensitization of a WHIM syndrome-associated CXCR4 mutant receptor. 62 5
19956569 2009
12
Leukocyte analysis from WHIM syndrome patients reveals a pivotal role for GRK3 in CXCR4 signaling. 62 57
18274673 2008
13
WHIM syndrome, an autosomal dominant disorder: clinical, hematological, and molecular studies. 62 57
10767001 2000
14
Dizygotic twin sisters with myelokathexis: mechanism of its neutropenia. 57
10509006 1999
15
A new familial immunodeficiency disorder characterized by severe neutropenia, a defective marrow release mechanism, and hypogammaglobulinemia. 57
2239986 1990
16
An unusual form of chronic neutropenia in a father and daughter with hypogammaglobulinaemia. 57
889707 1977
17
'Myelokathexis'. Neutropenia with marrow hyperplasia. 57
868817 1977
18
CHRONIC IDIOPATHIC GRANULOCYTOPENIA. 57
14122792 1964
19
"MYELOKATHEXIS"--A NEW FORM OF CHRONIC GRANULOCYTOPENIA. REPORT OF A CASE. 57
14101065 1964
20
Site-specific phosphorylation of CXCR4 is dynamically regulated by multiple kinases and results in differential modulation of CXCR4 signaling. 53 62
20048153 2010
21
A case of WHIM syndrome associated with diabetes and hypothyroidism. 53 62
19476565 2009
22
Familial occurrence of warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome. 53 62
19043667 2008
23
Small neutralizing molecules to inhibit actions of the chemokine CXCL12. 53 62
18556651 2008
24
[The Whim syndrome: a rare cause of diffuse bronchiectasis. Immune defect of CXCR4 and chronic bronchial suppuration]. 53 62
18535531 2008
25
Regulation of CXCR4 signaling. 53 62
17169327 2007
26
Recurrent CXCR4 sequence variation in a girl with WHIM syndrome. 53 62
17087743 2007
27
WHIM syndrome myelokathexis reproduced in the NOD/SCID mouse xenotransplant model engrafted with healthy human stem cells transduced with C-terminus-truncated CXCR4. 53 62
16946301 2007
28
Stromal-derived factor-1 abolishes constitutive apoptosis of WHIM syndrome neutrophils harbouring a truncating CXCR4 mutation. 53 62
16899028 2006
29
WHIM syndrome: a defect in CXCR4 signaling. 53 62
16091205 2005
30
The role of a mutation of the CXCR4 gene in WHIM syndrome. 53 62
16154852 2005
31
Enhanced function with decreased internalization of carboxy-terminus truncated CXCR4 responsible for WHIM syndrome. 53 62
15781337 2005
32
CXCR4 mutations in WHIM syndrome: a misguided immune system? 53 62
15661033 2005
33
WHIM syndrome: a genetic disorder of leukocyte trafficking. 53 62
14612668 2003
34
The relationship between depressive symptoms and subtypes of mild cognitive impairment in post-menopausal women: Results from the Women's Health Initiative Memory Study. 62
36205005 2022
35
Disease Progression of WHIM Syndrome in an International Cohort of 66 Pediatric and Adult Patients. 62
35947323 2022
36
Cost-Effectiveness, Incompleteness, and Discrimination. 62
36330813 2022
37
Development and evaluation of triple gene transgenic cotton lines expressing three genes (Cry1Ac-Cry2Ab-EPSPS) for lepidopteran insect pests and herbicide tolerance. 62
36319662 2022
38
Takayasu's Arteritis in Pregnancy: A Rare Case Report. 62
36225437 2022
39
Dysregulated stem cell niches and altered lymphocyte recirculation cause B and T cell lymphopenia in WHIM syndrome. 62
36149943 2022
40
Genotype-phenotype correlations in WHIM syndrome: a systematic characterization of CXCR4WHIM variants. 62
36089616 2022
41
A Sherlock Approach to a Kindred With a Variable Immunohematologic Phenotype. 62
35470097 2022
42
Correction to: Dexamethasone Treatment for COVID-19-Related Lung Injury in an Adult with WHIM Syndrome. 62
35355161 2022
43
Clinical and Hematologic Effects of Endotoxin in Warts, Hypogammaglobulinemia, Infections, and Myelokathexis Syndrome Model Mice. 62
35882421 2022
44
Adherence to MIND Diet, Genetic Susceptibility, and Incident Dementia in Three US Cohorts. 62
35807939 2022
45
Ambient air pollution exposure and increasing depressive symptoms in older women: The mediating role of the prefrontal cortex and insula. 62
35122843 2022
46
The relationship between optimism, MCI, and dementia among postmenopausal women. 62
35694859 2022
47
Can we identify WHIM in infancy? Opportunities with the public newborn screening process. 62
36210583 2022
48
Altered CXCR4 dynamics at the cell membrane impairs directed cell migration in WHIM syndrome patients. 62
35588454 2022
49
Desmoplastic Small Round Cell Tumors With EWS-WT1 Transcript Expression: Should We Consider Children and Adult Patients Differently? 62
34310472 2022
50
Consideration of underlying immunodeficiency in refractory or recalcitrant warts: A review of the literature. 62
35665206 2022

Variations for Whim Syndrome 1

ClinVar genetic disease variations for Whim Syndrome 1:

5 (show top 50) (show all 87)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CXCR4 NM_003467.3(CXCR4):c.1016_1017del (p.Ser339fs) DEL Pathogenic
Likely Pathogenic
14021 rs730880320 GRCh37: 2:136872481-136872482
GRCh38: 2:136114911-136114912
2 CXCR4 NM_003467.3(CXCR4):c.969dup (p.Ser324fs) DUP Pathogenic
Uncertain Significance
1036381 rs1684840786 GRCh37: 2:136872528-136872529
GRCh38: 2:136114958-136114959
3 CXCR4 NM_003467.3(CXCR4):c.1006G>T (p.Gly336Ter) SNV Pathogenic
1453229 GRCh37: 2:136872492-136872492
GRCh38: 2:136114922-136114922
4 CXCR4 NM_003467.3(CXCR4):c.1000C>T (p.Arg334Ter) SNV Pathogenic
Pathogenic
14020 rs104893624 GRCh37: 2:136872498-136872498
GRCh38: 2:136114928-136114928
5 CXCR4 NM_003467.3(CXCR4):c.1013C>G (p.Ser338Ter) SNV Pathogenic
Pathogenic
14023 rs104893626 GRCh37: 2:136872485-136872485
GRCh38: 2:136114915-136114915
6 CXCR4 NM_003467.3(CXCR4):c.1027G>T (p.Glu343Ter) SNV Pathogenic
14022 rs104893625 GRCh37: 2:136872471-136872471
GRCh38: 2:136114901-136114901
7 CXCR4 NM_003467.3(CXCR4):c.959_960del (p.Val320fs) MICROSAT Likely Pathogenic
1067193 GRCh37: 2:136872538-136872539
GRCh38: 2:136114968-136114969
8 CXCR4 NM_003467.3(CXCR4):c.1025_1028del (p.Thr342fs) DEL Likely Pathogenic
1319371 GRCh37: 2:136872470-136872473
GRCh38: 2:136114900-136114903
9 CXCR4 NM_003467.3(CXCR4):c.893_1034dup (p.Glu345_Ser346insProHisProLeuCysPheProTrpSerGlnIleTer) DUP Likely Pathogenic
1513755 GRCh37: 2:136872463-136872464
GRCh38: 2:136114893-136114894
10 CXCR4 NM_003467.3(CXCR4):c.1013C>A (p.Ser338Ter) SNV Likely Pathogenic
1685294 GRCh37: 2:136872485-136872485
GRCh38: 2:136114915-136114915
11 CXCR4 NM_003467.3(CXCR4):c.994G>T (p.Gly332Ter) SNV Likely Pathogenic
574352 rs1240625960 GRCh37: 2:136872504-136872504
GRCh38: 2:136114934-136114934
12 CXCR4 NM_003467.3(CXCR4):c.250G>A (p.Asp84Asn) SNV Uncertain Significance
653935 rs368016542 GRCh37: 2:136873248-136873248
GRCh38: 2:136115678-136115678
13 CXCR4 NM_003467.3(CXCR4):c.478G>A (p.Val160Ile) SNV Uncertain Significance
660916 rs147198552 GRCh37: 2:136873020-136873020
GRCh38: 2:136115450-136115450
14 CXCR4 NM_003467.3(CXCR4):c.704G>A (p.Arg235His) SNV Uncertain Significance
663673 rs377287446 GRCh37: 2:136872794-136872794
GRCh38: 2:136115224-136115224
15 CXCR4 NM_003467.3(CXCR4):c.928A>G (p.Lys310Glu) SNV Uncertain Significance
855157 rs1684843543 GRCh37: 2:136872570-136872570
GRCh38: 2:136115000-136115000
16 CXCR4 NM_003467.3(CXCR4):c.1022C>A (p.Ser341Tyr) SNV Uncertain Significance
855700 rs148454403 GRCh37: 2:136872476-136872476
GRCh38: 2:136114906-136114906
17 CXCR4 NM_003467.3(CXCR4):c.19T>C (p.Tyr7His) SNV Uncertain Significance
941105 rs560844176 GRCh37: 2:136873479-136873479
GRCh38: 2:136115909-136115909
18 CXCR4 NM_003467.3(CXCR4):c.1054A>G (p.Ser352Gly) SNV Uncertain Significance
946873 rs750756138 GRCh37: 2:136872444-136872444
GRCh38: 2:136114874-136114874
19 CXCR4 NM_003467.3(CXCR4):c.973A>G (p.Ser325Gly) SNV Uncertain Significance
958354 rs1684840650 GRCh37: 2:136872525-136872525
GRCh38: 2:136114955-136114955
20 CXCR4 NM_003467.3(CXCR4):c.650C>A (p.Ser217Tyr) SNV Uncertain Significance
1011023 rs1406988415 GRCh37: 2:136872848-136872848
GRCh38: 2:136115278-136115278
21 CXCR4 NM_003467.3(CXCR4):c.338A>C (p.His113Pro) SNV Uncertain Significance
1021376 rs1684862940 GRCh37: 2:136873160-136873160
GRCh38: 2:136115590-136115590
22 CXCR4 NM_003467.3(CXCR4):c.586G>A (p.Val196Met) SNV Uncertain Significance
1024744 rs748098105 GRCh37: 2:136872912-136872912
GRCh38: 2:136115342-136115342
23 CXCR4 NM_003467.3(CXCR4):c.661A>C (p.Ile221Leu) SNV Uncertain Significance
1034808 rs1684851586 GRCh37: 2:136872837-136872837
GRCh38: 2:136115267-136115267
24 CXCR4 NM_003467.3(CXCR4):c.871G>A (p.Ala291Thr) SNV Uncertain Significance
1058395 GRCh37: 2:136872627-136872627
GRCh38: 2:136115057-136115057
25 CXCR4 NM_003467.3(CXCR4):c.804A>T (p.Glu268Asp) SNV Uncertain Significance
1498500 GRCh37: 2:136872694-136872694
GRCh38: 2:136115124-136115124
26 CXCR4 NM_003467.3(CXCR4):c.235C>T (p.His79Tyr) SNV Uncertain Significance
1516467 GRCh37: 2:136873263-136873263
GRCh38: 2:136115693-136115693
27 CXCR4 NM_003467.3(CXCR4):c.946G>A (p.Ala316Thr) SNV Uncertain Significance
1518647 GRCh37: 2:136872552-136872552
GRCh38: 2:136114982-136114982
28 CXCR4 NM_003467.3(CXCR4):c.132del (p.Tyr45fs) DEL Uncertain Significance
863531 rs1684870931 GRCh37: 2:136873366-136873366
GRCh38: 2:136115796-136115796
29 CXCR4 NM_003467.3(CXCR4):c.282G>A (p.Trp94Ter) SNV Uncertain Significance
1394984 GRCh37: 2:136873216-136873216
GRCh38: 2:136115646-136115646
30 CXCR4 NM_003467.3(CXCR4):c.1014del (p.Ser339fs) DEL Uncertain Significance
1393639 GRCh37: 2:136872484-136872484
GRCh38: 2:136114914-136114914
31 CXCR4 NM_003467.3(CXCR4):c.814C>T (p.Gln272Ter) SNV Uncertain Significance
1412077 GRCh37: 2:136872684-136872684
GRCh38: 2:136115114-136115114
32 CXCR4 NC_000002.11:g.(?_136872439)_(136875630_?)dup DUP Uncertain Significance
1443509 GRCh37: 2:136872439-136875630
GRCh38:
33 CXCR4 NM_003467.3(CXCR4):c.345C>G (p.Ile115Met) SNV Uncertain Significance
1450988 GRCh37: 2:136873153-136873153
GRCh38: 2:136115583-136115583
34 CXCR4 NM_003467.3(CXCR4):c.727A>C (p.Ile243Leu) SNV Uncertain Significance
644782 rs762937679 GRCh37: 2:136872771-136872771
GRCh38: 2:136115201-136115201
35 overlap with 3 genes NC_000002.12:g.(?_135950413)_(136118080_?)del DEL Uncertain Significance
650197 GRCh37: 2:136707983-136875650
GRCh38: 2:135950413-136118080
36 overlap with 2 genes NC_000002.12:g.(?_135950413)_(136118080_?)dup DUP Uncertain Significance
831169 GRCh37: 2:136707983-136875650
GRCh38:
37 CXCR4 NM_003467.3(CXCR4):c.373C>G (p.Leu125Val) SNV Uncertain Significance
973636 rs1001278766 GRCh37: 2:136873125-136873125
GRCh38: 2:136115555-136115555
38 CXCR4 NM_003467.3(CXCR4):c.137C>G (p.Ser46Cys) SNV Uncertain Significance
1337142 GRCh37: 2:136873361-136873361
GRCh38: 2:136115791-136115791
39 CXCR4 NM_003467.3(CXCR4):c.748G>A (p.Ala250Thr) SNV Uncertain Significance
1398598 GRCh37: 2:136872750-136872750
GRCh38: 2:136115180-136115180
40 CXCR4 NM_003467.3(CXCR4):c.1000C>G (p.Arg334Gly) SNV Uncertain Significance
1396800 GRCh37: 2:136872498-136872498
GRCh38: 2:136114928-136114928
41 CXCR4 NM_003467.3(CXCR4):c.963dup (p.Arg322fs) DUP Uncertain Significance
1390084 GRCh37: 2:136872534-136872535
GRCh38: 2:136114964-136114965
42 CXCR4 NM_003467.3(CXCR4):c.752G>T (p.Cys251Phe) SNV Uncertain Significance
1424509 GRCh37: 2:136872746-136872746
GRCh38: 2:136115176-136115176
43 CXCR4 NM_003467.3(CXCR4):c.831G>C (p.Glu277Asp) SNV Uncertain Significance
1424536 GRCh37: 2:136872667-136872667
GRCh38: 2:136115097-136115097
44 CXCR4 NM_003467.3(CXCR4):c.1042A>G (p.Ser348Gly) SNV Uncertain Significance
1362599 GRCh37: 2:136872456-136872456
GRCh38: 2:136114886-136114886
45 CXCR4 NM_003467.3(CXCR4):c.10A>G (p.Ile4Val) SNV Uncertain Significance
1462740 GRCh37: 2:136875621-136875621
GRCh38: 2:136118051-136118051
46 CXCR4 NM_003467.3(CXCR4):c.560A>G (p.Asp187Gly) SNV Uncertain Significance
1473690 GRCh37: 2:136872938-136872938
GRCh38: 2:136115368-136115368
47 CXCR4 NM_003467.3(CXCR4):c.1025_1026del (p.Thr342fs) DEL Uncertain Significance
1494228 GRCh37: 2:136872472-136872473
GRCh38: 2:136114902-136114903
48 CXCR4 NM_003467.3(CXCR4):c.582G>C (p.Leu194Phe) SNV Uncertain Significance
624148 rs769772228 GRCh37: 2:136872916-136872916
GRCh38: 2:136115346-136115346
49 CXCR4 NM_003467.3(CXCR4):c.506T>C (p.Ile169Thr) SNV Uncertain Significance
665616 rs371317659 GRCh37: 2:136872992-136872992
GRCh38: 2:136115422-136115422
50 CXCR4 NM_003467.3(CXCR4):c.250G>C (p.Asp84His) SNV Uncertain Significance
808804 rs368016542 GRCh37: 2:136873248-136873248
GRCh38: 2:136115678-136115678

Expression for Whim Syndrome 1

Search GEO for disease gene expression data for Whim Syndrome 1.

Pathways for Whim Syndrome 1

Pathways related to Whim Syndrome 1 according to GeneCards Suite gene sharing:

(show all 15)
# Super pathways Score Top Affiliating Genes
1 13.41 RAC2 GRK6 GRK3 DOCK8 CXCR4 CXCR2
2
Show member pathways
13.3 ACKR3 ARRB1 ARRB2 CCR6 CXCL12 CXCR2
3
Show member pathways
13.2 RAC2 CXCR4 CXCR2 CXCL12 CSF3R CSF3
4
Show member pathways
13.07 RAC2 CXCR4 CXCR2 CXCL12 CSF3R CSF3
5 12.36 GRK6 GATA2 CXCR4 CXCL12
6
Show member pathways
12.32 GRK6 ARRB2 ARRB1 ACKR3
7
Show member pathways
12.26 GRK6 GRK3 ARRB2 ARRB1
8
Show member pathways
12.01 RAC2 GRK6 GRK3 CXCR4 CXCR2 CXCL12
9
Show member pathways
11.94 GRK6 GRK3 ARRB2 ARRB1
10 11.58 GRK6 GRK3 ARRB2 ARRB1
11 11.55 CXCL12 CXCR2 CXCR4
12 11.47 GATA2 CXCR4 CXCL12
13
Show member pathways
11.46 CXCR4 CXCR2 CXCL12 CCR6 ACKR3
14 11.21 GRK6 CXCR4 CXCL12 ARRB2
15 11.2 GRK3 ARRB2 ARRB1

GO Terms for Whim Syndrome 1

Cellular components related to Whim Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasmic vesicle GO:0031410 9.65 RAC2 HAX1 ELANE CXCR4 ARRB2 ARRB1
2 external side of plasma membrane GO:0009897 9.4 CXCR4 CXCR2 CXCL12 CSF3R CCR6 ACKR3

Biological processes related to Whim Syndrome 1 according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 G protein-coupled receptor signaling pathway GO:0007186 10.38 ACKR3 ARRB2 CCR6 CXCL12 CXCR2 CXCR4
2 immune response GO:0006955 10.34 CXCR4 CXCR2 CXCL12 CSF3 CCR6 ACKR3
3 calcium-mediated signaling GO:0019722 10.11 ACKR3 CCR6 CXCR2 CXCR4
4 positive regulation of cytosolic calcium ion concentration GO:0007204 10.1 ACKR3 CCR6 CXCR2 CXCR4 GATA2
5 cellular response to cytokine stimulus GO:0071345 10.01 HAX1 CXCR4 CSF3
6 signal transduction GO:0007165 9.96 SAG RAC2 GRK6 GRK3 CXCR4 CXCR2
7 detection of temperature stimulus involved in sensory perception of pain GO:0050965 9.93 CXCR4 CXCL12 ARRB2
8 receptor internalization GO:0031623 9.92 GRK3 CXCR2 ARRB2 ACKR3
9 dendritic cell chemotaxis GO:0002407 9.91 CXCR4 CXCR2 CCR6
10 chemokine-mediated signaling pathway GO:0070098 9.91 CXCR4 CXCR2 CXCL12 CCR6 ACKR3
11 acute inflammatory response to antigenic stimulus GO:0002438 9.87 ELANE CXCR2
12 telencephalon cell migration GO:0022029 9.85 CXCR4 CXCL12
13 G protein-coupled receptor internalization GO:0002031 9.85 SAG ARRB2 ARRB1
14 positive regulation of mesenchymal stem cell migration GO:1905322 9.83 CXCR4 ACKR3
15 chemotaxis GO:0006935 9.81 ACKR3 CCR6 CXCL12 CXCR2 CXCR4 RAC2
16 response to ultrasound GO:1990478 9.8 CXCR4 CXCL12
17 cell chemotaxis GO:0060326 9.4 CXCR4 CXCR2 CXCL12 CCR6 ARRB2 ACKR3

Molecular functions related to Whim Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 G protein-coupled receptor binding GO:0001664 9.86 ARRB1 ARRB2 GRK3 SAG
2 cytokine binding GO:0019955 9.85 ELANE CXCR4 CSF3R
3 arrestin family protein binding GO:1990763 9.78 ARRB2 ARRB1
4 G protein-coupled receptor kinase activity GO:0004703 9.73 GRK6 GRK3
5 beta-adrenergic receptor kinase activity GO:0047696 9.71 GRK6 GRK3
6 angiotensin receptor binding GO:0031701 9.67 ARRB2 ARRB1
7 C-X-C chemokine receptor activity GO:0016494 9.63 CXCR4 CXCR2 ACKR3
8 chemokine receptor activity GO:0004950 9.62 CXCR4 CXCR2 CCR6
9 C-C chemokine binding GO:0019957 9.56 CXCR4 CXCR2 CCR6 ACKR3
10 C-C chemokine receptor activity GO:0016493 9.23 CXCR4 CXCR2 CCR6 ACKR3

Sources for Whim Syndrome 1

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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