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WHIMS
MCID: WHM001
MIFTS: 61

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 56 12 52 58 73 13 54 43 15 71
Warts, Hypogammaglobulinemia, Infections, and Myelokathexis 12 52 29 6 39
Whims 56 12 52 73
Warts-Hypogammaglobulinemia-Infections-Myelokathexis Syndrome 12 58
Warts, Hypogammaglobulinemia, Infections, and Myelokathexis Syndrome 56
Warts, Hypogammaglobulinemia, Infections and Myelokathexis 73
Warts-Infections-Leukopenia-Myelokatexis Syndrome 58
Wilm 58

Characteristics:

Orphanet epidemiological data:

58
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:

56
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy or early childhood


HPO:

31
whim syndrome:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Blood diseases Immune diseases Bone diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare immunological diseases


Sources

Summaries for Whim Syndrome

About this section
NIH Rare Diseases : 52 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.

MalaCards based summary : Whim Syndrome, also known as warts, hypogammaglobulinemia, infections, and myelokathexis, is related to lymphoplasmacytic lymphoma and neutropenia. 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 Neuroscience. The drugs Antiviral Agents and Anti-HIV 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

Disease Ontology : 12 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.

OMIM : 56 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 : 73 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 : 74 WHIM Syndrome (or Warts, Hypogammaglobulinemia, Immunodeficiency, and Myelokathexis syndrome) is a rare... more...

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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 800)
# Related Disease Score Top Affiliating Genes
1 lymphoplasmacytic lymphoma 30.6 CXCR4 CXCL12 ACKR3
2 neutropenia 30.3 HAX1 G6PC3 ELANE CXCR4 CSF3
3 leukemia, acute lymphoblastic 29.8 GATA2 CXCR4 CXCL12 CSF3 CCR6
4 severe congenital neutropenia 29.6 HAX1 G6PC3 ELANE CXCR4 CSF3
5 myelofibrosis 29.5 GATA2 CXCR4 CXCL12 CSF3
6 adult respiratory distress syndrome 29.3 ELANE CSF3 ADRB2
7 pulmonary fibrosis, idiopathic 29.3 ELANE CXCR4 CXCR2 CXCL12 CCR6
8 severe combined immunodeficiency 29.3 CXCR4 CXCL12 CSF3 CCR6
9 hematologic cancer 29.2 GATA2 CXCR4 CXCL12 CSF3 CCR6
10 lung disease 29.2 ELANE CXCR4 CXCR2 CSF3 ADRB2
11 pulmonary disease, chronic obstructive 28.9 ELANE CXCR2 CCR6 ADRB2
12 asthma 28.2 ELANE CXCR4 CXCR2 CXCL12 CSF3 CCR6
13 wilms tumor 5 12.9
14 wilms tumor 1 12.8
15 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 12.8
16 wilms tumor 6 12.6
17 hereditary wilms' tumor 12.6
18 cervical wilms' tumor 12.5
19 global developmental delay, lung cysts, overgrowth, and wilms tumor 12.5
20 wilms tumor 4 12.4
21 wilms tumor 2 12.4
22 epithelial predominant wilms' tumor 12.4
23 stromal predominant kidney wilms' tumor 12.4
24 blastema predominant kidney wilms' tumor 12.4
25 renal wilms' tumor 12.4
26 perlman syndrome 12.4
27 denys-drash syndrome 12.4
28 wilms tumor 3 12.4
29 ovarian wilms' cancer 12.3
30 familial wilms tumor 2 12.3
31 wilms tumor predisposition 12.3
32 wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome 12.2
33 mixed cell type kidney wilms' tumor 12.2
34 metachronous kidney wilms' tumor 12.2
35 frasier syndrome 11.7
36 beckwith-wiedemann syndrome 11.7
37 aniridia 1 11.7
38 simpson-golabi-behmel syndrome 11.6
39 mulibrey nanism 11.6
40 hyperparathyroidism 2 with jaw tumors 11.6
41 mosaic variegated aneuploidy syndrome 1 11.6
42 mosaic variegated aneuploidy syndrome 3 11.6
43 mosaic variegated aneuploidy syndrome 11.6
44 hemihyperplasia, isolated 11.5
45 rhabdoid tumor predisposition syndrome 1 11.5
46 rhabdoid cancer 11.5
47 metanephric adenoma 11.5
48 li-fraumeni syndrome 11.4
49 li-fraumeni syndrome 2 11.4
50 bohring-opitz syndrome 11.4

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:

58 31 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 lymphopenia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001888
2 neutropenia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001875
3 bone marrow hypercellularity 58 31 hallmark (90%) Very frequent (99-80%) HP:0031020
4 abnormality of neutrophil morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0011992
5 myelokathexis 58 31 hallmark (90%) Very frequent (99-80%) HP:0031160
6 recurrent upper respiratory tract infections 58 31 frequent (33%) Frequent (79-30%) HP:0002788
7 recurrent pneumonia 58 31 frequent (33%) Frequent (79-30%) HP:0006532
8 verrucae 58 31 frequent (33%) Frequent (79-30%) HP:0200043
9 recurrent bacterial infections 58 31 frequent (33%) Frequent (79-30%) HP:0002718
10 decreased circulating antibody level 31 frequent (33%) HP:0004313
11 neurological speech impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0002167
12 sinusitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000246
13 tetralogy of fallot 58 31 occasional (7.5%) Occasional (29-5%) HP:0001636
14 otitis media 58 31 occasional (7.5%) Occasional (29-5%) HP:0000388
15 cervix cancer 58 31 occasional (7.5%) Occasional (29-5%) HP:0030079
16 bronchiectasis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002110
17 poor fine motor coordination 58 31 occasional (7.5%) Occasional (29-5%) HP:0007010
18 postural instability 58 31 occasional (7.5%) Occasional (29-5%) HP:0002172
19 limb ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002070
20 abnormality of the small intestine 58 31 occasional (7.5%) Occasional (29-5%) HP:0002244
21 pharyngitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0025439
22 vitiligo 58 31 very rare (1%) Very rare (<4-1%) HP:0001045
23 atelectasis 58 31 very rare (1%) Very rare (<4-1%) HP:0100750
24 cellulitis 58 31 very rare (1%) Very rare (<4-1%) HP:0100658
25 meningitis 58 31 very rare (1%) Very rare (<4-1%) HP:0001287
26 sepsis 58 31 very rare (1%) Very rare (<4-1%) HP:0100806
27 cutaneous melanoma 58 31 very rare (1%) Very rare (<4-1%) HP:0012056
28 severe periodontitis 58 31 very rare (1%) Very rare (<4-1%) HP:0000166
29 parotitis 58 31 very rare (1%) Very rare (<4-1%) HP:0011850
30 lymphadenitis 58 31 very rare (1%) Very rare (<4-1%) HP:0002840
31 seizure 31 very rare (1%) HP:0001250
32 seizures 58 Very rare (<4-1%)
33 decreased antibody level in blood 58 Frequent (79-30%)
34 papilloma 58 Frequent (79-30%)
35 abnormality of bone marrow cell morphology 31 HP:0005561
36 abnormality of female external genitalia 31 HP:0000055
37 pneumonia 58 Frequent (79-30%)
38 respiratory tract infection 58 Frequent (79-30%)
39 decreased circulating igg level 31 HP:0004315
40 abnormal morphology of female internal genitalia 31 HP:0000008

Symptoms via clinical synopsis from OMIM:

56
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

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

26 (show all 14)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 10.05 GRK3
2 Decreased viability GR00221-A-1 10.05 GRK3
3 Decreased viability GR00221-A-2 10.05 GRK3
4 Decreased viability GR00221-A-3 10.05 GRK6
5 Decreased viability GR00221-A-4 10.05 GRK3
6 Decreased viability GR00249-S 10.05 ACKR3 G6PC3 HAX1
7 Decreased viability GR00301-A 10.05 GRK3 GRK6
8 Decreased viability GR00342-S-2 10.05 ADRB2
9 Decreased viability GR00342-S-3 10.05 ADRB2
10 Decreased viability GR00381-A-1 10.05 ADRB2 ARRB1 CXCR4 DOCK8 GRK6
11 Decreased viability GR00381-A-3 10.05 ADRB2
12 Decreased viability GR00386-A-1 10.05 APOE CSF3 CXCR2 GATA2
13 Decreased viability GR00402-S-2 10.05 ACKR3 CXCR4 G6PC3
14 Increased the percentage of infected cells GR00402-S-1 8.32 ADRB2

MGI Mouse Phenotypes related to Whim Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.33 ACKR3 ADRB2 APOE ARRB1 ARRB2 CCR6
2 homeostasis/metabolism MP:0005376 10.21 ACKR3 ADRB2 APOE ARRB1 ARRB2 CCR6
3 immune system MP:0005387 10.2 ACKR3 ADRB2 APOE ARRB2 CCR6 CSF3
4 cellular MP:0005384 10.17 ADRB2 APOE ARRB1 ARRB2 CXCL12 CXCR2
5 cardiovascular system MP:0005385 10.16 ACKR3 ADRB2 APOE ARRB1 CCR6 CXCL12
6 mortality/aging MP:0010768 10.07 ACKR3 APOE ARRB1 ARRB2 CXCL12 CXCR2
7 nervous system MP:0003631 10 ACKR3 ADRB2 APOE ARRB1 ARRB2 CCR6
8 renal/urinary system MP:0005367 9.5 APOE CSF3 CXCR2 CXCR4 ESR2 GATA2
9 respiratory system MP:0005388 9.17 ACKR3 APOE ARRB1 ARRB2 CXCR2 CXCR4
Sources

Drugs & Therapeutics for Whim Syndrome

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

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

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 A Phase 3, Randomized, Double-Blind, Placebo-Controlled, Multicenter Study of Mavorixafor in Patients With WHIM Syndrome With Open-Label Extension Recruiting NCT03995108 Phase 3 Mavorixafor;Placebo
2 A Phase III Double-Blind Randomized Crossover Study of Plerixafor Versus G-CSF in the Treatment of Patients With WHIM Syndrome. Active, not recruiting NCT02231879 Phase 2, Phase 3 Plerixafor;G-CSF
3 A Phase I Study of Mozobil (TM) 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 A Phase I Study of the CXCR-4 Inhibitor AMD3100 for the Treatment of Neutropenia Due to Mutations of CXCR-4, the Myelokathexis Syndrome Completed NCT01058993 Phase 1 AMD3100 or plerixafor
6 Women's Health Initiative Memory Study of Younger Women Completed NCT01124773
7 Effects of Hormone Therapy on Subclinical Neurological Pathology-The WHIMS-MRI Collaborative Study Completed NCT00739869
8 Effects of Hormone Replacement Therapy on Cognitive Aging: Women's Health Initiative Study of Cognitive Aging (WHISCA) Completed NCT00631332
9 WAGR Syndrome and Other 11p Contiguous Gene Deletions: Clinical Characterization and Correlation With Genotype Completed NCT00758108
10 Women's Health Initiative Memory Study--Epidemiology of Cognitive Health Outcomes Active, not recruiting NCT00745056
11 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

Sources

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 29 CXCR4
Sources

Anatomical Context for Whim Syndrome

About this section

MalaCards organs/tissues related to Whim Syndrome:

40
Bone Marrow, Bone, Myeloid, Neutrophil, Brain, Small Intestine, Cervix
Sources

Publications for Whim Syndrome

About this section

Articles related to Whim Syndrome:

(show top 50) (show all 257)
# Title Authors PMID Year
1
CXCR4 dimerization and beta-arrestin-mediated signaling account for the enhanced chemotaxis to CXCL12 in WHIM syndrome. 56 6 61 54
18436740 2008
2
WHIM syndromes with different genetic anomalies are accounted for by impaired CXCR4 desensitization to CXCL12. 56 6 54 61
15536153 2005
3
Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunodeficiency disease. 61 6 56 54
12692554 2003
4
Plerixafor for the Treatment of WHIM Syndrome. 61 56
30625055 2019
5
Chromothriptic cure of WHIM syndrome. 61 56
25662009 2015
6
Leukocyte analysis from WHIM syndrome patients reveals a pivotal role for GRK3 in CXCR4 signaling. 61 56
18274673 2008
7
WHIM syndrome, an autosomal dominant disorder: clinical, hematological, and molecular studies. 61 56
10767001 2000
8
A new familial immunodeficiency disorder characterized by severe neutropenia, a defective marrow release mechanism, and hypogammaglobulinemia. 56
2239986 1990
9
An unusual form of chronic neutropenia in a father and daughter with hypogammaglobulinaemia. 56
889707 1977
10
'Myelokathexis'. Neutropenia with marrow hyperplasia. 56
868817 1977
11
CHRONIC IDIOPATHIC GRANULOCYTOPENIA. 56
14122792 1964
12
"MYELOKATHEXIS"--A NEW FORM OF CHRONIC GRANULOCYTOPENIA. REPORT OF A CASE. 56
14101065 1964
13
Site-specific phosphorylation of CXCR4 is dynamically regulated by multiple kinases and results in differential modulation of CXCR4 signaling. 61 54
20048153 2010
14
A case of WHIM syndrome associated with diabetes and hypothyroidism. 54 61
19476565 2009
15
Familial occurrence of warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome. 61 54
19043667 2008
16
Small neutralizing molecules to inhibit actions of the chemokine CXCL12. 54 61
18556651 2008
17
[The Whim syndrome: a rare cause of diffuse bronchiectasis. Immune defect of CXCR4 and chronic bronchial suppuration]. 61 54
18535531 2008
18
Regulation of CXCR4 signaling. 61 54
17169327 2007
19
WHIM syndrome myelokathexis reproduced in the NOD/SCID mouse xenotransplant model engrafted with healthy human stem cells transduced with C-terminus-truncated CXCR4. 54 61
16946301 2007
20
Recurrent CXCR4 sequence variation in a girl with WHIM syndrome. 61 54
17087743 2007
21
Stromal-derived factor-1 abolishes constitutive apoptosis of WHIM syndrome neutrophils harbouring a truncating CXCR4 mutation. 61 54
16899028 2006
22
The role of a mutation of the CXCR4 gene in WHIM syndrome. 61 54
16154852 2005
23
WHIM syndrome: a defect in CXCR4 signaling. 54 61
16091205 2005
24
Enhanced function with decreased internalization of carboxy-terminus truncated CXCR4 responsible for WHIM syndrome. 54 61
15781337 2005
25
CXCR4 mutations in WHIM syndrome: a misguided immune system? 61 54
15661033 2005
26
Altered leukocyte response to CXCL12 in patients with warts hypogammaglobulinemia, infections, myelokathexis (WHIM) syndrome. 54 61
15026312 2004
27
WHIM syndrome: a genetic disorder of leukocyte trafficking. 61 54
14612668 2003
28
CXCR4 antagonist AMD3100 (plerixafor): from an impurity to a therapeutic agent. 61
32544428 2020
29
Displacement- and Strain-Based Discrimination of Head Injury Models across a Wide Range of Blunt Conditions. 61
32240424 2020
30
Heart Rate, Brain Imaging Biomarkers and Cognitive Impairment in Older (≥63 years) Women. 61
32576368 2020
31
New Insights on the Emerging Genomic Landscape of CXCR4 in Cancer: A Lesson from WHIM. 61
32260318 2020
32
Structure-seeking as a psychological antecedent of beliefs about morality. 61
32105120 2020
33
Low-fat dietary pattern and global cognitive function: Exploratory analyses of the Women's Health Initiative (WHI) randomized Dietary Modification trial. 61
31938786 2020
34
Family studies of warts, hypogammaglobulinemia, immunodeficiency, myelokathexis syndrome. 61
31652152 2020
35
Low-level Cxcr4-haploinsufficient HSC engraftment is sufficient to correct leukopenia in WHIM syndrome mice. 61
31687976 2019
36
Cognitive resilience among APOE ε4 carriers in the oldest old. 61
31418472 2019
37
Relations of magnesium intake to cognitive impairment and dementia among participants in the Women's Health Initiative Memory Study: a prospective cohort study. 61
31685499 2019
38
Acute myeloid leukemia arising after Hodgkin lymphoma in a patient with WHIM syndrome. 61
31368255 2019
39
Abnormal Newborn Screen in a WHIM Syndrome Infant. 61
31493092 2019
40
Dementia outcomes after addition of proxy-based assessments for deceased or proxy-dependent participants. 61
31034676 2019
41
WHIM Syndrome: from Pathogenesis Towards Personalized Medicine and Cure. 61
31313072 2019
42
Rash, Radiculopathy, and Cognitive Biases. 61
31227041 2019
43
A candidate gene study of risk for dementia in older, postmenopausal women: Results from the Women's Health Initiative Memory Study. 61
30706571 2019
44
The WHIM Syndrome Is No Longer a Whim. 61
31076063 2019
45
Long-Term Outcome of WHIM Syndrome in 18 Patients: High Risk of Lung Disease and HPV-Related Malignancies. 61
30716504 2019
46
Plerixafor for the Treatment of WHIM Syndrome. Reply. 61
30995388 2019
47
Plerixafor for the Treatment of WHIM Syndrome. 61
30995387 2019
48
DNA methylation variant, B-vitamins intake and longitudinal change in body mass index. 61
29777237 2019
49
Blood pressure variability and brain morphology in elderly women without cardiovascular disease. 61
30814325 2019
50
High temperature/pressure MAS-NMR for the study of dynamic processes in mixed phase systems. 61
30482639 2019
Sources

Variations for Whim Syndrome

About this section

ClinVar genetic disease variations for Whim Syndrome:

6 (show all 29) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CXCR4 NM_003467.2(CXCR4):c.1000C>T (p.Arg334Ter)SNV Pathogenic 14020 rs104893624 2:136872498-136872498 2:136114928-136114928
2 CXCR4 NM_003467.2(CXCR4):c.1027G>T (p.Glu343Ter)SNV Pathogenic 14022 rs104893625 2:136872471-136872471 2:136114901-136114901
3 CXCR4 NM_003467.2(CXCR4):c.1013C>G (p.Ser338Ter)SNV Pathogenic 14023 rs104893626 2:136872485-136872485 2:136114915-136114915
4 CXCR4 NM_003467.2(CXCR4):c.1016_1017del (p.Ser339fs)deletion Likely pathogenic 14021 rs730880320 2:136872481-136872482 2:136114911-136114912
5 CXCR4 NM_003467.2(CXCR4):c.994G>T (p.Gly332Ter)SNV Likely pathogenic 574352 rs1240625960 2:136872504-136872504 2:136114934-136114934
6 CXCR4 NM_003467.2(CXCR4):c.582G>C (p.Leu194Phe)SNV Conflicting interpretations of pathogenicity 624148 rs769772228 2:136872916-136872916 2:136115346-136115346
7 CXCR4 NM_003467.2(CXCR4):c.1003G>A (p.Gly335Ser)SNV Conflicting interpretations of pathogenicity 372600 rs147214773 2:136872495-136872495 2:136114925-136114925
8 CXCR4 NM_003467.2(CXCR4):c.458A>C (p.Glu153Ala)SNV Uncertain significance 530952 rs1553457905 2:136873040-136873040 2:136115470-136115470
9 CXCR4 NM_003467.2(CXCR4):c.727A>C (p.Ile243Leu)SNV Uncertain significance 644782 2:136872771-136872771 2:136115201-136115201
10 CXCR4 NM_003467.2(CXCR4):c.704G>A (p.Arg235His)SNV Uncertain significance 663673 2:136872794-136872794 2:136115224-136115224
11 CXCR4 NM_003467.2(CXCR4):c.506T>C (p.Ile169Thr)SNV Uncertain significance 665616 2:136872992-136872992 2:136115422-136115422
12 CXCR4 NM_003467.2(CXCR4):c.478G>A (p.Val160Ile)SNV Uncertain significance 660916 2:136873020-136873020 2:136115450-136115450
13 CXCR4 NM_003467.2(CXCR4):c.250G>A (p.Asp84Asn)SNV Uncertain significance 653935 2:136873248-136873248 2:136115678-136115678
14 CXCR4 NC_000002.12:g.(?_135950413)_(136118080_?)deldeletion Uncertain significance 650197 2:136707983-136875650 2:135950413-136118080
15 CXCR4 NC_000002.12:g.(?_135950413)_(136118080_?)dupduplication Uncertain significance 831169 2:136707983-136875650
16 CXCR4 NM_003467.3(CXCR4):c.1022C>A (p.Ser341Tyr)SNV Uncertain significance 855700 2:136872476-136872476 2:136114906-136114906
17 CXCR4 NM_003467.3(CXCR4):c.954_955CT[1] (p.Ser319fs)short repeat Uncertain significance 835055 2:136872541-136872542 2:136114971-136114972
18 CXCR4 NM_003467.3(CXCR4):c.928A>G (p.Lys310Glu)SNV Uncertain significance 855157 2:136872570-136872570 2:136115000-136115000
19 CXCR4 NM_003467.3(CXCR4):c.132del (p.Tyr45fs)deletion Uncertain significance 863531 2:136873366-136873366 2:136115796-136115796
20 CXCR4 NM_003467.3(CXCR4):c.708G>A (p.Lys236=)SNV Likely benign 724626 2:136872790-136872790 2:136115220-136115220
21 CXCR4 NM_003467.3(CXCR4):c.861C>T (p.Thr287=)SNV Likely benign 748112 2:136872637-136872637 2:136115067-136115067
22 CXCR4 NM_003467.3(CXCR4):c.249C>T (p.Ala83=)SNV Likely benign 765513 2:136873249-136873249 2:136115679-136115679
23 CXCR4 NM_003467.2(CXCR4):c.273T>C (p.Leu91=)SNV Likely benign 530954 rs1025484081 2:136873225-136873225 2:136115655-136115655
24 CXCR4 NM_003467.2(CXCR4):c.294C>T (p.Ala98=)SNV Likely benign 530953 rs142289207 2:136873204-136873204 2:136115634-136115634
25 CXCR4 NM_003467.2(CXCR4):c.783C>T (p.Ile261=)SNV Benign 434875 rs148279552 2:136872715-136872715 2:136115145-136115145
26 CXCR4 NM_003467.2(CXCR4):c.414C>T (p.Ile138=)SNV Benign 259052 rs2228014 2:136873084-136873084 2:136115514-136115514
27 CXCR4 NM_003467.3(CXCR4):c.511G>A (p.Asp171Asn)SNV Benign 799822 2:136872987-136872987 2:136115417-136115417
28 CXCR4 NM_003467.3(CXCR4):c.171A>G (p.Gly57=)SNV Benign 790642 2:136873327-136873327 2:136115757-136115757
29 CXCR4 NM_003467.3(CXCR4):c.157A>C (p.Ile53Leu)SNV Benign 709395 2:136873341-136873341 2:136115771-136115771
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 17)
# Super pathways Score Top Affiliating Genes
1
Signaling by GPCR 65
Show member pathways
 14.03 SAG GRK6 GRK3 CXCR4 CXCR2 CXCL12
2
Neuroscience 4
12.39 SAG GRK3 CXCR4 APOE ADRB2
3
ADP signalling through P2Y purinoceptor 12 65
Show member pathways
 12.37 GRK3 ARRB2 ARRB1 ADRB2
4
Myometrial Relaxation and Contraction Pathways 1
Show member pathways
 12.32 GRK6 ARRB2 ARRB1 ADRB2 ACKR3
5
Clathrin-mediated endocytosis 65
Show member pathways
 12.22 GRK3 ARRB2 ARRB1 ADRB2
6
Chemokine Superfamily: Human/Mouse Ligand-Receptor Interactions 64
Show member pathways
 12.05 CXCR4 CXCR2 CXCL12 CCR6 ACKR3
7
ADP signalling through P2Y purinoceptor 1 65
Show member pathways
 11.98 GRK6 GRK3 ARRB2 ARRB1
8
CCR5 Pathway in Macrophages 63
Show member pathways
 11.98 GRK6 GRK3 CXCR4 CXCR2 CXCL12 CCR6
9
Endocytosis 36
11.83 GRK6 GRK3 CXCR4 CXCR2 ARRB2 ARRB1
10
Ca, cAMP and Lipid Signaling 4
11.81 SAG GRK3 APOE ADRB2
11
G alpha (s) signalling events 65
11.72 GRK6 GRK3 ARRB2 ARRB1 ADRB2
12
Corticotropin-releasing hormone signaling pathway 1
11.64 GRK6 GRK3 ARRB2 ARRB1
13
HIF-1-alpha transcription factor network 1
11.53 GATA2 CXCR4 CXCL12
14
GnRH secretion 36
11.51 ESR2 ARRB2 ARRB1
15
CXCR4-mediated signaling events 1
11.44 GRK6 CXCR4 CXCL12 ARRB2
16
Hedgehog signaling pathway (KEGG) 36
11.39 GRK3 ARRB2 ARRB1
17
Hematopoietic Stem Cell Differentiation 1
11.35 GATA2 CXCR4 CSF3
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 9.97 HAX1 GRK6 GRK3 DOCK8 CXCR4 CXCR2
2 early endosome GO:0005769 9.62 CXCR4 APOE ADRB2 ACKR3
3 clathrin-coated pit GO:0005905 9.43 ARRB2 ARRB1 ACKR3
4 external side of plasma membrane GO:0009897 9.35 CXCR4 CXCR2 CXCL12 CCR6 ACKR3
5 cell GO:0005623 9.23 GATA2 ELANE CXCR4 CXCR2 CXCL12 CCR6

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

(show all 30)
# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 10.01 CXCR4 CXCR2 CXCL12 CSF3 CCR6 ACKR3
2 signal transduction GO:0007165 9.97 SAG GRK6 GRK3 ESR2 CXCR4 CXCR2
3 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.91 ARRB2 ARRB1 APOE ACKR3
4 cellular calcium ion homeostasis GO:0006874 9.82 ELANE CXCL12 APOE
5 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.81 HAX1 CSF3 ARRB2 ARRB1
6 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.8 HAX1 CSF3 ARRB2
7 calcium-mediated signaling GO:0019722 9.8 CXCR4 CXCR2 CCR6 ACKR3
8 positive regulation of protein ubiquitination GO:0031398 9.79 ARRB2 ARRB1 ADRB2
9 cellular response to cytokine stimulus GO:0071345 9.77 HAX1 CXCR4 CSF3
10 chemotaxis GO:0006935 9.77 CXCR4 CXCR2 CXCL12 CCR6 ACKR3
11 chemokine-mediated signaling pathway GO:0070098 9.76 CXCR2 CXCL12 CCR6 ACKR3
12 regulation of G protein-coupled receptor signaling pathway GO:0008277 9.75 GRK6 ARRB2 ARRB1
13 positive regulation of cytosolic calcium ion concentration GO:0007204 9.72 GATA2 CXCR4 CXCR2 CCR6 ACKR3
14 G protein-coupled receptor signaling pathway GO:0007186 9.7 GRK6 GRK3 CXCR4 CXCR2 CXCL12 CCR6
15 dendritic cell chemotaxis GO:0002407 9.65 CXCR4 CXCR2 CCR6
16 positive regulation of T cell migration GO:2000406 9.64 DOCK8 CXCL12
17 cellular response to chemokine GO:1990869 9.64 DOCK8 CXCL12
18 negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage GO:1902230 9.63 CXCL12 ACKR3
19 detection of mechanical stimulus involved in sensory perception of pain GO:0050966 9.63 CXCR4 CXCL12
20 leukocyte migration involved in inflammatory response GO:0002523 9.62 ELANE CCR6
21 detection of temperature stimulus involved in sensory perception of pain GO:0050965 9.61 CXCR4 CXCL12 ARRB2
22 acute inflammatory response to antigenic stimulus GO:0002438 9.6 ELANE CXCR2
23 telencephalon cell migration GO:0022029 9.58 CXCR4 CXCL12
24 G protein-coupled receptor internalization GO:0002031 9.58 SAG ARRB2 ARRB1
25 follicle-stimulating hormone signaling pathway GO:0042699 9.57 ARRB2 ARRB1
26 positive regulation of mesenchymal stem cell migration GO:1905322 9.56 CXCR4 ACKR3
27 receptor internalization GO:0031623 9.56 GRK3 CXCR2 ARRB2 ACKR3
28 desensitization of G protein-coupled receptor signaling pathway by arrestin GO:0002032 9.55 ARRB2 ADRB2
29 response to ultrasound GO:1990478 9.52 CXCR4 CXCL12
30 cell chemotaxis GO:0060326 9.1 CXCR4 CXCR2 CXCL12 CCR6 ARRB2 ACKR3

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 enzyme binding GO:0019899 9.89 ESR2 CSF3 ARRB2 ARRB1 ADRB2
2 G protein-coupled receptor binding GO:0001664 9.7 SAG ARRB2 ARRB1
3 arrestin family protein binding GO:1990763 9.54 ARRB2 ARRB1
4 G protein-coupled receptor kinase activity GO:0004703 9.51 GRK6 GRK3
5 chemokine receptor activity GO:0004950 9.5 CXCR4 CXCR2 CCR6
6 beta-adrenergic receptor kinase activity GO:0047696 9.48 GRK6 GRK3
7 alpha-1B adrenergic receptor binding GO:0031692 9.46 ARRB2 ARRB1
8 chemokine binding GO:0019956 9.46 CXCR4 CXCR2 CCR6 ACKR3
9 follicle-stimulating hormone receptor binding GO:0031762 9.43 ARRB2 ARRB1
10 C-X-C chemokine receptor activity GO:0016494 9.43 CXCR4 CXCR2 ACKR3
11 angiotensin receptor binding GO:0031701 9.4 ARRB2 ARRB1
12 alpha-1A adrenergic receptor binding GO:0031691 9.37 ARRB2 ARRB1
13 C-C chemokine binding GO:0019957 9.26 CXCR4 CXCR2 CCR6 ACKR3
14 C-C chemokine receptor activity GO:0016493 8.92 CXCR4 CXCR2 CCR6 ACKR3
Sources

Sources for Whim Syndrome

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 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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