MCID: WHM001
MIFTS: 53

Whim Syndrome malady

Categories: Genetic diseases, Rare diseases, Blood diseases

Aliases & Classifications for Whim Syndrome

About this section
Sources:
50OMIM, 11Disease Ontology, 46NIH Rare Diseases, 23GeneTests, 52Orphanet, 68UniProtKB/Swiss-Prot, 12diseasecard, 48Novoseek, 37MeSH, 66UMLS, 25GTR, 28ICD10, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Whim Syndrome:

Name: Whim Syndrome 50 11 46 23 52 68 12 48 37 66
Warts, Hypogammaglobulinemia, Infections and Myelokathexis 23 68 25
Whims 11 46 68
Warts-Hypogammaglobulinemia-Infections-Myelokathexis Syndrome 11 52
 
Warts, Hypogammaglobulinemia, Infections, and Myelokathexis 11 46
Warts-Infections-Leukopenia-Myelokatexis Syndrome 52
Wilm 52

Characteristics:

Orphanet epidemiological data:

52
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:

62
whim syndrome:
Inheritance: autosomal dominant inheritance
Onset and clinical course: infantile onset


Classifications:



External Ids:

OMIM50 193670
Disease Ontology11 DOID:0060591
ICD1028 D81.8
MeSH37 C536697
Orphanet52 ORPHA51636
ICD10 via Orphanet29 D81.8
MESH via Orphanet38 C536697
UMLS via Orphanet67 C0472817
MedGen35 C0472817

Summaries for Whim Syndrome

About this section
NIH Rare Diseases:46 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 abnormality of female internal genitalia, abnormality of female external genitalia and neutropenia. An important gene associated with Whim Syndrome is CXCR4 (C-X-C Motif Chemokine Receptor 4), and among its related pathways are HIF-1-alpha transcription factor network and Jak/STAT Signaling Pathway. Affiliated tissues include bone, bone marrow and myeloid, and related mouse phenotype hematopoietic system.

Disease Ontology:11 An immunodeficiency disease characterized by neutropenia, hypogammaglobulinemia, and extensive human papillomavirus (hpv) infection. it is caused by heterozygous mutation in the cxcr4 gene on chromosome 2q22.

OMIM:50 WHIM syndrome is an immunodeficiency disease characterized by neutropenia, hypogammaglobulinemia, and extensive human... (193670) more...

UniProtKB/Swiss-Prot:68 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

About this section

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

(show top 50)    (show all 81)
idRelated DiseaseScoreTop Affiliating Genes
1wilms tumor susceptibility-512.3
2wilms tumor 612.1
3hereditary wilms' tumor12.0
4cervical wilms' tumor12.0
5familial wilms tumor12.0
6wilms tumor and radial bilateral aplasia11.9
7wilms tumor 211.9
8epithelial predominant wilms' tumor11.9
9mixed cell type kidney wilms' tumor11.9
10blastema predominant kidney wilms' tumor11.9
11stromal predominant kidney wilms' tumor11.9
12ovarian wilms' cancer11.8
13metachronous kidney wilms' tumor11.8
14familial wilms tumor 211.8
15wagr syndrome11.8
16denys-drash syndrome11.8
17perlman syndrome11.8
18wilms tumor-aniridia-genital anomalies-retardation syndrome11.8
19global developmental delay-lung cysts-overgrowth-wilms tumor syndrome11.8
20aniridia10.9
21wagro syndrome10.8
22beckwith-wiedemann syndrome10.7
23embryoma10.6
24frasier syndrome10.5
25leukemia10.5
26mulibrey nanism10.5
27metanephric adenoma10.5
28renal cell carcinoma, papillary10.4
29li-fraumeni syndrome10.4
30myeloid leukemia10.3
31bohring-opitz syndrome10.3
32ischemic optic neuropathy10.3CXCL12, CXCR4
33disease_ontology10.2CXCL12, CXCR4
34hemihypertrophy10.2
35breast cancer10.2
36tetralogy of fallot10.2
37fasciolopsiasis10.2CXCL12, CXCR4
38sarcoma10.2
39hilar cholangiocellular carcinoma10.1CXCL12, CXCR4
40horseshoe kidney10.1
41lymphoma10.1
42acute leukemia10.1
43chronic gonorrhea of cervix10.1CXCL12, CXCR4
44renal cell carcinoma10.1
45lymphoblastic leukemia10.1
46heart leiomyosarcoma10.1CXCL12, CXCR4
47neuroblastoma10.0
48pseudohermaphroditism10.0
49clear cell sarcoma10.0
50renal oncocytoma10.0

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



Diseases related to whim syndrome

Symptoms for Whim Syndrome

About this section

Symptoms by clinical synopsis from OMIM:

193670

Clinical features from OMIM:

193670

HPO human phenotypes related to Whim Syndrome:

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

Drugs & Therapeutics for Whim Syndrome

About this section

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

(show all 17)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
MaravirocPhase 3139376348-65-13002977
Synonyms:
376348-65-1
4,4-Difluoro-N-((1S)-3-(exo-3-(3-isopropyl-5-methyl-4H-1,2,4-triazol-4-yl)-8-azabicyclo(3.2.1)oct-8-yl)-1-phenylpropyl)cyclohexanecarboxamide
4,4-difluoro-N-[(1S)-3-[(1R,5S)-3-(3-methyl-5-propan-2-yl-1,2,4-triazol-4-yl)-8-azabicyclo[3.2.1]octan-8-yl]-1-phenylpropyl]cyclohexane-1-carboxamide
674782-29-7
AC-558
AC1MHEFQ
CHEBI:537583
CHEMBL1201187
CHEMBL256907
CID3002977
Celsentri
Celsentri(TM)
DB04835
Isopropyl, 4,4-difluoro-N-((1S)-3-{(1R,3s,5S)-3-(3-methyl-5-(propan-2-yl)-4H-1,2,4-triazol-4-yl)-8-azabicyclo(3.2.1)octan-8-yl}-1-phenylpropyl)cyclohexanecarboxamide
 
LS-182818
MVC
Maraviroc
Maraviroc [USAN]
PRO 140 & Maraviroc
PRO 140 (Anti-CCR5 monoclonal antibody) & exo-4,4-Difluoro-N-[3-[3-(3-isopropyl-5-methyl-4H-1,2,4-triazol-4-yl)-8-azabicyclo[3.2.1]oct-8-yl]-1(S)-phenylpropyl]cyclohexanecarboxamide
Selzentry
Selzentry(TM)
UK 427857
UK-427,857
UK-427,857 maraviroc (MVC)
UK-427857
UNII-MD6P741W8A
exo-4,4-Difluoro-N-[3-[3-(3-isopropyl-5-methyl-4H-1,2,4-triazol-4-yl)-8-azabicyclo[3.2.1]oct-8-yl]-1(S)-phenylpropyl]cyclohexanecarboxamide
maraviroc
2lenograstimPhase 31178
3methionineNutraceuticalPhase 376
4
EtoposidePhase 1, Phase 2121033419-42-036462
Synonyms:
(-)-Etoposide
121471-01-0
136598-18-0
201594-04-9
33419-42-0
35317-32-9
4'-Demethyl-epipodophyllotoxin 9-[4,6-O-(R)-ethylidene-beta-D-glucopyranoside
4'-Demethylepipodophyllotoxin 9-(4,6-O-(R)-ethylidene-beta-D-glucopyranoside)
4'-Demethylepipodophyllotoxin 9-(4,6-O-ethylidene-beta-D-glucopyranoside)
4'-Demethylepipodophyllotoxin ethylidene-.beta.-D-glucoside
4'-O-Demethyl-1-O-(4,6-O-ethylidene-beta-D-glucopyranosyl)epipodophyllotoxin
4-Demethylepipodophyllotoxin beta-D-ethylideneglucoside
4-Demethylepipodophyllotoxin-.beta.-D-ethylideneglucoside
51854-34-3
76576-58-4
9-((4,6-O-Ethylidine-beta-D-glucopyranosyl)oxy)-5,8,8a,9-tetrahydro-5-(4-hydroxy-3,4-dimethyloxyphenyl)furo(3',4'':6,7)naptho-(2,3-D)-1,3-dioxol-6(5ah)-one
AB00438905
AC1L1FN8
AC1L1VT3
AC1L6246
AC1NR4OG
AC1O4WGG
AC1O7M1N
AC1Q47JJ
Ambap33419-42-0
BPBio1_000673
BRD-K37798499-001-02-5
BSPBio_000611
Bio1_000489
Bio1_000978
Bio1_001467
C01576
CCRIS 2392
CHEBI:4911
CHEBI:588795
CHEMBL44657
CID11758093
CID284997
CID3310
CID36462
CID5284558
CID6419930
CID6610299
CPD000112002
D00125
DB00773
DEMETHY-EPIPODOPHYLLOTOXIN,ETHYLIDENE GLUCOSIDE,
Demethyl Epipodophyllotoxin Ethylidine Glucoside
Demethyl-epiodophyllotoxin ethylidene glucoside
Demethylepipodophyllotoxin-beta-D-ethylideneglucoside
E0675
E1383_SIGMA
EINECS 251-509-1
EPE
EPEG
ETOP
Epipodophyllotoxin
Epipodophyllotoxin VP-16213
Epipodophyllotoxin, 4'-demethyl-, 4,6-O-ethylidene-.beta.-D-glucopyranoside
Epipodophyllotoxin, 4'-demethyl-, 4,6-O-ethylidene-beta-D-glucopyranoside
Epipodophyllotoxin, 4'-demethyl-, 4,6-O-ethylidene-beta-D-glucopyranoside (8CI)
Epipodophyllotoxin, 4'-demethyl-, 9-(4,6-O-ethylidene-.beta.-D-glucopyranoside)
Epipodophyllotoxin, 4'-demethyl-, 9-(4,6-O-ethylidene-beta-D-glucopyranoside)
Eposide
Eposin
 
Eposin, Vepesid, VP-16, Toposar, Etoposide
Etopol
Etopophos
Etopophos (phosphate salt)
Etoposid
Etoposide
Etoposide (JP15/USP/INN)
Etoposide (VP16)
Etoposide [USAN:INN:BAN:JAN]
Etoposido
Etoposido [INN-Spanish]
Etoposidum
Etoposidum [INN-Latin]
Etosid
HMS1569O13
HMS2052N05
HMS2089F14
HSDB 6517
I06-0248
KBioSS_002410
LS-1214
Lastet
MLS000049957
MLS001074951
MLS001424283
MLS002153463
MLS002207239
MLS002222184
MolPort-003-983-431
MolPort-004-905-001
MolPort-004-955-161
NCGC00025056-02
NChemBio.2007.10-comp19
NK 171
NSC 141540
NSC-141540
NSC141540
Prestwick0_000396
Prestwick1_000396
Prestwick2_000396
Prestwick3_000396
Prestwick_211
S1225_Selleck
SAM001246880
SMR000112002
SPBio_002532
ST056353
Toposar
UNII-6PLQ3CP4P3
VP 16
VP 16 (pharmaceutical)
VP 16-213
VP 16213
VP-16
VP-16-213
VePESID (TN)
VePesid
Vepesid
Vepesid J
Vepeside
ZINC03830818
ZINC03938684
Zuyeyidal
etoposide
nchembio.573-comp8
nchembio873-comp2
trans-Etoposide
5
DaunorubicinPhase 1, Phase 225920830-81-330323
Synonyms:
(+)-Daunomycin
(1S,3S)-3-acetyl-3,5,12-trihydroxy-10-(methyloxy)-6,11-dioxo-1,2,3,4,6,11-hexahydrotetracen-1-yl 3-amino-2,3,6-trideoxy-alpha-L-lyxo-hexopyranoside
(1S,3S)-3-acetyl-3,5,12-trihydroxy-10-methoxy-6,11-dioxo-1,2,3,4,6,11-hexahydrotetracen-1-yl 3-amino-2,3,6-trideoxy-a-L-lyxo-hexopyranoside
(7S,9R)-9-Acetyl-7-[(2S,4S,5S,6S)-4-amino-5-hydroxy-6-methyl-oxan-2-yl]oxy-6,9,11-trihydroxy-4-methoxy-8,10-dihydro-7H-tetracene-5,12-dione
(7S,9S)-9-acetyl-7-[(2R,4S,5S,6S)-4-amino-5-hydroxy-6-methyloxan-2-yl]oxy-6,9,11-trihydroxy-4-methoxy-8,10-dihydro-7H-tetracene-5,12-dione
(8S-cis)-8-Acetyl-10-((3-amino-2,3,6-trideoxy-alpha-L-lyxo-hexopyrannosyl)oxy)-7,8,9,10-tetrahydro-6,8,11-trihydroxy-1-methoxy-5,12-napthacenedione
(8S-cis)-8-Acetyl-10-[(3-amino-2,3,6-trideoxy-.alpha.-L-lyxo-hexopyranosyl)oxy]-7,8,9,10-tetrahydro--6,8,11-trihydroxy-1-methoxy-5,12-naphthacenedione
11006-54-5
11048-29-6
1407-15-4
149541-57-1
20830-81-3
23942-76-9
27576-81-4
28020-80-6
AB00514669
AC1L1JCP
AC1Q29OI
AI3-52942
Acetyladriamycin
Anthracyline
Antibiotics From Streptomyces Coeruleorubidus
Antibiotics from Streptomyces coeruleorubidus
BPBio1_000389
BRD-K43389675-003-02-7
BRN 1445583
BSPBio_000353
C01907
CCRIS 914
CHEBI:41977
CHEMBL178
CID30323
Cerubidin
Cerubidine
D07776
DAUNORUBICIN HCL
DB00694
DM1
Daunamycin
Daunarubicinum
Dauno-Rubidomycine
DaunoXome
DaunoXome (TN)
Daunoblastin
Daunoblastine
Daunomycin
 
Daunomycin Hydrochloride
Daunomycin, Hydrochloride
Daunorrubicina
Daunorubicin
Daunorubicin (INN)
Daunorubicin (liposomal)
Daunorubicin Hcl
Daunorubicin Hydrochloride
Daunorubicin [INN:BAN]
Daunorubicin, Hydrochloride
Daunorubicina
Daunorubicine
Daunorubicinum
Daunorubicinum [INN-Latin]
Daunoxome
EINECS 244-069-7
FI 6339
FI6339
HMS2089H04
HMS2091K06
HSDB 5095
LMPK13050002
LS-187381
LS-997
Leukaemomycin C
MolPort-002-533-961
NCGC00024246-05
NCGC00024246-06
NCGC00025173-01
NCI-C04693
NChemBio.2007.10-comp14
NSC 83142
NSC-82151
Ondena
Prestwick3_000487
RCRA waste no. U059
RP 13057
Rcra Waste No. U059
Rp 13057 Hydrochloride
Rubidomycin
Rubidomycin Hydrochloride
Rubomycin
Rubomycin C
Tocris-1467
UNII-ZS7284E0ZP
VS-103
daunorubicin
nchembio723-comp2
6
CytarabinePhase 1, Phase 21074147-94-46253
Synonyms:
(beta-D-Arabinofuranosyl)cytosine
(beta-D-arabinofuranosyl)cytosine
1-.beta.-D-arabinofuranosyl-cytosine
1-Arabinofuranosylcytosine
1-beta -D-Arabinofaranosylcytosine
1-beta -D-Arabinofuranosyl-4-amino-2(1H)pyrimidinone
1-beta -D-Arabinofuranosylcytosine
1-beta-D-Arabinofaranosylcytosine
1-beta-D-Arabinofuranosyl-4-amino-2(1H)pyrimidinone
1-beta-D-Arabinofuranosyl-Cytosine
1-beta-D-Arabinofuranosylcytosine
1-beta-D-Arabinofuranosylcytosine, Cytosine Arabinoside
1-beta-D-Arabinosyl-Cytosine
1-beta-D-Arabinosylcytosine
147-94-4
1beta -Arabinofuranasylcytosine
1beta -D-Arabinofuranosylcytosine
1beta -D-Arabinosylcytosine
1beta-Arabinofuranasylcytosine
1beta-D-Arabinofuranosylcytosine
1beta-D-Arabinosylcytosine
2(1H)-Pyrimidinone, 4-amino-1- -D-arabinofuranosyl- [CAS]
2(1H)-Pyrimidinone, 4-amino-1- -D-arabinofuranosyl
30399_FLUKA
4-Amino-1-arabinofuranosyl-2-oxo-1,2-dihydropyrimidin
4-Amino-1-arabinofuranosyl-2-oxo-1,2-dihydropyrimidin [Czech]
4-Amino-1-arabinofuranosyl-2-oxo-1,2-dihydropyrimidine
4-Amino-1-b-D-arabinofuranosyl-2-(1H)-pyrimidinone
4-Amino-1-beta-D-arabinofuranosyl-2(1H)-pyrimidinon
4-Amino-1-beta-D-arabinofuranosyl-2(1H)-pyrimidinon [Czech]
4-Amino-1-beta-D-arabinofuranosyl-2(1H)-pyrimidinone
4-amino-1-[(2R,3S,4S,5R)-3,4-dihydroxy-5-(hydroxymethyl)oxolan-2-yl]pyrimidin-2-one
4-amino-1-beta-D-arabinofuranosylpyrimidin-2(1H)-one
69-74-9 (hydrochloride)
AC-1075
AC1L1M4F
AC1Q52OJ
AI3-52329
AR3
Alexan
Ara-C
Ara-C, Cytosine Arabinoside, Cytosar-U, Cytarabine
Ara-Cytidine
AraC
Arabinocytidine
Arabinofuranosyl Cytidine
Arabinofuranosylcytosine
Arabinosyl Cytosine
Arabinosylcytosine
Arabitin
Aracytidine
Aracytin
Aracytine
Arafcyt
BIDD:GT0371
BIDD:PXR0139
BTB15125
Beta-cytosine arabinoside
C02961
C1768_SIGMA
C2035
C9H13N3O5
CCRIS 913
CHEBI:28680
CHEMBL803
CHX 3311
CID6253
CPD000449317
CYTARABINE (SEE ALSO CYTARABINE HYDROCHLORIDE 69-74-9)
Citarabina
Citarabina [INN-Spanish]
Cytarabin
Cytarabina
Cytarabine
Cytarabine (JP15/USP/INN)
 
Cytarabine [USAN:INN:BAN:JAN]
Cytarabine liposome injection
Cytarabinoside
Cytarabinum
Cytarabinum [INN-Latin]
Cytarbel
Cytonal
Cytosar
Cytosar-U
Cytosine 1-beta-D-arabinofuranoside
Cytosine arabinofuranoside
Cytosine arabinose
Cytosine arabinoside
Cytosine arabinoside (VAN)
Cytosine beta-D-arabinofuranoside
Cytosine beta-D-arabinofuranoside hydrochloride
Cytosine beta-D-arabinoside
Cytosine, beta -D-arabinoside
Cytosine, beta-D-arabinoside
Cytosine-1-beta-D-arabinofuranoside
Cytosine-1-beta-D-arabinofuranoside hydrochloride
Cytosine-beta -D-arabinofuranoside
Cytosine-beta -arabinoside
Cytosine-beta-D-arabinofuranoside
Cytosine-beta-arabinoside
Cytosinearabinoside
D00168
DB00987
DepoCyte
Depocyt
Depocyt (TN)
Depocyt (liposomal)
Depocyte
EINECS 205-705-9
Erpalfa
FT-0082880
HMS2051K19
HMS2090A18
HSDB 3049
Intrathecal (injected into the spinal fluid) DepoCyt
Intrathecal cytarabine (also known as ara-C)
Iretin
LS-860
Lopac0_000316
MLS000758310
MLS001066340
MolPort-001-792-509
NCGC00093356-03
NCGC00093356-04
NCGC00093356-05
NCI-C04728
NSC 287459
NSC287459
S1648_Selleck
SAM001247012
SMR000449317
SR-01000075773-3
Spongocytidine
TL8001048
Tarabine
U 19920A
U-19,920
U-19920
UNII-04079A1RDZ
Udicil
ZINC03795098
beta -D-arabinosylcytosine
beta -arabinosylcytosine
beta -cytosine arabinoside
beta-Ara C
beta-Ara c
beta-Arabinosylcytosine
beta-Cytosine arabinoside
beta-D-Arabinosylcytosine
cytarabine
cytarabine liposome injection
cytosine-β-D-arabinofuranoside
7
ClofarabinePhase 1, Phase 2156123318-82-1119182
Synonyms:
(2R,3R,4S,5R)-5-(6-amino-2-Chloropurin-9-yl)-4-fluoro-2-(hydroxymethyl)oxolan-3-ol
(2R,3R,4S,5R)-5-(6-amino-2-chloropurin-9-yl)-4-fluoro-2-(hydroxymethyl)oxolan-3-ol
123318-82-1
2-Chloro-9-(2-deoxy-2-fluoro-b-D-arabinofuranosyl)-9H-purin-6-amine
2-Chloro-9-(2-deoxy-2-fluoro-beta-D-arabinofuranosyl)-9H-purin-6-amine
2-Chloro-9-(2-deoxy-2-fluoro-beta-D-arabinofuranosyl)adenine
2-Cl-2'-F-araA
2-chloro-9-(2'-Deoxy-2'-fluoro-beta-D-arabinofuranosyl)adenine
2-chloro-9-(2'-deoxy-2'-fluoro-beta-D-arabinofuranosyl)adenine
2-chloro-9-(2-Deoxy-2-fluoro-beta-D-arabinofuranosyl)adenine
3S211048
AC-274
AC1L3OC8
AKOS005063562
Bio-0121
C1-F-Ara-A
CAFdA
CFB
CHEBI:681569
CHEMBL1750
CID119182
CL-F-Ara-a
 
Cl-F-Ara-A
Clofarabin
Clofarabina
Clofarabine
Clofarabine (USAN/INN)
Clofarabine [USAN]
Clofarabinum
Clofarex
Clolar
Clolar (TN)
Clolar, Evoltra, Clofarabine
D03546
DB00631
DB07554
Evoltra
FT-0082882
HMS2090A07
LS-126466
MolPort-005-941-711
S1218_Selleck
UNII-762RDY0Y2H
ZINC03798247
clofarabina
clofarabinum
8tyrosineNutraceuticalPhase 1, Phase 2633
9
RitonavirPhase 1856155213-67-5392622
Synonyms:
1,3-thiazol-5-ylmethyl N-[(2S,3S,5S)-3-hydroxy-5-[[(2S)-3-methyl-2-[[methyl-[(2-propan-2-yl-1,3-thiazol-4-yl)methyl]carbamoyl]amino]butanoyl]amino]-1,6-diphenylhexan-2-yl]carbamate
155213-67-5
1hxw
1sh9
5-Thiazolylmethyl ((alphaS)-alpha-((1S,3S)-1-hydroxy-3-((2S)-2-(3-((2-isopropyl-4-thiazolyl)methyl)-3-methylureido)-3-methylbutyramido)-4-phenylbutyl)phenethyl)carbamate
5-Thiazolylmethyl ((alphaS)-alpha-((1S,3S-1-hydroxy-3-((2S)-2-(3-((2-isopropyl-4-thiazolyl)methyl)-3-methylureido)-3-methylbutyramido)-4-phenylbutyl)phenethyl)carbamate
538, ABT
A-84538
ABBOTT-84538
ABT 538
ABT 84538
ABT-538
ABT538
AC-733
AC1L94GB
AKOS000280930
Abbott 84538
BIDD:GT0387
BIDD:PXR0023
Bio-0093
C07240
C37H48N6O5S2
CHEBI:45409
CHEMBL163
CID392622
CPD000466395
D00427
D019438
 
DB00503
DRG-0244
FT-0082824
HMS2051B08
HSDB 7160
LS-148860
MLS000759541
MLS001424063
MolPort-000-883-877
N-[(2S,4S,5S)-4-hydroxy-1,6-diphenyl-5-{[(1,3-thiazol-5-ylmethoxy)carbonyl]amino}hexan-2-yl]-N~2~-(methyl{[2-(propan-2-yl)-1,3-thiazol-4-yl]methyl}carbamoyl)-L-valinamide
NCGC00159462-02
NSC693184
Norvir
Norvir (TM)
Norvir (TN)
Norvir Sec
RIT
RTV
Ritonavir
Ritonavir (JAN/USAN/INN)
Ritonavir [USAN]
Ritonavir is an inhibitor of HIV protease used to treat HIV infection and AIDS.
Ritonavirum
S1185_Selleck
SAM001246783
SMR000466395
STK634209
ZINC03944422
ritonavir
10
ZincPhase 121547440-66-632051, 23994
Synonyms:
30Zn
Cinc
Zinc
Zinc ion
 
Zincum
Zink
Zn
Zn(ii)
Zn2+
11
protease inhibitorsPhase 15157
Synonyms:
 
protease inhibitors
12
FludarabinePhase 1109221679-14-1, 75607-67-930751
Synonyms:
(2R,3S,4S,5R)-2-(6-amino-2-fluoro-9H-purin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol
(2R,3S,4S,5R)-2-(6-amino-2-fluoropurin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol
2-F-ARAA
2-F-ara-A
2-Fluoro Ara-A
2-Fluoro-9-beta-D-arabinofuranosyladenine
2-fluoro ARA-A
21679-14-1
9-beta-D-Arabinofuranosyl-2-fluoroadenine
9-beta-D-arabinofuranosyl-2-fluoro-9H-purin-6-amine
9H-Purin-6-amine, 9-beta-D-arabinofuranosyl-2-fluoro- (9CI)
AC1LCW8I
AC1Q51CF
C10H12FN5O4
CCRIS 3382
CHEMBL1568
CID657237
CPD000058874
D07966
EINECS 244-525-5
F-Ara-A
FAMP
FT-0082766
FaraA
Fludara
Fludara, Fludarabine
 
Fludarabina
Fludarabina [Spanish]
Fludarabine
Fludarabine (INN)
Fludarabine 5'-monophosphate
Fludarabine [INN]
Fludarabine monophosphate
Fludarabine phosphate
Fludarabinum
Fludarabinum [Latin]
Fludura
Fluradosa
Fluradosa (TN)
HSDB 6964
I14-4978
LS-15061
MLS000028687
NSC 118218
NSC 118218H
NSC-118218
S1491_Selleck
SAM002548956
SMR000058874
SQ Fludarabine
UNII-1X9VK9O1SC
UNII-P2K93U8740
ZINC04216238
13
ThiotepaPhase 121552-24-45453
Synonyms:
 
Thioplex
14
MelphalanPhase 1697148-82-34053, 460612
Synonyms:
(2S)-2-amino-3-[4-[bis(2-chloroethyl)amino]phenyl]propanoic acid
(2s)-2-amino-3-(4-[bis(2-chloroethyl)amino]phenyl)propanoic acid
148-82-3
3-(P-(Bis(2-chloroethyl)amino)phenyl)-L-alanine
3-(p-(Bis(2-chloroethyl)amino)phenyl)-L-alanine
3-(p-(Bis(2-chloroethyl)amino)phenyl)alanine
3-P-(Di(2-chloroethyl)amino)-phenyl-L-alanine
3-p-(Di(2-chloroethyl)amino)-phenyl-L-alanine
3025 C.B.
3025 c.b
3223-07-2
4-(Bis(2-chloroethyl)amino)-L-phenylalanine
4-14-00-01689 (Beilstein Handbook Reference)
4-[Bis(2-chloroethyl)amino]-L-phenylalanine
4-[Bis-(2-chloroethyl)amino]-L-phenylalanine
AC1LA2OE
ALKERAN (TN)
AY3360000
Alanine Nitrogen Mustard
Alkeran
AmbotzHAA1563
At-290
BIDD:GT0044
BRD-K87827419-001-02-8
BRN 2816456
BSPBio_002407
C13H18Cl2N2O2
CB 3025
CB-3025
CCRIS 374
CHEBI:165415
CHEBI:28876
CHEMBL852
CID460612
D00369
DivK1c_000653
EINECS 205-726-3
HMS2090B09
HMS2091B16
HMS502A15
HSDB 3234
IDI1_000653
KBio1_000653
KBio2_000877
KBio2_003445
KBio2_006013
KBio3_001627
KBioGR_001284
KBioSS_000877
L-3-(P-(Bis(2-chloroethyl)amino)phenyl)alanine
L-3-(p-(Bis(2-chloroethyl)amino)phenyl)alanine
L-3-(para-(Bis(2-chloroethyl)amino)phenyl)alanine
L-PAM
L-Phenylalanine mustard
L-Sarcolysin
L-Sarcolysine
L-Sarkolysin
LS-15868
LS-865
 
Levofalan
Levofolan
Levopholan
M2011_SIGMA
MELPHALAN (SEE ALSO TRANSGENIC MODEL EVALUATION (MELPHALAN))
MLS001333666
MLS002153368
Melfalan
Melfalano
Melfalano [INN-Spanish]
Melphalan (JP15/USP/INN)
Melphalan [USAN:INN:BAN:JAN]
Melphalanum
Melphalanum [INN-Latin]
Mephalan
MolPort-003-665-535
NCGC00090757-01
NCGC00090757-02
NCGC00090757-03
NCI-C04853
NINDS_000653
NIOSH/AY3360000
NSC 241286
NSC 8806
NSC-8806
NSC241286
NSC8806
P-Di-(2-chloroethyl)amino-L-phenylalanine
P-L-Sarcolysin
P-N-Bis(2-chloroethyl)amino-L-phenylalanine
Phenylalanine mustard
Phenylalanine nitrogen mustard
Prestwick_1006
RCRA waste no. U150
Rcra waste number U150
SK-15673
SMP2_000174
SMR000058720
SPBio_000287
SPECTRUM1500382
Sarcolysine
Sarkolysin
Spectrum2_000074
Spectrum3_000684
Spectrum4_000882
Spectrum5_001601
Spectrum_000397
TL8001065
TRANSGENIC LEP (MELPHALAN) (SEE ALSO MELPHALAN)
TRANSGENIC MODEL EVALUATION (MELPHALAN)
UNII-Q41OR9510P
melphalan
p-Bis(beta-chloroethyl)aminophenylalanine
p-Di-(2-chloroethyl)amino-L-phenylalanine
p-L-Sarcolysin
p-L-sarcolysine
p-N,N-bis(2-chloroethyl)amino-L-phenylalanine
p-N-Bis(2-chloroethyl)amino-L-phenylalanine
p-N-Di(chloroethyl)aminophenylalanine
p-N-di(chloroethyl)aminophenylala nine
phenylalanine nitrogen mu stard
15Progestins525
16
Progesterone51557-83-05994
Synonyms:
(S)-4-Pregnene-3,20-dione
(S)-Pregn-4-en-3,20-dione
(S)-Progesterone
.beta.-Progesterone
.delta.(sup4)-Pregnene-3,20-dione
.delta.4-Pregnene-3,20-dione
17.alpha.-Progesterone
17a-Progesterone
17alpha-Progesterone
17alpha-progesterone
17α-progesterone
1dbb
1h60
257630-50-5
3,20-Pregnene-4
32104FB6-BF81-4F6E-83C2-024DEEAEB272
4-Pregnen-3,20-dione
4-Pregnene-3,20-dione
46665_FLUKA
46665_RIEDEL
57-83-0
753497-20-0
8012-32-6
8023-13-0
AC-700
AC1L1LKF
AI3-51682
Agolutin
Akrolutin
BB_NC-0185
BHR-100
BIDD:ER0547
BIDD:PXR0094
BPBio1_000676
BRD-K64994968-001-03-6
BSPBio_000614
Bio-luton
C00410
CCRIS 533
CHEBI:17026
CHEMBL103
CID5994
CIDR
CMC_13406
COL-1620
CPD000058345
Colprosterone
Corlutin
Corlutina
Corluvite
Corporin
Corpus Luteum Hormone
Corpus luteum hormone
Crinone
Crinone (TN)
Crinone progesterone gel
Curretab
Cyclogest
Cyclogesterin
D00066
D4-Pregnene-3,20-dione
DB00396
DR-2011
Delalutin
Delta(4)-pregnene-3,20-dione
Duraprogen
EINECS 200-350-6
ETI-411
EU-0100895
Endometrin
Estima
FE-999913
Flavolutan
Fologenon
Gelbkoerperhormon
Gesterol
Gesterol 100
Gesterol 50
Gestiron
Gestone
Gestormone
Gestron
Glanducorpin
Gynlutin
Gynoluton
Gynolutone
HMS1569O16
HMS2051O05
HMS2090J07
HSDB 3389
Hormoflaveine
Hormoluton
Hydroxyprogesterone Caproate
Hydroxyprogesterone Caproic acid
LMST02030159
LS-234
Lingusorbs
Lipo-Lutin
Lipolutin
Lopac0_000895
Lucorteum
Lucorteum Sol
Lucorteum sol
Lugesteron
Luteal hormone
Luteinique
Luteocrin normale
Luteodyn
Luteogan
Luteohormone
Luteol
Luteol (VAN)
Luteopur
Luteosan
Luteostab
Luteovis
Luteum
Lutex
Lutidon
Lutin
Lutinus
Lutociclina
Lutocuclin M
Lutocyclin
Lutocyclin M
 
Lutocyclin m
Lutocylin
Lutocylol
Lutoform
Lutogyl
Lutogynon
Lutren
Lutromone
MLS000028517
MLS000758277
MLS001074187
MLS002222367
MPA
Membrettes
Methylpregnone
Micronized Progesterone
MolPort-001-794-643
NCGC00022185-03
NCGC00022185-04
NCGC00022185-05
NCGC00022185-06
NCGC00022185-07
NCGC00022185-08
NCGC00022185-09
NCGC00090798-01
NCGC00090798-02
NCI60_042166
NSC 64377
NSC 9704
NSC-9704
NSC64377
NSC9704
Nalutron
Natural Progesterone
P 0130
P0130_SIGMA
P0478
P3972_SIGMA
P6149_SIGMA
P7556_ALDRICH
P7556_SIGMA
P8783_SIGMA
P9776_SIGMA
PROGESTERONE
Percutacrine
Percutacrine Luteinique
Piaponon
Pranone
Pregn-4-en-3,20-dione
Pregn-4-ene-3,20-dione
Pregnene-3,20-dione
Pregnenedione
Prestwick0_000477
Prestwick1_000477
Prestwick2_000477
Prestwick3_000477
Prestwick_411
Primolut
Prochieve
Progeffik
Progekan
Progestan
Progestasert
Progesterol
Progesteron
Progesterona
Progesterona [INN-Spanish]
Progesterone
Progesterone (JP15/USP/INN)
Progesterone [INN:BAN:JAN]
Progesterone [Progestins]
Progesterone, water-soluble
Progesterone-Water Soluble
Progesterone: HBC complex
Progesteronum
Progesteronum [INN-Latin]
Progestin
Progestogel
Progestol
Progeston
Progestone
Progestosol
Progestrel
Progestron
Progestronol
Progestérone
Projestaject
Prolets
Prolidon
Prolutin
Proluton
Prolutone
Prometrium
Prometrium (TN)
Prontogest
Protormone
S00293
S1705_Selleck
SAM001247039
SMR000058345
SMR000653542
SPBio_002553
SR-01000000088
SR-01000000088-5
Spectrum5_002053
Syngesterone
Syngestrets
Synovex S
Syntolutan
U 3672
UNII-4G7DS2Q64Y
Utrogest
Utrogestan
Vitarrine
WLN: L E5 B666 OV MUTJ A1 E1 FV1
ZINC04428529
beta-Progesterone
bmse000482
component of Cyclogesterin
corpus luteum hormone
delta(4)-Pregnene-3,20-dione
delta(Sup 4)-Pregnene-3,20-dione
delta(Sup4)-pregnene-3,20-dione
delta(sup 4)-Pregnene-3,20-dione
delta4-Pregnene-3,20-dione
luteohormone
nchembio.2007.53-comp14
17
Adenosine38858-61-760961
Synonyms:
(2R,3R,4S,5R)-2-(6-Aminopurin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol
(2R,3R,4S,5R)-2-(6-amino-9H-purin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol
1-(6-Amino-9H-purin-9-yl)-1-deoxy-beta-D-Ribofuranose
1-(6-Amino-9H-purin-9-yl)-1-deoxy-beta-delta-Ribofuranose
1odi
2fqy
2gl0
30143-02-3
4-Aminopyrazolo[3,4-d]pyrimidine ribonucleoside
46946-45-6
46969-16-8
58-61-7
6-Amino-9-.beta.-ribofuranosyl-9H-purine
6-Amino-9-beta-D-ribofuranosyl-9H-purine
6-Amino-9beta-D-ribofuranosyl-9H-purine
6-Amino-9beta-delta-ribofuranosyl-9H-purine
9-(beta-D-Arabinofuranosyl)adenine
9-beta-D-Arabinofuranosyladenine
9-beta-D-Ribofuranosidoadenine
9-beta-D-Ribofuranosyl-9H-purin-6-amine
9-beta-D-Ribofuranosyladenine
9-beta-delta-Arabinofuranosyladenine
9-beta-delta-Ribofuranosidoadenine
9-beta-delta-Ribofuranosyl-9H-purin-6-amine
9-beta-delta-Ribofuranosyladenine
9beta-D-Ribofuranosyladenine
9beta-D-ribofuranosyl-9H-Purin-6-amine
9beta-delta-Ribofuranosyladenine
9beta-delta-ribofuranosyl-9H-Purin-6-amine
A0152
A4036_SIGMA
A9251_SIGMA
AC1L1U8O
AC1Q1ID3
AC1Q52XU
ADN
AI3-52413
Ade-Rib
Ade-rib
Adenin riboside
Adenine 9-beta-D-arabinofuranoside
Adenine deoxyribonucleoside
Adenine nucleoside
Adenine riboside
Adenine-9-beta-D-ribofuranoside
Adenine-9beta-D-Ribofuranoside
Adenine-9beta-delta-Ribofuranoside
Adenocard
Adenocard (TN)
Adenocard, Adenosine
Adenocor
Adenoscan
Adenoscan (TN)
Adenosin
Adenosin [German]
Adenosina
Adenosine (JAN/USP)
Adenosine [USAN:BAN]
Adenosine, homopolymer
Adenosinum
Adensoine
Adenyldeoxyriboside
Ado
Adénosine
BB_NC-0565
BSPBio_001796
Bio1_000437
 
Bio1_000926
Bio1_001415
Boniton
C00212
CCRIS 2557
CHEBI:16335
CHEMBL477
CID60961
Caswell No. 010B
D000241
D00045
DB00640
Deoxyadenosine
Desoxyadenosine
EA6C60C2-6AFB-4264-A2F0-541373DB950E
EINECS 200-389-9
FT-0082881
HMS1920A13
HMS2091G13
KBio3_001296
LS-15085
MEDR-640
MLS000069638
MLS002153227
MolPort-001-838-229
Myocol
NCGC00023673-03
NCGC00023673-04
NCGC00023673-05
NCGC00023673-06
NCGC00023673-07
NSC 627048
NSC 7652
NSC627048
NSC7652
Nucleocardyl
Pallacor
Polyadenosine
Polyriboadenosine
S1647_Selleck
SDCCGMLS-0003108.P003
SMR000058216
SPBio_001194
SPECTRUM1500107
SR 96225
SR-96225
SUN-Y4001
Sandesin
Spectrum2_001257
Spectrum3_000288
TL8003749
UNII-K72T3FS567
USAF CB-10
V0098
Vidarabine
ZINC02169830
adenine-D-ribose
adenosine
b-D-Adenosine
beta-Adenosine
beta-D-Adenosine
beta-D-Ribofuranoside, adenine-9
beta-delta-Adenosine
bmse000061
nchembio.143-comp9
nchembio.186-comp109
nchembio.2007.56-comp13
nchembio.64-comp4
nchembio706-5

Interventional clinical trials:

(show all 16)
idNameStatusNCT IDPhase
1Multicenter, Safety Study Of MaravirocCompletedNCT00478231Phase 3
2Plerixafor Versus G-CSF in the Treatment of People With WHIM SyndromeRecruitingNCT02231879Phase 3
3Vicriviroc, a CCR5 Inhibitor, Added to an Optimized Antiretroviral Therapy for Previously Treated HIV (VICTOR-E2) (Study P04285)(TERMINATED)TerminatedNCT00243568Phase 3
4A 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.CompletedNCT01236144Phase 1, Phase 2
5Vicriviroc in HIV(R5/X4)-Treatment Experienced Subjects (Study P05057AM5)(COMPLETED)CompletedNCT00551330Phase 2
6Safety and Activity of the Oral HIV Entry Inhibitor AMD11070 in HIV Infected PatientsCompletedNCT00089466Phase 1, Phase 2
7SP01A: The Study of an Oral Entry Inhibitor in Treatment-Experienced HIV PatientsActive, not recruitingNCT00299897Phase 2
8AMD 3100 for Treatment of MyelokathexisCompletedNCT01058993Phase 1
9A Pediatric Study of a Plerixafor Containing Regimen In Second Allogeneic Stem Cell TransplantationCompletedNCT01068301Phase 1
10Safety of AMD070 When Administered Alone or Boosted With Low-Dose Ritonavir in HIV Uninfected MenCompletedNCT00063804Phase 1
11Autologous T-Cells Genetically Modified at the CCR5 Gene by Zinc Finger Nucleases SB-728 for HIVCompletedNCT00842634Phase 1
12A Phase I Study of Mozobil in the Treatment of Patients With WHIMSRecruitingNCT00967785Phase 1
13The Women's Health Initiative Memory Study (The WHIMS Study)CompletedNCT00685009
14Idiopathic CD4 LymphocytopeniaRecruitingNCT02113930
15Hematopoietic Stem Cell Mobilization in Idiopathic CD4 Lymphocytopenia Patients and Healthy Controls for the Study of T Cell Maturation and Trafficking in Murine ModelsRecruitingNCT02015013
16Observational Study of HIV-Infected Subjects With X4-Tropic or Non-Phenotypeable VirusTerminatedNCT00321438

Search NIH Clinical Center for Whim Syndrome


Cochrane evidence based reviews: whim syndrome

Genetic Tests for Whim Syndrome

About this section

Genetic tests related to Whim Syndrome:

id Genetic test Affiliating Genes
1 Warts, Hypogammaglobulinemia, Infections, and Myelokathexis25
2 Whim Syndrome23 CXCR4

Anatomical Context for Whim Syndrome

About this section

MalaCards organs/tissues related to Whim Syndrome:

34
Bone, Bone marrow, Myeloid, Neutrophil, T cells, B cells

Animal Models for Whim Syndrome or affiliated genes

About this section

MGI Mouse Phenotypes related to Whim Syndrome:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053977.4ADRB2, ARRB1, ARRB2, CXCL12, CXCR4, GRK6

Publications for Whim Syndrome

About this section

Articles related to Whim Syndrome:

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

Variations for Whim Syndrome

About this section

Clinvar genetic disease variations for Whim Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1CXCR4NM_003467.2(CXCR4): c.1000C> T (p.Arg334Ter)single nucleotide variantPathogenicrs104893624GRCh37Chr 2, 136872498: 136872498
2CXCR4NM_003467.2(CXCR4): c.1016_1017delCT (p.Ser339Cysfs)deletionPathogenicrs730880320GRCh37Chr 2, 136872481: 136872482
3CXCR4NM_003467.2(CXCR4): c.1027G> T (p.Glu343Ter)single nucleotide variantPathogenicrs104893625GRCh37Chr 2, 136872471: 136872471
4CXCR4NM_003467.2(CXCR4): c.1013C> G (p.Ser338Ter)single nucleotide variantPathogenicrs104893626GRCh37Chr 2, 136872485: 136872485

Expression for genes affiliated with Whim Syndrome

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Search GEO for disease gene expression data for Whim Syndrome.

Pathways for genes affiliated with Whim Syndrome

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

(show all 23)
idSuper pathwaysScoreTop Affiliating Genes
19.7CXCL12, CXCR4
29.7CXCL12, CXCR4
39.7CXCL12, CXCR4
49.7CXCL12, CXCR4
59.5ADRB2, ARRB2
69.5CXCR4, GRK3
79.4ARRB2, GRK3
89.4ARRB2, GRK3
99.2ARRB1, ARRB2
109.2ARRB1, ARRB2
119.2CXCL12, CXCR4, GRK6
129.0ADRB2, CXCR4, GRK3
138.7ARRB2, CXCL12, CXCR4, GRK6
148.5ARRB1, GRK3, GRK6
15
Show member pathways
8.2ADRB2, ARRB1, ARRB2, GRK6
16
Show member pathways
8.1ADRB2, ARRB1, ARRB2, GRK3
17
Show member pathways
8.1ARRB1, ARRB2, GRK3, GRK6
188.1ARRB1, ARRB2, GRK3, GRK6
19
Show member pathways
8.1ARRB1, ARRB2, GRK3, GRK6
207.5ADRB2, ARRB1, ARRB2, GRK3, GRK6
21
Show member pathways
7.3ARRB1, ARRB2, CXCL12, CXCR4, GRK3, GRK6
227.2ADRB2, ARRB1, ARRB2, CXCR4, GRK3, GRK6
23
Show member pathways
6.7ADRB2, ARRB1, ARRB2, CXCL12, CXCR4, GRK3

GO Terms for genes affiliated with Whim Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1clathrin-coated pitGO:00059059.6ARRB1, ARRB2
2cytoplasmic vesicleGO:00314108.9ARRB1, ARRB2, CXCR4
3dendritic spineGO:00431978.4ADRB2, ARRB1, ARRB2
4plasma membraneGO:00058866.7ADRB2, ARRB1, ARRB2, CXCL12, CXCR4, GRK3

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

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1desensitization of G-protein coupled receptor protein signaling pathway by arrestinGO:000203210.1ADRB2, ARRB2
2telencephalon cell migrationGO:002202910.1CXCL12, CXCR4
3chemokine-mediated signaling pathwayGO:007009810.0CXCL12, CXCR4
4cell chemotaxisGO:00603269.8ARRB2, CXCL12
5follicle-stimulating hormone signaling pathwayGO:00426999.7ARRB1, ARRB2
6negative regulation of interleukin-6 productionGO:00327159.7ARRB1, ARRB2
7receptor internalizationGO:00316239.6ARRB2, GRK3
8negative regulation of NF-kappaB transcription factor activityGO:00320889.6ARRB1, ARRB2
9regulation of calcium ion transportGO:00519249.5ADRB2, CXCL12, CXCR4
10negative regulation of GTPase activityGO:00342609.5ARRB1, ARRB2
11negative regulation of protein ubiquitinationGO:00313979.5ARRB1, ARRB2
12positive regulation of peptidyl-serine phosphorylationGO:00331389.4ARRB1, ARRB2
13negative regulation of cysteine-type endopeptidase activity involved in apoptotic processGO:00431549.3ARRB1, ARRB2
14regulation of G-protein coupled receptor protein signaling pathwayGO:00082779.3ARRB1, ARRB2, GRK6
15positive regulation of receptor internalizationGO:00020929.2ARRB1, ARRB2
16G-protein coupled receptor internalizationGO:00020319.2ARRB1, ARRB2
17positive regulation of protein ubiquitinationGO:00313989.1ADRB2, ARRB1, ARRB2
18G-protein coupled receptor signaling pathwayGO:00071868.1ARRB1, ARRB2, CXCL12, CXCR4

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1beta-adrenergic receptor kinase activityGO:004769610.0GRK3, GRK6
2G-protein coupled receptor kinase activityGO:000470310.0GRK3, GRK6
3alpha-1B adrenergic receptor bindingGO:00316929.7ARRB1, ARRB2
4alpha-1A adrenergic receptor bindingGO:00316919.7ARRB1, ARRB2
5follicle-stimulating hormone receptor bindingGO:00317629.7ARRB1, ARRB2
6drug bindingGO:00081449.6ADRB2, CXCR4
7angiotensin receptor bindingGO:00317019.2ARRB1, ARRB2
8ubiquitin protein ligase bindingGO:00316258.9ARRB1, ARRB2, CXCR4

Sources for Whim Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet