PedAM

Pediatric Disease Annotations & Medicines


	whim syndrome

Disease ID	210
Disease	whim syndrome
Definition	WHIM Syndrome (or Warts, Hypogammaglobulinemia, Infections, and Myelokathexis syndrome) is a rare congenital immunodeficiency disorder characterized by chronic noncyclic neutropenia. - NORD Reference: NORD
Synonym	warts, hypogammaglobulinaemia, infections, and myelokathexis warts, hypogammaglobulinemia, infections, and myelokathexis warts, hypogammaglobulinemia, infections, and myelokathexis (disorder) warts, hypogammaglobulinemia, infections, and myelokathexis syndrome whim - warts, hypogammaglobulinaemia, infections and myelokathexis whim - warts, hypogammaglobulinemia, infections and myelokathexis whims
Orphanet	ORPHANET:51636
OMIM	OMIM:193670
UMLS	C0472817
SNOMED-CT	SNOMEDCT_US_2016_09_01:234571003
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:1) C0024299 \| lymphoma \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) CXCR4 \| 7852 \| CLINVAR;CTD_human;ORPHANET
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:40) 6343 \| SCT \| DISEASES 1440 \| CSF3 \| DISEASES 5880 \| RAC2 \| DISEASES 55997 \| CFC1 \| DISEASES 6366 \| CCL21 \| DISEASES 10552 \| ARPC1A \| DISEASES 5595 \| MAPK3 \| DISEASES 51608 \| GET4 \| DISEASES 92579 \| G6PC3 \| DISEASES 409 \| ARRB2 \| DISEASES 651 \| BMP3 \| DISEASES 2890 \| GRIA1 \| DISEASES 3577 \| CXCR1 \| DISEASES 6870 \| TACR3 \| DISEASES 695 \| BTK \| DISEASES 3579 \| CXCR2 \| DISEASES 53637 \| S1PR5 \| DISEASES 10456 \| HAX1 \| DISEASES 1233 \| CCR4 \| DISEASES 1103 \| CHAT \| DISEASES 4734 \| NEDD4 \| DISEASES 2624 \| GATA2 \| DISEASES 204 \| AK2 \| DISEASES 7456 \| WIPF1 \| DISEASES 8517 \| IKBKG \| DISEASES 959 \| CD40LG \| DISEASES 5688 \| PSMA7 \| DISEASES 4352 \| MPL \| DISEASES 83737 \| ITCH \| DISEASES 7454 \| WAS \| DISEASES 6387 \| CXCL12 \| DISEASES 6295 \| SAG \| DISEASES 7852 \| CXCR4 \| DISEASES 4776 \| NFATC4 \| DISEASES 5601 \| MAPK9 \| DISEASES 81704 \| DOCK8 \| DISEASES 408 \| ARRB1 \| DISEASES 2870 \| GRK6 \| DISEASES 930 \| CD19 \| DISEASES 100129060 \| SEMA3F-AS1 \| DISEASES
Locus	Symbol \| Locus(Total Locus:1) CXCR4 \| 2q22.1

Disease ID	210
Disease	whim syndrome
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:10) HP:0002718 \| Recurrent pyogenic infections HP:0000055 \| Abnormality of female external genitalia HP:0001875 \| Neutropenia HP:0004315 \| IgG deficiency HP:0000008 \| Abnormality of female internal genitalia HP:0002110 \| Bronchiectasis HP:0005561 \| Abnormality of bone marrow cell morphology HP:0200043 \| Verrucae HP:0002788 \| Recurrent upper respiratory infection HP:0004313 \| Decreased immunoglobulin level
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:2) HP:0002665 \| Lymphoma \| 1 HP:0200043 \| Verrucae \| 1

Disease ID	210
Disease	whim syndrome
Manually Symptom	UMLS \| Name(Total Manually Symptoms:3) C0746882 \| chronic neutropenia C0079731 \| b-cell lymphoma C0021051 \| immunodeficiency
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:13)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs104893624	25355818	6387	CXCL12	umls:C0472817	BeFree	CXCL12 stimulation triggered CXCR4(R334X) internalization in FLNA-deficient M2 cells but not in the FLNA-expressing M2 subclone A7; this suggests a role for FLNA in stabilization of WHIM-like CXCR4 at the cell surface.	0.002442977	2015	CXCR4;LOC105373632	2	136114928	G	A
rs104893624	22596258	7852	CXCR4	umls:C0472817	BeFree	Accordingly, like CXCR4(R334X), the most common truncation mutation in WHIM syndrome, CXCR4(E343K) mediated approximately 2-fold increased signaling in calcium flux and chemotaxis assays relative to wild-type CXCR4; however, CXCR4(E343K) had a reduced effect on blocking normal receptor down-regulation from the cell surface.	0.449771907	2012	CXCR4;LOC105373632	2	136114928	G	A
rs104893624	19476565	7852	CXCR4	umls:C0472817	BeFree	A nonsense mutation (C-->T) truncating the CXC chemokine receptor 4 (CXCR4) C-terminal cytoplasmic tail domain occurred at nucleotide position 1000(R334X) of the CXCR4 gene in one allele of the patient was identified, and the person was diagnosed as having WHIM syndrome.	0.449771907	2009	CXCR4;LOC105373632	2	136114928	G	A
rs104893624	NA	7852	CXCR4	umls:C0472817	CLINVAR	NA	0.449771907	NA	CXCR4;LOC105373632	2	136114928	G	A
rs104893624	21070597	7852	CXCR4	umls:C0472817	BeFree	AMD3100 is a potent antagonist at CXCR4(R334X) , a hyperfunctional mutant chemokine receptor and cause of WHIM syndrome.	0.449771907	2011	CXCR4;LOC105373632	2	136114928	G	A
rs104893625	22596258	7852	CXCR4	umls:C0472817	BeFree	Accordingly, like CXCR4(R334X), the most common truncation mutation in WHIM syndrome, CXCR4(E343K) mediated approximately 2-fold increased signaling in calcium flux and chemotaxis assays relative to wild-type CXCR4; however, CXCR4(E343K) had a reduced effect on blocking normal receptor down-regulation from the cell surface.	0.449771907	2012	CXCR4;LOC105373632	2	136114901	C	A
rs104893625	23734232	6387	CXCL12	umls:C0472817	BeFree	WHIM syndrome-associated CXCR4 truncation mutants lacking the S346/347 phosphosite and the recently identified E343K WHIM mutant displayed strongly impaired phosphorylation at S324/325 and S338/339 as well as reduced CXCL12-induced receptor internalization.	0.002442977	2013	CXCR4;LOC105373632	2	136114901	C	A
rs104893625	NA	7852	CXCR4	umls:C0472817	CLINVAR	NA	0.449771907	NA	CXCR4;LOC105373632	2	136114901	C	A
rs104893626	24711662	7852	CXCR4	umls:C0472817	BeFree	We screened 418 patients with B-cell lymphoproliferative disorders and described the presence of the C1013G/CXCR4 warts, hypogammaglobulinemia, infections, and myelokathexis-associated mutation in 28.2% (37/131) of patients with lymphoplasmacytic lymphoma (Waldenström macroglobulinemia [WM]), being either absent or present in only 7% of other B-cell lymphomas.	0.449771907	2014	CXCR4;LOC105373632	2	136114915	G	C
rs104893626	NA	7852	CXCR4	umls:C0472817	CLINVAR	NA	0.449771907	NA	CXCR4;LOC105373632	2	136114915	G	C
rs387907272	24553177	4615	MYD88	umls:C0472817	BeFree	Fewer patients with MYD88(L265P) and CXCR4(WHIM/FS or NS) vs MYD88(L265P)CXCR4(WT) presented with adenopathy (P < .01), further delineating differences in disease tropism based on CXCR4 status.	0.000271442	2014	MYD88	3	38141150	T	C
rs387907272	24553177	7852	CXCR4	umls:C0472817	BeFree	Fewer patients with MYD88(L265P) and CXCR4(WHIM/FS or NS) vs MYD88(L265P)CXCR4(WT) presented with adenopathy (P < .01), further delineating differences in disease tropism based on CXCR4 status.	0.449771907	2014	MYD88	3	38141150	T	C
rs730880320	NA	7852	CXCR4	umls:C0472817	CLINVAR	NA	0.449771907	NA	CXCR4;LOC105373632	2	136114911	AG	-

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0012191	B-cell lymphoma	MP:0002023	increased B cell derived lymphoma incidence;

Mapped by homologous gene(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0012191	B-cell lymphoma	MP:0008217	abnormal B cell activation;HP:0002721	Immunodeficiency

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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