Details of Disease | DrugMAP

General Information of Disease (ID: DISFNJOB)

Disease Name	WHIM syndrome 1
Synonyms	WHIM syndrome; Warts, hypogammaglobulinemia, infections, and myelokathexis syndrome; WHIM Syndrome; myelokathexis, isolated; Warts-infections-leukopenia-myelokatexis syndrome; Warts, hypogammaglobulinemia, infections, and myelokathexis; WHIMS; WILM; Warts-hypogammaglobulinemia-infections-myelokathexis syndrome
Definition	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).
Disease Hierarchy	DIS8J18X: Whim syndrome DISZ74WG: Constitutional neutropenia DISFNJOB: WHIM syndrome 1
Disease Identifiers	MONDO ID MONDO_8000006 UMLS CUI C5542296 OMIM ID 193670 MedGen ID 1778124 Orphanet ID 1387

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CXCR4	TTBID49	Definitive	Autosomal dominant	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CXCR4	OTUFSBX2	Definitive	Autosomal dominant	[1]
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References

1	Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunodeficiency disease. Nat Genet. 2003 May;34(1):70-4. doi: 10.1038/ng1149.