ZFIN Human Disease: WHIM syndrome

OBO ID: DOID:0060591

Term Name:	WHIM syndrome		Search Ontology:
Synonyms:	warts, hypogammaglobulinemia, infections, and myelokathexis warts-hypogammaglobulinemia-infections-myelokathexis syndrome WHIMS
Definition:	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. (2)
References:	GARD:9297 MESH:C536697 NCI:C176819 OMIM:193670 SNOMEDCT_US_2023_03_01:234571003 UMLS_CUI:C0472817
Ontology:	Human Disease ( DOID:0060591 )

Relationships

is a type of:	autosomal dominant disease primary immunodeficiency disease autosomal dominant disease primary immunodeficiency disease Show first 5 Terms

OTHER WHIM syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
CXCR4	cxcr4a cxcr4b	Myelokathexis, isolated	193670
		WHIM syndrome 1	193670

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None