Details of Disease

Disease Name

Whim syndrome

Disease Class

4A00: Innate/adaptive immunodeficiency

Disease Hierarchy

DISYKSRF: Genetic disease

DIS8J18X: Whim syndrome

ICD-11

ICD-11: 4A00.Y

Disease Identifiers

MONDO ID

MONDO_0023880

MESH ID

C536697

UMLS CUI

C0472817

MedGen ID

96875

SNOMED CT ID

234571003

General Information of Disease (ID: DIS8J18X)

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 1 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
AMD-070	DMVOY6B	Phase 3	Small molecular drug	[1]
------------------------------------------------------------------------------------

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CXCL12	TT4UGTF	Limited	Biomarker	[2]
CXCR4	TTBID49	Strong	Biomarker	[2]
GRK3	TT5A4DX	Strong	Biomarker	[3]
CXCR4	TTBID49	Definitive	Autosomal dominant	[4]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CXCR4	OTUFSBX2	Definitive	Autosomal dominant	[4]
------------------------------------------------------------------------------------

References

1	ClinicalTrials.gov (NCT03995108) Efficacy and Safety Study of Mavorixafor in Participants With Warts, Hypogammaglobulinemia, Infections, and Myelokathexis (WHIM) Syndrome. U.S. National Institutes of Health.
2	WHIM syndrome: Immunopathogenesis, treatment and cure strategies.Immunol Rev. 2019 Jan;287(1):91-102. doi: 10.1111/imr.12719.
3	G protein-coupled receptor kinase-3-deficient mice exhibit WHIM syndrome features and attenuated inflammatory responses.J Leukoc Biol. 2013 Dec;94(6):1243-51. doi: 10.1189/jlb.0213097. Epub 2013 Aug 9.
4	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.