WHIM syndrome
Information
- Disease name
- WHIM syndrome
- Disease ID
- DOID:0060591
- Description
- "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." [url:https\://en.wikipedia.org/wiki/WHIM_syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/10767001]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT03995108 | Active, not recruiting | Phase 3 | Efficacy and Safety Study of Mavorixafor in Participants With Warts, Hypogammaglobulinemia, Infections, and Myelokathexis (WHIM) Syndrome | October 24, 2019 | December 2024 |
| NCT03005327 | Completed | Phase 2 | A Dose Determination and Safety Study of X4P-001 (Mavorixafor) in Participants With Warts, Hypogammaglobulinemia, Infections, and Myelokathexis (WHIM) Syndrome | December 2016 | June 16, 2022 |
| NCT03087370 | Withdrawn | A Retrospective and Prospective Natural History Study of Patients With WHIM Syndrome | June 2018 | March 2022 |
- Disase is a (Disease Ontology)
- DOID:612
- Cross Reference ID (Disease Ontology)
- GARD:9297
- Cross Reference ID (Disease Ontology)
- MESH:C536697
- Cross Reference ID (Disease Ontology)
- MIM:193670
- Cross Reference ID (Disease Ontology)
- NCI:C176819
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:234571003
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0472817
- Exact Synonym (Disease Ontology)
- warts, hypogammaglobulinemia, infections, and myelokathexis
- Exact Synonym (Disease Ontology)
- warts-hypogammaglobulinemia-infections-myelokathexis syndrome
- Exact Synonym (Disease Ontology)
- WHIMS
- OrphaNumber from OrphaNet (Orphanet)
- 51636