Whim syndrome 1

Preferred Label : Whim syndrome 1;

Symbol : WHIMS1;

CISMeF acronym : WHIMS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : WHIMS; Warts, hypogammaglobulinemia, infections, and myelokathexis syndrome 1;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutations in the chemokine (C-X-C motif) receptor 4 gene (CXCR4, 162643.0001);

Prefixed ID : #193670;

Details

Origin ID

193670;

UMLS CUI

C5542296;

Automatic exact mappings (from CISMeF team)
- CXCR4 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- WHIM - [Warts-hypogammaglobulinaemia-infections-myelokathexis] syndrome [ICD-11 More detail]
- WHIM syndrome [PASCAL descriptor]
- WHIM syndrome [DO Concept]
- WHIM syndrome [Disease (Nov.)]
- WHIM syndrome [MedDRA LLT]
- WHIM syndrome [MeSH concept]
- WHIM syndrome [MeSH Supplementary Concept]
- WHIM syndrome [ORDO Disease]
- Warts, Hypogammaglobulinemia, Infections, and Myelokathexis Syndrome [NCIt concept]
- Warts, hypogammaglobulinemia, infections, and myelokathexis (disorder) [SNOMED CT concept]
DO Cross reference
- WHIM syndrome [DO Concept]
Genes related to phenotype
- Chemokine, cxc motif, receptor 4 [OMIM gene]
HPO term(s)
- Abnormal morphology of female internal genitalia [HPO term]
- Abnormality of bone marrow cell morphology [HPO term]
- Abnormality of female external genitalia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bone marrow hypercellularity [HPO term]
- Bronchiectasis [HPO term]
- Decreased circulating IgG level [HPO term]
- Decreased circulating antibody level [HPO term]
- Infantile onset [HPO term]
- Myelokathexis [HPO term]
- Neutropenia [HPO term]
- Recurrent bacterial infections [HPO term]
- Recurrent upper respiratory tract infections [HPO term]
- Verrucae [HPO term]
ORDO concept(s)
- WHIM syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- WHIM - [Warts-hypogammaglobulinaemia-infections-myelokathexis] syndrome [ICD-11 More detail]
- WHIM syndrome [ORDO Disease]
- WHIM syndrome [MeSH Supplementary Concept]
- WHIM syndrome [MeSH concept]
- WHIM syndrome [DO Concept]
- WHIM syndrome [PASCAL descriptor]
- WHIM syndrome [Disease (Nov.)]
- WHIM syndrome [MedDRA LLT]
- Warts, hypogammaglobulinemia, infections, and myelokathexis (disorder) [SNOMED CT concept]

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