Immunodeficiency with hyper-igm, type 5

Preferred Label : Immunodeficiency with hyper-igm, type 5;

Symbol : HIGM5;

CISMeF acronym : HIGM5;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hyper-igm syndrome 5;

Description : Hyper-IgM syndrome is a condition characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process. For a discussion of genetic heterogeneity of immunodeficiency with hyper-IgM, see HIGM1 (308230).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the uracil-DNA glycosylase gene (UNG, 191525.0001);

Prefixed ID : #608106;

Details

Origin ID

608106;

UMLS CUI

C1720958;

Automatic exact mappings (from CISMeF team)
- Hyper-IgM syndrome without susceptibility to opportunistic infections [ORDO Disease]
- UNG wt Allele [NCIt concept]
- hyper-IgM immunodeficiency syndrome [MeSH Descriptor]
Broader ORDO disease(s)
- Hyper-IgM syndrome without susceptibility to opportunistic infections [ORDO Disease]
Currated CISMeF NLP mapping
- Hyper-IgM immunodeficiency syndrome, type 5 [MeSH concept]
- Hyper-IgM syndrome due to uracil N glycosylase [ICD-11 More detail]
- Hyper-IgM syndrome type 5 [ORDO Disease]
- immunodeficiency with hyper IgM type 5 [DO Concept]
DO Cross reference
- immunodeficiency with hyper IgM type 5 [DO Concept]
Genes related to phenotype
- Uracil-dna glycosylase [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Decreased circulating IgA level [HPO term]
- Decreased circulating IgG level [HPO term]
- Epididymitis [HPO term]
- Immunodeficiency [HPO term]
- Impaired Ig class switch recombination [HPO term]
- Increased circulating IgM level [HPO term]
- Lymphadenopathy [HPO term]
- Recurrent bacterial infections [HPO term]
- Recurrent upper and lower respiratory tract infections [HPO term]
- Recurrent upper and lower respiratory tract infections [HPO term]
ORDO concept(s)
- Hyper-IgM syndrome type 5 [ORDO Disease]
- Hyper-IgM syndrome without susceptibility to opportunistic infections [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hyper-IgM immunodeficiency syndrome, type 5 [MeSH concept]
- Hyper-IgM syndrome due to uracil N glycosylase [ICD-11 More detail]
- Hyper-IgM syndrome type 5 [ORDO Disease]
- immunodeficiency with hyper IgM type 5 [DO Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients