Immunodeficiency with hyper-igm, type 1

Preferred Label : Immunodeficiency with hyper-igm, type 1;

Symbol : HIGM1;

CISMeF acronym : HIGM1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : IMD3; Immunodeficiency 3; Hyper-igm syndrome; XHIM; Hyper-igm syndrome 1; HIGM; Hyper-igm immunodeficiency, X-linked; IHIS;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutations in the tumor necrosis factor ligand superfamily, member 5 gene (TNFSF5, 308230.0001);

Prefixed ID : #308230;

Details

Origin ID

308230;

UMLS CUI

C0398689;

Automatic exact mappings (from CISMeF team)
- CD40 ligand [ORDO Gene]
- CD40 ligand [HGNC gene]
- CD40LG wt Allele [NCIt concept]
- Hyper-IgM syndrome with susceptibility to opportunistic infections [ORDO Disease]
- symbol withdrawn HIGM1 [HGNC gene]
Broader ORDO disease(s)
- Hyper-IgM syndrome with susceptibility to opportunistic infections [ORDO Disease]
Currated CISMeF NLP mapping
- CD40 Ligand [NCIt concept]
- Hyper IgM syndrome [MedDRA Preferred Term]
- Hyper-IgM immunodeficiency syndrome [MeSH concept]
- Hyper-IgM immunodeficiency syndrome, type 1 [MeSH Descriptor]
- Hyper-IgM immunodeficiency syndrome, type 1 [MeSH concept]
- Hyper-IgM syndrome due to CD40 ligand deficiency [ICD-11 More detail]
- Hyperimmunoglobulin M Syndrome [NCIt concept]
- Hyperimmunoglobulin M syndrome (disorder) [SNOMED CT concept]
- Hyperimmunoglobulinemia M syndrome [PASCAL descriptor]
- Immunodeficiency with Hyper-IgM [NCIt concept]
- Immunodeficiency with Hyper-IgM, X-Linked, Type 1 [NCIt concept]
- X-linked hyper IgM syndrome [DO Concept]
- X-linked hyper-IgM syndrome [ORDO Disease]
- X-linked hyper-immunoglobulin M syndrome (disorder) [SNOMED CT concept]
- X-linked hyperimmunoglobulin M syndrome (finding) [Inactive SNOMED CT concept]
- hyper IgM syndrome [Disease (Nov.)]
- hyper-IgM immunodeficiency syndrome [MeSH Descriptor]
- hyperimmunoglobulin m syndrome [SNOMED Notion]
DO Cross reference
- CD40 ligand deficiency [DO Concept]
Genes related to phenotype
- Cd40 ligand [OMIM gene]
HPO term(s)
- Absence of lymph node germinal center [HPO term]
- Chronic hepatitis [HPO term]
- Cirrhosis [HPO term]
- Decreased T cell activation [HPO term]
- Decreased circulating IgA level [HPO term]
- Decreased circulating IgE [HPO term]
- Decreased circulating IgG level [HPO term]
- Diarrhea [HPO term]
- Dysgammaglobulinemia [HPO term]
- Enlarged tonsils [HPO term]
- Failure to thrive [HPO term]
- Gingivitis [HPO term]
- Hemolytic anemia [HPO term]
- Hepatitis [HPO term]
- Hepatomegaly [HPO term]
- Immunodeficiency [HPO term]
- Impaired Ig class switch recombination [HPO term]
- Impaired memory B cell generation [HPO term]
- Increased circulating IgM level [HPO term]
- Meningitis [HPO term]
- Neutropenia [HPO term]
- Normal or increased IgM [HPO term]
- Oral ulcer [HPO term]
- Recurrent bacterial infections [HPO term]
- Recurrent lower respiratory tract infections [HPO term]
- Sclerosing cholangitis [HPO term]
- Sepsis [HPO term]
- Serum IgA, IgG, and IgE severely deficient [HPO term]
- Splenomegaly [HPO term]
- Stomatitis [HPO term]
- Thrombocytopenia [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Hyper-IgM syndrome with susceptibility to opportunistic infections [ORDO Disease]
- X-linked hyper-IgM syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hyper-IgM immunodeficiency syndrome, type 1 [MeSH Descriptor]
- Hyper-IgM immunodeficiency syndrome, type 1 [MeSH concept]
- Hyper-IgM syndrome due to CD40 ligand deficiency [ICD-11 More detail]
- Immunodeficiency with Hyper-IgM, X-Linked, Type 1 [NCIt concept]
- X-linked hyper-IgM syndrome [ORDO Disease]
- X-linked hyper-immunoglobulin M syndrome (disorder) [SNOMED CT concept]
- X-linked hyperimmunoglobulin M syndrome (finding) [Inactive SNOMED CT concept]

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