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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   hyper igm syndrome
  

Disease ID 800
Disease hyper igm syndrome
Definition
A rare inherited immunodeficiency syndrome characterized by normal or elevated serum IMMUNOGLOBULIN M levels with absence of IMMUNOGLOBULIN G; IMMUNOGLOBULIN A; and IMMUNOGLOBULIN E. It results in a profound susceptibility to BACTERIAL INFECTIONS and an increased susceptibility to OPPORTUNISTIC INFECTIONS. Several subtypes of hyper-IgM immunodeficiency syndrome exist depending upon the location of genetic mutation.
Synonym
hyper igm immunodeficiency syndrome
hyper-igm immunodeficiency syndrome
hyper-igm immunodeficiency syndrome [disease/finding]
hyper-igm immunodeficiency syndromes
hyper-igm syndrome
hyper-igm syndromes
hyperimmunoglobulin m syndrome
hyperimmunoglobulin m syndrome (disorder)
immunodeficiency syndrome, hyper-igm
immunodeficiency syndromes, hyper-igm
immunodeficiency with hyper igm syndrome
immunodeficiency with hyper-igm
immunodeficiency with hyper-igm syndrome
immunodeficiency with igm hypergammaglobulinaemia
immunodeficiency with igm hypergammaglobulinemia
syndrome, hyper-igm immunodeficiency
syndromes, hyper-igm immunodeficiency
OMIM
DOID
UMLS
C0272236
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:5)
C0040034  |  thrombocytopenia  |  1
C0221013  |  systemic mastocytosis  |  1
C0006840  |  candidiasis  |  1
C0035921  |  congenital rubella  |  1
C0024899  |  mastocytosis  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:4)
8517  |  IKBKG  |  UNIPROT
57379  |  AICDA  |  CTD_human;UNIPROT
958  |  CD40  |  CTD_human;UNIPROT
7374  |  UNG  |  CTD_human;UNIPROT
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:4)
29851  |  ICOS  |  CIPHER
7374  |  UNG  |  CTD_human
958  |  CD40  |  CTD_human
57379  |  AICDA  |  CTD_human
Text Mined Gene(Waiting for update.)
Locus(Waiting for update.)
Disease ID 800
Disease hyper igm syndrome
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:5)
HP:0001880  |  Eosinophilia  |  1
HP:0002721  |  Immunodeficiency  |  1
HP:0001873  |  Low platelet count  |  1
HP:0030731  |  Carcinoma  |  1
HP:0100495  |  Mastocytosis  |  1
Disease ID 800
Disease hyper igm syndrome
Manually Symptom
UMLS  | Name(Total Manually Symptoms:1)
C2364133  |  infection
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:1)
C0009450  |  infection  |  1
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:2)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs19392213623538518959CD40LGumls:C0272236BeFreeIn contrast to those with AICDA mutation, small chromosome 1 q42 deletion and unknown genetic defect, the majority (10/14; 71.4%) with CD40L mutations except (Thr254Met) and an ataxia-telangiectasia patient had the severe form of HIGM phenotype.0.0228507752014CD40LGX136659390CT
rs1939221362353851857379AICDAumls:C0272236BeFreeIn contrast to those with AICDA mutation, small chromosome 1 q42 deletion and unknown genetic defect, the majority (10/14; 71.4%) with CD40L mutations except (Thr254Met) and an ataxia-telangiectasia patient had the severe form of HIGM phenotype.0.1232573022014CD40LGX136659390CT
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:0)
(Waiting for update.)
Mapped by homologous gene(Total Items:0)
(Waiting for update.)
Disease ID 800
Disease hyper igm syndrome
Case(Waiting for update.)