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Details
Link-It Detail - Disease - Hyper-IgM Immunodeficiency Syndrome, Type 1
Debug Stats
  • ### Total Build Time: 141 ms 29.486 KB
  • CONCEPT_NAME gt=11 ms Completed: 11 ms rowSize= 384 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
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  • CONCEPT_GENES gt=17 ms Completed: 17 ms rowSize= 9.463 KB
  • CONCEPT_XREFS gt=12 ms Completed: 12 ms rowSize= 1.177 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Hyper-IgM Immunodeficiency Syndrome, Type 1 C0398689
Definition (1)
An X-linked hyper-IgM immunodeficiency subtype resulting from mutation in the gene encoding CD40 LIGAND.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (2)
img Genetic Diseases, X-Linked C1138434
img Hyper-IgM Immunodeficiency Syndrome C0272236
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501234img Genetic Diseases, X-Linked C1138434
img Hemic and Lymphatic Diseases C0018981img Hematologic Diseases C00189396img Hyper-IgM Immunodeficiency Syndrome C0272236
img Immune System Diseases C0021053img Immunologic Deficiency Syndromes C00210515img Hyper-IgM Immunodeficiency Syndrome C0272236
Relationships (29)

Relation Types:
diso_​to_​chem : 1
diso_​to_​diso : 27
diso_​to_​phen : 1


Relationships:
none : 3
alias_​of : 1
inheritance_​type_​of : 1
manifestation_​of : 24
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_CHEM10img CD40 Ligand C0167627
DISO_to_PHEN9img genetic aspects C0017399
DISO_to_DISO8img Complication Aspects C1171258
DISO_to_DISOmanifestation_ofimg ANAEMIA HAEMOLYTIC C0002878
DISO_to_DISOmanifestation_ofimg Amemia C1839978
DISO_to_DISOmanifestation_ofimg B-cell count normal C1839976
DISO_to_DISOmanifestation_ofimg CH - Chronic hepatitis C0019189
DISO_to_DISOmanifestation_ofimg Caused by mutations in the tumor necrosis factor ligand superfamily, member 5 gene (TNFSF5, 308230.0001) C1839979
DISO_to_DISOmanifestation_ofimg DEFIC SYNDROME IMMUNOL C0021051
DISO_to_DISOmanifestation_ofimg Decreased T cell activation C1970801
DISO_to_DISOmanifestation_ofimg Diarrhea C0011991
DISO_to_DISOmanifestation_ofimg Dysgammaglobulinemia C0013374
DISO_to_DISOmanifestation_ofimg Enlarged Liver C0019209
DISO_to_DISOmanifestation_ofimg Enlarged Spleen C0038002
DISO_to_DISOmanifestation_ofimg GINGIVITIS C0017574
DISO_to_DISOalias_ofimg Hyper-IgM Immunodeficiency Syndrome, Type 1 C0398689
DISO_to_DISOmanifestation_ofimg Hypertrophy of tonsils C0272386
DISO_to_DISOmanifestation_ofimg Infection, Opportunistic C0029118
DISO_to_DISOmanifestation_ofimg Lymph nodes lack germinal centers C1847383
DISO_to_DISOmanifestation_ofimg Neutropenia, chronic or cyclic C1839977
DISO_to_DISOmanifestation_ofimg Normal or increased IgM C1847381
DISO_to_DISOmanifestation_ofimg Pneumocytosis carinii infection (12 to 42%) C1839981
DISO_to_DISOmanifestation_ofimg Primary dysfunction of B-lymphocyte isotype switching and memory B-cell generation C1847384
DISO_to_DISOmanifestation_ofimg Proctitis C0033246
DISO_to_DISOmanifestation_ofimg Recurrent bacterial infections with onset in the first or second year of life C1839980
Genes (5)

Species:
human : 5
SpeciesGeneGeneIdGene NameEvidence
HumanAICDA57379activation-induced cytidine deaminase
img GENERIF, Score=911, Pubmed Id: 15372234, UMLKSK CUI: C0398689
HumanICOS29851inducible T-cell co-stimulator
img GAD, Score=1000, Pubmed Id: 14610488, UMLKSK CUI: C0398689
img GENERIF, Score=1000, Pubmed Id: 14610488, UMLKSK CUI: C0398689
HumanREL5966v-rel avian reticuloendotheliosis viral oncogene homolog
img GENERIF, Score=723, Pubmed Id: 16896156, UMLKSK CUI: C0398689
HumanFCER22208Fc fragment of IgE, low affinity II, receptor for (CD23)
img GENERIF, Score=723, Pubmed Id: 16896156, UMLKSK CUI: C0398689
HumanCD40LG959CD40 ligand
img GENERIF, Score=1000, Pubmed Id: 17360404, UMLKSK CUI: C0398689
img GENERIF, Score=939, Pubmed Id: 11817328, UMLKSK CUI: C0398689
img GAD, Score=1000, Pubmed Id: 10559240, UMLKSK CUI: C0398689
img GENERIF, Score=1000, Pubmed Id: 17106168, UMLKSK CUI: C0398689
img GENERIF, Score=1000, Pubmed Id: 11801691, UMLKSK CUI: C0398689
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0398689Hyper-IgM Immunodeficiency Syndrome, Type 10self