Phenotype: Abnormal circulating IgE concentration (HP:0410241)
Associated genes and diseases:
gene_symbol: ADA
disease_id: ORPHA:277
disease_name: Severe combined immunodeficiency due to adenosine deaminase deficiency
ADA deficiency
SCID due to adenosine deaminase deficiency
gene_symbol: ADA
disease_id: OMIM:102700
disease_name: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY
gene_symbol: EXTL3
disease_id: ORPHA:508533
disease_name: Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
EXTL3-related neuro-immuno-skeletal dysplasia syndrome
Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency
gene_symbol: CARD9
disease_id: OMIM:212050
disease_name: CANDIDIASIS, FAMILIAL, 2
gene_symbol: FAS
disease_id: ORPHA:3261
disease_name: Autoimmune lymphoproliferative syndrome
ALPS
Canale-Smith syndrome
gene_symbol: FASLG
disease_id: ORPHA:3261
disease_name: Autoimmune lymphoproliferative syndrome
ALPS
Canale-Smith syndrome
gene_symbol: CASP10
disease_id: ORPHA:3261
disease_name: Autoimmune lymphoproliferative syndrome
ALPS
Canale-Smith syndrome
gene_symbol: WAS
disease_id: OMIM:301000
disease_name: WISKOTT-ALDRICH SYNDROME
gene_symbol: WAS
disease_id: OMIM:313900
disease_name: THROMBOCYTOPENIA 1
gene_symbol: NCKAP1L
disease_id: OMIM:618982
disease_name: IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION
gene_symbol: IL6ST
disease_id: OMIM:619752
disease_name: HYPER-IgE SYNDROME 4A, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS
gene_symbol: IL6ST
disease_id: OMIM:618523
disease_name: HYPER-IgE RECURRENT INFECTION SYNDROME 4, AUTOSOMAL RECESSIVE
gene_symbol: CARD10
disease_id: OMIM:619632
disease_name: IMMUNODEFICIENCY 89 AND AUTOIMMUNITY
gene_symbol: IPO8
disease_id: OMIM:619472
disease_name: VISS SYNDROME
gene_symbol: POLD3
disease_id: OMIM:620869
disease_name: OMIM:620869
gene_symbol: CDSN
disease_id: ORPHA:90368
disease_name: Hypotrichosis simplex of the scalp
Hereditary hypotrichosis simplex of the scalp
gene_symbol: CDSN
disease_id: OMIM:270300
disease_name: PEELING SKIN SYNDROME 1
gene_symbol: KRT74
disease_id: ORPHA:90368
disease_name: Hypotrichosis simplex of the scalp
Hereditary hypotrichosis simplex of the scalp
gene_symbol: STAT5B
disease_id: OMIM:618985
disease_name: GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 2, AUTOSOMAL DOMINANT
gene_symbol: PGM3
disease_id: ORPHA:443811
disease_name: PGM3-CDG
CID due to PGM3 deficiency
Combined immunodeficiency due to PGM3 deficiency
PGM3-related congenital disorder of glycosylation
gene_symbol: PGM3
disease_id: OMIM:615816
disease_name: IMMUNODEFICIENCY 23
gene_symbol: IL6R
disease_id: OMIM:618944
disease_name: HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE
gene_symbol: FOXP3
disease_id: OMIM:304790
disease_name: IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED
gene_symbol: FOXP3
disease_id: ORPHA:37042
disease_name: Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
Autoimmune enteropathy type 1
IPEX
gene_symbol: KRT9
disease_id: OMIM:144200
disease_name: PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC
gene_symbol: IL7R
disease_id: ORPHA:169154
disease_name: T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
T-B+ SCID due to IL-7Ralpha deficiency
gene_symbol: STAT3
disease_id: OMIM:147060
disease_name: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
gene_symbol: STAT3
disease_id: ORPHA:2314
disease_name: Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency
AD-HIES due to STAT3 deficiency
Autosomal dominant HIES due to STAT3 deficiency
Autosomal dominant hyperimmunoglobulin E syndrome due to signal transducer and activator of transcription 3 protein deficiency
Buckley syndrome
Job syndrome
gene_symbol: COL7A1
disease_id: ORPHA:89843
disease_name: Dystrophic epidermolysis bullosa pruriginosa
DEB pruriginosa
DEB-Pr
Pruriginous dystrophic epidermolysis bullosa
gene_symbol: SPINK5
disease_id: OMIM:256500
disease_name: NETHERTON SYNDROME
gene_symbol: SPINK5
disease_id: ORPHA:634
disease_name: Netherton syndrome
Bamboo hair syndrome
Comèl-Netherton syndrome
NS
gene_symbol: TYK2
disease_id: OMIM:611521
disease_name: IMMUNODEFICIENCY 35
gene_symbol: IL21
disease_id: OMIM:615767
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 11
gene_symbol: IRAK4
disease_id: OMIM:607676
disease_name: IMMUNODEFICIENCY 67
gene_symbol: ZNF341
disease_id: OMIM:618282
disease_name: HYPER-IgE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE
gene_symbol: GPC4
disease_id: ORPHA:373
disease_name: Simpson-Golabi-Behmel syndrome
DGSX
Golabi-Rosen syndrome
SDYS
SGBS
SGBS1
Simpson dysmorphia syndrome
Simpson-Golabi-Behmel syndrome type 1
X-linked dysplasia gigantism syndrome
gene_symbol: GPC3
disease_id: ORPHA:373
disease_name: Simpson-Golabi-Behmel syndrome
DGSX
Golabi-Rosen syndrome
SDYS
SGBS
SGBS1
Simpson dysmorphia syndrome
Simpson-Golabi-Behmel syndrome type 1
X-linked dysplasia gigantism syndrome
gene_symbol: DOCK11
disease_id: OMIM:301109
disease_name: AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED
gene_symbol: EGFR
disease_id: OMIM:616069
disease_name: INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2
gene_symbol: CD247
disease_id: OMIM:610163
disease_name: IMMUNODEFICIENCY 25
gene_symbol: SLC19A1
disease_id: OMIM:620603
disease_name: IMMUNODEFICIENCY 114, FOLATE-RESPONSIVE
gene_symbol: CARD11
disease_id: OMIM:617638
disease_name: IMMUNODEFICIENCY 11B WITH ATOPIC DERMATITIS
gene_symbol: ADAM17
disease_id: OMIM:614328
disease_name: INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1
gene_symbol: ARPC5
disease_id: OMIM:620565
disease_name: IMMUNODEFICIENCY 113 WITH AUTOIMMUNITY AND AUTOINFLAMMATION
gene_symbol: DCLRE1C
disease_id: OMIM:602450
disease_name: SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION
gene_symbol: DOCK8
disease_id: OMIM:243700
disease_name: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE
gene_symbol: DOCK8
disease_id: ORPHA:217390
disease_name: Combined immunodeficiency due to DOCK8 deficiency
CID due to DOCK8 deficiency
Combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency
DOCK8 immunodeficiency syndrome
gene_symbol: NSMCE3
disease_id: OMIM:617241
disease_name: LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME
gene_symbol: TGFB1
disease_id: OMIM:618213
disease_name: INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY
gene_symbol: DSG1
disease_id: OMIM:615508
disease_name: ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER-IgE
gene_symbol: STAT6
disease_id: OMIM:620532
disease_name: HYPER-IgE SYNDROME 6, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS
gene_symbol: IKBKG
disease_id: ORPHA:98813
disease_name: Hypohidrotic ectodermal dysplasia with immunodeficiency
Anhidrotic ectodermal dysplasia with immunodeficiency
EDA-ID
HED-ID
gene_symbol: NFKBIA
disease_id: ORPHA:98813
disease_name: Hypohidrotic ectodermal dysplasia with immunodeficiency
Anhidrotic ectodermal dysplasia with immunodeficiency
EDA-ID
HED-ID
gene_symbol: IL2RA
disease_id: OMIM:606367
disease_name: IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY
gene_symbol: LCK
disease_id: OMIM:615758
disease_name: IMMUNODEFICIENCY 22
gene_symbol: CD40
disease_id: OMIM:606843
disease_name: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 3
gene_symbol: TCF3
disease_id: OMIM:619824
disease_name: AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE
gene_symbol: BTK
disease_id: OMIM:300755
disease_name: AGAMMAGLOBULINEMIA, X-LINKED
gene_symbol: TOM1
disease_id: OMIM:619510
disease_name: IMMUNODEFICIENCY 85 AND AUTOIMMUNITY
gene_symbol: IL2RG
disease_id: OMIM:300400
disease_name: SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED
gene_symbol: CD40LG
disease_id: OMIM:308230
disease_name: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1
gene_symbol: BACH2
disease_id: OMIM:618394
disease_name: IMMUNODEFICIENCY 60
gene_symbol: PDCD1
disease_id: OMIM:621004
disease_name: OMIM:621004