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Pediatric Disease Annotations & Medicines



   agammaglobulinemia
  

Disease ID 455
Disease agammaglobulinemia
Definition
An immunologic deficiency state characterized by an extremely low level of generally all classes of gamma-globulin in the blood.
Synonym
agammaglobulinaemia
agammaglobulinaemia -retired-
agammaglobulinemia (disorder)
agammaglobulinemia (finding)
agammaglobulinemia -retired-
agammaglobulinemia [disease/finding]
agammaglobulinemia nos
agammaglobulinemia, nos
agammaglobulinemias
Orphanet
DOID
UMLS
C0001768
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:17)
C0553662  |  juvenile idiopathic arthritis  |  2
C0003864  |  arthritis  |  2
C0008049  |  varicella  |  1
C0035021  |  recurrent fever  |  1
C0023434  |  b-cell leukemia  |  1
C0032285  |  pneumonia  |  1
C0013421  |  dystonia  |  1
C0002986  |  fabry's disease  |  1
C0014038  |  encephalitis  |  1
C0023418  |  leukemias  |  1
C0085652  |  pyoderma gangrenosum  |  1
C0023448  |  lymphoblastic leukemia  |  1
C0024291  |  hemophagocytic syndrome  |  1
C0023449  |  acute lymphoblastic leukemia  |  1
C0013338  |  growth hormone deficiency  |  1
C0002726  |  amyloidosis  |  1
C0034212  |  pyoderma  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:14)
BTK  |  695  |  CTD_human;GHR
CD81  |  975  |  GHR
NFKB2  |  4791  |  GHR
LRBA  |  987  |  GHR
ICOS  |  29851  |  GHR
TNFRSF13C  |  115650  |  GHR
TNFRSF13B  |  23495  |  GHR
PRKCD  |  5580  |  GHR
MS4A1  |  931  |  GHR
CR2  |  1380  |  GHR
LRRC8A  |  56262  |  CTD_human
CD19  |  930  |  CTD_human;GHR
CD79A  |  973  |  CTD_human
IGLL1  |  3543  |  CTD_human
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:2)
695  |  BTK  |  infer
23495  |  TNFRSF13B  |  infer
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:252)
3097  |  HIVEP2  |  DISEASES
3937  |  LCP2  |  DISEASES
608  |  TNFRSF17  |  DISEASES
933  |  CD22  |  DISEASES
30009  |  TBX21  |  DISEASES
201294  |  UNC13D  |  DISEASES
6948  |  TCN2  |  DISEASES
129138  |  ANKRD54  |  DISEASES
3002  |  GZMB  |  DISEASES
51311  |  TLR8  |  DISEASES
79650  |  USB1  |  DISEASES
55192  |  DNAJC17  |  DISEASES
6813  |  STXBP2  |  DISEASES
2217  |  FCGRT  |  DISEASES
973  |  CD79A  |  DISEASES
29760  |  BLNK  |  DISEASES
1440  |  CSF3  |  DISEASES
952  |  CD38  |  DISEASES
4790  |  NFKB1  |  DISEASES
3558  |  IL2  |  DISEASES
6688  |  SPI1  |  DISEASES
969  |  CD69  |  DISEASES
3458  |  IFNG  |  DISEASES
57379  |  AICDA  |  DISEASES
3820  |  KLRB1  |  DISEASES
9841  |  ZBTB24  |  DISEASES
3565  |  IL4  |  DISEASES
3567  |  IL5  |  DISEASES
604  |  BCL6  |  DISEASES
7841  |  MOGS  |  DISEASES
5341  |  PLEK  |  DISEASES
6402  |  SELL  |  DISEASES
9525  |  VPS4B  |  DISEASES
7374  |  UNG  |  DISEASES
970  |  CD70  |  DISEASES
718  |  C3  |  DISEASES
1236  |  CCR7  |  DISEASES
51119  |  SBDS  |  DISEASES
5199  |  CFP  |  DISEASES
5880  |  RAC2  |  DISEASES
6382  |  SDC1  |  DISEASES
4064  |  CD180  |  DISEASES
2694  |  GIF  |  DISEASES
3431  |  SP110  |  DISEASES
3569  |  IL6  |  DISEASES
640  |  BLK  |  DISEASES
56262  |  LRRC8A  |  DISEASES
7097  |  TLR2  |  DISEASES
10113  |  PREB  |  DISEASES
4069  |  LYZ  |  DISEASES
23495  |  TNFRSF13B  |  DISEASES
51816  |  CECR1  |  DISEASES
6929  |  TCF3  |  DISEASES
975  |  CD81  |  DISEASES
3574  |  IL7  |  DISEASES
2208  |  FCER2  |  DISEASES
5000  |  ORC4  |  DISEASES
941  |  CD80  |  DISEASES
7294  |  TXK  |  DISEASES
6476  |  SI  |  DISEASES
59067  |  IL21  |  DISEASES
55247  |  NEIL3  |  DISEASES
6774  |  STAT3  |  DISEASES
10016  |  PDCD6  |  DISEASES
7535  |  ZAP70  |  DISEASES
7982  |  ST7  |  DISEASES
311  |  ANXA11  |  DISEASES
10312  |  TCIRG1  |  DISEASES
939  |  CD27  |  DISEASES
7112  |  TMPO  |  DISEASES
963  |  CD53  |  DISEASES
2212  |  FCGR2A  |  DISEASES
83417  |  FCRL4  |  DISEASES
3707  |  ITPKB  |  DISEASES
5295  |  PIK3R1  |  DISEASES
3578  |  IL9  |  DISEASES
3439  |  IFNA1  |  DISEASES
56832  |  IFNK  |  DISEASES
57689  |  LRRC4C  |  DISEASES
51594  |  NBAS  |  DISEASES
925  |  CD8A  |  DISEASES
715  |  C1R  |  DISEASES
115650  |  TNFRSF13C  |  DISEASES
326  |  AIRE  |  DISEASES
89858  |  SIGLEC12  |  DISEASES
643  |  CXCR5  |  DISEASES
6154  |  RPL26  |  DISEASES
2215  |  FCGR3B  |  DISEASES
213  |  ALB  |  DISEASES
3600  |  IL15  |  DISEASES
7098  |  TLR3  |  DISEASES
1437  |  CSF2  |  DISEASES
819  |  CAMLG  |  DISEASES
5896  |  RAG1  |  DISEASES
55718  |  POLR3E  |  DISEASES
3688  |  ITGB1  |  DISEASES
1493  |  CTLA4  |  DISEASES
3596  |  IL13  |  DISEASES
25998  |  IBTK  |  DISEASES
84522  |  JAGN1  |  DISEASES
3575  |  IL7R  |  DISEASES
6504  |  SLAMF1  |  DISEASES
80131  |  LRRC8E  |  DISEASES
4247  |  MGAT2  |  DISEASES
27087  |  B3GAT1  |  DISEASES
695  |  BTK  |  DISEASES
5897  |  RAG2  |  DISEASES
660  |  BMX  |  DISEASES
8763  |  CD164  |  DISEASES
947  |  CD34  |  DISEASES
2000  |  ELF4  |  DISEASES
8832  |  CD84  |  DISEASES
931  |  MS4A1  |  DISEASES
23075  |  SWAP70  |  DISEASES
4684  |  NCAM1  |  DISEASES
91662  |  NLRP12  |  DISEASES
29851  |  ICOS  |  DISEASES
80381  |  CD276  |  DISEASES
2969  |  GTF2I  |  DISEASES
55  |  ACPP  |  DISEASES
4289  |  MKLN1  |  DISEASES
84901  |  NFATC2IP  |  DISEASES
55763  |  EXOC1  |  DISEASES
1789  |  DNMT3B  |  DISEASES
3543  |  IGLL1  |  DISEASES
1850  |  DUSP8  |  DISEASES
8519  |  IFITM1  |  DISEASES
5580  |  PRKCD  |  DISEASES
10320  |  IKZF1  |  DISEASES
942  |  CD86  |  DISEASES
23545  |  ATP6V0A2  |  DISEASES
25987  |  TSKU  |  DISEASES
23507  |  LRRC8B  |  DISEASES
79087  |  ALG12  |  DISEASES
91582  |  RPS19BP1  |  DISEASES
9094  |  UNC119  |  DISEASES
3932  |  LCK  |  DISEASES
50615  |  IL21R  |  DISEASES
55144  |  LRRC8D  |  DISEASES
921  |  CD5  |  DISEASES
8741  |  TNFSF13  |  DISEASES
3605  |  IL17A  |  DISEASES
2624  |  GATA2  |  DISEASES
2534  |  FYN  |  DISEASES
331  |  XIAP  |  DISEASES
355  |  FAS  |  DISEASES
5265  |  SERPINA1  |  DISEASES
8510  |  MMP23B  |  DISEASES
79840  |  NHEJ1  |  DISEASES
3981  |  LIG4  |  DISEASES
987  |  LRBA  |  DISEASES
5079  |  PAX5  |  DISEASES
6714  |  SRC  |  DISEASES
51592  |  TRIM33  |  DISEASES
57480  |  PLEKHG1  |  DISEASES
2213  |  FCGR2B  |  DISEASES
5336  |  PLCG2  |  DISEASES
6693  |  SPN  |  DISEASES
60509  |  AGBL5  |  DISEASES
4311  |  MME  |  DISEASES
54106  |  TLR9  |  DISEASES
6772  |  STAT1  |  DISEASES
84061  |  MAGT1  |  DISEASES
919  |  CD247  |  DISEASES
359948  |  IRF2BP2  |  DISEASES
1380  |  CR2  |  DISEASES
5788  |  PTPRC  |  DISEASES
8676  |  STX11  |  DISEASES
2214  |  FCGR3A  |  DISEASES
28956  |  LAMTOR2  |  DISEASES
4942  |  OAT  |  DISEASES
639  |  PRDM1  |  DISEASES
914  |  CD2  |  DISEASES
965  |  CD58  |  DISEASES
1847  |  DUSP5  |  DISEASES
8517  |  IKBKG  |  DISEASES
537  |  ATP6AP1  |  DISEASES
4791  |  NFKB2  |  DISEASES
84230  |  LRRC8C  |  DISEASES
959  |  CD40LG  |  DISEASES
4068  |  SH2D1A  |  DISEASES
774  |  CACNA1B  |  DISEASES
64170  |  CARD9  |  DISEASES
958  |  CD40  |  DISEASES
100  |  ADA  |  DISEASES
1678  |  TIMM8A  |  DISEASES
54457  |  TAF7L  |  DISEASES
310  |  ANXA7  |  DISEASES
5230  |  PGK1  |  DISEASES
4153  |  MBL2  |  DISEASES
7099  |  TLR4  |  DISEASES
3561  |  IL2RG  |  DISEASES
4439  |  MSH5  |  DISEASES
6850  |  SYK  |  DISEASES
10673  |  TNFSF13B  |  DISEASES
50943  |  FOXP3  |  DISEASES
7133  |  TNFRSF1B  |  DISEASES
7454  |  WAS  |  DISEASES
3105  |  HLA-A  |  DISEASES
5293  |  PIK3CD  |  DISEASES
3604  |  TNFRSF9  |  DISEASES
8718  |  TNFRSF25  |  DISEASES
11332  |  ACOT7  |  DISEASES
6520  |  SLC3A2  |  DISEASES
9308  |  CD83  |  DISEASES
7293  |  TNFRSF4  |  DISEASES
3559  |  IL2RA  |  DISEASES
51284  |  TLR7  |  DISEASES
7006  |  TEC  |  DISEASES
9751  |  SNPH  |  DISEASES
7932  |  OR2H2  |  DISEASES
9467  |  SH3BP5  |  DISEASES
974  |  CD79B  |  DISEASES
2051  |  EPHB6  |  DISEASES
5450  |  POU2AF1  |  DISEASES
6387  |  CXCL12  |  DISEASES
84433  |  CARD11  |  DISEASES
2868  |  GRK4  |  DISEASES
3119  |  HLA-DQB1  |  DISEASES
25780  |  RASGRP3  |  DISEASES
23308  |  ICOSLG  |  DISEASES
7441  |  VPREB1  |  DISEASES
55660  |  PRPF40A  |  DISEASES
7852  |  CXCR4  |  DISEASES
3120  |  HLA-DQB2  |  DISEASES
51135  |  IRAK4  |  DISEASES
3718  |  JAK3  |  DISEASES
113235  |  SLC46A1  |  DISEASES
720  |  C4A  |  DISEASES
55683  |  KANSL3  |  DISEASES
3702  |  ITK  |  DISEASES
7124  |  TNF  |  DISEASES
4615  |  MYD88  |  DISEASES
4049  |  LTA  |  DISEASES
147372  |  CCBE1  |  DISEASES
81704  |  DOCK8  |  DISEASES
3586  |  IL10  |  DISEASES
27180  |  SIGLEC9  |  DISEASES
721  |  C4B  |  DISEASES
6434  |  TRA2B  |  DISEASES
135656  |  DPCR1  |  DISEASES
56244  |  BTNL2  |  DISEASES
51428  |  DDX41  |  DISEASES
4067  |  LYN  |  DISEASES
5333  |  PLCD1  |  DISEASES
2870  |  GRK6  |  DISEASES
727897  |  MUC5B  |  DISEASES
930  |  CD19  |  DISEASES
567  |  B2M  |  DISEASES
8792  |  TNFRSF11A  |  DISEASES
7409  |  VAV1  |  DISEASES
100151683  |  RNU4ATAC  |  DISEASES
Locus(Waiting for update.)
Disease ID 455
Disease agammaglobulinemia
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:14)
HP:0005681  |  Juvenile idiopathic arthritis  |  2
HP:0001369  |  Arthritis  |  2
HP:0002090  |  Pneumonia  |  1
HP:0005764  |  Polyarticular arthritis  |  1
HP:0001300  |  Parkinsonism  |  1
HP:0006721  |  Acute lymphocytic leukemia  |  1
HP:0001917  |  Renal amyloidosis  |  1
HP:0011034  |  Amyloid disease  |  1
HP:0001332  |  Dystonia  |  1
HP:0002383  |  Encephalitis  |  1
HP:0001510  |  Growth deficiency  |  1
HP:0000824  |  Growth hormone deficiency  |  1
HP:0000365  |  Hearing impairment  |  1
HP:0000999  |  Pyoderma  |  1
Disease ID 455
Disease agammaglobulinemia
Manually Symptom
UMLS  | Name(Total Manually Symptoms:23)
C2697310  |  sarcoidosis
C2364133  |  infection
C1963165  |  malabsorption
C1611280  |  allergy
C0877266  |  upper respiratory tract inflammation
C0497156  |  lymphadenopathy
C0276430  |  enteroviral meningitis
C0238051  |  cerebral vasculitis
C0162323  |  polyarthritis
C0042216  |  vaccinia
C0032371  |  polio
C0032285  |  pneumonia
C0025309  |  meningoencephalitis
C0024299  |  lymphoma
C0024115  |  pneumopathy
C0021831  |  enteropathy
C0014038  |  encephalitis
C0013533  |  echovirus infections
C0010246  |  coxsackievirus infection
C0009782  |  connective tissue diseases
C0004610  |  bacteremia
C0003864  |  arthritis
C0000809  |  recurrent abortions
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:5)
C0003864  |  arthritis  |  2
C0014038  |  encephalitis  |  1
C0162323  |  polyarthritis  |  1
C0009450  |  infection  |  1
C0032285  |  pneumonia  |  1
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:0)
(Waiting for update.)
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.)
Chemical(Total Drugs:0)
(Waiting for update.)
FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)
FDA labeling changes(Total Drugs:0)
(Waiting for update.)