DiseaseID 3251
无丙种球蛋白血症
disease
Agammaglobulinemia, non-Bruton type (autosomal agammaglobulinemia) is a rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with fr
Relationship Network
Interactive first-hop connections across herbs, ingredients, formulas, targets, diseases, symptoms, syndromes, evidence, and monographs.
Click a node to open it in a new tab
Disease: 1Formula: 5Herb: 7Symptom: 12Target: 27Links: 51
Arranging relationship network...
Record Fields
Scalar fields from the final disease record.
- Disease Id
- 3251
- Core Entity Id
- 59434
- Source Entity Count
- 1
- Preferred Name
- Agammaglobulinemia
- Name Cn
- 无丙种球蛋白血症
- Name Pinyin
- Wu Bing Zhong Qiu Dan Bai Xue Zheng
- Name En
- Agammaglobulinemia
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Immune System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic DiseasesImmune System Diseases; Hemic and Lymphatic Diseases
- Do Class
- disease of anatomical entitydisease of anatomical entity; genetic disease
- Hpo Class
- Abnormality of metabolism/homeostasis; Abnormality of the immune system; Abnormal cellular phenotype
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic DiseasesImmune System Diseases; Hemic and Lymphatic Diseases
- Hpo Class Name
- Abnormality of metabolism/homeostasis; Abnormality of the immune system; Abnormal cellular phenotype
- Do Class Name
- disease of anatomical entitygenetic disease; disease of anatomical entity
- Disease Definition
- Agammaglobulinemia, non-Bruton type (autosomal agammaglobulinemia) is a rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with fr
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Agammaglobulinemia
Role
preferred
Name
Agammaglobulinemia 1, Autosomal Recessive
Role
preferred
Name
Agammaglobulinemia 2, Autosomal Recessive
Role
preferred
Name
Agammaglobulinemia 3, Autosomal Recessive
Role
preferred
Name
Agammaglobulinemia 4, Autosomal Recessive
Role
preferred
Name
Agammaglobulinemia 5, Autosomal Dominant
Role
preferred
Name
Agammaglobulinemia 6, Autosomal Recessive
Role
preferred
Name
Agammaglobulinemia 7, Autosomal Recessive
Role
preferred
Name
Agammaglobulinemia 8, Autosomal Dominant
Role
preferred
Name
Agammaglobulinemia, X-Linked
Role
preferred
Name
Hypogammaglobulinemia
Role
preferred
Name
X-Linked Agammaglobulinemia
Role
preferred
Name
X-Linked Hypogammaglobulinemia
Role
preferred
Name
AGAMMAGLOBULINEMIA, X-LINKED, TYPE 2 (disorder)
Role
preferred
Name
Autosomal Agammaglobulinemia
Role
preferred
Name
Decreased Antibody Level In Blood
Role
preferred
Name
AGAMMAGLOBULINEMIA, AUTOSOMAL DOMINANT, DUE TO LRRC8A DEFECT
Role
alias
Name
AGAMMAGLOBULINEMIA, AUTOSOMAL DOMINANT, DUE TO TCF3 DEFECT
Role
alias
Name
AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO BLNK DEFECT
Role
alias
Name
AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO CD79A DEFECT
Role
alias
Name
AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO CD79B DEFECT
Role
alias
Name
AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO IGHM DEFECT
Role
alias
Name
AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO IGLL1 DEFECT
Role
alias
Name
AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO PIK3R1 DEFECT
Role
alias
Name
AGAMMAGLOBULINEMIA, X-LINKED, TYPE 1
Role
alias
Name
AGM1
Role
alias
Name
AGM2
Role
alias
Name
AGM3
Role
alias
Name
AGM4
Role
alias
Name
AGM5
Role
alias
Name
AGM6
Role
alias
Name
AGM7
Role
alias
Name
AGM8
Role
alias
Name
AGMX1
Role
alias
Name
Agammaglobulinaemia
Role
alias
Name
Agammaglobulinemia 4
Role
alias
Name
Agammaglobulinemia 5
Role
alias
Name
Agammaglobulinemia, X-Linked, Type 2
Role
alias
Name
BTK-deficiency
Role
alias
Name
Bruton Type Agammaglobulinemia
Role
alias
Name
Decreased Immunoglobulin Level
Role
alias
Name
Decreased Serum Immunoglobulin
Role
alias
Name
HYPOGAMMAGLOBULINEMIA, X-LINKED
Role
alias
Name
IMD1
Role
alias
Name
IMMUNODEFICIENCY 1
Role
alias
Name
Immunoglobulin Deficiency
Role
alias
Name
Reduced Immunoglobulin Levels
Role
alias
Name
XLA
Role
alias
Name
Xla2
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0004313HP:0004432
Herb
HBDIS000080HBDIS003402HBDIS004558HBDIS005384HBDIS016254HBDIS020621HBDIS020674HBDIS020675HBDIS020676HBDIS020677HBDIS020861HBDIS021894HBDIS025304HBDIS026341
Me Sh
D000361
Omim
300755601495612692613500613501613502613506615214616941
Umls
C0001768C0086438C0221026C0241932C1832241C3150207C3150750C3150751C3150752C3150753C3152144C3554689C4310786
Icd10
D80.0D80.1
Med Dra
10060360
Sym Map
SMDE00722SMDE02501SMDE02955SMDE03013SMDE03211SMDE03231SMDE03663SMDE03971SMDE04267SMDE04777SMDE05150SMDE05630SMDE09695SMDE14395
Do Class
DOID:630DOID:7
Dis Ge Net
C0001768C0086438C0221026C0241932C1845903C3150207C3150750C3150751C3150752C3150753C3152144C3554689C4048270C4310786
Orphanet
3311047
Umls Sty
T033T047
Hpo Class
HP:0001939HP:0002715HP:0025354
Me Sh Class
C15C16C20
Etcm Disease
AgammaglobulinemiaAgammaglobulinemia 1, Autosomal RecessiveAgammaglobulinemia 2, Autosomal RecessiveAgammaglobulinemia 3, Autosomal RecessiveAgammaglobulinemia 4, Autosomal RecessiveAgammaglobulinemia 5, Autosomal DominantAgammaglobulinemia 6, Autosomal RecessiveAgammaglobulinemia 7, Autosomal RecessiveAgammaglobulinemia 8, Autosomal DominantAgammaglobulinemia, X-Linked
Tcmbank Disease
1147613172133271456183782000223812510256872581126293321852337131
Itcmdb Generated
ITX-DISEASE-0B66346EE7C3ITX-DISEASE-107164C50494ITX-DISEASE-2A2FFA7ACD5EITX-DISEASE-48A46A428AC4ITX-DISEASE-4CE0A9AFA5A4ITX-DISEASE-7AC038A07868ITX-DISEASE-96D115F00E31ITX-DISEASE-AA64B1A2E5D0ITX-DISEASE-B7DE76088A8CITX-DISEASE-B82BC5C774A9ITX-DISEASE-BF1225CE0ED0ITX-DISEASE-CCFABCCC7D9BITX-DISEASE-DE95D8D4337AITX-DISEASE-EA2B18398D95
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v1,v2v2
Suppress
0
Page Title
Disease Agammaglobulinemia 1, Autosomal Recessive Details pageDisease Agammaglobulinemia 2, Autosomal Recessive Details pageDisease Agammaglobulinemia 3, Autosomal Recessive Details pageDisease Agammaglobulinemia 4, Autosomal Recessive Details pageDisease Agammaglobulinemia 5, Autosomal Dominant Details pageDisease Agammaglobulinemia 6, Autosomal Recessive Details pageDisease Agammaglobulinemia 7, Autosomal Recessive Details pageDisease Agammaglobulinemia 8, Autosomal Dominant Details pageDisease Agammaglobulinemia Details pageDisease Agammaglobulinemia, X-Linked Details page
Do Class Name
disease of anatomical entitygenetic disease; disease of anatomical entity
Disease Type
diseasephenotype
Hpo Class Name
Abnormality of metabolism/homeostasis; Abnormality of the immune system; Abnormal cellular phenotype
Do Disease Class
disease of anatomical entitydisease of anatomical entity; genetic disease
Hpo Disease Class
Abnormality of metabolism/homeostasis; Abnormality of the immune system; Abnormal cellular phenotype
Umls Disease Type
Disease or SyndromeFinding
Basic Information
Disease Name
Agammaglobulinemia
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Blood diseases;Immune diseases
Disease Name
Agammaglobulinemia 1, Autosomal Recessive
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Blood diseases;Immune diseases
Disease Name
Agammaglobulinemia 2, Autosomal Recessive
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Blood diseases;Immune diseases
Disease Name
Agammaglobulinemia 3, Autosomal Recessive
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Blood diseases;Immune diseases
Disease Name
Agammaglobulinemia 4, Autosomal Recessive
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Blood diseases;Immune diseases
Disease Name
Agammaglobulinemia 5, Autosomal Dominant
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Blood diseases;Immune diseases
Disease Name
Agammaglobulinemia 6, Autosomal Recessive
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Blood diseases;Immune diseases
Disease Name
Agammaglobulinemia 7, Autosomal Recessive
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Blood diseases;Immune diseases
Disease Name
Agammaglobulinemia 8, Autosomal Dominant
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Blood diseases;Immune diseases
Disease Name
Agammaglobulinemia, X-Linked
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Blood diseases;Immune diseases
Disease Definition
Agammaglobulinemia, non-Bruton type (autosomal agammaglobulinemia) is a rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with frNCI2016_02D:X-linked agammaglobulinemia. An immunodeficiency state characterized (usually) by profoundly low concentrations of serum immunoglobulins of all classes, although occasionally significant amounts of one or more isotypes can be found. The fundamental defect in XLA affects early lineage B cells.SNOMEDCT_US_2016_09_01:Absence of the gamma fraction of serum globulin|MSH2017_2016_08_12:An immunologic deficiency state characterized by an extremely low level of generally all classes of gamma-globulin in the blood.|HPO2016_07_04:Absence or extremely low level of generally all classes of gamma-globulin in the blood. [HPO:probinson]SNOMEDCT_US_2016_09_01:Decreased concentration of the gamma fraction of serum globulin|NCI2016_NCI-GLOSS_1602D:A condition in which the level of immunoglobulins (antibodies) in the blood is low and the risk of infection is high.|NCI2016_02D:A decreased level of serum immunoglobulins. It may be inherited or acquired. It is caused by decreased or inefficient production of immunoglobulins from B cells or by a decrease in the numbers of B cells themselves. Low levels of immunoglobulins will affect the immune system's ability to combat bacterial infection. Supplementation of immunoglobulins is needed to prevent worsening outcomes.|CSP2006:condition characterized by abnormally low levels of all classes of gamma globulins in the blood.X-linked agammaglobulinemia (XLA) is a clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder (see this term), and is characterized in affected males by recurr
Me Sh Disease Class
Immune System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic DiseasesImmune System Diseases; Hemic and Lymphatic Diseases
Dis Ge Net Disease Type
diseasephenotype
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic DiseasesImmune System Diseases; Hemic and Lymphatic Diseases
Umls Semantic Type Name
Disease or SyndromeFinding