Clinical Signs and Symptoms
ORPHA:47 X-linked agammaglobulinemia
The phenotypic description of this disease is based on an analysis of the biomedical literature and uses the terms of the Human Phenotype Ontology (HPO). Phenotypic abnormalities are presented by order of frequency of occurrence in the patient population, then by alphabetical order inside each frequency group.
- Abnormality of the lymphatic system HP:0100763
- Abnormality of the tonsils HP:0100765
- Agammaglobulinemia HP:0004432
- Chronic diarrhea HP:0002028
- Chronic otitis media HP:0000389
- Conjunctivitis HP:0000509
- Failure to thrive HP:0001508
- Fatigue HP:0012378
- Fever HP:0001945
- Glossoptosis HP:0000162
- Immunodeficiency HP:0002721
- Recurrent cutaneous abscess formation HP:0100838
- Recurrent pneumonia HP:0006532
- Short stature HP:0004322
- Sinusitis HP:0000246
- Skin rash HP:0000988
- Skin ulcer HP:0200042
Very frequent
- Abnormal lung morphology HP:0002088
- Arthritis HP:0001369
- Cellulitis HP:0100658
- Hypocalcemia HP:0002901
- Meningitis HP:0001287
- Neutropenia HP:0001875
- Sensorineural hearing impairment HP:0000407
- Sepsis HP:0100806
Frequent
- Alopecia HP:0001596
- Anemia HP:0001903
- Autoimmunity HP:0002960
- Hepatitis HP:0012115
- Hypopigmented skin patches HP:0001053
- Malabsorption HP:0002024
- Neoplasm HP:0002664
- Osteomyelitis HP:0002754
- Thrombocytopenia HP:0001873
- Weight loss HP:0001824
Occasional
Additional information
Further information
Specialised Social Services
Warning
The information provided is based on published scientific articles.
The information provided is estimated for the entire population of patients in routine care. Some phenotypic abnormalities reported here may occur individually with a variable temporality or severity, while others, not listed, may still be encountered. Phenotypic annotations are not yet available for all rare diseases; the annotation process is ongoing.
The information contained in Orphanet is regularly updated. It is possible that discoveries have been made since the last update and have not yet been incorporated.
Professionals are encouraged to always consult the latest scientific publications before making a decision based on the information provided. The information contained in Orphanet is not intended to replace the services of a healthcare professional. Orphanet cannot be held responsible for the deleterious, truncated or erroneous use of any information found in the Orphanet database.