Phenotypes associated with the disease complement component 4b deficiency (OMIM:614379):
- Meningitis (HP:0001287): Inflammation of the meninges. Evidence: IEA. (OMIM:614379)
- Asthma (HP:0002099): Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing. Evidence: PCS. Frequency: 1/1. Onset: Infantile onset (HP:0003593). (PMID:1401055)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 1/1. (PMID:1401055)
- Recurrent otitis media (HP:0000403): Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media. Evidence: PCS. Frequency: 1/1. Onset: Childhood onset (HP:0011463). (PMID:1401055)
- Decreased circulating complement C4b concentration (HP:0045044): Concentration of the complement component C4b in the blood circulation below the lower limit of normal. Evidence: PCS. Frequency: 1/1. (PMID:1401055)
- Recurrent pneumonia (HP:0006532): An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia. Evidence: PCS. Frequency: 1/1. Onset: Childhood onset (HP:0011463). (PMID:1401055)
- Chronic active hepatitis (HP:0200120): Chronic hepatitis associated with recurrent clinical exacerbations, extrahepatic manifestations, and progression to cirrhosis. Evidence: IEA. (OMIM:614379)
- Recurrent sinusitis (HP:0011108): A recurrent form of sinusitis. Evidence: PCS. Frequency: 1/1. Onset: Childhood onset (HP:0011463). (PMID:1401055)
- Chronic diarrhea (HP:0002028): The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks. Evidence: PCS. Frequency: 1/1. Onset: Infantile onset (HP:0003593). (PMID:1401055)