Phenotypes associated with the disease properdin deficiency, X-linked (OMIM:312060):
- Dysfunctional alternative complement pathway (HP:0005423): An abnormality of the functioning of any aspect of the alternative complement pathway. Evidence: IEA. (OMIM:312060)
- X-linked recessive inheritance (HP:0001419): A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. Evidence: PCS. (PMID:8530058)
- Abnormal circulating properdin concentration (HP:0031300): Any deviation from the normal concentration of properdin in the blood circulation. Evidence: PCS. (PMID:8530058)