Human Phenotype Ontology 
Grandparent Node:
expandAbnormality of complement system (HP:0005339)help
Parent Node:
expandComplement deficiency (HP:0004431)help
..Starting node
..expandDecreased serum complement C4 (HP:0045042)help
Term ID: 45042
Name: Decreased serum complement C4
Synonym: Decreased serum complement C4 level
Definition: A reduced level of the complement component C4 in the circulation.
Comments:
Reference: HP:0045042
Genes and Diseases:
 
       Child Nodes:
........expandDecreased serum complement C4a (HP:0045043) help
........expandDecreased serum complement C4b (HP:0045044) help

 Sister Nodes: 
..expandDecreased serum complement C3 (HP:0005421) help
..expandDecreased serum complement C8 (HP:0004434) help
..expandDecreased serum complement C9 (HP:0012308) help
..expandDecreased serum complement factor B (HP:0005416) help
..expandDecreased serum complement factor H (HP:0005369) help
..expandDecreased serum complement factor I (HP:0005356) help
..expandPartial functional complement factor D deficiency (HP:0008338) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0045042HP:0045042Decreased serum complement C40C4A CL E G H7201323OMIM:614380Complement component 4A deficiency.1
HP:0045042HP:0045042Decreased serum complement C40C4B CL E G H7211324OMIM:614379Complement component 4B deficiency1
HP:0045042HP:0045042Decreased serum complement C40DNASE1L3 CL E G H17762959OMIM:614420Systemic lupus erythematosus 163
HP:0045042HP:0045042Decreased serum complement C40IRAK1 CL E G H36546112ORPHA:93552Pediatric systemic lupus erythematosusHP:0040281 - Very frequent
HP:0045042HP:0045042Decreased serum complement C40PRKCD CL E G H55809399OMIM:615559AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS310
HP:0045042HP:0045042Decreased serum complement C40SERPING1 CL E G H7101228OMIM:106100Angioedema, hereditary, 164
HP:0045042HP:0045042Decreased serum complement C40SPP1 CL E G H669611255ORPHA:93552Pediatric systemic lupus erythematosusHP:0040281 - Very frequent
HP:0045042HP:0045042Decreased serum complement C40STAT4 CL E G H677511365ORPHA:93552Pediatric systemic lupus erythematosusHP:0040281 - Very frequent2
HP:0045042HP:0045042Decreased serum complement C40TLR7 CL E G H5128415631OMIM:301080
HP:0045042HP:0045043Decreased serum complement C4a1 CL E G H
HP:0045042HP:0045044Decreased serum complement C4b1C4B CL E G H7211324OMIM:614379Complement component 4B deficiency.1


Genes (9) :C4A C4B DNASE1L3 IRAK1 PRKCD SERPING1 SPP1 STAT4 TLR7

Diseases (7) :OMIM:614380 OMIM:614379 OMIM:614420 ORPHA:93552 OMIM:615559 OMIM:106100 OMIM:301080
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.