Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormality of complement system (HP:0005339)

Parent Node:
Complement deficiency (HP:0004431)

..Starting node
..Decreased serum complement C3 (HP:0005421)

Term ID:

5421

Name:

Decreased serum complement C3

Synonym:

Decreased serum C3; Decreased serum complement C3 level

Definition:

A reduced level of the complement component C3 in circulation.

Comments:

Reference:

HP:0005421

Genes and Diseases:

Child Nodes:

Sister Nodes:

Decreased serum complement C4 (HP:0045042)

Decreased serum complement C8 (HP:0004434)

Decreased serum complement C9 (HP:0012308)

Decreased serum complement factor B (HP:0005416)

Decreased serum complement factor H (HP:0005369)

Decreased serum complement factor I (HP:0005356)

Partial functional complement factor D deficiency (HP:0008338)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0005421	HP:0005421	Decreased serum complement C3	0	C3 CL E G H	718	1318	OMIM:613779	Complement component 3 deficiency, autosomal recessive	.	92
HP:0005421	HP:0005421	Decreased serum complement C3	0	C3 CL E G H	718	1318	OMIM:612925	Hemolytic uremic syndrome, atypical, susceptibility to, 5		92
HP:0005421	HP:0005421	Decreased serum complement C3	0	CD46 CL E G H	4179	6953	OMIM:612922	Hemolytic uremic syndrome, atypical, susceptibility to, 2		39
HP:0005421	HP:0005421	Decreased serum complement C3	0	CFH CL E G H	3075	4883	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.	86
HP:0005421	HP:0005421	Decreased serum complement C3	0	CFHR1 CL E G H	3078	4888	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.
HP:0005421	HP:0005421	Decreased serum complement C3	0	CFHR3 CL E G H	10878	16980	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.
HP:0005421	HP:0005421	Decreased serum complement C3	0	CFI CL E G H	3426	5394	OMIM:610984	Complement factor I deficiency	.	57
HP:0005421	HP:0005421	Decreased serum complement C3	0	CFI CL E G H	3426	5394	OMIM:612923	Hemolytic uremic syndrome, atypical, susceptibility to, 3		57
HP:0005421	HP:0005421	Decreased serum complement C3	0	DNASE1L3 CL E G H	1776	2959	OMIM:614420	Systemic lupus erythematosus 16		3
HP:0005421	HP:0005421	Decreased serum complement C3	0	IRAK1 CL E G H	3654	6112	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040281 - Very frequent
HP:0005421	HP:0005421	Decreased serum complement C3	0	LMNB2 CL E G H	84823	6638	ORPHA:79087	Acquired partial lipodystrophy	HP:0040282 - Frequent	11
HP:0005421	HP:0005421	Decreased serum complement C3	0	LMNB2 CL E G H	84823	6638	OMIM:608709	Lipodystrophy, partial, acquired, susceptibility to	.	11
HP:0005421	HP:0005421	Decreased serum complement C3	0	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome	HP:0040283 - Occasional	24
HP:0005421	HP:0005421	Decreased serum complement C3	0	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0005421	HP:0005421	Decreased serum complement C3	0	SPP1 CL E G H	6696	11255	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040281 - Very frequent
HP:0005421	HP:0005421	Decreased serum complement C3	0	STAT4 CL E G H	6775	11365	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040281 - Very frequent	2
HP:0005421	HP:0005421	Decreased serum complement C3	0	TLR7 CL E G H	51284	15631	OMIM:301080

Genes (14) :C3 CD46 CFH CFHR1 CFHR3 CFI DNASE1L3 IRAK1 LMNB2 PACS1 PRKCD SPP1 STAT4 TLR7

Diseases (13) :OMIM:613779 OMIM:612925 OMIM:612922 OMIM:235400 OMIM:610984 OMIM:612923 OMIM:614420 ORPHA:93552 ORPHA:79087 OMIM:608709 ORPHA:329224 OMIM:615559 OMIM:301080

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

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