Complement component 3 deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: C3 DEFICIENCY, AUTOSOMAL RECESSIVE
C3D
C3 deficiency
Number of Symptoms 9
OrphanetNr: 280133
OMIM Id: 613779
ICD-10: D84.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Immunodeficiency due to a complement cascade protein anomaly
 -Rare genetic disease
 -Rare immune disease

Symptom Information: Sort by abundance 

1
(HPO:0000083) Renal insufficiency 232 / 7739
2
(HPO:0000793) Membranoproliferative glomerulonephritis 26 % [HPO:skoehler] 8 / 7739
3
(HPO:0000100) Nephrotic syndrome 83 / 7739
4
(HPO:0005421) Decreased serum complement C3 9 / 7739
5
(HPO:0002718) Recurrent bacterial infections 75 / 7739
6
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
7
(OMIM) Decreased C3 antigen 1 / 7739
8
(OMIM) Autoimmune disease resembling systemic lupus erythematosis (SLE, 152700) (in about 26%) 1 / 7739
9
(OMIM) Decreased C3 activity 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The main clinical manifestation of primary C3 deficiency is childhood-onset of recurrent bacterial infections, mainly caused by gram-negative bacteria, such as Neisseria meningitidis, Enterobacter aerogenes, Haemophilus influenzae, and Escherichia coli; infections with gram-positive bacteria also occur. Infections in ...
Clinical Description OMIM Alper et al. (1972) described a patient with a striking susceptibility to pyogenic infection who was apparently homozygous for C3 deficiency. Her C3 levels were one-thousandth or less of normal. Many relatives, including both parents, had approximately half-normal ...
Molecular genetics OMIM By segregation of C3S and C3F allotypes within a family in which a child had C3 deficiency, Botto et al. (1990) confirmed the presence of a null C3 allele (120700.0003), for which the patient was homozygous. Both parents ...