COMPLEMENT COMPONENT 2 DEFICIENCY

General Information (adopted from Orphanet):

Synonyms, Signs: C2 DEFICIENCY
C2D
Number of Symptoms 8
OrphanetNr:
OMIM Id: 217000
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000979) Purpura 27 / 7739
2
(HPO:0002960) Autoimmunity 78 / 7739
3
(HPO:0002725) Systemic lupus erythematosus 14 / 7739
4
(MedDRA:10019617) Henoch-Schonlein purpura 1 / 7739
5
(OMIM) C2 deficiency 1 / 7739
6
(MedDRA:10040767) Sjogren's syndrome 1 / 7739
7
(MedDRA:10036102) Polymyositis 1 / 7739
8
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Klemperer et al. (1966, 1967) found C2 deficiency in multiple members of a kindred. No gene product was detected in those with the deficiency (homozygotes). In heterozygotes a partial deficiency of C2 was found. Restudy of the family ...
Molecular genetics OMIM Friend et al. (1975) found that 3 unrelated persons with deficiency of C2 in association with lupus erythematosus, polyarteritis and membranoproliferative glomerulonephritis were homozygous for the mixed lymphocyte reaction determinant, short 7a (7a*). Since two were homozygous HLA-A10, ...
Population genetics OMIM Cole et al. (1985) stated that C2 deficiency is the most frequent complement deficiency state among western European populations, occurring in about 1 in 10,000 white persons.