COMPLEMENT COMPONENT 4A DEFICIENCY

General Information (adopted from Orphanet):

Synonyms, Signs: C4A DEFICIENCY
C4AD
Number of Symptoms 9
OrphanetNr:
OMIM Id: 614380
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:0000099) Glomerulonephritis 13 / 7739
2
(HPO:0200144) Anaphylactoid purpura 1 / 7739
3
(HPO:0000992) Cutaneous photosensitivity 75 / 7739
4
(HPO:0002633) Vasculitis 12 / 7739
5
(HPO:0004431) Complement deficiency 10 / 7739
6
(HPO:0002725) Systemic lupus erythematosus 14 / 7739
7
(MedDRA:10012503) Dermatomyositis 2 / 7739
8
(OMIM) Absent CH50 activity in complete C4 deficiency 1 / 7739
9
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Partial deficiency of C4 was found in 3 persons during a screening of 42,000 healthy Japanese (Torisu et al., 1970).

Of 26 patients with autoimmune chronic active hepatitis beginning in childhood, Vergani et al. (1985) found ...

Molecular genetics OMIM Awdeh et al. (1981) analyzed C4 types in relatives of a C4-deficient proband and provided evidence that the deficiency results from homozygosity for a rare, double-null haplotype. The family contained persons with 1, 2, 3, or 4 expressed ...
Population genetics OMIM Ranford et al. (1987) found an extraordinarily high frequency of C4 deficiency in the Australian aboriginal population of Darwin: 29% as compared with 12% in aborigines in Alice Springs and 17% in Canberra blood donors. Partial C4B deficiency ...