COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 2
OrphanetNr:
OMIM Id: 120790
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0002725) Systemic lupus erythematosus 14 / 7739
2
(OMIM) Partial C4 deficiency 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Muir et al. (1984) described a partial deficiency of C4 in a kindred ascertained through a 26-year-old woman with systemic lupus erythematosus. Six healthy members of the family also had partial deficiency of C4. The inheritance pattern was ...
Molecular genetics OMIM In affected members of the kindred originally reported by Muir et al. (1984), Zahedi et al. (1995) identified heterozygosity for an ala443-to-val mutation in the C1 inhibitor gene (606860.0012).