COMPLEMENT COMPONENT C1r/C1s DEFICIENCY
General Information (adopted from Orphanet):
| Synonyms, Signs: |
C1r/C1s DEFICIENCY |
| Number of Symptoms | 12 |
| OrphanetNr: | |
| OMIM Id: |
216950
|
| 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:
|
|
(HPO:0000123) | Nephritis | 18 / 7739 | ||||
|
|
(HPO:0002837) | Recurrent bronchitis | 21 / 7739 | ||||
|
|
(HPO:0002829) | Arthralgia | 79 / 7739 | ||||
|
|
(HPO:0001369) | Arthritis | 44 / 7739 | ||||
|
|
(HPO:0007417) | Discoid lupus erythematosus | 6 / 7739 | ||||
|
|
(HPO:0002960) | Autoimmunity | 78 / 7739 | ||||
|
|
(HPO:0004431) | Complement deficiency | 10 / 7739 | ||||
|
|
(OMIM) | Mild nephritis | 1 / 7739 | ||||
|
|
(OMIM) | Recurrent rhinobronchitis | 1 / 7739 | ||||
|
|
(OMIM) | C1r deficiency | 1 / 7739 | ||||
|
|
(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
|
|
(OMIM) | Nondeforming rheumatoid-like arthritis | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Clinical Description OMIM |
Day et al. (1972) observed 2 sibs with deficiency of C1r (613785). The brother (18 years old) had shown lupus-like features for 5 years. The sister (24 years old) had had arthralgia and recurrent rhinobronchitis from early childhood. ... |