COMPLEMENT COMPONENT C1s DEFICIENCY

General Information (adopted from Orphanet):

Synonyms, Signs: C1SD
C1s DEFICIENCY
Number of Symptoms 4
OrphanetNr:
OMIM Id: 613783
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000872) Hashimoto thyroiditis 5 / 7739
2
(HPO:0012115) Hepatitis 24 / 7739
3
(HPO:0002725) Systemic lupus erythematosus 14 / 7739
4
(HPO:0005339) Abnormality of complement system 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Inoue et al. (1998) reported a patient with a systemic lupus erythematosus-like syndrome and chronic glomerulonephritis in whom no C1s protein was detectable by immunoblot. By Northern blot and RT-PCR analysis, C1s mRNA was of appropriate size, but ...
Molecular genetics OMIM Inoue et al. (1998) reported a patient with selective C1s deficiency resulting from a homozygous mutation in the C1S gene (120580.0001).

In a 27-month-old girl with multiple autoimmune diseases, Dragon-Durey et al. (2001) detected selective C1S ...