C1q DEFICIENCY

General Information (adopted from Orphanet):

Synonyms, Signs: C1QD
Number of Symptoms 10
OrphanetNr:
OMIM Id: 613652
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:0000793) Membranoproliferative glomerulonephritis Occasional [HPO:probinson] 8 / 7739
2
(HPO:0002725) Systemic lupus erythematosus Occasional [HPO:probinson] 14 / 7739
3
(HPO:0002960) Autoimmunity 78 / 7739
4
(HPO:0002719) Recurrent infections 107 / 7739
5
(HPO:0005356) Decreased serum complement factor I 3 / 7739
6
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
7
(OMIM) Systemic lupus erythematosis (in some patients) 1 / 7739
8
(OMIM) Mesangial proliferative glomerulonephritis (in some patients) 1 / 7739
9
(OMIM) C1q molecule present, but dysfunctional 1 / 7739
10
(OMIM) C1q deficiency 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) C1q deficiency is a rare autosomal recessive disorder associated with recurrent skin lesions, chronic infections, systemic lupus erythematosis (SLE; see 152700) or SLE-like diseases. It has also been associated with mesangial proliferative glomerulonephritis. C1q deficiency presents in 2 ...
Clinical Description OMIM Thompson et al. (1980) reported C1q deficiency in a 4-year-old son of first-cousin Pakistani parents, who presented with a lupus-like illness and later developed glomerulonephritis. A younger sister, as yet clinically unaffected, had the same complement profile and ...
Molecular genetics OMIM The first molecular lesion in C1q deficiency was reported by McAdam et al. (1988). A homozygous G-to-A transition at nucleotide 150 in the C1QB gene (120570.0001) resulted in a premature stop codon.

In 2 sibs with ...