C1Q deficiency 2
MONDO:0958187Mondo
Findings
No curated finding names C1Q deficiency 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
24 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- ArthralgiaHPOHP:0002829
- 1 of 1 reported patient
- ChilblainsHPOHP:0009710
- 1 of 1 reported patient
- Decreased circulating C1q concentrationHPOHP:0034601
- 1 of 1 reported patient
- Discoid lupus rashHPOHP:0007417
- 4 of 4 reported patients
- Elevated circulating C-reactive protein concentrationHPOHP:0011227
- 1 of 1 reported patient
- Elevated erythrocyte sedimentation rateHPOHP:0003565
- 1 of 1 reported patient
- Facial erythemaHPOHP:0001041
- 1 of 1 reported patient
- Malar rashHPOHP:0025300
- 3 of 3 reported patients
- Oral ulcerHPOHP:0000155
- 1 of 1 reported patient
- Persistent feverHPOHP:0033399
- 1 of 1 reported patient
- Reduced circulating CH50 activityHPOHP:0025434
- 1 of 1 reported patient
- Rheumatoid factor positiveHPOHP:0002923
- 2 of 4 reported patients
Show the remaining 12
- AnemiaHPOHP:0001903
- 1 of 3 reported patients
- Anti-Sm antibody positivityHPOHP:0033040
- 1 of 3 reported patients
- Antinuclear antibody positivityHPOHP:0003493
- 1 of 3 reported patients
- ArthritisHPOHP:0001369
- 1 of 3 reported patients
- AtelectasisHPOHP:0100750
- 1 of 3 reported patients
- BronchiectasisHPOHP:0002110
- 1 of 3 reported patients
Where it sits
- A kind of