C1Q deficiency 2
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (1 available)
Molecular Genetics Tests
Clinical features
Help- Abnormality of blood and blood-forming tissues
- Anemia
Anemia
- MedGen UID: 1526
- Concept ID: C0002871
- Finding: Disease or Syndrome
Abnormality of blood and blood-forming tissues
- Anemia
- Abnormality of head or neck
- Oral ulcer
Oral ulcer
- MedGen UID: 57699
- Concept ID: C0149745
- Finding: Disease or Syndrome
Abnormality of head or neck
- Oral ulcer
- Abnormality of metabolism/homeostasis
- Elevated circulating C-reactive protein concentration
Elevated circulating C-reactive protein concentration
- MedGen UID: 892906
- Concept ID: C4023452
- Finding: Finding
Abnormality of metabolism/homeostasis
- Elevated erythrocyte sedimentation rate
Elevated erythrocyte sedimentation rate
- MedGen UID: 57727
- Concept ID: C0151632
- Finding: Finding
Abnormality of metabolism/homeostasis
- Persistent fever
Persistent fever
- MedGen UID: 1720688
- Concept ID: C0476474
- Finding: Pathologic Function
Abnormality of metabolism/homeostasis
- Elevated circulating C-reactive protein concentration
- Abnormality of the cardiovascular system
- Vasculitis in the skin
Vasculitis in the skin
- MedGen UID: 488809
- Concept ID: C0262988
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Vasculitis in the skin
- Abnormality of the immune system
- Anti-Sm antibody positivity
Anti-Sm antibody positivity
- MedGen UID: 1755112
- Concept ID: C5421567
- Finding: Finding
Abnormality of the immune system
- Antinuclear antibody positivity
Antinuclear antibody positivity
- MedGen UID: 101792
- Concept ID: C0151480
- Finding: Laboratory or Test Result
Abnormality of the immune system
- Chilblains
Chilblains
- MedGen UID: 886
- Concept ID: C0008058
- Finding: Injury or Poisoning
Abnormality of the immune system
- Decreased circulating C1q concentration
Decreased circulating C1q concentration
- MedGen UID: 1841603
- Concept ID: C5826513
- Finding: Finding
Abnormality of the immune system
- Discoid lupus erythematosus
Discoid lupus erythematosus
- MedGen UID: 1811126
- Concept ID: C5574816
- Finding: Disease or Syndrome
Abnormality of the immune system
- Extractable nuclear antigen positivity
Extractable nuclear antigen positivity
- MedGen UID: 1785652
- Concept ID: C5539626
- Finding: Laboratory or Test Result
Abnormality of the immune system
- Malar rash
Malar rash
- MedGen UID: 75808
- Concept ID: C0277942
- Finding: Finding
Abnormality of the immune system
- Pneumocystis carinii pneumonia
Pneumocystis carinii pneumonia
- MedGen UID: 994080
- Concept ID: CN315554
- Finding: Finding
Abnormality of the immune system
- Recurrent otitis media
Recurrent otitis media
- MedGen UID: 155436
- Concept ID: C0747085
- Finding: Disease or Syndrome
Abnormality of the immune system
- Reduced circulating CH50 activity
Reduced circulating CH50 activity
- MedGen UID: 1380457
- Concept ID: C4476774
- Finding: Finding
Abnormality of the immune system
- Rheumatoid factor positive
Rheumatoid factor positive
- MedGen UID: 56226
- Concept ID: C0151379
- Finding: Laboratory or Test Result
Abnormality of the immune system
- Sepsis
Sepsis
- MedGen UID: 48626
- Concept ID: C0036690
- Finding: Disease or Syndrome
Abnormality of the immune system
- Anti-Sm antibody positivity
- Abnormality of the integument
- Facial erythema
Facial erythema
- MedGen UID: 65986
- Concept ID: C0239488
- Finding: Finding
Abnormality of the integument
- Facial erythema
- Abnormality of the musculoskeletal system
- Arthritis
Arthritis
- MedGen UID: 2043
- Concept ID: C0003864
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Arthritis
- Abnormality of the respiratory system
- Atelectasis
Atelectasis
- MedGen UID: 13946
- Concept ID: C0004144
- Finding: Pathologic Function
Abnormality of the respiratory system
- Bronchiectasis
Bronchiectasis
- MedGen UID: 14234
- Concept ID: C0006267
- Finding: Disease or Syndrome
Abnormality of the respiratory system
- Recurrent lower respiratory tract infections
Recurrent lower respiratory tract infections
- MedGen UID: 756211
- Concept ID: C3163798
- Finding: Disease or Syndrome
Abnormality of the respiratory system
- Atelectasis
- Constitutional symptom
- Arthralgia
Arthralgia
- MedGen UID: 13917
- Concept ID: C0003862
- Finding: Sign or Symptom
Constitutional symptom
- Arthralgia
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