Complement component 3 deficiency
- Synonyms
- C3 Deficiency, Autosomal Recessive; Complement component 3 deficiency, autosomal recessive
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- References
- Chapter Notes
- Authors:
- Bertha MartÃn
- Richard JH Smith
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (25 available)
Clinical features
Help- Abnormality of metabolism/homeostasis
- Recurrent fever
Recurrent fever
- MedGen UID: 811468
- Concept ID: C3714772
- Finding: Sign or Symptom
Abnormality of metabolism/homeostasis
- Recurrent fever
- Abnormality of the genitourinary system
- Nephrotic syndrome
Nephrotic syndrome
- MedGen UID: 10308
- Concept ID: C0027726
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Renal insufficiency
Renal insufficiency
- MedGen UID: 332529
- Concept ID: C1565489
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Nephrotic syndrome
- Abnormality of the immune system
- Decreased circulating complement C3 concentration
Decreased circulating complement C3 concentration
- MedGen UID: 332469
- Concept ID: C1837512
- Finding: Finding
Abnormality of the immune system
- Mesangiocapillary glomerulonephritis
Mesangiocapillary glomerulonephritis
- MedGen UID: 9033
- Concept ID: C0017662
- Finding: Disease or Syndrome
Abnormality of the immune system
- Recurrent bacterial infections
Recurrent bacterial infections
- MedGen UID: 334943
- Concept ID: C1844383
- Finding: Finding
Abnormality of the immune system
- Recurrent tonsillitis
Recurrent tonsillitis
- MedGen UID: 1781351
- Concept ID: C0740402
- Finding: Disease or Syndrome
Abnormality of the immune system
- Systemic lupus erythematosus
Systemic lupus erythematosus
- MedGen UID: 6146
- Concept ID: C0024141
- Finding: Disease or Syndrome
Abnormality of the immune system
- Decreased circulating complement C3 concentration
- Abnormality of the respiratory system
- Recurrent pneumonia
Recurrent pneumonia
- MedGen UID: 195802
- Concept ID: C0694550
- Finding: Disease or Syndrome
Abnormality of the respiratory system
- Recurrent pneumonia
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