Complement component 5 deficiency

Dysfunction of complement 5 due to homozygous or compound heterozygous mutation in the C5 gene and characterized by SEBORRHEIC DERMATITIS, intractable diarrhea, GRAM-NEGATIVE BACTERIAL INFECTIONS, and severe wasting. OMIM: 609536

Also Known As:

Dysfunction of the fifth component of complement (C5); Leiner disease

Networked: 0 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Primary Immunodeficiency Diseases: 1189
    - Hereditary Complement Deficiency Diseases: 254
      - Complement component 5 deficiency
Immune System Diseases: 4321
- Immunologic Deficiency Syndromes: 91
  - Primary Immunodeficiency Diseases: 1189
    - Hereditary Complement Deficiency Diseases: 254
      - Complement component 5 deficiency
Amino Acids, Peptides, and Proteins: 1
- Proteins: 484843
  - Blood Proteins: 12459
    - Immunoproteins: 43
      - Complement System Proteins: 33379
        Complement C5: 270
        Complement component 5 deficiency