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Complement component 5 deficiency(C5D)

MedGen UID:
91003
Concept ID:
C0343047
Disease or Syndrome
Synonyms: C5 deficiency; Dysfunction of the fifth component of complement (C5); Leiner disease
SNOMED CT: Complement 5 dysfunction (263661007)
 
Gene (location): C5 (9q33.2)
 
Monarch Initiative: MONDO:0012295
OMIM®: 609536

Definition

A rare genetic disorder with an autosomal recessive pattern of inheritance. It is caused by the ineffective or decreased biosynthesis of the fifth complement component, C5. C5 deficiency may also be acquired acutely post-infection. If C5 is adequately synthesized, its rapid depletion may result in a functional deficiency. Clinical signs of the inherited deficiency present within the second decade of life and are consistent with the signs of recurrent systemic infection. Deficiency of serum C5 and its major cleavage product, C5b, a component of the membrane attack complex, increases susceptibility to Neisserial infections. [from NCI]

Clinical features

From HPO
Intractable diarrhea
MedGen UID:
148164
Concept ID:
C0743178
Disease or Syndrome
Recurrent meningococcal disease
MedGen UID:
369692
Concept ID:
C1970263
Finding
Recurrent infections by Neisseria meningitidis (one of the most common causes of bacterial meningitis), which is also known as meningococcus.
Recurrent Neisserial infections
MedGen UID:
462433
Concept ID:
C3151083
Finding
Recurrent infections by bacteria of the genus Neisseria, including N. meningitidis (one of the most common causes of bacterial meningitis).
Generalized seborrheic dermatitis
MedGen UID:
870399
Concept ID:
C4024844
Disease or Syndrome
Seborrheic dermatitis that is not localized to any one particular region.
Reduced circulating CH50 activity
MedGen UID:
1380457
Concept ID:
C4476774
Finding
A diminished activity of the classical complement pathway as measured by the assay for 50% haemolytic complement (CH50) activity of serum.
Decreased circulating complement C5 concentration
MedGen UID:
1749074
Concept ID:
C5421577
Finding
Concentration of the complement component C5 in the blood circulation below the lower limit of normal.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVComplement component 5 deficiency

Professional guidelines

PubMed

MIDDLEKAMP JN, LANE CW
J Pediatr 1964 Nov;65:784-5. doi: 10.1016/s0022-3476(64)80168-2. PMID: 14221184

Recent clinical studies

Etiology

Colobran R, Franco-Jarava C, Martín-Nalda A, Baena N, Gabau E, Padilla N, de la Cruz X, Pujol-Borrell R, Comas D, Soler-Palacín P, Hernández-González M
J Clin Immunol 2016 May;36(4):388-96. Epub 2016 Mar 30 doi: 10.1007/s10875-016-0275-4. PMID: 27026170
Davido B, Dinh A, Lagrange A, Mellon G, de Truchis P, Perronne C, Cremieux AC
Clin Rheumatol 2014 Sep;33(9):1351-3. Epub 2014 Apr 29 doi: 10.1007/s10067-014-2643-x. PMID: 24777471

Diagnosis

Sanghvi SY, Schwartz RA
Dermatol Ther 2021 Jan;34(1):e14510. Epub 2020 Nov 17 doi: 10.1111/dth.14510. PMID: 33166012
Owen EP, Würzner R, Leisegang F, Rizkallah P, Whitelaw A, Simpson J, Thomas AD, Harris CL, Giles JL, Hellerud BC, Mollnes TE, Morgan BP, Potter PC, Orren A
Mol Immunol 2015 Mar;64(1):170-6. Epub 2014 Dec 19 doi: 10.1016/j.molimm.2014.11.010. PMID: 25534848
Davido B, Dinh A, Lagrange A, Mellon G, de Truchis P, Perronne C, Cremieux AC
Clin Rheumatol 2014 Sep;33(9):1351-3. Epub 2014 Apr 29 doi: 10.1007/s10067-014-2643-x. PMID: 24777471

Therapy

Sanghvi SY, Schwartz RA
Dermatol Ther 2021 Jan;34(1):e14510. Epub 2020 Nov 17 doi: 10.1111/dth.14510. PMID: 33166012
Davido B, Dinh A, Lagrange A, Mellon G, de Truchis P, Perronne C, Cremieux AC
Clin Rheumatol 2014 Sep;33(9):1351-3. Epub 2014 Apr 29 doi: 10.1007/s10067-014-2643-x. PMID: 24777471
CROTTY RQ
AMA Arch Derm 1955 May;71(5):587-9. doi: 10.1001/archderm.1955.01540290027005. PMID: 14360782
VUJASIN J, PETROVIC C
Dermatologica 1952;105(3):180-3. PMID: 13033475

Prognosis

Sanghvi SY, Schwartz RA
Dermatol Ther 2021 Jan;34(1):e14510. Epub 2020 Nov 17 doi: 10.1111/dth.14510. PMID: 33166012
Davido B, Dinh A, Lagrange A, Mellon G, de Truchis P, Perronne C, Cremieux AC
Clin Rheumatol 2014 Sep;33(9):1351-3. Epub 2014 Apr 29 doi: 10.1007/s10067-014-2643-x. PMID: 24777471

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