U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Decreased circulating complement C4a concentration(C4AD)

MedGen UID:
482272
Concept ID:
C3280642
Finding
Synonyms: C4a deficiency; Complement component 4a deficiency
 
Gene (location): C4A (6p21.33)
 
HPO: HP:0045043
Monarch Initiative: MONDO:0013721
OMIM®: 614380

Definition

Concentration of the complement component C4a in the blood circulation below the lower limit of normal. [from HPO]

Clinical features

From HPO
Vasculitis
MedGen UID:
12054
Concept ID:
C0042384
Disease or Syndrome
Inflammation of blood vessel.
Glomerulonephritis
MedGen UID:
6616
Concept ID:
C0017658
Disease or Syndrome
Inflammation of the renal glomeruli.
Systemic lupus erythematosus
MedGen UID:
6146
Concept ID:
C0024141
Disease or Syndrome
Systemic lupus erythematosus (SLE) is a complex autoimmune disease characterized by production of autoantibodies against nuclear, cytoplasmic, and cell surface molecules that transcend organ-specific boundaries. Tissue deposition of antibodies or immune complexes induces inflammation and subsequent injury of multiple organs and finally results in clinical manifestations of SLE, including glomerulonephritis, dermatitis, thrombosis, vasculitis, seizures, and arthritis. Evidence strongly suggests the involvement of genetic components in SLE susceptibility (summary by Oishi et al., 2008). Genetic Heterogeneity of Systemic Lupus Erythematosus An autosomal recessive form of systemic lupus erythematosus (SLEB16; 614420) is caused by mutation in the DNASE1L3 gene (602244) on chromosome 3p14.3. An X-linked dominant form of SLE (SLEB17; 301080) is caused by heterozygous mutation in the TLR7 gene (300365) on chromosome Xp22. See MAPPING and MOLECULAR GENETICS sections for a discussion of genetic heterogeneity of susceptibility to SLE.
Decreased circulating complement C4 concentration
MedGen UID:
893114
Concept ID:
C4073169
Finding
Concentration of the complement component C4 in the blood circulation below the lower limit of normal.
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.
Purpura
MedGen UID:
19584
Concept ID:
C0034150
Disease or Syndrome
Purpura (from Latin
Cutaneous photosensitivity
MedGen UID:
87601
Concept ID:
C0349506
Pathologic Function
An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDecreased circulating complement C4a concentration

Recent clinical studies

Etiology

Watanabe H, Hayashi J, Ohzeki H, Moro H, Sugawara M, Eguchi S
Ann Thorac Surg 1999 May;67(5):1315-9. doi: 10.1016/s0003-4975(99)00213-1. PMID: 10355404
Donnelly TJ, Meade P, Jagels M, Cryer HG, Law MM, Hugli TE, Shoemaker WC, Abraham E
Crit Care Med 1994 May;22(5):768-76. doi: 10.1097/00003246-199405000-00010. PMID: 8181284

Diagnosis

Donnelly TJ, Meade P, Jagels M, Cryer HG, Law MM, Hugli TE, Shoemaker WC, Abraham E
Crit Care Med 1994 May;22(5):768-76. doi: 10.1097/00003246-199405000-00010. PMID: 8181284

Therapy

Prellner K, Braconier JH, Sjöholm AG
Acta Pathol Microbiol Immunol Scand C 1985 Dec;93(6):257-63. doi: 10.1111/j.1699-0463.1985.tb02954.x. PMID: 2424262

Prognosis

Donnelly TJ, Meade P, Jagels M, Cryer HG, Law MM, Hugli TE, Shoemaker WC, Abraham E
Crit Care Med 1994 May;22(5):768-76. doi: 10.1097/00003246-199405000-00010. PMID: 8181284

Clinical prediction guides

Donnelly TJ, Meade P, Jagels M, Cryer HG, Law MM, Hugli TE, Shoemaker WC, Abraham E
Crit Care Med 1994 May;22(5):768-76. doi: 10.1097/00003246-199405000-00010. PMID: 8181284
Prellner K, Braconier JH, Sjöholm AG
Acta Pathol Microbiol Immunol Scand C 1985 Dec;93(6):257-63. doi: 10.1111/j.1699-0463.1985.tb02954.x. PMID: 2424262

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...