Details of Disease

General Information of Disease (ID: DISM1RRV)

Disease Name Hypocomplementemic urticarial vasculitis
Synonyms McDuffie hypocomplementemic urticarial vasculitis; Mac Duffie hypocomplementemic urticarial vasculitis; Mac Duffie syndrome; anti-C1q vasculitis; McDuffie syndrome
Definition
Hypocomplementemic urticarial vasculitis (HUV) is an immune complex-mediated small vessel vasculitis characterized by urticaria and hypocomplementemia (low C1q with or without low C3 and C4), and usually associated with circulating anti-C1q autoantibodies. Arthritis, pulmonary disease, ocular inflammation, and glomerulonephritis are common systemic manifestations.
Disease Hierarchy
DISWMOW2: Immune complex mediated vasculitis
DISM1RRV: Hypocomplementemic urticarial vasculitis
Disease Identifiers
MONDO ID
MONDO_0018227
UMLS CUI
C0343206
MedGen ID
83360
Orphanet ID
36412
SNOMED CT ID
239945009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
DNASE1L3 OTEUIMC2 Supportive Autosomal recessive [1]
------------------------------------------------------------------------------------

References

1 DNASE1L3 mutations in hypocomplementemic urticarial vasculitis syndrome. Arthritis Rheum. 2013 Aug;65(8):2183-9. doi: 10.1002/art.38010.