MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: immune complex mediated vasculitis (MONDO:0015491)
Parent Node: secondary glomerular disease (MONDO:0019724)
..Starting node ..hypocomplementemic urticarial vasculitis ()
Child Nodes:
Sister Nodes:
..AA amyloidosis ()
..AApoAIV amyloidosis ()
..adult-onset Still disease ()
..AH amyloidosis ()
..AL amyloidosis ()
..anti-glomerular basement membrane disease ()
..autoimmune interstitial lung disease-arthritis syndrome ()
..Behcet disease ()
..collagen type III glomerulopathy ()
..Cryoglobulinemic vasculitis ()
..eosinophilic granulomatosis with polyangiitis ()
..familial Mediterranean fever ()
..familial visceral amyloidosis ()
..granulomatosis with polyangiitis ()
..hypocomplementemic urticarial vasculitis ()
..IgG4-related kidney disease ()
..immunoglobulin a vasculitis ()
..immunotactoid or fibrillary glomerulopathy ()
..microscopic polyangiitis ()
..mixed connective tissue disease ()
..Muckle-Wells syndrome ()
..non-amyloid monoclonal immunoglobulin deposition disease ()
..pauci-immune glomerulonephritis ()
..polyarteritis nodosa ()
..polymyositis ()
..relapsing polychondritis ()
..Reynolds syndrome ()
..systemic lupus erythematosus (disease) ()
..systemic sclerosis ()
..Takayasu arteritis ()
..temporal arteritis ()
..thromboangiitis obliterans ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	18227
Name:	hypocomplementemic urticarial vasculitis
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.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	anti-C1q vasculitis; Mac Duffie hypocomplementemic urticarial vasculitis; Mac Duffie syndrome; McDuffie hypocomplementemic urticarial vasculitis; McDuffie syndrome
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal