MCID: HYP193
MIFTS: 37

Hypocomplementemic Urticarial Vasculitis

Categories: Rare diseases, Cardiovascular diseases, Nephrological diseases, Bone diseases

Aliases & Classifications for Hypocomplementemic Urticarial Vasculitis

MalaCards integrated aliases for Hypocomplementemic Urticarial Vasculitis:

Name: Hypocomplementemic Urticarial Vasculitis 53 59 73
Mac Duffie Hypocomplementemic Urticarial Vasculitis 53 59
Mcduffie Hypocomplementemic Urticarial Vasculitis 53 59
Anti-C1q Vasculitis 53 59
Mac Duffie Syndrome 53 59
Mcduffie Syndrome 53 59

Characteristics:

Orphanet epidemiological data:

59
hypocomplementemic urticarial vasculitis
Inheritance: Multigenic/multifactorial,Not applicable; Age of onset: All ages; Age of death: any age;

Classifications:



Summaries for Hypocomplementemic Urticarial Vasculitis

NIH Rare Diseases : 53 Hypocomplementemic urticarial vasculitis (HUV) is a rare form of vasculitis characterized by inflammation of the small blood vessels and low levels of complement proteins in the blood. HUV causes recurrent episodes of hives (urticaria) and painful skin lesions that itch or burn. Individuals with HUV may also have systemic, multiorgan involvement, causing arthritic joint pain; pulmonary (lung) disease; ocular (eye) inflammation; kidney inflammation; or various other symptoms. Some scientists refer to the condition as HUV syndrome (HUVS) when it is more severe and there is significant systemic involvement. Other scientists call the condition HUVS in the absence of systemic disease. In some cases, the terms are used as synonyms. There appears to be controversy regarding the nomenclature and classification of HUV and HUVS, and whether they are distinct conditions or represent a continuum of the same disease. Both genetic and environmental factors are thought to play a role in causing HUV. It generally occurs sporadically, but familial cases have been reported. It is thought to develop due to an abnormal immune system response involving specific proteins that work together to fight organisms that cause infections. In some cases HUV may be associated with an underlying infection or systemic diseases such as systemic lupus, Sjögren's syndrome, monoclonal gammopathy, or blood disorders.   There is no cure for HUV. Treatment varies depending on each person's signs and symptoms. Some cases of HUV respond to therapies commonly used for the treatment of lupus, including low-dose prednisone, hydroxychloroquine, and dapsone. 

MalaCards based summary : Hypocomplementemic Urticarial Vasculitis, also known as mac duffie hypocomplementemic urticarial vasculitis, is related to vasculitis and glomerulonephritis, and has symptoms including urticarial vasculitis An important gene associated with Hypocomplementemic Urticarial Vasculitis is DNASE1L3 (Deoxyribonuclease 1 Like 3). The drugs Antibodies and Immunoglobulins have been mentioned in the context of this disorder. Affiliated tissues include skin, lung and eye, and related phenotypes are renal insufficiency and proteinuria

Related Diseases for Hypocomplementemic Urticarial Vasculitis

Graphical network of the top 20 diseases related to Hypocomplementemic Urticarial Vasculitis:



Diseases related to Hypocomplementemic Urticarial Vasculitis

Symptoms & Phenotypes for Hypocomplementemic Urticarial Vasculitis

Human phenotypes related to Hypocomplementemic Urticarial Vasculitis:

59 32 (show all 48)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 renal insufficiency 59 32 frequent (33%) Frequent (79-30%) HP:0000083
2 proteinuria 59 32 frequent (33%) Frequent (79-30%) HP:0000093
3 sensorineural hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000407
4 conjunctivitis 59 32 frequent (33%) Frequent (79-30%) HP:0000509
5 uveitis 59 32 frequent (33%) Frequent (79-30%) HP:0000554
6 sensory neuropathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000763
7 hematuria 59 32 frequent (33%) Frequent (79-30%) HP:0000790
8 skin rash 59 32 hallmark (90%) Very frequent (99-80%) HP:0000988
9 pruritus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000989
10 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
11 ataxia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001251
12 meningitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001287
13 reduced tendon reflexes 59 32 occasional (7.5%) Occasional (29-5%) HP:0001315
14 arthritis 59 32 frequent (33%) Frequent (79-30%) HP:0001369
15 joint dislocation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001373
16 ascites 59 32 occasional (7.5%) Occasional (29-5%) HP:0001541
17 pericardial effusion 59 32 occasional (7.5%) Occasional (29-5%) HP:0001698
18 splenomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001744
19 diarrhea 59 32 occasional (7.5%) Occasional (29-5%) HP:0002014
20 nausea and vomiting 59 32 frequent (33%) Frequent (79-30%) HP:0002017
21 abdominal pain 59 32 frequent (33%) Frequent (79-30%) HP:0002027
22 restrictive ventilatory defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0002091
23 dyspnea 59 32 frequent (33%) Frequent (79-30%) HP:0002094
24 emphysema 59 32 occasional (7.5%) Occasional (29-5%) HP:0002097
25 hemoptysis 59 32 frequent (33%) Frequent (79-30%) HP:0002105
26 pleural effusion 59 32 occasional (7.5%) Occasional (29-5%) HP:0002202
27 hepatomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002240
28 lymphoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002665
29 lymphadenopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0002716
30 recurrent bacterial infections 59 32 occasional (7.5%) Occasional (29-5%) HP:0002718
31 autoimmunity 59 32 frequent (33%) Frequent (79-30%) HP:0002960
32 myalgia 59 32 occasional (7.5%) Occasional (29-5%) HP:0003326
33 hemiplegia/hemiparesis 59 32 occasional (7.5%) Occasional (29-5%) HP:0004374
34 complement deficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0004431
35 obstructive lung disease 59 32 occasional (7.5%) Occasional (29-5%) HP:0006536
36 cranial nerve paralysis 59 32 occasional (7.5%) Occasional (29-5%) HP:0006824
37 irregular hyperpigmentation 59 32 frequent (33%) Frequent (79-30%) HP:0007400
38 small vessel vasculitis 59 32 hallmark (90%) Very frequent (99-80%) HP:0011944
39 cough 59 32 frequent (33%) Frequent (79-30%) HP:0012735
40 cerebral palsy 59 32 occasional (7.5%) Occasional (29-5%) HP:0100021
41 immunologic hypersensitivity 59 32 occasional (7.5%) Occasional (29-5%) HP:0100326
42 episcleritis 59 32 frequent (33%) Frequent (79-30%) HP:0100534
43 angioedema 59 32 frequent (33%) Frequent (79-30%) HP:0100665
44 glomerulopathy 59 32 frequent (33%) Frequent (79-30%) HP:0100820
45 abnormality of the heart valves 59 Occasional (29-5%)
46 peripheral neuropathy 59 Occasional (29-5%)
47 inflammatory abnormality of the eye 59 Frequent (79-30%)
48 abnormal heart valve morphology 32 occasional (7.5%) HP:0001654

UMLS symptoms related to Hypocomplementemic Urticarial Vasculitis:


urticarial vasculitis

Drugs & Therapeutics for Hypocomplementemic Urticarial Vasculitis

Drugs for Hypocomplementemic Urticarial Vasculitis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Antibodies Phase 2
2 Immunoglobulins Phase 2
3 Antibodies, Monoclonal Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Ilaris® in Urticarial Vasculitis - Investigation of Treatment Responses Completed NCT01170936 Phase 2 canakinumab
2 Journey of Patients With Vasculitis From First Symptom to Diagnosis Completed NCT03410290
3 Impact of Vasculitis on Employment and Income Completed NCT02476292
4 Clinical Transcriptomics in Systemic Vasculitis (CUTIS) Recruiting NCT03004326
5 Vasculitis Pregnancy Registry Recruiting NCT02593565
6 Observational Study of the Genetic Architecture of Neutrophil-Mediated Inflammatory Skin Diseases Recruiting NCT01952275

Search NIH Clinical Center for Hypocomplementemic Urticarial Vasculitis

Genetic Tests for Hypocomplementemic Urticarial Vasculitis

Anatomical Context for Hypocomplementemic Urticarial Vasculitis

MalaCards organs/tissues related to Hypocomplementemic Urticarial Vasculitis:

41
Skin, Lung, Eye, Kidney, Heart, Neutrophil, Bone

Publications for Hypocomplementemic Urticarial Vasculitis

Articles related to Hypocomplementemic Urticarial Vasculitis:

(show top 50) (show all 52)
# Title Authors Year
1
Acute respiratory distress syndrome in a man with Epstein-Barr virus infection-induced hypocomplementemic urticarial vasculitis. ( 29458992 )
2018
2
Hypocomplementemic urticarial vasculitis occurring in a patient with relapsing polychondritis. ( 29779215 )
2018
3
Hypocomplementemic Urticarial Vasculitis Syndrome With Crescentic Glomerulonephritis. ( 29406049 )
2018
4
Hypocomplementemic Urticarial Vasculitis Syndrome with Membranous Nephropathy: Case Report. ( 29115092 )
2017
5
A Case of Crescentic Glomerulonephritis Complicated with Hypocomplementemic Urticarial Vasculitis Syndrome and ANCA-Associated Vasculitis. ( 29594143 )
2017
6
Omalizumab does not improve skin lesions in a patient with hypocomplementemic urticarial vasculitis syndrome. ( 28273376 )
2017
7
A Case of Hypocomplementemic Urticarial Vasculitis Syndrome Successfully Treated With Omalizumab. ( 29199964 )
2017
8
Hypocomplementemic urticarial vasculitis arising in a patient with immunoglobulin G4-related disease. ( 26276260 )
2016
9
Systemic Manifestations of Hypocomplementemic Urticarial Vasculitis: Comment on the Article by Jachiet et al. ( 25775970 )
2015
10
Hypocomplementemic Urticarial Vasculitis Syndrome Possibly Secondary to Etanercept Use. ( 26203836 )
2015
11
Renal Pathology: SY23-2 HYPOCOMPLEMENTEMIC URTICARIAL VASCULITIS SYNDROME - A CASE REPORT. ( 25188172 )
2014
12
The clinical spectrum and therapeutic management of hypocomplementemic urticarial vasculitis: data from a French nationwide study of 57 patients. ( 25385679 )
2014
13
Membranoproliferative glomerulonephritis presenting as arthropathy and cardiac valvulopathy in hypocomplementemic urticarial vasculitis: a case report. ( 25339233 )
2014
14
Cutaneous lesions and finger clubbing uncovering hypocomplementemic urticarial vasculitis and hepatitis C with mixed cryoglobulinemia. ( 24474109 )
2013
15
Hypocomplementemic Urticarial Vasculitis Syndrome in an 8-year-old Boy: A Case Report and Review of Literature. ( 23904922 )
2013
16
Hypocomplementemic urticarial vasculitis syndrome in three siblings. ( 21113808 )
2013
17
DNASE1L3 mutations in hypocomplementemic urticarial vasculitis syndrome. ( 23666765 )
2013
18
Hypocomplementemic urticarial vasculitis (HUVS) with precocious emphysema responsive to azathioprine. ( 23615811 )
2013
19
Angioedema in a 47-year-old woman with hypocomplementemic urticarial vasculitis syndrome. ( 22331803 )
2012
20
Hypocomplementemic urticarial vasculitis syndrome: a rare cause of basilar panacinar emphysema. ( 21952607 )
2012
21
Hypocomplementemic urticarial vasculitis syndrome: a case report and literature review. ( 22328958 )
2012
22
Hypocomplementemic urticarial vasculitis syndrome is associated with high levels of serum IgG4: a clinical manifestation that mimics IgG4-related disease. ( 21576837 )
2011
23
Disseminated Burkholderia gladioli infection in a lung transplant recipient with underlying hypocomplementemic urticarial vasculitis. ( 21504528 )
2011
24
Re: Hypocomplementemic urticarial vasculitis syndrome: an interdisciplinary challenge. Recurrent episodes of sudden acute sensorineural hearing loss. ( 20532130 )
2010
25
Hypocomplementemic urticarial vasculitis in mixed connective tissue disease. ( 21199634 )
2010
26
Re: Hypocomplementemic urticarial vasculitis syndrome: an interdisciplinary challenge. Question mark over hypocomplementemia. ( 20532131 )
2010
27
Hypocomplementemic urticarial vasculitis syndrome: an interdisciplinary challenge. ( 20019864 )
2009
28
Hypocomplementemic urticarial vasculitis in systemic lupus erythematosus. ( 19270838 )
2009
29
Hypocomplementemic urticarial vasculitis syndrome. ( 19922730 )
2009
30
Hypocomplementemic urticarial vasculitis with Jaccoud's arthropathy and valvular heart disease: case report and review of the literature. ( 18755866 )
2008
31
Crescentic glomerulonephritis associated with hypocomplementemic urticarial vasculitis syndrome. ( 18824286 )
2008
32
EBNA1 expression in a lung transplant recipient with hypocomplementemic urticarial vasculitis syndrome. ( 17516536 )
2007
33
Crescentic membranoproliferative glomerulonephritis and hypocomplementemic urticarial vasculitis. ( 16013022 )
2005
34
Urticarial vasculitis and hypocomplementemic urticarial vasculitis syndrome. ( 15120147 )
2004
35
Basilar hyperlucency in a patient with emphysema due to hypocomplementemic urticarial vasculitis syndrome. ( 12841861 )
2003
36
Valvular heart disease in patients with hypocomplementemic urticarial vasculitis syndrome associated with Jaccoud's arthropathy. ( 12140126 )
2002
37
Hypocomplementemic urticarial vasculitis, jaccoud's arthropathy, valvular heart disease, and reversible tracheal stenosis: a surfeit of syndromes. ( 11246684 )
2001
38
Renal transplantation in a patient with hypocomplementemic urticarial vasculitis syndrome. ( 11136180 )
2001
39
Membranoproliferative glomerulonephritis associated with hypocomplementemic urticarial vasculitis after complete remission of membranous nephropathy. ( 11399923 )
2001
40
Crescentic glomerulonephritis complicating the course of a hypocomplementemic urticarial vasculitis. ( 11105804 )
2000
41
Hypocomplementemic urticarial vasculitis syndrome. Clinical and serologic findings in 18 patients. ( 7837968 )
1995
42
Hypocomplementemic urticarial vasculitis syndrome in identical twins. ( 8024620 )
1994
43
Hypocomplementemic urticarial vasculitis syndrome with severe systemic manifestations. ( 8176563 )
1994
44
Hypocomplementemic urticarial vasculitis syndrome, Jaccoud's syndrome, valvulopathy: a new syndromic combination. ( 8371228 )
1993
45
Comparison of autoantibodies to the collagen-like region of C1q in hypocomplementemic urticarial vasculitis syndrome and systemic lupus erythematosus. ( 1538123 )
1992
46
IgG autoantibody to the collagen-like region of Clq in hypocomplementemic urticarial vasculitis syndrome, systemic lupus erythematosus, and 6 other musculoskeletal or rheumatic diseases. ( 1404125 )
1992
47
Recurrent pericarditis and cardiac tamponade in a patient with hypocomplementemic urticarial vasculitis syndrome. ( 1865426 )
1991
48
Serum IgG antibodies to C1q in hypocomplementemic urticarial vasculitis syndrome. ( 2528353 )
1989
49
Jaccoud's arthritis and panvasculitis in the hypocomplementemic urticarial vasculitis syndrome. ( 3172101 )
1988
50
Hypocomplementemic urticarial vasculitis syndrome responsive to dapsone. ( 3771868 )
1986

Variations for Hypocomplementemic Urticarial Vasculitis

Expression for Hypocomplementemic Urticarial Vasculitis

Search GEO for disease gene expression data for Hypocomplementemic Urticarial Vasculitis.

Pathways for Hypocomplementemic Urticarial Vasculitis

GO Terms for Hypocomplementemic Urticarial Vasculitis

Sources for Hypocomplementemic Urticarial Vasculitis

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