MCID: HYP193
MIFTS: 35

Hypocomplementemic Urticarial Vasculitis

Categories: Bone diseases, Cardiovascular diseases, Nephrological diseases, Rare 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 systemic lupus erythematosus, 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 lung, skin and eye, and related phenotypes are joint dislocation and seizures

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

Publications for Hypocomplementemic Urticarial Vasculitis

Articles related to Hypocomplementemic Urticarial Vasculitis:

(show top 50) (show all 71)
# 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
Idiopathic hypocomplementemic urticarial vasculitis-linked neuropathy. ( 19375087 )
2009
31
Intravenous immunoglobulin therapy for hypocomplementemic urticarial vasculitis associated with systemic lupus erythematosus in a child. ( 19689522 )
2009
32
Hypocomplementemic urticarial vasculitis with Jaccoud's arthropathy and valvular heart disease: case report and review of the literature. ( 18755866 )
2008
33
Crescentic glomerulonephritis associated with hypocomplementemic urticarial vasculitis syndrome. ( 18824286 )
2008
34
A case of precocious emphysema and lung cancer in a woman with a history of hypocomplementemic urticarial vasculitis. ( 18321906 )
2008
35
Clinicopathologic profile of normocomplementemic and hypocomplementemic urticarial vasculitis: a study from South India. ( 18331318 )
2008
36
EBNA1 expression in a lung transplant recipient with hypocomplementemic urticarial vasculitis syndrome. ( 17516536 )
2007
37
Inflammatory myositis complicating hypocomplementemic urticarial vasculitis despite on-going immunosuppression. ( 16944070 )
2007
38
Hypocomplementemic urticarial vasculitis: a rare presentation of systemic lupus erythematosus. ( 16961508 )
2006
39
Crescentic membranoproliferative glomerulonephritis and hypocomplementemic urticarial vasculitis. ( 16013022 )
2005
40
Urticarial vasculitis and hypocomplementemic urticarial vasculitis syndrome. ( 15120147 )
2004
41
Basilar hyperlucency in a patient with emphysema due to hypocomplementemic urticarial vasculitis syndrome. ( 12841861 )
2003
42
Hypocomplementemic urticarial vasculitis with angioedema, a rare presentation of systemic lupus erythematosus: rapid response to rituximab. ( 14576655 )
2003
43
Diffuse large B cell lymphoma in a patient with hypocomplementemic urticarial vasculitis. ( 14597790 )
2003
44
Valvular heart disease in patients with hypocomplementemic urticarial vasculitis syndrome associated with Jaccoud's arthropathy. ( 12140126 )
2002
45
Hypocomplementemic urticarial vasculitis: report of a 12-year-old girl with systemic lupus erythematosus. ( 12399749 )
2002
46
Hypocomplementemic urticarial vasculitis, jaccoud's arthropathy, valvular heart disease, and reversible tracheal stenosis: a surfeit of syndromes. ( 11246684 )
2001
47
Renal transplantation in a patient with hypocomplementemic urticarial vasculitis syndrome. ( 11136180 )
2001
48
Membranoproliferative glomerulonephritis associated with hypocomplementemic urticarial vasculitis after complete remission of membranous nephropathy. ( 11399923 )
2001
49
Crescentic glomerulonephritis complicating the course of a hypocomplementemic urticarial vasculitis. ( 11105804 )
2000
50
Hypocomplementemic urticarial vasculitis: report of a pediatric case. ( 10775080 )
2000

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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