MCID: HYP193
MIFTS: 33

Hypocomplementemic Urticarial Vasculitis

Categories: Bone diseases, Cardiovascular diseases, Nephrological diseases, Rare diseases
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Aliases & Classifications for Hypocomplementemic Urticarial Vasculitis

MalaCards integrated aliases for Hypocomplementemic Urticarial Vasculitis:

Name: Hypocomplementemic Urticarial Vasculitis 19 58 75 71
Mac Duffie Hypocomplementemic Urticarial Vasculitis 19 58
Mcduffie Hypocomplementemic Urticarial Vasculitis 19 58
Anti-C1q Vasculitis 19 58
Mac Duffie Syndrome 19 58
Mcduffie Syndrome 19 58

Characteristics:


Inheritance:

Autosomal recessive 58

Age Of Onset:

Adult,Childhood 58

Age Of Death:

adult,elderly,normal life expectancy 58

Classifications:

Orphanet: 58  
Rare circulatory system diseases
Rare renal diseases
Rare systemic and rhumatological diseases


Summaries for Hypocomplementemic Urticarial Vasculitis

GARD: 19 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.

MalaCards based summary: Hypocomplementemic Urticarial Vasculitis, also known as mac duffie hypocomplementemic urticarial vasculitis, is related to vasculitis and urticaria, and has symptoms including urticarial vasculitis An important gene associated with Hypocomplementemic Urticarial Vasculitis is DNASE1L3 (Deoxyribonuclease 1 Like 3). Affiliated tissues include lung, skin and kidney, and related phenotypes are skin rash and pruritus

Orphanet: 58 A rare immune complex-mediated small vessel vasculitis characterized by urticaria and hypocomplementemia (low C3, C4 and/or C1q), and usually associated with circulating anti-C1q autoantibodies. Arthritis, pulmonary disease, ocular inflammation are common systemic manifestations.

Wikipedia: 75 Urticarial vasculitis (also known as "chronic urticaria as a manifestation of venulitis",... more...

Related Diseases for Hypocomplementemic Urticarial Vasculitis

Diseases related to Hypocomplementemic Urticarial Vasculitis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 103)
# Related Disease Score Top Affiliating Genes
1 vasculitis 11.2
2 urticaria 10.9
3 glomerulonephritis 10.9
4 hypersensitivity vasculitis 10.8
5 angioedema 10.7
6 membranoproliferative glomerulonephritis 10.7
7 systemic lupus erythematosus 10.6
8 systemic lupus erythematosus 1 10.6
9 exanthem 10.6
10 lupus erythematosus 10.6
11 chronic urticaria 10.6
12 end stage renal disease 10.5
13 nephrotic syndrome 10.5
14 crescentic glomerulonephritis 10.5
15 uveitis 10.5
16 heart valve disease 10.5
17 membranous nephropathy 10.4
18 purpura 10.4
19 arthropathy 10.4
20 osteoarthritis 10.4
21 autoimmune disease 10.4
22 sjogren syndrome 10.4
23 pulmonary disease, chronic obstructive 10.4
24 interstitial nephritis 10.4
25 heart disease 10.4
26 acute kidney failure 10.4
27 proliferative glomerulonephritis 10.4
28 connective tissue disease 10.4
29 cryoglobulinemia, familial mixed 10.3
30 myositis 10.3
31 igg4-related disease 10.3
32 sensorineural hearing loss 10.3
33 sialadenitis 10.3
34 adult respiratory distress syndrome 10.3
35 mitral valve insufficiency 10.3
36 pericarditis 10.3
37 cryoglobulinemia 10.3
38 rapidly progressive glomerulonephritis 10.3
39 aortic valve insufficiency 10.3
40 complement deficiency 10.3
41 lung disease 10.3
42 pfeiffer syndrome 10.1
43 hypercholesterolemia, familial, 1 10.1
44 raynaud disease 10.1
45 rheumatoid arthritis 10.1
46 down syndrome 10.1
47 anemia, autoimmune hemolytic 10.1
48 camptodactyly-arthropathy-coxa vara-pericarditis syndrome 10.1
49 lymphoma, hodgkin, classic 10.1
50 intracranial hypertension, idiopathic 10.1

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:

58 30 (show all 49)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 skin rash 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000988
2 pruritus 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000989
3 complement deficiency 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004431
4 small vessel vasculitis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0011944
5 nausea and vomiting 58 30 Frequent (33%) Frequent (79-30%)
HP:0002017
6 arthritis 58 30 Frequent (33%) Frequent (79-30%)
HP:0001369
7 proteinuria 58 30 Frequent (33%) Frequent (79-30%)
HP:0000093
8 renal insufficiency 58 30 Frequent (33%) Frequent (79-30%)
HP:0000083
9 autoimmunity 58 30 Frequent (33%) Frequent (79-30%)
HP:0002960
10 hematuria 58 30 Frequent (33%) Frequent (79-30%)
HP:0000790
11 abdominal pain 58 30 Frequent (33%) Frequent (79-30%)
HP:0002027
12 dyspnea 58 30 Frequent (33%) Frequent (79-30%)
HP:0002094
13 glomerulopathy 58 30 Frequent (33%) Frequent (79-30%)
HP:0100820
14 hemoptysis 58 30 Frequent (33%) Frequent (79-30%)
HP:0002105
15 uveitis 58 30 Frequent (33%) Frequent (79-30%)
HP:0000554
16 cough 58 30 Frequent (33%) Frequent (79-30%)
HP:0012735
17 conjunctivitis 58 30 Frequent (33%) Frequent (79-30%)
HP:0000509
18 irregular hyperpigmentation 58 30 Frequent (33%) Frequent (79-30%)
HP:0007400
19 episcleritis 58 30 Frequent (33%) Frequent (79-30%)
HP:0100534
20 angioedema 58 30 Frequent (33%) Frequent (79-30%)
HP:0100665
21 ataxia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001251
22 splenomegaly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001744
23 hepatomegaly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002240
24 sensorineural hearing impairment 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000407
25 cranial nerve paralysis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0006824
26 abnormal heart valve morphology 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001654
27 ascites 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001541
28 reduced tendon reflexes 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001315
29 hemiplegia/hemiparesis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004374
30 emphysema 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002097
31 myalgia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003326
32 lymphoma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002665
33 joint dislocation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001373
34 sensory neuropathy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000763
35 meningitis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001287
36 cerebral palsy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100021
37 immunologic hypersensitivity 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100326
38 pleural effusion 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002202
39 diarrhea 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002014
40 lymphadenopathy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002716
41 restrictive ventilatory defect 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002091
42 pericardial effusion 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001698
43 recurrent bacterial infections 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002718
44 seizure 30 Occasional (7.5%) HP:0001250
45 airway obstruction 30 Occasional (7.5%) HP:0006536
46 seizures 58 Occasional (29-5%)
47 peripheral neuropathy 58 Occasional (29-5%)
48 inflammatory abnormality of the eye 58 Frequent (79-30%)
49 obstructive lung disease 58 Occasional (29-5%)

UMLS symptoms related to Hypocomplementemic Urticarial Vasculitis:


urticarial vasculitis

Drugs & Therapeutics for Hypocomplementemic Urticarial Vasculitis

Search Clinical Trials, NIH Clinical Center for Hypocomplementemic Urticarial Vasculitis

Genetic Tests for Hypocomplementemic Urticarial Vasculitis

Anatomical Context for Hypocomplementemic Urticarial Vasculitis

Organs/tissues related to Hypocomplementemic Urticarial Vasculitis:

MalaCards : Lung, Skin, Kidney, Eye, Bone, Heart, Neutrophil

Publications for Hypocomplementemic Urticarial Vasculitis

Articles related to Hypocomplementemic Urticarial Vasculitis:

(show top 50) (show all 155)
# Title Authors PMID Year
1
Correct approach in urticarial vasculitis made early diagnosis of lupus nephritis possible: a case report. 62
35989318 2022
2
DNASE1L3 deficiency, new phenotypes, and evidence for a transient type I IFN signaling. 62
35670985 2022
3
[Update on etiopathogenesis of small vessel vasculitis]. 62
35084556 2022
4
Urticarial vasculitis: Clinical and laboratory findings with a particular emphasis on differential diagnosis. 62
35396080 2022
5
Hypocomplementemic Urticarial Vasculitis Syndrome or Systemic Lupus Erythematosus in Evolution? 62
35481300 2022
6
Biopsy-proven kidney involvement in hypocomplementemic urticarial vasculitis. 62
35172758 2022
7
Extreme gonococcal susceptibility associated with acquired complement deficiency secondary to hypocomplementemic urticarial vasculitis and systemic lupus erythematosus. 62
34736815 2022
8
Hypocomplementemic urticarial vasculitis syndrome revealed by bilateral sudden sensorineural hearing loss. 62
33576777 2021
9
[Retinal involvement in hypocomplementemic urticarial vasculitis (McDuffie syndrome): Report of two cases]. 62
34452765 2021
10
Clinical spectrum of childhood-onset hypocomplementemic urticarial vasculitis in Oman: A retrospective multicenter study. 62
33352266 2021
11
Heart valve disease in hypocomplementemic urticarial vasculitis syndrome: from immune-mediated degeneration to embolic complications of infective endocarditis-a case report. 62
34622135 2021
12
Diagnosis and management of leukocytoclastic vasculitis. 62
33713282 2021
13
Hypocomplementemic urticarial vasculitis syndrome associated with rapidly progressive glomerulonephritis: lessons for the clinical nephrologist. 62
33433859 2021
14
Hypocomplementemic urticarial vasculitis syndrome presenting with bilateral scleritis. 62
33972296 2021
15
Case of hypocomplementemic urticarial vasculitis with Sjögren's syndrome successfully treated with oral corticosteroid and colchicine. 62
33264439 2021
16
Neonatal hypocomplementemic urticarial vasculitis. 62
34938951 2021
17
Hypocomplementemic urticarial vasculitis syndrome: a rare autoimmune entity. 62
32720358 2020
18
Rapid response to combination of hydroxychloroquine and prednisolone in a patient with refractory hypocomplementemic urticarial vasculitis. 62
33174321 2020
19
Chronic obstructive pulmonary disease associated with hypocomplementemic urticarial vasculitis. 62
32504842 2020
20
Development of hypocomplementemic urticarial vasculitis during certolizumab pegol treatment for rheumatoid arthritis: A case report. 62
31990069 2020
21
A case report of hypocomplementemic urticarial vasculitis presenting with membranoproliferative glomerulonephritis. 62
32811472 2020
22
Kidney Involvement in Hypocomplementemic Urticarial Vasculitis Syndrome-A Case-Based Review. 62
32640739 2020
23
Dermal C4d Deposition and Neutrophil Alignment Along the Dermal-Epidermal Junction as a Diagnostic Adjunct for Hypocomplementemic Urticarial Vasculitis (Anti-C1q Vasculitis) and Underlying Systemic Disease. 62
31436578 2020
24
Successful Treatment of Hypocomplementemic Urticarial Vasculitis With Omalizumab: A Case Report. 62
32571766 2020
25
Use of omalizumab in the treatment of hypocomplementemic urticarial vasculitis. 62
32012397 2020
26
[Nephropathy associated with hypocomplementemic urticarial vasculitis: A case report and literature review]. 62
31928955 2020
27
Hypocomplementemic urticarial vasculitis syndrome with gastrointestinal vasculitis and crescentic membranoproliferative glomerulonephritis without immune complex deposits. 62
31586313 2020
28
Reply to Comment on "An Unusual Case of Acquired Angioedema and Monoclonal Gammopathy of Renal Significance in a Middle-Aged Caucasian Female". 62
32493071 2020
29
[Hypocomplementemic urticarial vasculitis syndrome: a rare but not always benign condition]. 62
31794046 2019
30
Exceptional association of hypocomplementemic urticarial vasculitis syndrome (HUVS) and symptomatic pulmonary histoplasmosis: a case-based literature review. 62
30980192 2019
31
Hypocomplementemic urticarial vasculitis and multiple Sclerosis: A rare association or an atypical presentation? 62
30849680 2019
32
The Diagnostic and Clinical Utility of Autoantibodies in Systemic Vasculitis. 62
31544837 2019
33
Analysis of Anti-C1q Autoantibodies by Western Blot. 62
30539577 2019
34
An update on the nomenclature for cutaneous vasculitis. 62
30394939 2019
35
Hypocomplementemic urticarial vasculitis occurring in a patient with relapsing polychondritis. 62
29779215 2018
36
Epidemiology of hypocomplementaemic urticarial vasculitis (anti-C1q vasculitis). 62
29718374 2018
37
Cutis Laxa Acquisita After Urticarial Vasculitis in SLE Patients. 62
29329127 2018
38
Acute respiratory distress syndrome in a man with Epstein-Barr virus infection-induced hypocomplementemic urticarial vasculitis. 62
29458992 2018
39
[Hypocomplementemic urticarial vasculitis]. 62
28457680 2018
40
Hypocomplementemic Urticarial Vasculitis Syndrome With Crescentic Glomerulonephritis. 62
29406049 2018
41
Hypocomplementemic Urticarial Vasculitis Syndrome with Membranous Nephropathy: Case Report. 62
29115092 2017
42
Autoantibodies against complement components in systemic lupus erythematosus - role in the pathogenesis and clinical manifestations. 62
29092674 2017
43
Clinical utility of anti-C1q antibody in primary and secondary vasculitic conditions. 62
29114186 2017
44
A Case of Crescentic Glomerulonephritis Complicated with Hypocomplementemic Urticarial Vasculitis Syndrome and ANCA-Associated Vasculitis. 62
29594143 2017
45
Omalizumab does not improve skin lesions in a patient with hypocomplementemic urticarial vasculitis syndrome. 62
28273376 2017
46
Jaccoud's arthropathy, an unusual manifestation of idiopathic retroperitoneal fibrosis: rapid improvement of symptoms after tocilizumab treatment. 62
28776364 2017
47
An autosomal recessive DNASE1L3-related autoimmune disease with unusual clinical presentation mimicking systemic lupus erythematosus. 62
27821515 2017
48
[Severe membranoproliferative glomerulonephritis with polyadenopathy associated with hypocomplementemic urticarial vasculitis syndrome]. 62
28502374 2017
49
A Case of Hypocomplementemic Urticarial Vasculitis Syndrome Successfully Treated With Omalizumab. 62
29199964 2017
50
Urticarial vasculitis in the childhood with C2 hypocomplementenemia: a rare case. 62
27852431 2016

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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43 MeSH
44 MESH via Orphanet
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56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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