ORPHA:36412
Hypocomplementemic urticarial vasculitis
Synonyms: Anti-C1q vasculitis · Mac Duffie hypocomplementemic urticarial vasculitis · Mac Duffie syndrome · McDuffie hypocomplementemic urticarial vasculitis · McDuffie syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive, Not applicable
- Age of onset
- Adult, Childhood
- Status
- active
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.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hypocomplementemic urticarial vasculitis | Anti-C1q vasculitis · Mac Duffie hypocomplementemic urticarial vasculitis · Mac Duffie syndrome · McDuffie hypocomplementemic urticarial vasculitis · McDuffie syndrome |
| fr | Vascularite urticarienne hypocomplémentémique | Syndrome de MacDuffie · Syndrome de McDuffie · Vascularite anti-C1q · Vascularite urticarienne hypocomplémentémique de Mac Duffie · Vascularite urticarienne hypocomplémentémique de McDuffie |
| de | Vaskulitis, hypokomplementämische urtikarielle | Hypokomplementämisches Urtikaria-Vaskulitis-Syndrom · Mac-Duffie-Syndrom · McDuffie hypokomplementämische urtikarielle Vaskulitis |
| es | Vasculitis urticarial hipocomplementémica | Síndrome de Mac Duffie · Síndrome de McDuffie · Vasculitis anti-C1q · Vasculitis urticarial hipocomplementémica de Mac Duffie · Vasculitis urticarial hipocomplementémica de McDuffie |
| it | Vasculite orticarioide ipocomplementemica | Sindrome di MacDuffie · Sindrome di McDuffie · Vasculite anti-C1q · Vasculite leucocitoclastica ipocomplementemica · Vasculite orticarioide ipocomplementemica di Mac Duffie · Vasculite orticarioide ipocomplementemica di McDuffie |
| nl | Hypocomplementemische urticariële vasculitis | Syndroom van McDuffie · Anti-C1q-vasculitis · Hypocomplementemische urticariële vasculitis van Mac Duffie · Hypocomplementemische urticariële vasculitis van McDuffie · Syndroom van Mac Duffie |
| pt | Vasculite urticariforme hipocomplementémica | Síndrome Mac Duffie · Síndrome McDuffie · Vasculite anti-C1q · Vasculite urticariforme hipocomplementémica Mac Duffie |
| pl | Pokrzywkowe zapalenie naczyń z obniżeniem stężenia składowych dopełniacza | Pokrzywkowe zapalenie naczyń z obniżeniem stężenia składowych dopełniacza Mac Duffie · Pokrzywkowe zapalenie naczyń z obniżeniem stężenia składowych dopełniacza McDuffie · Zapalenie naczyń anty-C1q · Zespół Mac Duffie · Zespół McDuffie |
| cs | Hypokomplementemická urtikariální vaskulitida | Anti-C1q vaskulitida · Mac Duffieho hypokomplementemická urtikariální vaskulitida · Mac Duffieho syndrom · McDuffieho hypokomplementemická urtikariální vaskulitida · McDuffieho syndrom |
| uk | Гіпокомплементарний кропивяночний васкуліт | Анти-C1q васкуліт · Гіпокомплементарний кропивяночний васкуліт Мак Даффі · Синдром Мак Даффі · Гіпокомплементарний кропивяночний васкуліт МакДаффі · Синдром Макдаффі |
| zh | 低补体血性荨麻疹性血管炎 | Mac Duffie低补体性荨麻疹性血管炎 |
| tr | Hipokomplementemik ürtikeryal vaskülit | McDuffie sendromu · Anti-C1q vaskülit · Mac Duffie sendromu · McDuffie hipokomplementemik ürtikeryal vaskülit · Mac Duffie hipokomplementemik ürtikeryal vaskülit |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | M31.8 | NTBT | inclusion | validated |
| ICD-11 | 4A44.91 | E | specific | validated |
| MONDO | 0018227 | E | validated | |
| UMLS | C0343206 | E | validated | |
| GARD | 6725 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:567556Genetic systemic disease with glomerulopathy as a major feature
rare genetic diseases; rare renal diseases; rare transplant-related disorders - ORPHA:156149Immune complex mediated vasculitis
rare systemic and rheumatological diseases; rare circulatory system diseases - ORPHA:280369Rare pediatric vasculitis
rare systemic or rheumatologic diseases of childhood
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DNASE1L3 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:2959 | ENSG00000163687 | 602244 | 3p14.3 | deoxyribonuclease 1L3 | 23666765[PMID] |
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
47 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0004431 | Complement deficiency | |
| HP:0000989 | Pruritus | |
| HP:0000988 | Skin rash | |
| HP:0011944 | Small vessel vasculitis | |
| Frequent (79-30%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0100665 | Angioedema | |
| HP:0001369 | Arthritis | |
| HP:0002960 | Autoimmunity | |
| HP:0000509 | Conjunctivitis | |
| HP:0012735 | Cough | |
| HP:0002094 | Dyspnea | |
| HP:0100534 | Episcleritis | |
| HP:0100820 | Glomerulopathy | |
| HP:0000790 | Hematuria | |
| HP:0002105 | Hemoptysis | |
| HP:0100533 | Inflammatory abnormality of the eye | |
| HP:0007400 | Irregular hyperpigmentation | |
| HP:0002017 | Nausea and vomiting | |
| HP:0000093 | Proteinuria | |
| HP:0000083 | Renal insufficiency | |
| HP:0000554 | Uveitis | |
| Occasional (29-5%) | ||
| HP:0001654 | Abnormal heart valve morphology | |
| HP:0006536 | Airway obstruction | |
| HP:0001541 | Ascites | |
| HP:0001251 | Ataxia | |
| HP:0100021 | Cerebral palsy | |
| HP:0006824 | Cranial nerve paralysis | |
| HP:0002014 | Diarrhea | |
| HP:0002097 | Emphysema | |
| HP:0004374 | Hemiplegia/hemiparesis | |
| HP:0002240 | Hepatomegaly | |
| HP:0100326 | Immunologic hypersensitivity | |
| HP:0001373 | Joint dislocation | |
| HP:0002716 | Lymphadenopathy | |
| HP:0002665 | Lymphoma | |
| HP:0001287 | Meningitis | |
| HP:0003326 | Myalgia | |
| HP:0001698 | Pericardial effusion | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0002202 | Pleural effusion | |
| HP:0002718 | Recurrent bacterial infections | |
| HP:0001315 | Reduced tendon reflexes | |
| HP:0002091 | Restrictive ventilatory defect | |
| HP:0001250 | Seizure | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0000763 | Sensory neuropathy | |
| HP:0001744 | Splenomegaly | |
Run the differential on the 4 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/36412
- This record as JSON: /data/d/36412.json