ORPHA:91138
Cryoglobulinemic vasculitis
Synonyms: Essential cryoglobulinemia · Essential mixed cryoglobulinemia · Mixed cryoglobulinemia · Primary cryoglobulinemia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- All ages
- Status
- active
A rare immune complex-mediated vasculitis characterized by the presence of circulating cryoprecipitable immune complexes in the serum, manifesting clinically with the classical triad of purpura, weakness and arthralgia.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cryoglobulinemic vasculitis | Essential cryoglobulinemia · Essential mixed cryoglobulinemia · Mixed cryoglobulinemia · Primary cryoglobulinemia |
| fr | Vascularite cryoglobulinémique | Cryoglobulinémie essentielle · Cryoglobulinémie essentielle mixte · Cryoglobulinémie mixte · Cryoglobulinémie primaire |
| de | Kryoglobulinämische Vaskulitis | Kryoglobulinämie, essentielle · Kryoglobulinämie, essentielle gemischte · Kryoglobulinämie, gemischte · Kryoglobulinämie, primäre |
| es | Vasculitis crioglobulinémica | Crioglobulinemia esencial · Crioglobulinemia esencial mixta · Crioglobulinemia mixta · Crioglobulinemia primaria |
| it | Vasculite crioglobulinemica | Crioglobulinemia essenziale · Crioglobulinemia mista · Crioglobulinemia mista essenziale · Crioglobulinemia primitiva · MC |
| nl | Cryoglobulinemische vasculitis | Essentiële cryoglobulinemie · Essentiële gemengde cryoglobulinemie · Gemengde cryoglobulinemie · Primaire cryoglobulinemie |
| pt | Crioglobulinemia mista | |
| pl | Krioglobulinowe zapalenie naczyń | Krioglobulinemia mieszana · Krioglobulinemia pierwotna · MC · Mieszana krioglobulinemia |
| cs | Kryoglobulinemická vaskulitida | Esenciální kryoglobulinémie · Esenciální smíšená kryoglobulinémie · MC · Smíšená kryoglobulinémie · Primární kryoglobulinémie |
| uk | Кріоглобулінемічний васкуліт | Есенціальна кріоглобулінемія · Есенціальна змішана кріоглобулінемія · Змішана кріоглобулінемія · Первинна кріоглобулінемія |
| zh | 冷球蛋白血症血管炎 | 特发性混合性冷球蛋白血症 |
| tr | Kriyoglobulinemik vaskülit | Karma kriyoglobulinemi · Primer kriyoglobulinemi · Esansiyel kriyoglobulinemi · Esansiyel karma kriyoglobulinemi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 123550 | E | validated | |
| ICD-10 | D89.1 | NTBT | inclusion | validated |
| ICD-11 | 4A44.90 | E | specific | validated |
| MONDO | 0007407 | E | validated | |
| UMLS | C0340992 | E | validated | |
| GARD | 6386 | E | validated | |
| MedDRA | 10027756 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (5):
- 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 - ORPHA:264973Secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis
rare respiratory diseases; rare transplant-related disorders - ORPHA:209007Systemic inflammatory disease associated with an acquired peripheral neuropathy
rare neurological diseases - ORPHA:567560Systemic vasculitis associated with glomerulopathy
rare renal diseases; rare transplant-related disorders
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 1 / 100 000 | United States | Value and class | Validated | 6996482[PMID] |
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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
29 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012224 | Circulating immune complexes | |
| HP:0100778 | Cryoglobulinemia | |
| HP:0000965 | Cutis marmorata | |
| HP:0001945 | Fever | |
| HP:0100721 | Mediastinal lymphadenopathy | |
| HP:0001324 | Muscle weakness | |
| HP:0000967 | Petechiae | |
| HP:0000979 | Purpura | |
| HP:0200042 | Skin ulcer | |
| HP:0002633 | Vasculitis | |
| Frequent (79-30%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0001392 | Abnormality of the liver | |
| HP:0002829 | Arthralgia | |
| HP:0001369 | Arthritis | |
| HP:0100758 | Gangrene | |
| HP:0005244 | Gastrointestinal infarctions | |
| HP:0100820 | Glomerulopathy | |
| HP:0000790 | Hematuria | |
| HP:0002240 | Hepatomegaly | |
| HP:0009831 | Mononeuropathy | |
| HP:0003326 | Myalgia | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0000093 | Proteinuria | |
| HP:0000083 | Renal insufficiency | |
| HP:0007141 | Sensorimotor neuropathy | |
| HP:0001744 | Splenomegaly | |
| HP:0006562 | Viral hepatitis | |
| Occasional (29-5%) | ||
| HP:0002239 | Gastrointestinal hemorrhage | |
| HP:0001097 | Keratoconjunctivitis sicca | |
Run the differential on the 10 obligate / very frequent terms
Annotation source: 18796155[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/91138
- This record as JSON: /data/d/91138.json