ORPHA:56425
Cold agglutinin disease
Synonyms: CAD · CAS · Chronic cold agglutinin disease · Cold agglutinin syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Multigenic/multifactorial
- Age of onset
- Adult
- Status
- active
Cold agglutinin disease is a type of autoimmune hemolytic anemia defined by the presence of cold autoantibodies (autoantibodies which are active at temperatures below 30°C).
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cold agglutinin disease | CAD · CAS · Chronic cold agglutinin disease · Cold agglutinin syndrome |
| fr | Maladie des agglutinines froides | CAD · CAS · Syndrome des agglutinines froides |
| de | Kälteagglutininkrankheit | CAD · CAS · Kälteagglutinin-Syndrom · Kälteagglutininkrankheit, chronische |
| es | Enfermedad de las crioaglutininas | Enfermedad de la aglutinina fría |
| it | Malattia delle agglutinine fredde | CAD · CAS · Malattia cronica delle agglutinine fredde · Sindrome delle agglutinine fredde |
| nl | Koude agglutinine-ziekte | CAD · CAS · Chronische koude agglutinine-ziekte · Koude agglutinine-syndroom |
| pt | Doença de aglutininas frias | |
| pl | Choroba zimnych aglutynin | CAD · CAS · Przewlekła choroba zimnychaglutynin · Zespół zimnych aglutynin |
| cs | Nemoc chladových aglutininů | CAD · CAS · Chronická nemoc chladových aglutininů · Syndrom chladových aglutininů |
| uk | Хвороба холодового аглютиніну | CAD · CAS · Хронічна хвороба холодового аглютиніну · Синдром холодового аглютиніну |
| zh | 冷凝集素病 | 慢性冷凝集素病 |
| tr | Soğuk aglutinin hastalığı | CAD · CAS · Soğuk aglutinin sendromu · Kronik soğuk aglutinin hastalığı |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | D59.1 | NTBT | inclusion | validated |
| ICD-11 | 3A20.1 | NTBT | index | validated |
| MONDO | 0018922 | E | validated | |
| UMLS | C0175816 | E | validated | |
| GARD | 6130 | 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 (1):
- ORPHA:228312Autoimmune hemolytic anemia, cold type
rare hematological diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only | Not yet validated | ORPHANET |
| Annual incidence | 1-9 / 1 000 000 | 0.19 / 100 000 | Norway | Value and class | Validated | ORPHANET |
| Annual incidence | <1 / 1 000 000 | 0.05 / 100 000 | Italy | Value and class | 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
14 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002829 | Arthralgia | |
| HP:0002960 | Autoimmunity | |
| HP:0012378 | Fatigue | |
| HP:0001878 | Hemolytic anemia | |
| HP:0001324 | Muscle weakness | |
| HP:0000980 | Pallor | |
| Occasional (29-5%) | ||
| HP:0012086 | Abnormal urinary color | |
| HP:0003418 | Back pain | |
| HP:0002014 | Diarrhea | |
| HP:0002315 | Headache | |
| HP:0002240 | Hepatomegaly | |
| HP:0002716 | Lymphadenopathy | |
| HP:0002017 | Nausea and vomiting | |
| HP:0001744 | Splenomegaly | |
Run the differential on the 6 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/56425
- This record as JSON: /data/d/56425.json