Paroxysmal cold hemoglobinuria
Synonyms: Donath-Landsteiner hemolytic anemia · Donath-Landsteiner syndrome · PCH
- Type
- Disease
- Group
- Disorder
- Inheritance
- Multigenic/multifactorial
- Age of onset
- Childhood
- Status
- active
Paroxysmal cold hemoglobinuria (PCH) is a very rare subtype of autoimmune hemolytic anemia (AIHA), caused by the presence of cold-reacting autoantibodies in the blood and characterized by the sudden presence of hemoglobinuria, typically after exposure to cold temperatures.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Paroxysmal cold hemoglobinuria | Donath-Landsteiner hemolytic anemia · Donath-Landsteiner syndrome · PCH |
| fr | Hémoglobinurie paroxystique a frigore | Anémie hémolytique de Donath-Landsteiner · Hémoglobinurie paroxystique induite par le froid · PCH · Syndrome de Donath-Landsteiner |
| de | Paroxysmale Kältehämoglobinurie | Donath-Landsteiner-Syndrom · PCH · Donath-Landsteiner hämolytische Anämie |
| es | Hemoglobinuria paroxística por frío | Anemia hemolítica de Donath-Landsteiner · Síndrome de Donath-Landsteiner |
| it | Emoglobinuria parossistica a frigore | Anemia emolitica di Donath-Landsteiner · PCH · Sindrome di Donath-Landsteiner |
| nl | Paroxysmale koude hemoglobinurie | Hemolytische anemie van Donath-Landsteiner · PCH · Syndroom van Donath-Landsteiner |
| pt | Hemoglobinúria paroxística pelo frio | |
| pl | Napadowa zimna hemoglobinuria | Niedokrwistość hemolityczna Donatha i Landsteinera · PCH · Zespół Donatha i Landsteinera |
| cs | Paroxysmální chladová hemoglobinurie | Donathova-Landsteinerova hemolytická anémie · PCH · Donathův-Landsteinerův syndrom · Donath-Landsteinerův syndrom |
| uk | Пароксизмальна холодова гемоглобінурія | Гемолітична анемія Доната-Ландштейнера · Синдром Доната-Ландштейнера · PCH |
| zh | 阵发性冷性血红蛋白尿 | Donath-Landsteiner血红蛋白尿 |
| tr | Paroksismal soğuk hemoglobinüri | PCH · Donath-Landsteiner sendromu · Donath-Landsteiner hemolitik anemi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | D59.6 | NTBT | inclusion | validated |
| ICD-11 | 3A20.3 | E | specific | validated |
| MONDO | 0019533 | E | validated | |
| MeSH | C538618 | E | validated | |
| UMLS | C0086774 | E | validated | |
| GARD | 7335 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:228312Autoimmune hemolytic anemia, cold type
rare hematological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | — | Europe | 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.
HPO phenotypes
11 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012086 | Abnormal urinary color | |
| HP:0002829 | Arthralgia | |
| HP:0001890 | Autoimmune hemolytic anemia | |
| HP:0003418 | Back pain | |
| HP:0004844 | Coombs-positive hemolytic anemia | |
| HP:0001945 | Fever | |
| HP:0002315 | Headache | |
| HP:0003641 | Hemoglobinuria | |
| HP:0002205 | Recurrent respiratory infections | |
| Occasional (29-5%) | ||
| HP:0002014 | Diarrhea | |
| HP:0002017 | Nausea and vomiting | |
Run the differential on the 9 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/90035
- This record as JSON: /data/d/90035.json