Paroxysmal cold hemoglobinuria
disease diseaseOn this page
Also known as Donath-Landsteiner hemolytic anaemiaDonath-Landsteiner hemolytic anemiaDonath-Landsteiner syndromehemoglobinuria paroxysmal coldPCH
Summary
Paroxysmal cold hemoglobinuria (MONDO:0019533) is a disease. A subtype of autoimmune hemolytic anemia, cold type — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: 1-9 / 1 000 000 (Europe)
- Phenotypes (HPO): 11
Clinical features
Epidemiology
Prevalence records
1 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | Europe | Not yet validated |
Signs & symptoms
Clinical features (HPO)
11 HPO clinical features (Orphanet curated; top 11 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0001890 | Autoimmune hemolytic anemia | Very frequent (80-99%) |
| HP:0001945 | Fever | Very frequent (80-99%) |
| HP:0002205 | Recurrent respiratory infections | Very frequent (80-99%) |
| HP:0002315 | Headache | Very frequent (80-99%) |
| HP:0002829 | Arthralgia | Very frequent (80-99%) |
| HP:0003418 | Back pain | Very frequent (80-99%) |
| HP:0003641 | Hemoglobinuria | Very frequent (80-99%) |
| HP:0004844 | Coombs-positive hemolytic anemia | Very frequent (80-99%) |
| HP:0012086 | Abnormal urinary color | Very frequent (80-99%) |
| HP:0002014 | Diarrhea | Occasional (5-29%) |
| HP:0002017 | Nausea and vomiting | Occasional (5-29%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | paroxysmal cold hemoglobinuria |
| Mondo ID | MONDO:0019533 |
| Orphanet | 90035 |
| ICD-11 | 715111132 |
| SNOMED CT | 127057004 |
| UMLS | C0086774 |
| MedGen | 39693 |
| GARD | 0007335 |
| NORD | 1556 |
| Is cancer (heuristic) | no |
Also known as: Donath-Landsteiner hemolytic anaemia · Donath-Landsteiner hemolytic anemia · Donath-Landsteiner syndrome · hemoglobinuria paroxysmal cold · PCH
Disease family
This is a subtype of autoimmune hemolytic anemia, cold type. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by body system or component › hematologic disorder › autoimmune disorder of blood › autoimmune hemolytic anemia › autoimmune hemolytic anemia, cold type › paroxysmal cold hemoglobinuria
Related subtypes (1): cold agglutinin disease
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
No tiered GWAS variants or ClinVar records for this disease.
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 0.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.