ORPHA:447
Paroxysmal nocturnal hemoglobinuria
Synonyms: Marchiafava-Micheli disease · PNH
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- All ages
- Status
- active
Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematopoietic stem cell disorder characterized by corpuscular hemolytic anemia, bone marrow failure and frequent thrombotic events.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Paroxysmal nocturnal hemoglobinuria | Marchiafava-Micheli disease · PNH |
| fr | Hémoglobinurie paroxystique nocturne | HPN · Maladie de Marchiafava-Micheli |
| de | Hämoglobinurie, nächtliche paroxysmale | Marchiafava-Micheli-Anämie · PNH |
| es | Hemoglobinuria paroxística nocturna | Enfermedad de Marchiafava-Micheli |
| it | Emoglobinuria parossistica notturna | EPN · Malattia di Marchiafava-Micheli |
| nl | Paroxysmale nachtelijke hemoglobinurie | PNH · Ziekte van Marchiafava-Micheli |
| pt | Hemoglobinúria paroxística noturna | Doença de Marchiafava-Micheli |
| pl | Nocna napadowa hemoglobinuria | Choroba Marchiafava i Micheli · PNH |
| cs | Paroxysmální noční hemoglobinurie | PNH · Marchiafavův-Micheliův syndrom · Marchiafa-Micheliův syndrom |
| uk | Пароксизмальна нічна гемоглобінурія | Хвороба Маркіафава-Мікелі · PNH |
| zh | 阵发性睡眠性血红蛋白尿症 | Marchiafava-Micheli病 |
| tr | Paroksismal noktürnal hemoglobinüri | PNH · Marchiafava-Micheli hastalığı |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300818 | E | validated | |
| OMIM | 615399 | BTNT | validated | |
| ICD-10 | D59.5 | E | specific | validated |
| ICD-11 | 3A21.0 | E | specific | validated |
| MONDO | 0100244 | E | validated | |
| MeSH | D006457 | E | validated | |
| UMLS | C0024790 | E | validated | |
| GARD | 7337 | E | validated | |
| MedDRA | 10034042 | 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 (4):
- ORPHA:309515Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
rare inborn errors of metabolism; rare genetic diseases - ORPHA:164823Rare acquired aplastic anemia
rare hematological diseases; rare transplant-related disorders - ORPHA:182047Rare acquired hemolytic anemia
rare hematological diseases - ORPHA:158300Rare genetic hematologic disease
rare genetic diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PIGA | Disease-causing somatic mutation(s) in | Assessed | HGNC:8957 | ENSG00000165195 | 311770 | Xp22.2 | phosphatidylinositol glycan anchor biosynthesis class A | 22305531[PMID] |
5
Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-9 / 1 000 000 | 0.35 / 100 000 | United Kingdom | Value and class | Validated | 34060690[PMID] |
| Point prevalence | 1-9 / 100 000 | 3.81 / 100 000 | United Kingdom | Value and class | Validated | 34060690[PMID] |
| Point prevalence | 1-9 / 100 000 | 2 / 100 000 | Europe | Value and class | Validated | European Medicines Agency 2016[OTHER] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
44 annotations · validated 2021-09-27| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0030272 | Abnormal erythrocyte enzyme activity | |
| Very frequent (99-80%) | ||
| HP:0001903 | Anemia | |
| HP:0025406 | Asthenia | |
| HP:0003641 | Hemoglobinuria | |
| HP:0001878 | Hemolytic anemia | |
| Frequent (79-30%) | ||
| HP:0100749 | Chest pain | |
| HP:0012622 | Chronic kidney disease | |
| HP:0032106 | Conjunctival icterus | |
| HP:0040303 | Decreased serum iron | |
| HP:0002625 | Deep venous thrombosis | |
| HP:0002094 | Dyspnea | |
| HP:0002574 | Episodic abdominal pain | |
| HP:0032147 | Erythromelalgia | |
| HP:0002315 | Headache | |
| HP:0012543 | Hemosiderinuria | |
| HP:0003138 | Increased blood urea nitrogen | |
| HP:0025435 | Increased circulating lactate dehydrogenase concentration | |
| HP:0020181 | Reduced haptoglobin level | |
| HP:0001923 | Reticulocytosis | |
| HP:0001907 | Thromboembolism | |
| HP:0008282 | Unconjugated hyperbilirubinemia | |
| HP:0004936 | Venous thrombosis | |
| Occasional (29-5%) | ||
| HP:0001919 | Acute kidney injury | |
| HP:0004420 | Arterial thrombosis | |
| HP:0002639 | Budd-Chiari syndrome | |
| HP:0012132 | Erythroid hyperplasia | |
| HP:0000822 | Hypertension | |
| HP:0000802 | Impotence | |
| HP:0000952 | Jaundice | |
| HP:0001254 | Lethargy | |
| HP:0001882 | Leukopenia | |
| HP:0030248 | Mesenteric venous thrombosis | |
| HP:0001658 | Myocardial infarction | |
| HP:0032043 | Odynophagia | |
| HP:0001876 | Pancytopenia | |
| HP:0000093 | Proteinuria | |
| HP:0002204 | Pulmonary embolism | |
| HP:0000083 | Renal insufficiency | |
| HP:0001297 | Stroke | |
| HP:0001873 | Thrombocytopenia | |
| Very rare (<4-1%) | ||
| HP:0002015 | Dysphagia | |
| HP:0025271 | Esophageal spasms | |
| HP:0003076 | Glycosuria | |
| HP:0001994 | Renal Fanconi syndrome | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 29486674[PMID]_27913482[PMID]_29246924[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/447
- This record as JSON: /data/d/447.json