Paroxysmal nocturnal hemoglobinuria
General Information (adopted from Orphanet):
| Synonyms, Signs: |
PNH Marchiafava-Micheli disease |
| Number of Symptoms | 2 |
| OrphanetNr: | 447 |
| OMIM Id: |
300818
615399 |
| ICD-10: |
D59.5 |
| UMLs: |
C0024790 |
| MeSH: |
D006457 |
| MedDRA: |
10034042 |
| Snomed: |
1963002 |
Prevalence, inheritance and age of onset:
| Prevalence: | 0.3 of 100 000 [Orphanet] |
| Inheritance: |
|
| Age of onset: |
Childhood Adolescent Adult [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
-Rare genetic disease Rare acquired hemolytic anemia -Rare hematologic disease Rare acquired medullar aplasia -Rare genetic disease -Rare hematologic disease Rare genetic hematologic disease -Rare genetic disease |
Symptom Information:
|
|
(HPO:0004818) | Paroxysmal nocturnal hemoglobinuria | 4 / 7739 | ||||
|
|
(HPO:0001428) | Somatic mutation | 100 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|