PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1

General Information (adopted from Orphanet):

Synonyms, Signs: PNH1
Number of Symptoms 2
OrphanetNr:
OMIM Id: 300818
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0004818) Paroxysmal nocturnal hemoglobinuria 4 / 7739
2
(OMIM) Defective GlcNAc-PI synthesis 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Paroxysmal nocturnal hemoglobinuria (PNH) is an uncommon acquired hemolytic anemia that often manifests with hemoglobinuria, abdominal pain, smooth muscle dystonias, fatigue, and thrombosis. The disease results from the expansion of hematopoietic stem cells harboring a mutation in the ...
Clinical Description OMIM PNH is characterized by complement-mediated hemolysis and cloned expansion of affected cells of various hematopoietic lineages that are thought to be derived from an abnormal multipotential hematopoietic stem cell (Rosse, 1989). Although not inherited, PNH is an acquired ...
Molecular genetics OMIM Ueda et al. (1992) established affected B-lymphocyte cell lines from 2 patients with PNH, and Takahashi et al. (1993) demonstrated that the early step of GPI anchor biosynthesis was deficient in these cells. Complementation analysis by somatic cell ...