PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2

General Information (adopted from Orphanet):

Synonyms, Signs: PNH2
Number of Symptoms 12
OrphanetNr:
OMIM Id: 615399
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
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
(HPO:0012378) Fatigue 50 / 7739
3
(HPO:0002315) Headache 175 / 7739
4
(HPO:0002829) Arthralgia 79 / 7739
5
(HPO:0002014) Diarrhea 225 / 7739
6
(HPO:0002027) Abdominal pain 184 / 7739
7
(HPO:0001025) Urticaria 73 / 7739
8
(HPO:0001878) Hemolytic anemia 83 / 7739
9
(HPO:0002094) Dyspnea 132 / 7739
10
(OMIM) Decreased expression of GPI-anchored proteins on blood cells 1 / 7739
11
(HPO:0001428) Somatic mutation 100 / 7739
12
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Krawitz et al. (2013) reported a Caucasian woman who was diagnosed with hemolytic anemia with a negative direct antiglobulin test at age 44 years. She experienced frequent hemolytic crises, abdominal pain, diarrhea, headache, arthralgia, dyspnea, and fatigue for ...
Molecular genetics OMIM In a woman with paroxysmal nocturnal hemoglobinuria, Krawitz et al. (2013) identified a heterozygous germline splice site mutation in the PIGT gene (610272.0002). The mutation was found by targeted enrichment of all exons of genes involved in GPI ...