MCID: PRX094
MIFTS: 21

Paroxysmal Nocturnal Hemoglobinuria 1

Categories: Genetic diseases, Blood diseases, Rare diseases, Immune diseases, Metabolic diseases, Nephrological diseases

Aliases & Classifications for Paroxysmal Nocturnal Hemoglobinuria 1

MalaCards integrated aliases for Paroxysmal Nocturnal Hemoglobinuria 1:

Name: Paroxysmal Nocturnal Hemoglobinuria 1 57 75 29 6 73
Paroxysmal Nocturnal Hemoglobinuria, Somatic 57 13
Pnh1 57 75

Characteristics:

OMIM:

57
Inheritance:
somatic mutation


HPO:

32
paroxysmal nocturnal hemoglobinuria 1:
Inheritance somatic mutation


Classifications:



External Ids:

OMIM 57 300818
MeSH 44 D006457
SNOMED-CT via HPO 69 124975008 1963002
UMLS 73 C3806670

Summaries for Paroxysmal Nocturnal Hemoglobinuria 1

OMIM : 57 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 PIGA gene, which encodes a protein required for the biosynthesis of glycosylphosphatidylinositol (GPI), a lipid moiety that attaches dozens of proteins to the cell surface. Thus, PNH cells are deficient in cell surface GPI-anchored proteins. This deficiency on erythrocytes leads to intravascular hemolysis, since certain GPI-anchored proteins (i.e., CD55 (125240) and CD59 (107271)) normally function as complement regulators. Free hemoglobin released from intravascular hemolysis leads to circulating nitrous oxide depletion and is responsible for many of the clinical manifestations of PNH, including fatigue, erectile dysfunction, esophageal spasm, and thrombosis (review by Brodsky, 2008). (300818)

MalaCards based summary : Paroxysmal Nocturnal Hemoglobinuria 1, also known as paroxysmal nocturnal hemoglobinuria, somatic, is related to paroxysmal nocturnal hemoglobinuria and hemoglobinuria. An important gene associated with Paroxysmal Nocturnal Hemoglobinuria 1 is PIGA (Phosphatidylinositol Glycan Anchor Biosynthesis Class A). Affiliated tissues include smooth muscle, and related phenotype is paroxysmal nocturnal hemoglobinuria.

UniProtKB/Swiss-Prot : 75 Paroxysmal nocturnal hemoglobinuria 1: A disorder characterized by hemolytic anemia with hemoglobinuria, thromboses in large vessels, and a deficiency in hematopoiesis. Red blood cell breakdown with release of hemoglobin into the urine is manifested most prominently by dark-colored urine in the morning.

Related Diseases for Paroxysmal Nocturnal Hemoglobinuria 1

Diseases in the Paroxysmal Nocturnal Hemoglobinuria family:

Paroxysmal Nocturnal Hemoglobinuria 1 Paroxysmal Nocturnal Hemoglobinuria 2

Diseases related to Paroxysmal Nocturnal Hemoglobinuria 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 paroxysmal nocturnal hemoglobinuria 10.3
2 hemoglobinuria 10.3
3 aplastic anemia 9.1 PIGA TERC
4 myelodysplastic syndrome 8.9 PIGA TERC

Symptoms & Phenotypes for Paroxysmal Nocturnal Hemoglobinuria 1

Symptoms via clinical synopsis from OMIM:

57
Hematology:
paroxysmal nocturnal hemoglobinuria (pnh)

Laboratory Abnormalities:
defective glcnac-pi synthesis


Clinical features from OMIM:

300818

Human phenotypes related to Paroxysmal Nocturnal Hemoglobinuria 1:

32
# Description HPO Frequency HPO Source Accession
1 paroxysmal nocturnal hemoglobinuria 32 HP:0004818

Drugs & Therapeutics for Paroxysmal Nocturnal Hemoglobinuria 1

Search Clinical Trials , NIH Clinical Center for Paroxysmal Nocturnal Hemoglobinuria 1

Genetic Tests for Paroxysmal Nocturnal Hemoglobinuria 1

Genetic tests related to Paroxysmal Nocturnal Hemoglobinuria 1:

# Genetic test Affiliating Genes
1 Paroxysmal Nocturnal Hemoglobinuria 1 29 PIGA

Anatomical Context for Paroxysmal Nocturnal Hemoglobinuria 1

MalaCards organs/tissues related to Paroxysmal Nocturnal Hemoglobinuria 1:

41
Smooth Muscle

Publications for Paroxysmal Nocturnal Hemoglobinuria 1

Variations for Paroxysmal Nocturnal Hemoglobinuria 1

UniProtKB/Swiss-Prot genetic disease variations for Paroxysmal Nocturnal Hemoglobinuria 1:

75
# Symbol AA change Variation ID SNP ID
1 PIGA p.Ser155Phe VAR_005531
2 PIGA p.Asn297Asp VAR_005532
3 PIGA p.Asp40His VAR_015436
4 PIGA p.Gly48Ala VAR_015437
5 PIGA p.Gly48Asp VAR_015438
6 PIGA p.Gly48Val VAR_015439
7 PIGA p.His128Arg VAR_015440
8 PIGA p.Gly239Arg VAR_015441
9 PIGA p.Arg19Trp VAR_015442 rs34422225

ClinVar genetic disease variations for Paroxysmal Nocturnal Hemoglobinuria 1:

6
(show all 21)
# Gene Variation Type Significance SNP ID Assembly Location
1 PIGA NM_002641.3(PIGA): c.1188+2delT deletion Pathogenic rs587776723 GRCh37 Chromosome X, 15342785: 15342785
2 PIGA NM_002641.3(PIGA): c.1188+2delT deletion Pathogenic rs587776723 GRCh38 Chromosome X, 15324663: 15324663
3 PIGA NM_002641.3(PIGA): c.294C> A (p.Tyr98Ter) single nucleotide variant Pathogenic rs199422232 GRCh37 Chromosome X, 15349759: 15349759
4 PIGA NM_002641.3(PIGA): c.294C> A (p.Tyr98Ter) single nucleotide variant Pathogenic rs199422232 GRCh38 Chromosome X, 15331637: 15331637
5 PIGA NM_002641.3(PIGA): c.459_460insA (p.His154Thrfs) insertion Pathogenic rs587776724 GRCh37 Chromosome X, 15349593: 15349594
6 PIGA NM_002641.3(PIGA): c.459_460insA (p.His154Thrfs) insertion Pathogenic rs587776724 GRCh38 Chromosome X, 15331471: 15331472
7 PIGA NM_002641.3(PIGA): c.1115delC (p.Pro372Glnfs) deletion Pathogenic rs587776725 GRCh37 Chromosome X, 15342860: 15342860
8 PIGA NM_002641.3(PIGA): c.1115delC (p.Pro372Glnfs) deletion Pathogenic rs587776725 GRCh38 Chromosome X, 15324738: 15324738
9 PIGA NM_002641.3(PIGA): c.163C> T (p.Gln55Ter) single nucleotide variant Pathogenic rs199422233 GRCh37 Chromosome X, 15349890: 15349890
10 PIGA NM_002641.3(PIGA): c.163C> T (p.Gln55Ter) single nucleotide variant Pathogenic rs199422233 GRCh38 Chromosome X, 15331768: 15331768
11 PIGA NM_002641.3(PIGA): c.249_250insGT (p.Thr84Valfs) insertion Pathogenic rs587776726 GRCh37 Chromosome X, 15349803: 15349804
12 PIGA NM_002641.3(PIGA): c.249_250insGT (p.Thr84Valfs) insertion Pathogenic rs587776726 GRCh38 Chromosome X, 15331681: 15331682
13 PIGA NM_002641.3(PIGA): c.431delC (p.Thr144Lysfs) deletion Pathogenic rs587776727 GRCh37 Chromosome X, 15349622: 15349622
14 PIGA NM_002641.3(PIGA): c.431delC (p.Thr144Lysfs) deletion Pathogenic rs587776727 GRCh38 Chromosome X, 15331500: 15331500
15 PIGA NM_002641.3(PIGA): c.1323_1324delCT (p.Leu442Glufs) deletion Pathogenic rs587776728 GRCh37 Chromosome X, 15339759: 15339760
16 PIGA NM_002641.3(PIGA): c.1323_1324delCT (p.Leu442Glufs) deletion Pathogenic rs587776728 GRCh38 Chromosome X, 15321637: 15321638
17 PIGA PIGA, IVS5DS, G-A, +1, SOMATIC single nucleotide variant Pathogenic
18 PIGA NM_002641.3(PIGA) insertion Pathogenic rs786200912 GRCh37 Chromosome X, 15339727: 15339728
19 PIGA NM_002641.3(PIGA) insertion Pathogenic rs786200912 GRCh38 Chromosome X, 15321605: 15321606
20 LOC110806306 NR_001566.1(TERC): n.-100C> G single nucleotide variant Pathogenic rs199422256 GRCh37 Chromosome 3, 169482948: 169482948
21 LOC110806306 NR_001566.1(TERC): n.-100C> G single nucleotide variant Pathogenic rs199422256 GRCh38 Chromosome 3, 169765160: 169765160

Expression for Paroxysmal Nocturnal Hemoglobinuria 1

Search GEO for disease gene expression data for Paroxysmal Nocturnal Hemoglobinuria 1.

Pathways for Paroxysmal Nocturnal Hemoglobinuria 1

GO Terms for Paroxysmal Nocturnal Hemoglobinuria 1

Sources for Paroxysmal Nocturnal Hemoglobinuria 1

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