PNH2
MCID: PRX067
MIFTS: 21

Paroxysmal Nocturnal Hemoglobinuria 2 (PNH2)

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

Aliases & Classifications for Paroxysmal Nocturnal Hemoglobinuria 2

MalaCards integrated aliases for Paroxysmal Nocturnal Hemoglobinuria 2:

Name: Paroxysmal Nocturnal Hemoglobinuria 2 58 76 6 74
Pnh2 58 76
Hemoglobinuria, Nocturnal, Paroxysmal, Type 2 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant
somatic mutation

Miscellaneous:
one patient has been reported (last curated september 2013)
features occur episodically
caused by heterozygous germline mutation and second-hit somatic mutation


HPO:

33
paroxysmal nocturnal hemoglobinuria 2:
Inheritance somatic mutation autosomal dominant inheritance


Classifications:



Summaries for Paroxysmal Nocturnal Hemoglobinuria 2

UniProtKB/Swiss-Prot : 76 Paroxysmal nocturnal hemoglobinuria 2: 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.

MalaCards based summary : Paroxysmal Nocturnal Hemoglobinuria 2, also known as pnh2, is related to multiple congenital anomalies-hypotonia-seizures syndrome and multiple congenital anomalies-hypotonia-seizures syndrome 3, and has symptoms including fatigue, arthralgia and dyspnea. An important gene associated with Paroxysmal Nocturnal Hemoglobinuria 2 is PIGT (Phosphatidylinositol Glycan Anchor Biosynthesis Class T). Related phenotypes are fatigue and arthralgia

Description from OMIM: 615399

Related Diseases for Paroxysmal Nocturnal Hemoglobinuria 2

Diseases in the Paroxysmal Nocturnal Hemoglobinuria family:

Paroxysmal Nocturnal Hemoglobinuria 1 Paroxysmal Nocturnal Hemoglobinuria 2

Diseases related to Paroxysmal Nocturnal Hemoglobinuria 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 multiple congenital anomalies-hypotonia-seizures syndrome 9.3 LOC107985405 MIR6812 PIGT
2 multiple congenital anomalies-hypotonia-seizures syndrome 3 9.1 LOC107985405 MIR6812 PIGT

Symptoms & Phenotypes for Paroxysmal Nocturnal Hemoglobinuria 2

Human phenotypes related to Paroxysmal Nocturnal Hemoglobinuria 2:

33 (show all 9)
# Description HPO Frequency HPO Source Accession
1 fatigue 33 HP:0012378
2 arthralgia 33 HP:0002829
3 dyspnea 33 HP:0002094
4 hemolytic anemia 33 HP:0001878
5 abdominal pain 33 HP:0002027
6 diarrhea 33 HP:0002014
7 urticaria 33 HP:0001025
8 headache 33 HP:0002315
9 paroxysmal nocturnal hemoglobinuria 33 HP:0004818

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
fatigue
headache

Respiratory:
dyspnea

Abdomen:
abdominal pain

Skin Nails Hair Skin:
urticaria

Skeletal:
arthralgia

Hematology:
hemolytic anemia

Abdomen Gastrointestinal:
diarrhea

Laboratory Abnormalities:
decreased expression of gpi-anchored proteins on blood cells

Clinical features from OMIM:

615399

UMLS symptoms related to Paroxysmal Nocturnal Hemoglobinuria 2:


fatigue, arthralgia, dyspnea, abdominal pain, diarrhea, headache

Drugs & Therapeutics for Paroxysmal Nocturnal Hemoglobinuria 2

Search Clinical Trials , NIH Clinical Center for Paroxysmal Nocturnal Hemoglobinuria 2

Genetic Tests for Paroxysmal Nocturnal Hemoglobinuria 2

Anatomical Context for Paroxysmal Nocturnal Hemoglobinuria 2

Publications for Paroxysmal Nocturnal Hemoglobinuria 2

Articles related to Paroxysmal Nocturnal Hemoglobinuria 2:

# Title Authors Year
1
Synthesis, characterization and optical properties of an amino-functionalized gold thiolate cluster: Au10(SPh-pNH2)10. ( 24461840 )
2014

Variations for Paroxysmal Nocturnal Hemoglobinuria 2

ClinVar genetic disease variations for Paroxysmal Nocturnal Hemoglobinuria 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PIGT NM_015937.5(PIGT): c.1401-2A> G single nucleotide variant risk factor rs587777028 GRCh37 Chromosome 20, 44053134: 44053134
2 PIGT NM_015937.5(PIGT): c.1401-2A> G single nucleotide variant risk factor rs587777028 GRCh38 Chromosome 20, 45424494: 45424494
3 PIGT NM_015937.5(PIGT): c.634C> T (p.His212Tyr) single nucleotide variant Uncertain significance rs574183358 GRCh37 Chromosome 20, 44048183: 44048183
4 PIGT NM_015937.5(PIGT): c.634C> T (p.His212Tyr) single nucleotide variant Uncertain significance rs574183358 GRCh38 Chromosome 20, 45419543: 45419543
5 PIGT NM_015937.5(PIGT): c.949A> G (p.Ile317Val) single nucleotide variant Uncertain significance rs773624614 GRCh37 Chromosome 20, 44049249: 44049249
6 PIGT NM_015937.5(PIGT): c.949A> G (p.Ile317Val) single nucleotide variant Uncertain significance rs773624614 GRCh38 Chromosome 20, 45420609: 45420609
7 PIGT NM_015937.5(PIGT): c.197delA (p.Tyr66Serfs) deletion risk factor rs1555876283 GRCh37 Chromosome 20, 44045166: 44045166
8 PIGT NM_015937.5(PIGT): c.197delA (p.Tyr66Serfs) deletion risk factor rs1555876283 GRCh38 Chromosome 20, 45416526: 45416526
9 PIGT NM_015937.6(PIGT): c.766_769del (p.Lys256Thrfs) deletion risk factor rs776974834 GRCh37 Chromosome 20, 44048860: 44048863
10 PIGT NM_015937.6(PIGT): c.766_769del (p.Lys256Thrfs) deletion risk factor rs776974834 GRCh38 Chromosome 20, 45420220: 45420223

Expression for Paroxysmal Nocturnal Hemoglobinuria 2

Search GEO for disease gene expression data for Paroxysmal Nocturnal Hemoglobinuria 2.

Pathways for Paroxysmal Nocturnal Hemoglobinuria 2

GO Terms for Paroxysmal Nocturnal Hemoglobinuria 2

Sources for Paroxysmal Nocturnal Hemoglobinuria 2

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
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20 FMA
29 GO
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31 HGMD
32 HMDB
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35 ICD10 via Orphanet
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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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