PNH2
MCID: PRX067
MIFTS: 23

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 57 72 29 6 70
Pnh2 57 72
Hemoglobinuria, Nocturnal, Paroxysmal, Type 2 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
somatic mutation
autosomal dominant

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


HPO:

31
paroxysmal nocturnal hemoglobinuria 2:
Inheritance autosomal dominant inheritance somatic mutation


Classifications:



Summaries for Paroxysmal Nocturnal Hemoglobinuria 2

UniProtKB/Swiss-Prot : 72 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, is also known as pnh2, and has symptoms including fatigue, abdominal pain and dyspnea. An important gene associated with Paroxysmal Nocturnal Hemoglobinuria 2 is PIGT (Phosphatidylinositol Glycan Anchor Biosynthesis Class T). Related phenotypes are fatigue and hemolytic anemia

More information from OMIM: 615399 PS300818

Related Diseases for Paroxysmal Nocturnal Hemoglobinuria 2

Diseases in the Paroxysmal Nocturnal Hemoglobinuria family:

Paroxysmal Nocturnal Hemoglobinuria 1 Paroxysmal Nocturnal Hemoglobinuria 2

Symptoms & Phenotypes for Paroxysmal Nocturnal Hemoglobinuria 2

Human phenotypes related to Paroxysmal Nocturnal Hemoglobinuria 2:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 fatigue 31 HP:0012378
2 hemolytic anemia 31 HP:0001878
3 abdominal pain 31 HP:0002027
4 dyspnea 31 HP:0002094
5 arthralgia 31 HP:0002829
6 urticaria 31 HP:0001025
7 headache 31 HP:0002315
8 diarrhea 31 HP:0002014
9 paroxysmal nocturnal hemoglobinuria 31 HP:0004818

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
fatigue
headache

Abdomen:
abdominal pain

Skeletal:
arthralgia

Abdomen Gastrointestinal:
diarrhea

Hematology:
hemolytic anemia

Respiratory:
dyspnea

Skin Nails Hair Skin:
urticaria

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

Clinical features from OMIM®:

615399 (Updated 20-May-2021)

UMLS symptoms related to Paroxysmal Nocturnal Hemoglobinuria 2:


fatigue; abdominal pain; dyspnea; arthralgia; headache; diarrhea

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

Genetic tests related to Paroxysmal Nocturnal Hemoglobinuria 2:

# Genetic test Affiliating Genes
1 Paroxysmal Nocturnal Hemoglobinuria 2 29 PIGT

Anatomical Context for Paroxysmal Nocturnal Hemoglobinuria 2

Publications for Paroxysmal Nocturnal Hemoglobinuria 2

Articles related to Paroxysmal Nocturnal Hemoglobinuria 2:

(show all 14)
# Title Authors PMID Year
1
A case of paroxysmal nocturnal hemoglobinuria caused by a germline mutation and a somatic mutation in PIGT. 6 57
23733340 2013
2
Clinical profile and outcome of pigment-induced nephropathy. 61
29942498 2018
3
Phosphine-iminopyridines as platforms for catalytic hydrofunctionalization of alkenes. 61
25978588 2015
4
A 36-fold multiple unit cell and switchable anisotropic dielectric responses in an ammonium magnesium formate framework. 61
25585529 2015
5
Synthesis, characterization and optical properties of an amino-functionalized gold thiolate cluster: Au10(SPh-pNH2)10. 61
24461840 2014
6
Programming MIL-101Cr for selective and enhanced CO2 adsorption at low pressure by postsynthetic amine functionalization. 61
24196659 2014
7
First reported correlation between the calculated gas-phase proton macroaffinities of some metal complexes with their measured formation constants in solution: Zn(II) complexes of a series of tripodal aliphatic tetraamines. 61
18348546 2008
8
Three genes specifically expressed during phosphate deficiency in Pholiota nameko strain N2 encode hydrophobins. 61
14608471 2004
9
Metal assembly in novel dendrimers with porphyrin cores. 61
12517139 2003
10
Over-expression of parathion hydrolase of Flavobacterium balustinum in E. coli: purification and characterization of His-tagged parathion hydrolase. 61
22896893 2002
11
[Tritium-labeled reactive analogs of [1,6-alpha-aminosuberic acid, 8-arginine] vasopressin (deamino-dicarba-[8-arginine] vasopressin. synthesis and properties]. 61
7160823 1982
12
Synthesis and biological activities of arginine-vasopressin analogues with reactive groups. 61
7358340 1980
13
[Affinity labeling and differential labeling of leucine aminopeptidase with diazopeptide inhibitors]. 61
7211066 1980
14
[Affinity labeling of leucine aminopeptidase with new substrate analog inhibitors]. 61
970045 1976

Variations for Paroxysmal Nocturnal Hemoglobinuria 2

ClinVar genetic disease variations for Paroxysmal Nocturnal Hemoglobinuria 2:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PIGT NM_015937.6(PIGT):c.1401-2A>G SNV risk factor 64650 rs587777028 GRCh37: 20:44053134-44053134
GRCh38: 20:45424494-45424494
2 PIGT NM_015937.6(PIGT):c.197del (p.Tyr66fs) Deletion risk factor 548927 rs1555876283 GRCh37: 20:44045166-44045166
GRCh38: 20:45416526-45416526
3 PIGT NM_015937.6(PIGT):c.763_766AAGA[1] (p.Lys256fs) Microsatellite risk factor 599265 rs776974834 GRCh37: 20:44048855-44048858
GRCh38: 20:45420215-45420218
4 PIGT NM_015937.6(PIGT):c.1072G>A (p.Val358Met) SNV Uncertain significance 977934 GRCh37: 20:44050061-44050061
GRCh38: 20:45421421-45421421
5 PIGT NM_015937.6(PIGT):c.634C>T (p.His212Tyr) SNV Uncertain significance 417893 rs574183358 GRCh37: 20:44048183-44048183
GRCh38: 20:45419543-45419543
6 PIGT NM_015937.6(PIGT):c.949A>G (p.Ile317Val) SNV Uncertain significance 547916 rs773624614 GRCh37: 20:44049249-44049249
GRCh38: 20:45420609-45420609

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
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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