MCID: PRX067
MIFTS: 21

Paroxysmal Nocturnal Hemoglobinuria 2

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

Aliases & Classifications for Paroxysmal Nocturnal Hemoglobinuria 2

MalaCards integrated aliases for Paroxysmal Nocturnal Hemoglobinuria 2:

Name: Paroxysmal Nocturnal Hemoglobinuria 2 57 75 6 73
Pnh2 57 75
Hemoglobinuria, Nocturnal, Paroxysmal, Type 2 40

Characteristics:

OMIM:

57
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:

32
paroxysmal nocturnal hemoglobinuria 2:
Inheritance somatic mutation autosomal dominant inheritance


Classifications:



Summaries for Paroxysmal Nocturnal Hemoglobinuria 2

UniProtKB/Swiss-Prot : 75 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 abdominal pain, arthralgia and diarrhea. An important gene associated with Paroxysmal Nocturnal Hemoglobinuria 2 is PIGT (Phosphatidylinositol Glycan Anchor Biosynthesis Class T). Related phenotypes are urticaria and hemolytic anemia

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 8.5 LOC107985405 MIR6812 PIGT
2 multiple congenital anomalies-hypotonia-seizures syndrome 3 8.2 LOC107985405 MIR6812 PIGT

Symptoms & Phenotypes for Paroxysmal Nocturnal Hemoglobinuria 2

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Paroxysmal Nocturnal Hemoglobinuria 2:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 urticaria 32 HP:0001025
2 hemolytic anemia 32 HP:0001878
3 diarrhea 32 HP:0002014
4 abdominal pain 32 HP:0002027
5 dyspnea 32 HP:0002094
6 headache 32 HP:0002315
7 arthralgia 32 HP:0002829
8 paroxysmal nocturnal hemoglobinuria 32 HP:0004818
9 fatigue 32 HP:0012378

UMLS symptoms related to Paroxysmal Nocturnal Hemoglobinuria 2:


abdominal pain, arthralgia, diarrhea, dyspnea, fatigue, 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

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

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....