HNSHA
MCID: CNG017
MIFTS: 35

Congenital Nonspherocytic Hemolytic Anemia (HNSHA)

Categories: Blood diseases

Aliases & Classifications for Congenital Nonspherocytic Hemolytic Anemia

MalaCards integrated aliases for Congenital Nonspherocytic Hemolytic Anemia:

Name: Congenital Nonspherocytic Hemolytic Anemia 12 15 17
Anemia, Hemolytic, Congenital Nonspherocytic 43 71
Hereditary Non-Spherocytic Hemolytic Anemia 74 29
Hereditary Nonspherocytic Hemolytic Anemia 12 54
Congenital Nonspherocytic Hemolytic Anaemia 12
Hereditary Nonspherocytic Hemolytic Anaemia 12
Hnsha 12

Classifications:



External Ids:

Disease Ontology 12 DOID:2861
MeSH 43 D000746
SNOMED-CT 67 301317008
UMLS 71 C0002882

Summaries for Congenital Nonspherocytic Hemolytic Anemia

MalaCards based summary : Congenital Nonspherocytic Hemolytic Anemia, also known as anemia, hemolytic, congenital nonspherocytic, is related to glucosephosphate isomerase deficiency and anemia, x-linked, with or without neutropenia and/or platelet abnormalities. An important gene associated with Congenital Nonspherocytic Hemolytic Anemia is GPI (Glucose-6-Phosphate Isomerase), and among its related pathways/superpathways are Collagen chain trimerization and Glycosaminoglycan metabolism. The drug pyruvate has been mentioned in the context of this disorder. Affiliated tissues include skin, skeletal muscle and liver, and related phenotypes are Increased viability and Increased viability

Wikipedia : 74 Glucose-6-phosphate dehydrogenase deficiency (G6PDD) is an inborn error of metabolism that predisposes... more...

Related Diseases for Congenital Nonspherocytic Hemolytic Anemia

Diseases related to Congenital Nonspherocytic Hemolytic Anemia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 50)
# Related Disease Score Top Affiliating Genes
1 glucosephosphate isomerase deficiency 31.5 GPI G6PD
2 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 31.3 HBB G6PD
3 glucosephosphate dehydrogenase deficiency 30.0 PKLR HBB G6PD ACKR1
4 hemolytic anemia 29.8 PKLR PIEZO1 PGK1 NT5C3A HBB GPI
5 congenital hemolytic anemia 29.1 PKLR PIEZO1 HBB GPI G6PD CDIN1
6 pyruvate kinase deficiency of red cells 29.0 PRCP PKM PKLR PIEZO1 PFKM KNG1
7 triosephosphate isomerase deficiency 11.6
8 heinz body anemias 11.5
9 deficiency anemia 10.9
10 splenomegaly 10.5
11 glucose phosphate isomerase deficiency 10.5
12 adenylate kinase deficiency, hemolytic anemia due to 10.4
13 hemolytic anemia, nonspherocytic, due to hexokinase deficiency 10.4
14 anemia, nonspherocytic hemolytic, due to g6pd deficiency 10.4
15 hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency 10.4
16 congenital disorder of glycosylation, type ib 10.3 GPI G6PD
17 gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to 10.2
18 glycogen storage disease vii 10.2
19 glutathione synthetase deficiency 10.2
20 phosphoglycerate kinase 1 deficiency 10.2
21 hemosiderosis 10.2
22 neonatal jaundice 10.2
23 bilirubin metabolic disorder 10.2
24 glycogen storage disease 10.2
25 liver cirrhosis 10.2
26 rare hereditary hemochromatosis 10.2
27 epileptic encephalopathy, early infantile, 50 10.2 PKLR PIEZO1
28 glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to 10.2
29 hemochromatosis, type 1 10.2
30 autosomal recessive disease 10.2
31 thalassemia 10.2
32 myopathy 10.2
33 cataract 10.2
34 parotitis 10.2 KLK4 G6PD
35 anemia, congenital dyserythropoietic, type ib 10.1 G6PD CDIN1
36 occlusion precerebral artery 10.1 KNG1 F11
37 neonatal anemia 10.1 PKLR CDIN1
38 factor xii deficiency 10.1 KLKB1 F11
39 blood group incompatibility 10.0 PKM G6PD
40 c1 inhibitor deficiency 10.0 KNG1 KLKB1 KLK4
41 renal hypertension 10.0 KNG1 KLKB1 KLK4
42 kernicterus 9.9 PKM G6PD
43 pigmentation disease 9.8 PKM G6PD
44 sickle cell disease 9.8 HBB G6PD
45 high molecular weight kininogen deficiency 9.8 KNG1 KLKB1 KLK4 F11
46 sickle cell anemia 9.7 HBB G6PD ACKR1
47 parasitic protozoa infectious disease 9.7 HBB G6PD ACKR1
48 hereditary spherocytosis 9.7 PKLR PIEZO1 HBB G6PD
49 acute chest syndrome 9.7 HBB G6PD
50 hereditary elliptocytosis 9.5 PIEZO1 HBB G6PD ACKR1

Graphical network of the top 20 diseases related to Congenital Nonspherocytic Hemolytic Anemia:



Diseases related to Congenital Nonspherocytic Hemolytic Anemia

Symptoms & Phenotypes for Congenital Nonspherocytic Hemolytic Anemia

GenomeRNAi Phenotypes related to Congenital Nonspherocytic Hemolytic Anemia according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability GR00342-S-1 8.8 PGK1
2 Increased viability GR00342-S-3 8.8 PGK1
3 Increased viability GR00386-A-1 8.8 PKM

MGI Mouse Phenotypes related to Congenital Nonspherocytic Hemolytic Anemia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.36 ACKR1 F11 G6PD GPI KLK4 KLKB1

Drugs & Therapeutics for Congenital Nonspherocytic Hemolytic Anemia

Drugs for Congenital Nonspherocytic Hemolytic Anemia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 pyruvate Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 An Open-Label, Multicenter, Extension Study of AG-348 in Adult Subjects With Pyruvate Kinase Deficiency Previously Enrolled in AG-348 Studies Recruiting NCT03853798 Phase 3 AG-348
2 An Open-Label Study To Evaluate the Efficacy and Safety of AG-348 in Regularly Transfused Adult Subjects With Pyruvate Kinase (PK) Deficiency Active, not recruiting NCT03559699 Phase 3 AG-348
3 A Phase 3, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Efficacy and Safety of AG-348 in Not Regularly Transfused Adult Subjects With Pyruvate Kinase Deficiency Active, not recruiting NCT03548220 Phase 3 AG-348;Placebo
4 A Phase 2, Open Label, Randomized, Dose Ranging, Safety, Efficacy, Pharmacokinetic and Pharmacodynamic Study of AG-348 in Adult Patients With Pyruvate Kinase Deficiency Active, not recruiting NCT02476916 Phase 2 AG-348
5 Gene Therapy for Pyruvate Kinase Deficiency (PKD): A Phase I Clinical Trial to Evaluate the Safety of the Infusion of Autologous CD34+ Cells Transduced With a Lentiviral Vector Carrying the Codon Optimized Red Cell Pyruvate Kinase (coRPK) Gene in Adult and Pediatric Subjects With PKD Recruiting NCT04105166 Phase 1
6 Pyruvate Kinase Deficiency (PKD) Natural History Study Completed NCT02053480
7 Pyruvate Kinase Deficiency Epidemiological Study. An International, Multicentre, Epidemiological Observational Study Recruiting NCT03866590
8 Pyruvate Kinase Deficiency Global Longitudinal Registry Recruiting NCT03481738

Search NIH Clinical Center for Congenital Nonspherocytic Hemolytic Anemia

Cochrane evidence based reviews: anemia, hemolytic, congenital nonspherocytic

Genetic Tests for Congenital Nonspherocytic Hemolytic Anemia

Genetic tests related to Congenital Nonspherocytic Hemolytic Anemia:

# Genetic test Affiliating Genes
1 Hereditary Non-Spherocytic Hemolytic Anemia 29

Anatomical Context for Congenital Nonspherocytic Hemolytic Anemia

MalaCards organs/tissues related to Congenital Nonspherocytic Hemolytic Anemia:

40
Skin, Skeletal Muscle, Liver

Publications for Congenital Nonspherocytic Hemolytic Anemia

Articles related to Congenital Nonspherocytic Hemolytic Anemia:

(show top 50) (show all 105)
# Title Authors PMID Year
1
[Glucose phosphate isomerase deficiency with congenital nonspherocytic hemolytic anemia]. 61 54
7927011 1994
2
A new glucose-6-phosphate dehydrogenase variant with congenital nonspherocytic hemolytic anemia (G6PD Genova). Biochemical characterization and mosaicism expression in the heterozygote. 54 61
2307454 1990
3
Glucose Phosphate Isomerase Deficiency: High Prevalence of p.Arg347His Mutation in Indian Population Associated with Severe Hereditary Non-Spherocytic Hemolytic Anemia Coupled with Neurological Dysfunction. 61
31030358 2019
4
Congenital Nonspherocytic Hemolytic Anemia Caused by Krüppel-Like Factor 1 Gene Variants: Another Case Report. 61
31645145 2019
5
Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study. 61
29549173 2018
6
New missense homozygous mutation (Q270Ter) in the pyrimidine 5' nucleotidase type I-related gene in two Indian families with hereditary non-spherocytic hemolytic anemia. 61
23139015 2013
7
Hereditary non-spherocytic hemolytic anemia and severe glucose phosphate isomerase deficiency in an Indian patient homozygous for the L487F mutation in the human GPI gene. 61
22782259 2012
8
A new simple approach for the determination of pyrimidine 5'-nucleotidase activity in human erythrocytes using an ELISA reader. 61
22078096 2012
9
SARS-CoV nucleocapsid protein interacts with cellular pyruvate kinase protein and inhibits its activity. 61
22222284 2012
10
Red cell pyruvate kinase deficiency in Southern Sardinia. 61
20870434 2010
11
Myopathic form of phosphoglycerate kinase (PGK) deficiency: a new case and pathogenic considerations. 61
19157875 2009
12
Molecular basis of pyrimidine 5'-nucleotidase deficiency caused by 3 newly identified missense mutations (c.187T>C, c.469G>C and c.740T>C) and a tabulation of known mutations. 61
18499901 2008
13
Transgenic rescue of hemolytic anemia due to red blood cell pyruvate kinase deficiency. 61
17550844 2007
14
Red cell pyruvate kinase deficiency in neonatal jaundice cases in India. 61
17127778 2006
15
Red cell glucose phosphate isomerase (GPI): a molecular study of three novel mutations associated with hereditary nonspherocytic hemolytic anemia. 54
17041899 2006
16
Hereditary erythrocyte pyrimidine 5'-nucleotidase deficiency: a biochemical, genetic and clinical overview. 61
16522554 2006
17
[From gene to disease; hereditary non-spherocytic hemolytic anemia caused by pyruvate kinase deficiency]. 61
12382367 2002
18
A new exon 9 glucose-6-phosphate dehydrogenase mutation (G6PD "Rehovot") in a Jewish Ethiopian family with variable phenotypes. 54
11112389 2000
19
Novel mutations and structural implications in R-type pyruvate kinase-deficient patients from Southern Italy. 54
9482576 1998
20
Glucosephosphate isomerase (GPI) deficiency mutations associated with hereditary nonspherocytic hemolytic anemia (HNSHA). 54
9446754 1997
21
G6PD: population genetics and clinical manifestations. 61
8861278 1996
22
Mutations in pyruvate kinase. 54
8664896 1996
23
Case report: pyruvate kinase deficiency. 61
7566675 1995
24
Glucose-6 phosphate dehydrogenase mutations and haplotypes in various ethnic groups. 54
7803800 1995
25
Three new exon 10 glucose-6-phosphate dehydrogenase mutations. 61
7655862 1995
26
GPI Mount Scopus--a variant of glucosephosphate isomerase deficiency. 54
8218542 1993
27
Low substrate affinity of pyruvate kinase variant (PK Sapporo) caused by a single amino acid substitution (426 Arg-->Gln) associated with hereditary hemolytic anemia. 61
8481523 1993
28
Molecular abnormality of a Japanese glucose-6-phosphate dehydrogenase variant (G6PD Tokyo) associated with hereditary non-spherocytic hemolytic anemia. 61
1733837 1992
29
Molecular defect of a phosphoglycerate kinase variant (PGK-Matsue) associated with hemolytic anemia: Leu----Pro substitution caused by T/A----C/G transition in exon 3. 61
2001457 1991
30
The clinical biochemistry of 5'-nucleotidase. 61
2183704 1990
31
[Glucosephosphate dehydrogenase deficiency in erythrocytes and leukocytes of patients with congenital nonspherocytic hemolytic anemia and favism]. 61
3405890 1988
32
Elevated pyruvate kinase activity in patients with hemolytic anemia due to red cell pyruvate kinase "deficiency". 61
3674096 1987
33
Two new variants of glucose-6-phosphate dehydrogenase associated with hereditary non-spherocytic hemolytic anemia: G6PD Wayne and G6PD Huron. 61
3565372 1987
34
Clinical symptoms and biochemical properties of three new glucosephosphate isomerase variants. 61
3719111 1986
35
Normal mRNA content in a phosphoglycerate kinase variant with severe enzyme deficiency. 61
3840329 1985
36
Ultrastructural and histochemical abnormalities of skeletal muscle in a patient with a new variant (type Homburg) of glucosephosphate isomerase (GPI) deficiency. 61
3995809 1985
37
Triose phosphate isomerase deficiency: prenatal diagnosis. 61
3973779 1985
38
Phosphofructokinase deficiency associated with congenital nonspherocytic hemolytic anemia and mild myopathy: biochemical and morphological studies on the muscle. 61
6228037 1983
39
Hereditary disorders of red cell enzymes in the Embden-Meyerhof pathway. 61
6222645 1983
40
Glucosephosphate-isomerase type Kaiserslautern. A new variant causing congenital nonspherocytic hemolytic anemia. 61
6839028 1983
41
Two cases of phosphofructokinase deficiency associated with congenital hemolytic anemia found in Japan. 61
6220601 1983
42
A case of congenital nonspherocytic hemolytic anemia associated with glucosephosphate isomerase (GPI) deficiency-GPI 'Kinki'. 61
6858560 1983
43
Hereditary disorders of enzymes in the Embden-Meyerhof pathway of glycolysis. 61
6225712 1982
44
[A case of congenital nonspherocytic hemolytic anemia associated with defective glucose phosphate isomerase]. 61
7143727 1982
45
Severe-glucose-6-phosphate dehydrogenase (G6PD) deficiency associated with chronic hemolytic anemia, granulocyte dysfunction, and increased susceptibility to infections: description of a new molecular variant (G6PD Barcelona). 61
7055648 1982
46
Extreme deficiency of L-type pyruvate kinase with moderate clinical expression. 61
7055983 1982
47
G6PD Varadero. A new variant of glucose-6-phosphate dehydrogenase associated with congenital nonspherocytic hemolytic anemia. 61
7123903 1982
48
G6Pd Kanazawa: a new variant of glucose-6-phosphate dehydrogenase associated with congenital nonspherocytic hemolytic anemia. 61
6812368 1982
49
A red cell pyruvate kinase mutant with normal L-type PK in the liver. 61
7173870 1982
50
G6PD-Puerto Limón: a new deficient variant of glucose-6-phosphate dehydrogenase associated with congenital nonspherocytic hemolytic anemia. 61
7160841 1982

Variations for Congenital Nonspherocytic Hemolytic Anemia

Expression for Congenital Nonspherocytic Hemolytic Anemia

Search GEO for disease gene expression data for Congenital Nonspherocytic Hemolytic Anemia.

Pathways for Congenital Nonspherocytic Hemolytic Anemia

Pathways related to Congenital Nonspherocytic Hemolytic Anemia according to GeneCards Suite gene sharing:

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.62 PRCP KNG1 KLKB1 KLK4 F11
2
Show member pathways
12.55 PKM PKLR PGK1 PFKM GPI G6PD
3
Show member pathways
12.38 PKM PKLR PGK1 PFKM GPI
4
Show member pathways
11.87 PRCP KNG1 KLKB1 F11
5 11.86 KNG1 KLKB1 F11
6
Show member pathways
11.57 PKM PKLR PGK1 PFKM
7 11.5 PKM PFKM G6PD
8
Show member pathways
11.43 PFKM GPI G6PD
9
Show member pathways
11.42 PKM PKLR PGK1 PFKM GPI G6PD
10 11.29 KLKB1 KLK4 F11
11 11.12 PKM PGK1
12 11.1 KNG1 HBB
13 10.54 PGK1 GPI G6PD
14
Show member pathways
10.46 GPI G6PD
15 10.25 PKM PKLR PGK1

GO Terms for Congenital Nonspherocytic Hemolytic Anemia

Cellular components related to Congenital Nonspherocytic Hemolytic Anemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.32 PRCP PKM PKLR PGK1 KNG1 KLKB1
2 ficolin-1-rich granule lumen GO:1904813 9.13 PKM HBB GPI

Biological processes related to Congenital Nonspherocytic Hemolytic Anemia according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.81 PRCP PKM HBB GPI
2 blood coagulation GO:0007596 9.71 KNG1 KLKB1 HBB F11
3 metabolic process GO:0008152 9.7 PKM PKLR PFKM
4 glucose homeostasis GO:0042593 9.65 PRCP PFKM GPI
5 hemostasis GO:0007599 9.56 KNG1 KLKB1 GPI F11
6 plasminogen activation GO:0031639 9.5 PGK1 KLKB1 F11
7 ATP biosynthetic process GO:0006754 9.49 PKM PKLR
8 glucose 6-phosphate metabolic process GO:0051156 9.46 GPI G6PD
9 blood coagulation, intrinsic pathway GO:0007597 9.46 PRCP KNG1 KLKB1 F11
10 pyruvate biosynthetic process GO:0042866 9.43 PKM PKLR
11 positive regulation of fibrinolysis GO:0051919 9.37 KLKB1 F11
12 glycolytic process GO:0006096 9.35 PKM PKLR PGK1 PFKM GPI
13 canonical glycolysis GO:0061621 9.02 PKM PKLR PGK1 PFKM GPI

Molecular functions related to Congenital Nonspherocytic Hemolytic Anemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 serine-type endopeptidase activity GO:0004252 9.5 KLKB1 KLK4 F11
2 monosaccharide binding GO:0048029 9.26 PFKM GPI
3 serine-type peptidase activity GO:0008236 9.26 PRCP KLKB1 KLK4 F11
4 potassium ion binding GO:0030955 9.16 PKM PKLR
5 pyruvate kinase activity GO:0004743 8.62 PKM PKLR

Sources for Congenital Nonspherocytic Hemolytic Anemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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