MCID: CNG017
MIFTS: 34

Congenital Nonspherocytic Hemolytic Anemia

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 45 74
Hereditary Non-Spherocytic Hemolytic Anemia 77 30
Hereditary Nonspherocytic Hemolytic Anemia 12 56
Hnsha 12

Classifications:



External Ids:

Disease Ontology 12 DOID:2861
MeSH 45 D000746
SNOMED-CT 69 82775009
UMLS 74 C0002882

Summaries for Congenital Nonspherocytic Hemolytic Anemia

MalaCards based summary : Congenital Nonspherocytic Hemolytic Anemia, also known as anemia, hemolytic, congenital nonspherocytic, is related to pyruvate kinase deficiency of red cells and hemolytic anemia. An important gene associated with Congenital Nonspherocytic Hemolytic Anemia is GPI (Glucose-6-Phosphate Isomerase), and among its related pathways/superpathways are Metabolism and Glycosaminoglycan metabolism. The drugs pyruvate and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include skin and liver, and related phenotype is hematopoietic system.

Wikipedia : 77 Glucose-6-phosphate dehydrogenase deficiency (G6PDD) is an inborn error of metabolism that predisposes... more...

Related Diseases for Congenital Nonspherocytic Hemolytic Anemia

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

MGI Mouse Phenotypes related to Congenital Nonspherocytic Hemolytic Anemia:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.02 AMPD3 G6PD GPI PFKM PKLR

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,Phase 2
2 Pharmaceutical Solutions Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Study Evaluating the Efficacy and Safety of AG-348 in Regularly Transfused Adult Participants With Pyruvate Kinase Deficiency (PKD) Recruiting NCT03559699 Phase 3 AG-348
2 A Study to Evaluate Efficacy and Safety of AG-348 in Not Regularly Transfused Adult Participants With Pyruvate Kinase Deficiency (PKD) Recruiting NCT03548220 Phase 3 AG-348;Placebo
3 Extension Study of AG-348 in Adult Participants With Pyruvate Kinase Deficiency Previously Enrolled in AG-348-006 or AG348-C-007 Not yet recruiting NCT03853798 Phase 3 AG-348
4 A Study of AG-348 in Adult Patients With Pyruvate Kinase Deficiency Active, not recruiting NCT02476916 Phase 2 AG-348
5 Pyruvate Kinase Deficiency Global Longitudinal Registry Recruiting NCT03481738
6 Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy Recruiting NCT02635269 Not Applicable
7 Pyruvate Kinase Deficiency Natural History Study Active, not recruiting NCT02053480
8 Pyruvate Kinase Deficiency Epidemiological Study (PIECE) Not yet recruiting NCT03866590

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 30

Anatomical Context for Congenital Nonspherocytic Hemolytic Anemia

MalaCards organs/tissues related to Congenital Nonspherocytic Hemolytic Anemia:

42
Skin, Liver

Publications for Congenital Nonspherocytic Hemolytic Anemia

Articles related to Congenital Nonspherocytic Hemolytic Anemia:

(show all 36)
# Title Authors Year
1
[Glucose phosphate isomerase deficiency with congenital nonspherocytic hemolytic anemia]. ( 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. ( 2307454 )
1990
3
Phosphofructokinase deficiency associated with congenital nonspherocytic hemolytic anemia and mild myopathy: biochemical and morphological studies on the muscle. ( 6228037 )
1983
4
Glucosephosphate-isomerase type Kaiserslautern. A new variant causing congenital nonspherocytic hemolytic anemia. ( 6839028 )
1983
5
A case of congenital nonspherocytic hemolytic anemia associated with glucosephosphate isomerase (GPI) deficiency-GPI 'Kinki'. ( 6858560 )
1983
6
G6Pd Kanazawa: a new variant of glucose-6-phosphate dehydrogenase associated with congenital nonspherocytic hemolytic anemia. ( 6812368 )
1982
7
G6PD Varadero. A new variant of glucose-6-phosphate dehydrogenase associated with congenital nonspherocytic hemolytic anemia. ( 7123903 )
1982
8
G6PD-Puerto Limón: a new deficient variant of glucose-6-phosphate dehydrogenase associated with congenital nonspherocytic hemolytic anemia. ( 7160841 )
1982
9
G6PD San Francisco: a new variant of glucose-6-phosphate dehydrogenase associated with congenital nonspherocytic hemolytic anemia. ( 7353069 )
1980
10
Augsburg-type glucosephosphate isomerase deficiency. A new variant causing congenital nonspherocytic hemolytic anemia in a German family. ( 7353078 )
1980
11
Gd(-) Rennes, a new deficient variant of glucose-6-phosphate dehydrogenase associated with congenital nonspherocytic hemolytic anemia found in France. ( 7450748 )
1980
12
Congenital nonspherocytic hemolytic anemia with an unstable hexokinase variant. ( 618553 )
1978
13
Three new electrophoretically normal glucose-6-phosphate dehydrogenase variants associated with congenital nonspherocytic hemolytic anemia found in Japan: G6PD Ogikubo, Yokohama, and Akita. ( 730178 )
1978
14
Four new electrophoretically slow-moving glucose 6-phosphate dehydrogenase variants associated with congenital nonspherocytic hemolytic anemia found in Japan: Gd(-) Kurume, Gd(-) Fukushima, Gd(-) Yamaguchi and Gd(-) Wakayama. ( 736032 )
1978
15
Congenital nonspherocytic hemolytic anemia due to glucose-6-phosphate dehydrogenase East Harlem: a new deficient variant. ( 830903 )
1977
16
Congenital nonspherocytic hemolytic anemia associated with glucosephosphate isomerase deficiency: variant Paderborn. ( 859289 )
1977
17
Glucosephosphate isomerase deficiency type Liège: a new variant with congenital nonspherocytic hemolytic anemia. ( 912103 )
1977
18
Two new glucose 6-phosphate dehydrogenase variants associated with congenital nonspherocytic hemolytic anemia found in Japan: GD(-) Tokushima and GD(-) Tokyo. ( 1008056 )
1976
19
Three cases in two families with congenital nonspherocytic hemolytic anemia due to defective glucosephosphate isomerase: GPI Matsumoto. ( 1243218 )
1975
20
Glucose phosphate isomerase deficiency with congenital nonspherocytic hemolytic anemia: a new variant (type Nordhorn). I. Clinical and genetic studies. ( 4809302 )
1974
21
Glucose phosphate isomerase deficiency with congenital nonspherocytic hemolytic anemia: a new variant (type Nordhorn). II. Purification and biochemical properties of the defective enzyme. ( 4809304 )
1974
22
Congenital nonspherocytic hemolytic anemia due to glucose-6-phosphate dehydrogenase deficiency in a Japanese child. Clinical and metabolic studies. ( 4264123 )
1972
23
Congenital nonspherocytic hemolytic anemia associated with an unusual erythrocyte hexokinase abnormality. ( 5458022 )
1970
24
Congenital nonspherocytic hemolytic anemia at Rhode Island Hospital. ( 5253714 )
1969
25
Congenital nonspherocytic hemolytic anemia, associated with glutathione deficiency of the erythrocytes. Hematologic, biochemical and genetic studies. ( 5901982 )
1966
26
Disorders in the metabolism of erythrocytes in a case of congenital nonspherocytic hemolytic anemia with glucose-6-phosphate dehydrogenase deficiency. ( 5918725 )
1966
27
Congenital nonspherocytic hemolytic anemia associated with erythrocyte glucose-6-phosphate dehydrogenase deficiency in a Negro family. ( 5930024 )
1966
28
ERYTHROCYTE PYRUVATE KINASE DEFICIENCY RESULTING IN CONGENITAL NONSPHEROCYTIC HEMOLYTIC ANEMIA. ( 14053562 )
1963
29
HEMOCHROMATOSIS AND CONGENITAL NONSPHEROCYTIC HEMOLYTIC ANEMIA IN SIBLINGS. ( 14056526 )
1963
30
Congenital nonspherocytic hemolytic anemia. Report of two cases. ( 14465685 )
1962
31
Congenital nonspherocytic hemolytic anemia. ( 13756265 )
1961
32
Demonstration of metabolic anomaly of congenital nonspherocytic hemolytic anemia and beneficial effect of vitamin B12 upon it. ( 13918870 )
1961
33
Enzymatic anomaly of erythrocytes in congenital nonspherocytic hemolytic anemia. 2. ( 13918878 )
1961
34
Enzyme deficiency in erythrocytes in congenital nonspherocytic hemolytic anemia. ( 13674822 )
1959
35
Metabolic abnormalities of erythrocytes from patients with congenital nonspherocytic hemolytic anemia. ( 13847572 )
1959
36
Congenital nonspherocytic hemolytic anemia; two nonfamilial cases with red cell survival studies. ( 13358015 )
1956

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 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.53 AMPD3 G6PD GPI NT5C3A PFKM PKLR
2
Show member pathways
12.31 G6PD GPI PFKM PKLR
3
Show member pathways
12.13 GPI PFKM PKLR
4
Show member pathways
11.58 GPI PFKM
5
Show member pathways
11.49 PFKM PKLR
6 11.39 G6PD GPI
7 11.25 G6PD PFKM
8
Show member pathways
11.25 G6PD GPI PFKM PKLR
9
Show member pathways
10.94 G6PD GPI PFKM
10 10.53 G6PD GPI
11 9.93 G6PD GPI

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 ficolin-1-rich granule lumen GO:1904813 9.16 AMPD3 GPI
2 cytosol GO:0005829 9.1 AMPD3 G6PD GPI NT5C3A PFKM PKLR
3 secretory granule lumen GO:0034774 8.96 AMPD3 GPI

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

# Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.5 G6PD GPI PKLR
2 glucose homeostasis GO:0042593 9.4 GPI PFKM
3 nucleotide metabolic process GO:0009117 9.37 AMPD3 NT5C3A
4 erythrocyte homeostasis GO:0034101 9.26 AMPD3 GPI
5 glucose 6-phosphate metabolic process GO:0051156 9.16 G6PD GPI
6 glycolytic process GO:0006096 9.13 GPI PFKM PKLR
7 canonical glycolysis GO:0061621 8.8 GPI PFKM PKLR

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

# Name GO ID Score Top Affiliating Genes
1 monosaccharide binding GO:0048029 8.62 GPI PFKM

Sources for Congenital Nonspherocytic Hemolytic Anemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
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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