HNSHA
MCID: CNG017
MIFTS: 29

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
Anemia, Hemolytic, Congenital Nonspherocytic 44 73
Hereditary Non-Spherocytic Hemolytic Anemia 76 29
Hereditary Nonspherocytic Hemolytic Anemia 12 55
Hnsha 12

Classifications:



External Ids:

Disease Ontology 12 DOID:2861
MeSH 44 D000746
SNOMED-CT 68 82775009
UMLS 73 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 drug pyruvate has been mentioned in the context of this disorder. Affiliated tissues include skin, and related phenotype is hematopoietic system.

Wikipedia : 76 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 11)
# Related Disease Score Top Affiliating Genes
1 pyruvate kinase deficiency of red cells 31.5 AMPD3 G6PD OTOR PFKM PKLR
2 hemolytic anemia 31.0 G6PD GPI NT5C3A PKLR
3 glucosephosphate isomerase deficiency 30.7 G6PD GPI
4 triosephosphate isomerase deficiency 11.4
5 glucose phosphate isomerase deficiency 10.4
6 myopathy 10.2
7 neonatal jaundice 9.9 G6PD PKLR
8 glycogen storage disease v 9.9 AMPD3 PFKM
9 congenital hemolytic anemia 9.9 G6PD GPI PKLR
10 glycogen storage disease vii 9.9 AMPD3 PFKM
11 hereditary spherocytosis 9.9 G6PD PKLR

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:

46
# 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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Pyruvate Kinase Deficiency Global Longitudinal Registry Recruiting NCT03481738
2 Pyruvate Kinase Deficiency Natural History Study Active, not recruiting NCT02053480

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:

41
Skin

Publications for Congenital Nonspherocytic Hemolytic Anemia

Articles related to Congenital Nonspherocytic Hemolytic Anemia:

(show all 40)
# Title Authors Year
1
New missense homozygous mutation (Q270Ter) in the pyrimidine 5' nucleotidase type I-related gene in two Indian families with hereditary non-spherocytic hemolytic anemia. ( 23139015 )
2013
2
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. ( 22782259 )
2012
3
[From gene to disease; hereditary non-spherocytic hemolytic anemia caused by pyruvate kinase deficiency]. ( 12382367 )
2002
4
[Glucose phosphate isomerase deficiency with congenital nonspherocytic hemolytic anemia]. ( 7927011 )
1994
5
Molecular abnormality of a Japanese glucose-6-phosphate dehydrogenase variant (G6PD Tokyo) associated with hereditary non-spherocytic hemolytic anemia. ( 1733837 )
1992
6
A new glucose-6-phosphate dehydrogenase variant with congenital nonspherocytic hemolytic anemia (G6PD Genova). Biochemical characterization and mosaicism expression in the heterozygote. ( 2307454 )
1990
7
A case of congenital nonspherocytic hemolytic anemia associated with glucosephosphate isomerase (GPI) deficiency-GPI 'Kinki'. ( 6858560 )
1983
8
Phosphofructokinase deficiency associated with congenital nonspherocytic hemolytic anemia and mild myopathy: biochemical and morphological studies on the muscle. ( 6228037 )
1983
9
Glucosephosphate-isomerase type Kaiserslautern. A new variant causing congenital nonspherocytic hemolytic anemia. ( 6839028 )
1983
10
G6PD-Puerto LimA^n: a new deficient variant of glucose-6-phosphate dehydrogenase associated with congenital nonspherocytic hemolytic anemia. ( 7160841 )
1982
11
G6PD Varadero. A new variant of glucose-6-phosphate dehydrogenase associated with congenital nonspherocytic hemolytic anemia. ( 7123903 )
1982
12
G6Pd Kanazawa: a new variant of glucose-6-phosphate dehydrogenase associated with congenital nonspherocytic hemolytic anemia. ( 6812368 )
1982
13
G6PD San Francisco: a new variant of glucose-6-phosphate dehydrogenase associated with congenital nonspherocytic hemolytic anemia. ( 7353069 )
1980
14
Augsburg-type glucosephosphate isomerase deficiency. A new variant causing congenital nonspherocytic hemolytic anemia in a German family. ( 7353078 )
1980
15
Gd(-) Rennes, a new deficient variant of glucose-6-phosphate dehydrogenase associated with congenital nonspherocytic hemolytic anemia found in France. ( 7450748 )
1980
16
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
17
Congenital nonspherocytic hemolytic anemia with an unstable hexokinase variant. ( 618553 )
1978
18
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
19
Congenital nonspherocytic hemolytic anemia associated with glucosephosphate isomerase deficiency: variant Paderborn. ( 859289 )
1977
20
Congenital nonspherocytic hemolytic anemia due to glucose-6-phosphate dehydrogenase East Harlem: a new deficient variant. ( 830903 )
1977
21
Glucosephosphate isomerase deficiency type LiA"ge: a new variant with congenital nonspherocytic hemolytic anemia. ( 912103 )
1977
22
Two new glucose 6-phosphate dehydrogenase variants associated with congenital nonspherocytic hemolytic anemia found in Japan: GD(-) Tokushima and GD(-) Tokyo. ( 1008056 )
1976
23
Three cases in two families with congenital nonspherocytic hemolytic anemia due to defective glucosephosphate isomerase: GPI Matsumoto. ( 1243218 )
1975
24
Glucose phosphate isomerase deficiency with congenital nonspherocytic hemolytic anemia: a new variant (type Nordhorn). I. Clinical and genetic studies. ( 4809302 )
1974
25
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
26
Congenital nonspherocytic hemolytic anemia due to glucose-6-phosphate dehydrogenase deficiency in a Japanese child. Clinical and metabolic studies. ( 4264123 )
1972
27
Congenital nonspherocytic hemolytic anemia associated with an unusual erythrocyte hexokinase abnormality. ( 5458022 )
1970
28
Congenital nonspherocytic hemolytic anemia at Rhode Island Hospital. ( 5253714 )
1969
29
Congenital nonspherocytic hemolytic anemia associated with erythrocyte glucose-6-phosphate dehydrogenase deficiency in a Negro family. ( 5930024 )
1966
30
Congenital nonspherocytic hemolytic anemia, associated with glutathione deficiency of the erythrocytes. Hematologic, biochemical and genetic studies. ( 5901982 )
1966
31
Disorders in the metabolism of erythrocytes in a case of congenital nonspherocytic hemolytic anemia with glucose-6-phosphate dehydrogenase deficiency. ( 5918725 )
1966
32
HEMOCHROMATOSIS AND CONGENITAL NONSPHEROCYTIC HEMOLYTIC ANEMIA IN SIBLINGS. ( 14056526 )
1963
33
ERYTHROCYTE PYRUVATE KINASE DEFICIENCY RESULTING IN CONGENITAL NONSPHEROCYTIC HEMOLYTIC ANEMIA. ( 14053562 )
1963
34
Congenital nonspherocytic hemolytic anemia. Report of two cases. ( 14465685 )
1962
35
Demonstration of metabolic anomaly of congenital nonspherocytic hemolytic anemia and beneficial effect of vitamin B12 upon it. ( 13918870 )
1961
36
Congenital nonspherocytic hemolytic anemia. ( 13756265 )
1961
37
Enzymatic anomaly of erythrocytes in congenital nonspherocytic hemolytic anemia. 2. ( 13918878 )
1961
38
Enzyme deficiency in erythrocytes in congenital nonspherocytic hemolytic anemia. ( 13674822 )
1959
39
Metabolic abnormalities of erythrocytes from patients with congenital nonspherocytic hemolytic anemia. ( 13847572 )
1959
40
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 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.54 AMPD3 G6PD GPI NT5C3A PFKM PKLR
2
Show member pathways
12.31 G6PD GPI PFKM PKLR
3
Show member pathways
12.16 GPI PFKM PKLR
4
Show member pathways
12.11 AMPD3 NT5C3A PKLR
5
Show member pathways
11.59 GPI PFKM
6
Show member pathways
11.51 PFKM PKLR
7 11.41 G6PD GPI
8 11.27 G6PD PFKM
9
Show member pathways
11.25 G6PD GPI PFKM PKLR
10
Show member pathways
10.94 G6PD GPI PFKM
11 10.53 G6PD GPI
12 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 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
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