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MCID: CNG027
MIFTS: 47

Congenital Hemolytic Anemia

Categories: Blood diseases, Genetic diseases, Immune diseases, Metabolic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Congenital Hemolytic Anemia

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MalaCards integrated aliases for Congenital Hemolytic Anemia:

Name: Congenital Hemolytic Anemia 12 76 53 6 15
Anemia, Hemolytic, Congenital 44 73
Anemia Hemolytic Congenital 53 55
Hereditary Hemolytic Anemia 12

Classifications:

MalaCards categories:
Global: Rare diseases Metabolic diseases Genetic diseases
Anatomical: Immune diseases Blood diseases
See all MalaCards categories (disease lists)
ICD10: 33


External Ids:

Disease Ontology 12 DOID:589
ICD10 33 D58.9 D58.8
ICD9CM 35 282 282.9
MeSH 44 D000745
NCIt 50 C34379
SNOMED-CT 68 38911009 42601008
UMLS 73 C0002881
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Summaries for Congenital Hemolytic Anemia

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MalaCards based summary : Congenital Hemolytic Anemia, also known as anemia, hemolytic, congenital, is related to congenital nonspherocytic hemolytic anemia and hereditary spherocytosis. An important gene associated with Congenital Hemolytic Anemia is SPTA1 (Spectrin Alpha, Erythrocytic 1), and among its related pathways/superpathways are Carbon metabolism and Binding and Uptake of Ligands by Scavenger Receptors. The drugs Sirolimus and Everolimus have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and spleen, and related phenotypes are Decreased viability and Decreased viability

Wikipedia : 76 Congenital hemolytic anemia (or hereditary hemolytic anemia) refers to hemolytic anemia which is... more...

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Related Diseases for Congenital Hemolytic Anemia

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Diseases in the Hemolytic Anemia family:

Anemia, Autoimmune Hemolytic Congenital Hemolytic Anemia
Hemolytic Anemia Due to Erythrocyte Adenosine Deaminase Overproduction

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

(show top 50) (show all 73)
# Related Disease Score Top Affiliating Genes
1 congenital nonspherocytic hemolytic anemia 32.2 G6PD GPI PKLR
2 hereditary spherocytosis 30.9 G6PD HBB HBE1 HBG1 HCLS1 KLF1
3 pyruvate kinase deficiency of red cells 30.4 G6PD PKLR
4 hemolytic anemia 30.4 EPO G6PD GPI HBA2 HBB HP
5 pyropoikilocytosis, hereditary 30.1 SPTA1 SPTB
6 thalassemia 29.5 EPO HBA2 HBB HBE1 HBG1 TF
7 deficiency anemia 29.4 EPO G6PD HBA2 HBB HP IL3
8 triosephosphate isomerase deficiency 11.6
9 congenital dyserythropoietic anemia 11.4
10 glycogen storage disease xii 11.1
11 pseudohyperkalemia, familial, 2, due to red cell leak 11.1
12 splenic infarction 10.2 HBB PIEZO1
13 hemoglobin zurich 10.2 HBA2 HBB
14 methemoglobinemia, beta-globin type 10.2 HBA2 HBB
15 immune hydrops fetalis 10.2 HBA2 PIEZO1
16 glutathione peroxidase deficiency 10.2 HBA2 HBB
17 glucosephosphate isomerase deficiency 10.2 G6PD GPI
18 acquired polycythemia 10.2 EPO TF
19 heinz body anemias 10.2 HBA2 HBB
20 hemoglobinemia 10.2 HBB HP
21 folic acid deficiency anemia 10.2 EPO TF
22 retinitis pigmentosa and erythrocytic microcytosis 10.2 EPO IL3
23 hypochromic microcytic anemia 10.2 HBA2 HBB TF
24 neonatal jaundice 10.2 G6PD PKLR SPTA1
25 fetal hemoglobin quantitative trait locus 1 10.2 HBB HBG1
26 miliary tuberculosis 10.2 ADA EPO
27 microcytic anemia 10.2 EPO HBA2 TF
28 blackwater fever 10.2 G6PD HP
29 hemoglobin c disease 10.1 HBB HBE1
30 glucosephosphate dehydrogenase deficiency 10.1 G6PD HBB HP
31 methemoglobinemia 10.1 G6PD HBB HP
32 melancholia 10.1 HP TF
33 hemoglobin e disease 10.1 HBB HBE1
34 iron overload in africa 10.1 HBB HP TF
35 plasmodium falciparum malaria 10.1 G6PD HBB HP
36 blood group incompatibility 10.1 G6PD KLF1
37 vaginal discharge 10.1 HP SPTB
38 autosomal genetic disease 10.1 HBB HBE1 HBG1
39 spherocytosis, type 3 10.1 HBB KLF1 SPTA1
40 phosphoglycerate kinase deficiency 10.0
41 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome 10.0 HBB HBG1 KLF1
42 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome 10.0 HBB HBG1 KLF1
43 congenital disorder of glycosylation, type ia 10.0 HP TF
44 sickle cell disease 10.0 EPO G6PD HBA2 HBB HBG1
45 sickle cell anemia 10.0 EPO G6PD HBA2 HBB HBG1
46 hemosiderosis 10.0
47 anemia, nonspherocytic hemolytic, due to g6pd deficiency 10.0 G6PD HP
48 erythroleukemia, familial 9.9 EPO HBB HBG1 KLF1
49 neonatal anemia 9.9 EPO HBA2 HBG1 KLF1
50 liver cirrhosis 9.9

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



Diseases related to Congenital Hemolytic Anemia
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Symptoms & Phenotypes for Congenital Hemolytic Anemia

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 10.07 PKLR
2 Decreased viability GR00221-A-2 10.07 PKLR
3 Decreased viability GR00221-A-4 10.07 PKLR
4 Decreased viability GR00301-A 10.07 PKLR
5 Decreased viability GR00342-S-3 10.07 PKLR
6 Decreased viability GR00381-A-1 10.07 TPI1
7 Decreased viability GR00402-S-2 10.07 ADA ATP11C EPO G6PD GPI HBA2
8 no effect GR00402-S-1 9.62 ADA ATP11C EPO G6PD GPI HBA2

MGI Mouse Phenotypes related to Congenital Hemolytic Anemia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.24 ADA ATP11C EPO G6PD GPI HCLS1
2 homeostasis/metabolism MP:0005376 10.17 ADA ATP11C EPO G6PD GPI HP
3 immune system MP:0005387 10.07 ADA ATP11C EPO GPI HCLS1 HP
4 mortality/aging MP:0010768 9.8 ADA EPO G6PD GPI HBA2 HP
5 liver/biliary system MP:0005370 9.7 ADA EPO GPI HP KLF1 SPTA1
6 normal MP:0002873 9.23 ADA ATP11C EPO HBE1 PIEZO1 PKLR
Sources

Drugs & Therapeutics for Congenital Hemolytic Anemia

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

(show all 17)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 46835353 6436030 5284616
2
Everolimus Approved Phase 1, Phase 2 159351-69-6 6442177
3
alemtuzumab Approved, Investigational Phase 1, Phase 2 216503-57-0
4
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
5
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
6
Memantine Approved, Investigational Phase 2 19982-08-2 4054
7 Antibiotics, Antitubercular Phase 1, Phase 2
8 Antifungal Agents Phase 1, Phase 2
9 Anti-Infective Agents Phase 1, Phase 2
10 Immunologic Factors Phase 1, Phase 2
11 Immunosuppressive Agents Phase 1, Phase 2
12 Anti-Bacterial Agents Phase 1, Phase 2
13 Excitatory Amino Acids Phase 2
14 Antiparkinson Agents Phase 2
15 Excitatory Amino Acid Antagonists Phase 2
16 Neurotransmitter Agents Phase 2
17 Dopamine Agents Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Clinical Trial to Study the Safety and Tolerability of Memantin Mepha® in Sickle Cell Disease Patients Completed NCT02615847 Phase 2 Memantinhydrochlorid
2 Improving the Results of Bone Marrow Transplantation for Patients With Severe Congenital Anemias Recruiting NCT00061568 Phase 1, Phase 2 Alemtuzumab;Sirolimus
3 A Phase - IIa - IIb, Trial to Study the Safety, Tolerability and Efficacy of Memantine as a Long-term Treatment of SCD Not yet recruiting NCT03247218 Phase 2 Memantine Hydrochloride
4 Evaluation of the AMICUS RBCx System in Sickle Cell Patients Completed NCT02372877 Not Applicable
5 The Dallas Hereditary Spherocytosis Cohort Study Terminated NCT01141621

Search NIH Clinical Center for Congenital Hemolytic Anemia

Cochrane evidence based reviews: anemia, hemolytic, congenital

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Genetic Tests for Congenital Hemolytic Anemia

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Anatomical Context for Congenital Hemolytic Anemia

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MalaCards organs/tissues related to Congenital Hemolytic Anemia:

41
Bone, Bone Marrow, Spleen, Liver
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Publications for Congenital Hemolytic Anemia

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Articles related to Congenital Hemolytic Anemia:

(show top 50) (show all 86)
# Title Authors Year
1
Whole-exome analysis to detect congenital hemolytic anemia mimicking congenital dyserythropoietic anemia. ( 29936674 )
2018
2
Congenital Hemolytic Anemia. ( 28189176 )
2017
3
Coinheritance of Hb Bristol-Alesha [I^67(E11)Vala89Met; HBB: c.202G>A] and the I+212 Patchwork Allele in a Brazilian Child with Severe Congenital Hemolytic Anemia. ( 28670945 )
2017
4
Hematologic outcomes after total splenectomy and partial splenectomy for congenital hemolytic anemia. ( 26613837 )
2016
5
Genetic diagnosis for congenital hemolytic anemia. ( 27725587 )
2016
6
Acquired and Congenital Hemolytic Anemia. ( 27252179 )
2016
7
ATP11C is a major flippase in human erythrocytes and its defect causes congenital hemolytic anemia. ( 26944472 )
2016
8
Pyruvate kinase deficiency and severe congenital hemolytic anemia in a double heterozygous patient with paternal transmission of an early germ-line de novo mutation. ( 26315463 )
2015
9
Clinical Outcomes of Splenectomy in Children: Report of the Splenectomy in Congenital Hemolytic Anemia (SICHA) Registry. ( 25382665 )
2014
10
Post-transfusion hypertension and seizure in congenital hemolytic anemia: a case report and literature review. ( 24473404 )
2014
11
Congenital dyserythropoietic anemia type 1 with a novel mutation in the CDAN1 gene previously diagnosed as congenital hemolytic anemia. ( 23605369 )
2013
12
Hemoglobin J--as a cause of congenital hemolytic anemia. ( 21390522 )
2011
13
[Congenital hemolytic anemia due to glucose-6-phosphate dehydrogenase deficiency]. ( 20099666 )
2009
14
Transient pure red blood cell aplasia as clinical presentation of congenital hemolytic anemia: a case report. ( 19829866 )
2009
15
Partial splenectomy for children with congenital hemolytic anemia and massive splenomegaly. ( 18358283 )
2008
16
Vasoconstrictor-induced hypertension following multiple blood transfusions in children with congenital hemolytic anemia. ( 19377226 )
2008
17
Hereditary pyropoikilocytosis: a rare but potentially severe form of congenital hemolytic anemia. ( 17279012 )
2007
18
[Congenital hemolytic anemia]. ( 15773339 )
2005
19
Hemoglobinopathies and other congenital hemolytic anemia. ( 15567909 )
2004
20
Congenital hemolytic anemia in Bangladesh: types and clinical manifestations. ( 12084953 )
2002
21
Triosephosphate isomerase deficiency in a child with congenital hemolytic anemia and severe hypotonia. ( 9842650 )
1998
22
Unstable hemoglobin as a cause of congenital hemolytic anemia. ( 8979570 )
1996
23
Clinical features and splenic pathologic changes in patients with autoimmune hemolytic anemia and congenital hemolytic anemia. ( 8331977 )
1993
24
Possible congenital hemolytic anemia in prehistoric coastal inhabitants of Israel. ( 1853944 )
1991
25
Transplantation studies in mice with congenital hemolytic anemia. ( 2340652 )
1990
26
Erythropheresis in four cases of congenital hemolytic anemia (CHA). ( 2353021 )
1990
27
[Iron overload in congenital hemolytic anemia caused by pyruvate kinase deficiency. A major late complication]. ( 2141411 )
1990
28
Erythrocyte pyruvate kinase deficiency. A case of severe congenital hemolytic anemia. ( 2761512 )
1989
29
Clinicopathologic features of young and old sphha/sphha mice. Mutants with congenital hemolytic anemia. ( 3414779 )
1988
30
Adenosine deaminase (ADA) overproduction associated with congenital hemolytic anemia: case report and molecular analysis. ( 3164080 )
1988
31
A new glucose-6-phosphate dehydrogenase variant (G6PD Tsukui) associated with congenital hemolytic anemia. ( 3360447 )
1988
32
Congenital hemolytic anemia with Heinz bodies due to unstable hemoglobin. First report in Mexico. ( 3842916 )
1985
33
Altered spectrin association and membrane fragility without abnormal spectrin heat sensitivity in a case of congenital hemolytic anemia. ( 4025321 )
1985
34
Two cases of phosphofructokinase deficiency associated with congenital hemolytic anemia found in Japan. ( 6220601 )
1983
35
G6PD Sendagi: a new glucose-6-phosphate dehydrogenase variant associated with congenital hemolytic anemia. ( 6654337 )
1983
36
The Japanese family of congenital hemolytic anemia with high red cell membrane phosphatidyl choline and increased sodium transport. ( 7136463 )
1982
37
Pyruvate kinase "GAPttingen 1,2": congenital hemolytic anemia, evidence of double heterozygosity, and lack of enzyme cooperativity. ( 7106777 )
1982
38
A new glucose-6-phosphate dehydrogenase variant (G6PD Nagano) associated with congenital hemolytic anemia. ( 7166314 )
1982
39
Long-term survival and reversal of iron overload after marrow transplantation in dogs with congenital hemolytic anemia. ( 6778539 )
1981
40
Successful long-term phenobarbital therapy of hyperbilirubinemia in congenital hemolytic anemia due to glucose phosphate isomerase deficiency. ( 7449787 )
1980
41
Abnormal red cell membrane phosphatase activity in an unidentified congenital hemolytic anemia. ( 224968 )
1979
42
Congenital hemolytic anemia due to hexokinase deficiency. ( 655151 )
1978
43
Red cell calcium leak in congenital hemolytic anemia with extreme microcytosis. ( 1244919 )
1976
44
Congenital hemolytic anemia associated with dehydrated erythrocytes and increased potassium loss. ( 4851153 )
1974
45
Letter: Congenital hemolytic anemia with potassium loss. ( 4427630 )
1974
46
Animal model of human disease. Congenital hemolytic anemia. ( 4715956 )
1973
47
Congenital hemolytic anemia in the Basenji dog due to erythrocyte pyruvate kinase deficiency. ( 4251418 )
1971
48
Nonspherocytic congenital hemolytic anemia due to a new G-6-pd variant: g-6-pd alhambra. ( 5413384 )
1970
49
Congenital hemolytic anemia with high-sodium, low-potassium red cells. Studies of three generations of a family with a new variant. ( 4237839 )
1969
50
Functionally abnormal pyruvate kinase in congenital hemolytic anemia. ( 5388241 )
1969
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Variations for Congenital Hemolytic Anemia

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ClinVar genetic disease variations for Congenital Hemolytic Anemia:

6 (show all 24)
# Gene Variation Type Significance SNP ID Assembly Location
1 SPTA1 NM_003126.3(SPTA1): c.6672A> C (p.Glu2224Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs142775522 GRCh37 Chromosome 1, 158585122: 158585122
2 SPTA1 NM_003126.3(SPTA1): c.6672A> C (p.Glu2224Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs142775522 GRCh38 Chromosome 1, 158615332: 158615332
3 SPTA1 NM_003126.3(SPTA1): c.6600+5G> T single nucleotide variant Likely pathogenic GRCh37 Chromosome 1, 158587322: 158587322
4 SPTA1 NM_003126.3(SPTA1): c.6600+5G> T single nucleotide variant Likely pathogenic GRCh38 Chromosome 1, 158617532: 158617532
5 SPTA1 NM_003126.3(SPTA1): c.3291G> A (p.Trp1097Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 158652551: 158652551
6 SPTA1 NM_003126.3(SPTA1): c.3291G> A (p.Trp1097Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 158622341: 158622341
7 SPTA1 NM_003126.3(SPTA1): c.1688G> A (p.Arg563Gln) single nucleotide variant Uncertain significance rs202243588 GRCh38 Chromosome 1, 158669553: 158669553
8 SPTA1 NM_003126.3(SPTA1): c.1688G> A (p.Arg563Gln) single nucleotide variant Uncertain significance rs202243588 GRCh37 Chromosome 1, 158639343: 158639343
9 CD46 NM_172359.2(CD46): c.402T> G (p.Ile134Met) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 207759651: 207759651
10 CD46 NM_172359.2(CD46): c.402T> G (p.Ile134Met) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 207932996: 207932996
11 ABCG8 NM_022437.2(ABCG8): c.-27G> A single nucleotide variant Uncertain significance rs779984848 GRCh37 Chromosome 2, 44066166: 44066166
12 ABCG8 NM_022437.2(ABCG8): c.-27G> A single nucleotide variant Uncertain significance rs779984848 GRCh38 Chromosome 2, 43839027: 43839027
13 SPTB NM_001024858.3(SPTB): c.6737C> T (p.Ala2246Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 14, 65216738: 65216738
14 SPTB NM_001024858.3(SPTB): c.6737C> T (p.Ala2246Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 14, 64750020: 64750020
15 SPTB NM_001024858.3(SPTB): c.6706C> A (p.Leu2236Met) single nucleotide variant Uncertain significance GRCh37 Chromosome 14, 65216769: 65216769
16 SPTB NM_001024858.3(SPTB): c.6706C> A (p.Leu2236Met) single nucleotide variant Uncertain significance GRCh38 Chromosome 14, 64750051: 64750051
17 SPTB NM_001024858.3(SPTB): c.6271C> A (p.Pro2091Thr) single nucleotide variant Likely benign rs372733273 GRCh37 Chromosome 14, 65233518: 65233518
18 SPTB NM_001024858.3(SPTB): c.6271C> A (p.Pro2091Thr) single nucleotide variant Likely benign rs372733273 GRCh38 Chromosome 14, 64766800: 64766800
19 PIEZO1 NM_001142864.4(PIEZO1): c.1126C> G (p.Pro376Ala) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 88737628: 88737628
20 PIEZO1 NM_001142864.4(PIEZO1): c.1126C> G (p.Pro376Ala) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 88804036: 88804036
21 C3 NM_000064.3(C3): c.1921G> A (p.Asp641Asn) single nucleotide variant Uncertain significance GRCh38 Chromosome 19, 6707854: 6707854
22 C3 NM_000064.3(C3): c.1921G> A (p.Asp641Asn) single nucleotide variant Uncertain significance GRCh37 Chromosome 19, 6707865: 6707865
23 G6PD NM_001042351.2(G6PD): c.448G> A (p.Val150Ile) single nucleotide variant Likely pathogenic GRCh38 Chromosome X, 154535205: 154535205
24 G6PD NM_001042351.2(G6PD): c.448G> A (p.Val150Ile) single nucleotide variant Likely pathogenic GRCh37 Chromosome X, 153763420: 153763420
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Expression for Congenital Hemolytic Anemia

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

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

# Super pathways Score Top Affiliating Genes
1
Carbon metabolism 37
Show member pathways
 11.95 G6PD GPI PKLR TPI1
2
Binding and Uptake of Ligands by Scavenger Receptors 66
Show member pathways
 11.56 HBA2 HBB HP
3
Differentiation Pathway 1
11.01 EPO IL3 TF
4
Hematopoietic Stem Cell Differentiation 1
10.81 EPO IL3 KLF1
5
Pentose Phosphate Pathway (Erythrocyte), Pharmacodynamics 61
10.03 G6PD GPI
6
Cori Cycle 1
10 G6PD GPI TPI1
Sources

GO Terms for Congenital Hemolytic Anemia

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

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.97 ADA EPO GPI HBA2 HBB HP
2 blood microparticle GO:0072562 9.55 HBA2 HBB HBE1 HP TF
3 spectrin GO:0008091 9.46 SPTA1 SPTB
4 spectrin-associated cytoskeleton GO:0014731 9.43 SPTA1 SPTB
5 endocytic vesicle lumen GO:0071682 9.43 HBA2 HBB HP
6 intrinsic component of the cytoplasmic side of the plasma membrane GO:0031235 9.37 SPTA1 SPTB
7 hemoglobin complex GO:0005833 9.26 HBA2 HBB HBE1 HBG1
8 haptoglobin-hemoglobin complex GO:0031838 9.02 HBA2 HBB HBE1 HBG1 HP
9 cytosol GO:0005829 10.22 ADA G6PD GPI HBA2 HBB HBE1
10 extracellular exosome GO:0070062 10.08 G6PD GPI HBA2 HBB HP PKLR

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.65 EPO HCLS1 IL3
2 positive regulation of cell death GO:0010942 9.63 HBA2 HBB HP
3 protein heterooligomerization GO:0051291 9.62 HBA2 HBB HBE1 HBG1
4 erythrocyte differentiation GO:0030218 9.61 EPO HCLS1 KLF1
5 glycolytic process GO:0006096 9.58 GPI PKLR TPI1
6 response to hydrogen peroxide GO:0042542 9.56 ADA HBA2 HBB HP
7 canonical glycolysis GO:0061621 9.54 GPI PKLR TPI1
8 actin filament capping GO:0051693 9.52 SPTA1 SPTB
9 erythrocyte maturation GO:0043249 9.51 EPO G6PD
10 glucose 6-phosphate metabolic process GO:0051156 9.49 G6PD GPI
11 hydrogen peroxide catabolic process GO:0042744 9.46 HBA2 HBB HBE1 HBG1
12 cellular oxidant detoxification GO:0098869 9.35 HBA2 HBB HBE1 HBG1 HP
13 oxygen transport GO:0015671 8.92 HBA2 HBB HBE1 HBG1

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 heme binding GO:0020037 9.71 HBA2 HBB HBE1 HBG1
2 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.65 IL3 SPTA1 SPTB
3 oxygen binding GO:0019825 9.62 HBA2 HBB HBE1 HBG1
4 peroxidase activity GO:0004601 9.56 HBA2 HBB HBE1 HBG1
5 oxygen carrier activity GO:0005344 9.46 HBA2 HBB HBE1 HBG1
6 hemoglobin binding GO:0030492 9.43 HBB HP
7 hemoglobin alpha binding GO:0031721 9.37 HBB HBE1
8 organic acid binding GO:0043177 9.26 HBA2 HBB HBE1 HBG1
9 haptoglobin binding GO:0031720 8.92 HBA2 HBB HBE1 HBG1
10 protein binding GO:0005515 10.4 ADA ATP11C EPO G6PD HBA2 HBB
11 metal ion binding GO:0046872 10.2 ADA ATP11C HBA2 HBB HBE1 HBG1
Sources

Sources for Congenital Hemolytic Anemia

About this section
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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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