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MCID: CNG027
MIFTS: 48

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 75 53 6 15
Anemia, Hemolytic, Congenital 44 72
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
ICD9CM 35 282 282.9
MeSH 44 D000745
NCIt 50 C34379
SNOMED-CT 68 38911009 42601008
ICD10 33 D58.8 D58.9
UMLS 72 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 pyropoikilocytosis, hereditary and pyruvate kinase deficiency of red cells. An important gene associated with Congenital Hemolytic Anemia is SPTA1 (Spectrin Alpha, Erythrocytic 1), and among its related pathways/superpathways are Vesicle-mediated transport and Carbon metabolism. The drugs Tacrolimus and Methotrexate have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and spleen, and related phenotypes are no effect and hematopoietic system

Wikipedia : 75 Congenital hemolytic anemia refers to hemolytic anemia which is primarily due to congenital... 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
Rare Acquired Hemolytic Anemia Hemolytic Anemia Due to Erythrocyte Adenosine Deaminase Overproduction
Hemolytic Anemia Due to an Erythrocyte Nucleotide Metabolism Disorder Hemolytic Anemia Due to a Disorder of Glycolytic Enzymes
Hemolytic Anemia Due to Hexose Monophosphate Shunt and Glutathione Metabolism Anomalies Rare Hemolytic Anemia

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

(show top 50) (show all 147)
# Related Disease Score Top Affiliating Genes
1 pyropoikilocytosis, hereditary 31.3 SPTB SPTA1
2 pyruvate kinase deficiency of red cells 31.3 PKLR G6PD
3 glucosephosphate isomerase deficiency 30.9 GPI G6PD
4 deficiency anemia 30.7 TF HP HBB HBA2 G6PD EPO
5 hydrops fetalis 30.7 PIEZO1 HBA2
6 glucosephosphate dehydrogenase deficiency 30.7 HP HBB G6PD
7 neonatal jaundice 30.4 SPTA1 PKLR G6PD
8 hereditary elliptocytosis 30.4 SPTB SPTA1 ANK1
9 erythroleukemia, familial 30.4 HBG1 HBB EPO
10 anemia, nonspherocytic hemolytic, due to g6pd deficiency 30.3 HP G6PD
11 congenital nonspherocytic hemolytic anemia 30.2 PKLR GPI G6PD
12 sickle cell anemia 29.9 HBG1 HBB HBA2 G6PD EPO
13 hereditary spherocytosis 29.9 SPTB SPTA1 SEC23B PKLR HBG1 HBE1
14 hemoglobin e disease 29.3 HBE1 HBD HBB
15 sickle cell disease 29.0 HBG1 HBD HBB HBA2 G6PD EPO
16 alpha-thalassemia 28.6 HP HBG1 HBE1 HBB HBA2 G6PD
17 thalassemia 28.6 TF HBG1 HBE1 HBD HBB HBA2
18 hemolytic anemia 28.1 TPI1 SPTB SPTA1 PKLR PIEZO1 HP
19 hemoglobinopathy 27.7 TF HP HBG1 HBE1 HBD HBB
20 beta-thalassemia 27.6 TF SPTB HBG1 HBE1 HBD HBB
21 triosephosphate isomerase deficiency 11.7
22 glycogen storage disease xii 11.6
23 congenital dyserythropoietic anemia 11.6
24 pseudohyperkalemia, familial, 2, due to red cell leak 11.3
25 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome 10.6 HBG1 HBB
26 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome 10.6 HBG1 HBB
27 hemoglobin zurich 10.6 HBB HBA2
28 methemoglobinemia, beta-globin type 10.6 HBB HBA2
29 splenic infarction 10.6 PIEZO1 HBB
30 immune hydrops fetalis 10.6 PIEZO1 HBA2
31 glutathione peroxidase deficiency 10.6 HBB HBA2
32 hemoglobinemia 10.6 HP HBB
33 heinz body anemias 10.5 HBB HBA2
34 acquired polycythemia 10.5 TF EPO
35 miliary tuberculosis 10.5 EPO ADA
36 spherocytosis, type 3 10.5 SPTA1 HBB
37 folic acid deficiency anemia 10.5 TF EPO
38 chronic inflammatory demyelinating polyneuropathy 10.4 TF HP
39 blackwater fever 10.4 HP G6PD
40 acquired methemoglobinemia 10.4 G6PD CYB5R3
41 hypochromic microcytic anemia 10.4 TF HBB HBA2
42 congenital methemoglobinemia 10.4 G6PD CYB5R3
43 melancholia 10.4 TF HP
44 vaginal discharge 10.4 SPTB HP
45 microcytic anemia 10.3 TF HBA2 EPO
46 neonatal anemia 10.3 HBG1 HBA2 EPO
47 plasmodium falciparum malaria 10.3 HP HBB G6PD
48 cholelithiasis 10.3
49 iron overload in africa 10.3 TF HP HBB
50 splenic disease 10.3 HBB EPO

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 no effect GR00402-S-1 9.92 ADA ANK1 ATP11C CYB5R3 EPO G6PD

MGI Mouse Phenotypes related to Congenital Hemolytic Anemia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.21 ADA ANK1 ATP11C EPO G6PD GPI
2 homeostasis/metabolism MP:0005376 10.17 ADA ANK1 ATP11C EPO G6PD GPI
3 cardiovascular system MP:0005385 10.06 ADA ANK1 EPO G6PD GPI HP
4 immune system MP:0005387 10.03 ADA ANK1 ATP11C EPO GPI HP
5 mortality/aging MP:0010768 9.8 ADA ANK1 EPO G6PD GPI HBA2
6 liver/biliary system MP:0005370 9.7 ADA ANK1 EPO GPI HP SPTA1
7 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 30)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492 6473866
2
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
3
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
4
Busulfan Approved, Investigational Phase 2 55-98-1 2478
5
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 6436030 5284616 46835353
6
alemtuzumab Approved, Investigational Phase 1, Phase 2 216503-57-0
7
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
8
Everolimus Approved Phase 1, Phase 2 159351-69-6 6442177 70789204
9
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
10
Memantine Approved, Investigational Phase 2 19982-08-2 4054
11 Thymoglobulin Phase 2
12 Antilymphocyte Serum Phase 2
13 Cyclosporins Phase 2
14 Calcineurin Inhibitors Phase 2
15 Antifungal Agents Phase 1, Phase 2
16 Anti-Infective Agents Phase 1, Phase 2
17 Anti-Bacterial Agents Phase 1, Phase 2
18 Immunologic Factors Phase 1, Phase 2
19 Antibiotics, Antitubercular Phase 1, Phase 2
20 Immunosuppressive Agents Phase 1, Phase 2
21 Antineoplastic Agents, Immunological Phase 1, Phase 2
22 Neurotransmitter Agents Phase 2
23 Dopamine Agents Phase 2
24 Antiparkinson Agents Phase 2
25 Excitatory Amino Acid Antagonists Phase 2
26 Excitatory Amino Acids Phase 2
27
Carbon monoxide Approved, Investigational Phase 1 630-08-0 281
28 Antimetabolites Phase 1
29 Pharmaceutical Solutions
30 pyruvate

Interventional clinical trials:

(show all 15)
# 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 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 Recruiting NCT03548220 Phase 3 AG-348;Placebo
4 A Phase II Study of Hematopoietic Stem Cell Therapy for Young Adults With Severe Sickle Cell Disease Completed NCT01565616 Phase 2 Conditioning Regimen with Bone Marrow Transplant
5 A Phase II, Open Label, Single Center Trial to Study the Safety and Tolerability of Memantin Mepha® as Supportive Long Term Treatment in Symptomatic Sickle Cell Disease Completed NCT02615847 Phase 2 Memantinhydrochlorid
6 Nonmyeloablative Allogeneic Peripheral Blood Mobilized Hematopoietic Precursor Cell Transplantation For Severe Congenital Anemias Including Sickle Cell Disease (SCD) and Beta-Thalassemia Recruiting NCT00061568 Phase 1, Phase 2 Alemtuzumab;Sirolimus
7 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
8 A Phase - IIa - IIb, Open Label, Single Center Trial to Study the Safety, Tolerability and Efficacy of Memantine Teva® as Supportive Long-term Treatment in Symptomatic Sickle Cell Disease Not yet recruiting NCT03247218 Phase 2 Memantine Hydrochloride
9 A Phase 1 Open Labeled Single Ascending Dose Followed by Multiple Ascending Dose Safety and Pharmacokinetic Study of HBI-002 Carbon Monoxide Oral Liquid Drug Product in Healthy Adult Volunteers. Not yet recruiting NCT03926819 Phase 1 HBI-002
10 Evaluation of the AMICUS Red Blood Cell Exchange (RBCx) System in Sickle Cell Patients Completed NCT02372877
11 Pyruvate Kinase Deficiency Global Longitudinal Registry Recruiting NCT03481738
12 Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy Recruiting NCT02635269
13 Pyruvate Kinase Deficiency (PKD) Natural History Study Active, not recruiting NCT02053480
14 Pyruvate Kinase Deficiency Epidemiological Study. An International, Multicentre, Epidemiological Observational Study Not yet recruiting NCT03866590
15 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, Heart, Lung, Kidney
Sources

Publications for Congenital Hemolytic Anemia

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Articles related to Congenital Hemolytic Anemia:

(show top 50) (show all 285)
# Title Authors PMID Year
1
[Congenital hemolytic anemia due to glucose-6-phosphate dehydrogenase deficiency]. 9 38
20099666 2009
2
Erythropoietin and iron-restricted erythropoiesis. 9 38
17379103 2007
3
Combined glucose-6-phosphate dehydrogenase and glucosephosphate isomerase deficiency can alter clinical outcome. 9 38
12737943 2003
4
Triosephosphate isomerase deficiency in a child with congenital hemolytic anemia and severe hypotonia. 9 38
9842650 1998
5
Molecular characterization of PK-LR gene in pyruvate kinase-deficient Italian patients. 9 38
9160692 1997
6
Capillary electrophoresis and mutational images of hemoglobin sendagi [Β42 (CD1) PHE → VAL; HBB: C.127T→G]. 38
31299317 2019
7
A previously unrecognized Ankyrin-1 mutation associated with Hereditary Spherocytosis in an Italian family. 38
31400153 2019
8
ATP11C T418N, a gene mutation causing congenital hemolytic anemia, reduces flippase activity due to improper membrane trafficking. 38
31253392 2019
9
Congenital Hemolytic Anemia Because of Glucose Phosphate Isomerase Deficiency: Identification of 2 Novel Missense Mutations in the GPI Gene. 38
31415279 2019
10
Aberrant splicing contributes to severe α-spectrin-linked congenital hemolytic anemia. 38
31038472 2019
11
Identification and functional analyses of disease-associated P4-ATPase phospholipid flippase variants in red blood cells. 38
30850395 2019
12
Severe congenital hemolytic anemia caused by a novel compound heterozygous PKLR gene mutation in a Chinese boy. 38
30628965 2019
13
Whole-exome sequencing for the genetic diagnosis of congenital red blood cell membrane disorders in Taiwan. 38
30317022 2018
14
Thalassemia major phenotype caused by HB Zürich-Albisrieden [α2 59(E8) Gly > Arg (HBA2:C.178G > C)] in a Brazilian child. 38
30151892 2018
15
A Case With Pyruvate Kinase Deficiency Remarkably Sensitive to Heat. 38
29309376 2018
16
Whole-exome analysis to detect congenital hemolytic anemia mimicking congenital dyserythropoietic anemia. 38
29936674 2018
17
Lung masses in a thalassemia patient: A diagnostic dilemma. 38
31435353 2018
18
Exome sequencing confirms molecular diagnoses in 38 Chinese families with hereditary spherocytosis. 38
29572776 2018
19
Utility of mean sphered cell volume and mean reticulocyte volume for the diagnosis of hereditary spherocytosis. 38
29338606 2018
20
Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study. 38
29549173 2018
21
[Using target next-generation sequencing assay in diagnosing of 46 patients with suspected congenital anemias]. 38
29779353 2018
22
A Case Report of Congenital Non-spherocytic Hemolytic Anemia in a Patient from India. 38
29904619 2018
23
An Infant With Unusually High Unconjugated Hyperbilirubinemia Due to Coexistence of Hereditary Spherocytosis and Gilbert Syndrome. 38
29200157 2018
24
Hereditary spherocytosis: Retrospective evaluation of 65 children. 38
30511538 2018
25
An ANK1 IVS3-2A>C mutation causes exon 4 skipping in two patients from a Chinese family with hereditary spherocytosis. 38
29348906 2017
26
Novel mechanisms of PIEZO1 dysfunction in hereditary xerocytosis. 38
28716860 2017
27
Oral tetrahydrouridine and decitabine for non-cytotoxic epigenetic gene regulation in sickle cell disease: A randomized phase 1 study. 38
28880867 2017
28
Coinheritance of Hb Bristol-Alesha [β67(E11)Val→Met; HBB: c.202G>A] and the α212 Patchwork Allele in a Brazilian Child with Severe Congenital Hemolytic Anemia. 38
28670945 2017
29
Next-generation sequencing unravels homozygous mutation in glucose-6-phosphate isomerase, GPIc.1040G>A (p.Arg347His) causing hemolysis in an Indian infant. 38
28223188 2017
30
Congenital Hemolytic Anemia. 38
28189176 2017
31
Hereditary Spherocytosis - Diagnosis, Surgical Treatment and Outcomes. A Literature Review. 38
28463670 2017
32
Diagnostic Dilemma of Hb Perth [β32(B14)Leu→Pro; HBB: c.98T > C] in Mainland China. 38
27117570 2016
33
Acquired and Congenital Hemolytic Anemia. 38
27252179 2016
34
ATP11C is a major flippase in human erythrocytes and its defect causes congenital hemolytic anemia. 38
26944472 2016
35
Positive predictive value of diagnosis coding for hemolytic anemias in the Danish National Patient Register. 38
27445504 2016
36
Genetic diagnosis for congenital hemolytic anemia. 38
27725587 2016
37
Quantification of Dihydroxyacetone Phosphate (DHAP) in Human Red Blood Cells by HPLC-TripleTOF 5600â„¢ Mass Spectrometer. 38
26602120 2016
38
Hematologic outcomes after total splenectomy and partial splenectomy for congenital hemolytic anemia. 38
26613837 2016
39
Pyruvate kinase deficiency and severe congenital hemolytic anemia in a double heterozygous patient with paternal transmission of an early germ-line de novo mutation. 38
26315463 2015
40
Detection of red blood cell antibodies in mitogen-stimulated cultures from patients with hereditary spherocytosis. 38
26259504 2015
41
Novel Gardos channel mutations linked to dehydrated hereditary stomatocytosis (xerocytosis). 38
26178367 2015
42
Hereditary Spherocytosis with Splenomegaly and Cholelithiasis in a Young Male of Western Region of Nepal - A Case Report. 38
27423290 2015
43
[Glucose-6-phosphate dehydrogenase deficiency in Japan]. 38
26251139 2015
44
Clinical outcomes of splenectomy in children: report of the splenectomy in congenital hemolytic anemia registry. 38
25382665 2015
45
Occurrence of Wilms' tumor in a child with hereditary spherocytosis. 38
26690609 2015
46
Bacterial Infections Following Splenectomy for Malignant and Nonmalignant Hematologic Diseases. 38
26543526 2015
47
Post-transfusion hypertension and seizure in congenital hemolytic anemia: a case report and literature review. 38
24473404 2014
48
[Video-assisted thoracoscopic surgery for intrathoracic extramedullary hematopoiesis]. 38
24917163 2014
49
Hb Grand Junction (HBB: c.348_349delinsG; p.His117IlefsX42): a new hyperunstable hemoglobin variant. 38
24432801 2014
50
Congenital dyserythropoietic anemia type 1 with a novel mutation in the CDAN1 gene previously diagnosed as congenital hemolytic anemia. 38
23605369 2013
Sources

Variations for Congenital Hemolytic Anemia

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ClinVar genetic disease variations for Congenital Hemolytic Anemia:

6 (show all 12)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SPTA1 NM_003126.4(SPTA1): c.3291G> A (p.Trp1097Ter) single nucleotide variant Pathogenic rs1553231217 1:158622341-158622341 1:158652551-158652551
2 G6PD NM_000402.4(G6PD): c.538G> A (p.Val180Ile) single nucleotide variant Likely pathogenic rs1557230573 X:153763420-153763420 X:154535205-154535205
3 SPTA1 NM_003126.4(SPTA1): c.6600+5G> T single nucleotide variant Likely pathogenic rs1462060431 1:158587322-158587322 1:158617532-158617532
4 SPTA1 NM_003126.4(SPTA1): c.6672A> C (p.Glu2224Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs142775522 1:158585122-158585122 1:158615332-158615332
5 PIEZO1 NM_001142864.4(PIEZO1): c.1126C> G (p.Pro376Ala) single nucleotide variant Uncertain significance rs1474972037 16:88804036-88804036 16:88737628-88737628
6 C3 NM_000064.4(C3): c.1921G> A (p.Asp641Asn) single nucleotide variant Uncertain significance rs1348311492 19:6707865-6707865 19:6707854-6707854
7 SPTA1 NM_003126.4(SPTA1): c.1688G> A (p.Arg563Gln) single nucleotide variant Uncertain significance rs202243588 1:158639343-158639343 1:158669553-158669553
8 CD46 NM_002389.4(CD46): c.402T> G (p.Ile134Met) single nucleotide variant Uncertain significance rs1553250568 1:207932996-207932996 1:207759651-207759651
9 ABCG8 NM_022437.3(ABCG8): c.-27G> A single nucleotide variant Uncertain significance rs779984848 2:44066166-44066166 2:43839027-43839027
10 SPTB NM_001355436.2(SPTB): c.6737C> T (p.Ala2246Val) single nucleotide variant Uncertain significance rs1555364743 14:65216738-65216738 14:64750020-64750020
11 SPTB NM_001355436.2(SPTB): c.6706C> A (p.Leu2236Met) single nucleotide variant Uncertain significance rs1555364746 14:65216769-65216769 14:64750051-64750051
12 SPTB NM_001355436.2(SPTB): c.6271C> A (p.Pro2091Thr) single nucleotide variant Likely benign rs372733273 14:65233518-65233518 14:64766800-64766800
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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
Vesicle-mediated transport 66
Show member pathways
 13.05 TF SPTB SPTA1 HP HBB HBA2
2
Carbon metabolism 37
Show member pathways
 11.95 TPI1 PKLR GPI G6PD
3
Factors involved in megakaryocyte development and platelet production 66
11.75 HBG1 HBE1 HBD HBB
4
L1CAM interactions 66
Show member pathways
 11.73 SPTB SPTA1 ANK1
5
Binding and Uptake of Ligands by Scavenger Receptors 66
Show member pathways
 11.63 HP HBB HBA2
6
Interaction between L1 and Ankyrins 66
10.61 SPTB SPTA1 ANK1
7
Pentose Phosphate Pathway (Erythrocyte), Pharmacodynamics 61
Show member pathways
 10.32 GPI G6PD
8
Cori Cycle 1
10 TPI1 GPI G6PD
9
Methylene Blue Pathway, Pharmacodynamics 61
9.76 G6PD CYB5R3
Sources

GO Terms for Congenital Hemolytic Anemia

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 blood microparticle GO:0072562 9.63 TF HP HBE1 HBD HBB HBA2
2 cytoplasmic side of plasma membrane GO:0009898 9.58 SPTA1 G6PD ANK1
3 endocytic vesicle lumen GO:0071682 9.5 HP HBB HBA2
4 spectrin GO:0008091 9.46 SPTB SPTA1
5 intrinsic component of the cytoplasmic side of the plasma membrane GO:0031235 9.43 SPTB SPTA1
6 spectrin-associated cytoskeleton GO:0014731 9.43 SPTB SPTA1 ANK1
7 hemoglobin complex GO:0005833 9.43 HBG1 HBE1 HBD HBB HBA2 CYB5R3
8 haptoglobin-hemoglobin complex GO:0031838 9.1 HP HBG1 HBE1 HBD HBB HBA2
9 cytosol GO:0005829 10.21 TPI1 SPTB SPTA1 SEC23B PKLR HBG1
10 extracellular exosome GO:0070062 10.1 TPI1 TF PKLR HP HBB HBA2
11 extracellular space GO:0005615 10.08 TPI1 TF HP HBB HBA2 GPI

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 ER to Golgi vesicle-mediated transport GO:0006888 9.78 SPTB SPTA1 SEC23B ANK1
2 blood coagulation GO:0007596 9.76 HBG1 HBE1 HBD HBB
3 cellular oxidant detoxification GO:0098869 9.63 HP HBG1 HBE1 HBD HBB HBA2
4 response to hydrogen peroxide GO:0042542 9.62 HP HBB HBA2 ADA
5 positive regulation of cell death GO:0010942 9.61 HP HBB HBA2
6 glycolytic process GO:0006096 9.58 TPI1 PKLR GPI
7 canonical glycolysis GO:0061621 9.54 TPI1 PKLR GPI
8 actin filament capping GO:0051693 9.52 SPTB SPTA1
9 erythrocyte maturation GO:0043249 9.51 G6PD EPO
10 glucose 6-phosphate metabolic process GO:0051156 9.49 GPI G6PD
11 protein heterooligomerization GO:0051291 9.43 HBE1 HBB HBA2
12 hydrogen peroxide catabolic process GO:0042744 9.35 HBG1 HBE1 HBD HBB HBA2
13 oxygen transport GO:0015671 9.02 HBG1 HBE1 HBD HBB HBA2

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 9.8 HBG1 HBE1 HBD HBB HBA2
2 oxygen binding GO:0019825 9.72 HBG1 HBE1 HBD HBB HBA2
3 structural constituent of cytoskeleton GO:0005200 9.67 SPTB SPTA1 ANK1
4 peroxidase activity GO:0004601 9.65 HBG1 HBE1 HBD HBB HBA2
5 oxygen carrier activity GO:0005344 9.55 HBG1 HBE1 HBD HBB HBA2
6 hemoglobin alpha binding GO:0031721 9.54 HBE1 HBD HBB
7 hemoglobin binding GO:0030492 9.43 HP HBB
8 organic acid binding GO:0043177 9.35 HBG1 HBE1 HBD HBB HBA2
9 haptoglobin binding GO:0031720 9.02 HBG1 HBE1 HBD HBB HBA2
10 protein binding GO:0005515 10.36 TPI1 TF SPTB SPTA1 SEC23B HP
11 metal ion binding GO:0046872 10.22 TF SPTA1 SEC23B PKLR HBG1 HBE1
Sources

Sources for Congenital Hemolytic Anemia

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 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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