MCID: CNG027
MIFTS: 48

Congenital Hemolytic Anemia

Categories: Blood diseases, Fetal diseases, Genetic diseases, Immune diseases, Metabolic diseases, Rare diseases
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Aliases & Classifications for Congenital Hemolytic Anemia

Summaries for Congenital Hemolytic Anemia

MalaCards based summary: Congenital Hemolytic Anemia, also known as anemia, hemolytic, congenital, is related to triosephosphate isomerase deficiency and congenital dyserythropoietic anemia. An important gene associated with Congenital Hemolytic Anemia is SPTA1 (Spectrin Alpha, Erythrocytic 1), and among its related pathways/superpathways are Clear cell renal cell carcinoma pathways and Interaction between L1 and Ankyrins. The drugs Benzocaine and Tannic acid have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, myeloid and bone, and related phenotypes are homeostasis/metabolism and growth/size/body region

Wikipedia: 75 Congenital hemolytic anemia refers to hemolytic anemia which is primarily due to congenital... more...

Related Diseases for Congenital Hemolytic Anemia

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 166)
# Related Disease Score Top Affiliating Genes
1 triosephosphate isomerase deficiency 32.4 TPI1 GPI EPB42
2 congenital dyserythropoietic anemia 32.1 SEC23B KLF1 CDAN1
3 hereditary spherocytosis 31.4 SPTB SPTA1 SEC23B PKLR KLF1 HP
4 pyropoikilocytosis, hereditary 31.0 SPTB SPTA1
5 pyruvate kinase deficiency of red cells 30.9 SPTA1 SEC23B PKLR G6PD EPB42
6 deficiency anemia 30.8 TF SPTB SPTA1 PKLR KLF1 HP
7 glucosephosphate dehydrogenase deficiency 30.7 SPTA1 PKLR HP HBE1 HBB G6PD
8 sickle cell disease 30.6 HBD HBB G6PD
9 thalassemia minor 30.6 HBE1 HBD HBB
10 bilirubin metabolic disorder 30.5 SPTA1 HP G6PD EPB42 ATP11C
11 thalassemia 30.5 TF KLF1 HP HBE1 HBD HBB
12 hemolytic anemia 30.4 TPI1 TF SPTB SPTA1 SEC23B PKLR
13 sickle cell anemia 30.4 KLF1 HP HBE1 HBD HBB G6PD
14 splenic sequestration 30.4 HP HBE1 HBB
15 anemia, congenital dyserythropoietic, type ii 30.3 SEC23B KLF1 CDAN1
16 congenital nonspherocytic hemolytic anemia 30.3 SPTA1 PKLR KLF1 GPI G6PD EPB42
17 iron metabolism disease 30.3 TF HBB G6PD
18 beta-thalassemia major 30.3 KLF1 HP HBE1 HBD HBB BCL11A
19 alpha-thalassemia 30.2 KLF1 HP HBE1 HBD HBB G6PD
20 hemoglobin e disease 30.1 KLF1 HBE1 HBD HBB BCL11A
21 beta-thalassemia 30.1 TF SPTB SPTA1 KLF1 HBE1 HBD
22 hemoglobinopathy 30.0 TF KLF1 HP HBE1 HBD HBB
23 anemia, congenital dyserythropoietic, type iv 30.0 SEC23B PKLR KLF1 EPB42 CDAN1 BCL11A
24 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema 30.0 SPTA1 SEC23B PKLR KLF1 GPI EPB42
25 hereditary elliptocytosis 30.0 SPTB SPTA1 SEC23B PKLR HBE1 HBB
26 erythroleukemia 30.0 KLF1 HBE1 HBB
27 anemia, congenital dyserythropoietic, type ia 29.7 TPI1 SPTA1 SEC23B PKLR KLF1 GPI
28 hemolytic anemia, congenital, x-linked 11.7
29 uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to 11.2
30 glycogen storage disease xii 11.2
31 renal tubular acidosis, distal, 4, with hemolytic anemia 11.1
32 distal renal tubular acidosis with hemolytic anemia 11.1
33 gallbladder disease 1 10.4
34 hemoglobin lepore-beta-thalassemia syndrome 10.4 HBD HBB
35 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome 10.3 KLF1 HBB
36 trimethoprim allergy 10.3 HP G6PD
37 acquired methemoglobinemia 10.3 G6PD CYB5R3
38 histiocytosis-lymphadenopathy plus syndrome 10.3 HBE1 HBB G6PD
39 microcytic anemia 10.3 TF HBB G6PD
40 middle lobe syndrome 10.3 HBD HBB
41 blackwater fever 10.3 HP G6PD
42 penile disease 10.3 HBB BCL11A ADA
43 neonatal anemia 10.3 PKLR KLF1 HBB
44 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome 10.3 KLF1 HBB BCL11A
45 hypochromic microcytic anemia 10.3 TF HBE1 HBB
46 granulomatous disease, chronic, x-linked 10.3 HBB BCL11A ADA
47 acute chest syndrome 10.3 HP HBB BCL11A
48 priapism 10.3 HP HBB BCL11A
49 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 10.3 SEC23B CDAN1
50 hemoglobin h disease 10.3 HBE1 HBB BCL11A

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



Diseases related to Congenital Hemolytic Anemia

Symptoms & Phenotypes for Congenital Hemolytic Anemia

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.17 ADA ANK1 ATP11C BCL11A CDAN1 CYB5R3
2 no effect GR00402-S-2 10.17 ADA ATP11C BCL11A CDAN1 CYB5R3 GPI

MGI Mouse Phenotypes related to Congenital Hemolytic Anemia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.35 ADA ANK1 ATP11C BCL11A CDAN1 CYB5R3
2 growth/size/body region MP:0005378 10.17 ADA ANK1 CDAN1 G6PD GPI HBB
3 immune system MP:0005387 10.09 ADA ANK1 ATP11C BCL11A CYB5R3 EPB42
4 liver/biliary system MP:0005370 10.06 ADA ANK1 GPI HBB HBD HP
5 muscle MP:0005369 9.98 ADA ANK1 CYB5R3 HBB HBD SPTA1
6 cardiovascular system MP:0005385 9.96 ADA ANK1 CDAN1 CYB5R3 G6PD GPI
7 hematopoietic system MP:0005397 9.93 ADA ANK1 ATP11C BCL11A CDAN1 CYB5R3
8 mortality/aging MP:0010768 9.55 ADA ANK1 BCL11A CDAN1 CYB5R3 G6PD

Drugs & Therapeutics for Congenital Hemolytic Anemia

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

(show all 33)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
2
Tannic acid Approved Phase 3 1401-55-4 16129878 16129778
3 Pyruvate Phase 3
4
Alemtuzumab Approved, Investigational Phase 1, Phase 2 216503-57-0
5
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 5284616 6436030
6
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
7
Clotrimazole Approved, Vet_approved Phase 1, Phase 2 23593-75-1 2812
8
Triethylenetetramine Approved, Investigational Phase 2 112-24-3 5565
9
Cholecalciferol Approved, Nutraceutical, Vet_approved Phase 2 67-97-0, 1406-16-2 5280795 10883523
10
Ergocalciferol Approved, Nutraceutical Phase 2 50-14-6 5280793
11 Anti-Bacterial Agents Phase 1, Phase 2
12 Anti-Infective Agents Phase 1, Phase 2
13 Antifungal Agents Phase 1, Phase 2
14 Antibiotics, Antitubercular Phase 1, Phase 2
15 Immunosuppressive Agents Phase 1, Phase 2
16 Antineoplastic Agents, Immunological Phase 1, Phase 2
17 Vitamins Phase 2
18
Vitamin D2 Phase 2 3249
19 Hormones Phase 2
20 Trace Elements Phase 2
21 Calciferol Phase 2
22 Ergocalciferols Phase 2
23 Calcium, Dietary Phase 2
24 Micronutrients Phase 2
25 Chelating Agents Phase 2
26 Chrysarobin Phase 2
27
Calcium Nutraceutical Phase 2 7440-70-2 271
28 Immunologic Factors
29 Immunoglobulins, Intravenous
30 Immunoglobulins
31 Antibodies
32 gamma-Globulins
33 Rho(D) Immune Globulin

Interventional clinical trials:

(show all 18)
# Name Status NCT ID Phase Drugs
1 An Open-Label Study To Evaluate the Efficacy and Safety of AG-348 in Regularly Transfused Adult Subjects With Pyruvate Kinase (PK) Deficiency Completed NCT03559699 Phase 3 AG-348
2 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 Completed NCT03548220 Phase 3 Placebo;AG-348
3 A Phase 3, Multicenter, Randomized, Double-blind, Placebo-Controlled Study to Evaluate the Efficacy and Safety of Mitapivat in Pediatric Subjects With Pyruvate Kinase Deficiency Who Are Regularly Transfused, Followed by a 5-Year Open-label Extension Period Recruiting NCT05144256 Phase 3 Mitapivat;Mitapivat-matching placebo
4 A Phase 3, Multicenter, Randomized, Double-blind, Placebo-Controlled Study to Evaluate the Efficacy and Safety of Mitapivat in Pediatric Subjects With Pyruvate Kinase Deficiency Who Are Not Regularly Transfused, Followed by a 5-Year Open-label Extension Period Recruiting NCT05175105 Phase 3 Mitapivat;Mitapivat-matching placebo
5 An Open-Label, Multicenter, Extension Study of AG-348 in Adult Subjects With Pyruvate Kinase Deficiency Previously Enrolled in AG-348 Studies Active, not recruiting NCT03853798 Phase 3 AG-348
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 An Explananatory, Proof-of-concept Study of Senicapoc in Patients With Familial Dehydrated Stomatocytosis Caused by the V282M Mutation in the Gardos (KCNN4) Channel Recruiting NCT04372498 Phase 1, Phase 2 Senicapoc (synonyms: ICA-17043; 2,2-bis-(4-fluorophenyl)-2-phenylacetamide)
8 Daily Vitamin D for Sickle-cell Respiratory Complications Active, not recruiting NCT04170348 Phase 2 Daily oral vitamin D3, 3,333 IU;Bolus oral vitamin D3, 100,000 IU;Placebo oral tablet
9 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
10 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
11 Pyruvate Kinase Deficiency Epidemiological Study. An International, Multicentre, Epidemiological Observational Study Unknown status NCT03866590
12 Pyruvate Kinase Deficiency (PKD) Natural History Study Completed NCT02053480
13 National Exhaustive Cohort of Hereditary Stomatocytoses and Other Channelopathies Affecting the Red Blood Cell Recruiting NCT04778657
14 Pyruvate Kinase Deficiency Global Longitudinal Registry Substudy of Protocol AG348-C-008: Cognition in Participants With Pyruvate Kinase Deficiency Recruiting NCT04995315
15 Pyruvate Kinase Deficiency Global Longitudinal Registry: Patient-Reported Outcomes Recruiting NCT04964323
16 Pyruvate Kinase Deficiency Global Longitudinal Registry Recruiting NCT03481738
17 Acute Human Parvovirus B19 Infection Triggers Immune-Mediated Transient Bone Marrow Failure Syndrome, Extreme Direct Hyperbilirubinemia and Acute Hepatitis in Patients With Hereditary Hemolytic Anemias: Multicenter Pathophysiological Study Active, not recruiting NCT04822090
18 Characterization Of Acquired Pyruvate Kinase Deficiency In Clonal Myeloid Neoplasms Not yet recruiting NCT04902833

Search NIH Clinical Center for Congenital Hemolytic Anemia

Cochrane evidence based reviews: anemia, hemolytic, congenital

Genetic Tests for Congenital Hemolytic Anemia

Genetic tests related to Congenital Hemolytic Anemia:

# Genetic test Affiliating Genes
1 Congenital Hemolytic Anemia 28

Anatomical Context for Congenital Hemolytic Anemia

Organs/tissues related to Congenital Hemolytic Anemia:

MalaCards : Bone Marrow, Myeloid, Bone, Spleen, Liver, Monocytes, Prostate

Publications for Congenital Hemolytic Anemia

Articles related to Congenital Hemolytic Anemia:

(show top 50) (show all 493)
# Title Authors PMID Year
1
[Congenital hemolytic anemia due to glucose-6-phosphate dehydrogenase deficiency]. 53 62
20099666 2009
2
Erythropoietin and iron-restricted erythropoiesis. 53 62
17379103 2007
3
Combined glucose-6-phosphate dehydrogenase and glucosephosphate isomerase deficiency can alter clinical outcome. 53 62
12737943 2003
4
[Glucose-6-phosphate dehydrogenase deficiency and hereditary hemolytic anemia]. 53 62
10645652 1999
5
Triosephosphate isomerase deficiency in a child with congenital hemolytic anemia and severe hypotonia. 53 62
9842650 1998
6
Expression and enzymatic characterization of human glucose phosphate isomerase (GPI) variants accounting for GPI deficiency. 53 62
9616041 1998
7
Molecular characterization of PK-LR gene in pyruvate kinase-deficient Italian patients. 53 62
9160692 1997
8
Molecular analysis of glucose phosphate isomerase deficiency associated with hereditary hemolytic anemia. 53 62
8822954 1996
9
A novel variant of SLC4A1 for hereditary spherocytosis in a Chinese family: a case report and systematic review. 62
36463227 2022
10
Prenatal management of fetal anemia due to pyruvate kinase deficiency: A case report. 62
36349479 2022
11
Korean clinical practice guidelines for the diagnosis of hereditary hemolytic anemia. 62
35593002 2022
12
[Congenital hemolytic anemia caused by a new mutation of ATP11C gene: a case report]. 62
35968600 2022
13
Maternal hereditary hemolytic anemia and birth defects in the National Birth Defects Prevention Study. 62
35247031 2022
14
Effects of SPTA1 Gene Variants on the Hematological Phenotype of Mexican Patients with Hereditary Spherocytosis. 62
35638908 2022
15
Congenital anemia reveals distinct targeting mechanisms for master transcription factor GATA1. 62
35030251 2022
16
A Systematic review on diagnostic methods of red cell membrane disorders in Asia. 62
35068068 2022
17
Neonatal Myocardial Ischemia-Reperfusion Injury: A Proposed Pathogenic Sequence in the Context of Maternal/Fetal Vascular Malperfusion and Paradoxical Embolism. 62
34551278 2022
18
Red cell ektacytometry in two patients with chronic hemolytic anemia and three new α-spectrin variants. 62
34845540 2022
19
Molecular genetic testing enabled the diagnosis of otherwise undiagnosable cases of pyruvate kinase deficiency. 62
34281465 2022
20
First report of successful treatment for hemoglobin Bristol-Alesha by hemopoietic stem cell transplantation. 62
34851438 2022
21
Clinical and genetic diagnosis of thirteen Japanese patients with hereditary spherocytosis. 62
35022413 2022
22
New KCNN4 Variants Associated With Anemia: Stomatocytosis Without Erythrocyte Dehydration. 62
36003639 2022
23
Prevalence of transfusion-transmitted infections in multiple blood transfusion-dependent thalassemic patients in Asia: A systemic review. 62
35452334 2022
24
Effect of primary lesions in cytoskeleton proteins on red cell membrane stability in patients with hereditary spherocytosis. 62
36035481 2022
25
Challenges of Managing Multiple Myeloma Patients with Sickle Cell Disease: A Case Report and Review of Literature. 62
34963677 2021
26
Molecular and phenotype characterization of an elongated β-globin variant produced by HBB:C.313delA. 62
34271589 2021
27
Infantile Pyknocytosis in a Premature Dichorionic Diamniotic Twin. 62
33235153 2021
28
Adolescent with Alport syndrome and congenital hemolytic anemia. 62
34158190 2021
29
Combining microfluidics with machine learning algorithms for RBC classification in rare hereditary hemolytic anemia. 62
34193899 2021
30
Six novel variants in the PKLR gene associated with pyruvate kinase deficiency in Argentinian patients. 62
33631127 2021
31
CMV, B and C hepatitis among multi-transfused hereditary hemolytic Anemia children: an updated Egyptian experience. 62
34039385 2021
32
VPS4A mutation in syndromic congenital hemolytic anemia without obvious signs of dyserythropoiesis. 62
33460484 2021
33
Screening tools for hereditary hemolytic anemia: new concepts and strategies. 62
33543663 2021
34
Characterization of hereditary red blood cell membranopathies using combined targeted next-generation sequencing and osmotic gradient ektacytometry. 62
33074480 2021
35
Partial Splenectomy for a Sizeable Cavernous Hemangioma: Case Report and a Review of the Literature. 62
33633911 2021
36
Compound Heterozygosity for KLF1 Mutations Causing Hemolytic Anemia in Children: A Case Report and Literature Review. 62
34249106 2021
37
[Diagnosis of congenital hemolytic anemia by comprehensive gene analysis: significance and limitations]. 62
34248124 2021
38
How I approach hereditary hemolytic anemia and splenectomy. 62
32391969 2020
39
Novel COL4A1 mutations identified in infants with congenital hemolytic anemia in association with brain malformations. 62
33298904 2020
40
Congenital Hemolytic Anemia Because of Glucose Phosphate Isomerase Deficiency: Identification of 2 Novel Missense Mutations in the GPI Gene. 62
31415279 2020
41
Epidemiological Study of Hereditary Hemolytic Anemia in the Korean Pediatric Population during 1997-2016: a Nationwide Retrospective Cohort Study. 62
32830468 2020
42
A novel PIEZO1 mutation in a patient with dehydrated hereditary stomatocytosis: a case report and a brief review of literature. 62
32703298 2020
43
Exome sequencing for diagnosis of congenital hemolytic anemia. 62
32641076 2020
44
Leukocyte telomere length in patients with transfusion-dependent thalassemia. 62
32487251 2020
45
Genotype-phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency. 62
32043619 2020
46
Heterogeneous phenotype of Hereditary Xerocytosis in association with PIEZO1 variants. 62
32109669 2020
47
Mechanosensitive Piezo1 ion channel protein (PIEZO1 gene): update and extended mutation analysis of hereditary xerocytosis in India. 62
32112123 2020
48
Interplay of erythropoietin, fibroblast growth factor 23, and erythroferrone in patients with hereditary hemolytic anemia. 62
32324886 2020
49
How will next generation sequencing (NGS) improve the diagnosis of congenital hemolytic anemia? 62
32355712 2020
50
Rapid Identification of Biallelic SPTB Mutation in a Neonate with Severe Congenital Hemolytic Anemia and Liver Failure. 62
32256302 2020

Variations for Congenital Hemolytic Anemia

ClinVar genetic disease variations for Congenital Hemolytic Anemia:

5 (show all 12)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SPTA1 NM_003126.4(SPTA1):c.3291G>A (p.Trp1097Ter) SNV Pathogenic
544823 rs1553231217 GRCh37: 1:158622341-158622341
GRCh38: 1:158652551-158652551
2 SPTA1 NM_003126.4(SPTA1):c.6600+5G>T SNV Likely Pathogenic
544819 rs1462060431 GRCh37: 1:158587322-158587322
GRCh38: 1:158617532-158617532
3 G6PD NM_001360016.2(G6PD):c.448G>A (p.Val150Ile) SNV Likely Pathogenic
544826 rs1557230573 GRCh37: X:153763420-153763420
GRCh38: X:154535205-154535205
4 SPTA1 NM_003126.4(SPTA1):c.6672A>C (p.Glu2224Asp) SNV Likely Pathogenic
258956 rs142775522 GRCh37: 1:158585122-158585122
GRCh38: 1:158615332-158615332
5 SPTA1 NM_003126.4(SPTA1):c.1688G>A (p.Arg563Gln) SNV Uncertain Significance
544820 rs202243588 GRCh37: 1:158639343-158639343
GRCh38: 1:158669553-158669553
6 PLEKHG3, SPTB NM_001355436.2(SPTB):c.6706C>A (p.Leu2236Met) SNV Uncertain Significance
544814 rs1555364746 GRCh37: 14:65216769-65216769
GRCh38: 14:64750051-64750051
7 PLEKHG3, SPTB NM_001355436.2(SPTB):c.6737C>T (p.Ala2246Val) SNV Uncertain Significance
544815 rs1555364743 GRCh37: 14:65216738-65216738
GRCh38: 14:64750020-64750020
8 CD46 NM_172351.3(CD46):c.402T>G (p.Ile134Met) SNV Uncertain Significance
544824 rs1553250568 GRCh37: 1:207932996-207932996
GRCh38: 1:207759651-207759651
9 PIEZO1, LOC100289580 NM_001142864.4(PIEZO1):c.1126C>G (p.Pro376Ala) SNV Uncertain Significance
544825 rs1474972037 GRCh37: 16:88804036-88804036
GRCh38: 16:88737628-88737628
10 ABCG5, ABCG8 NM_022437.3(ABCG8):c.-27G>A SNV Uncertain Significance
544827 rs779984848 GRCh37: 2:44066166-44066166
GRCh38: 2:43839027-43839027
11 C3 NM_000064.4(C3):c.1921G>A (p.Asp641Asn) SNV Uncertain Significance
544828 rs1348311492 GRCh37: 19:6707865-6707865
GRCh38: 19:6707854-6707854
12 SPTB NM_001355436.2(SPTB):c.6271C>A (p.Pro2091Thr) SNV Likely Benign
544818 rs372733273 GRCh37: 14:65233518-65233518
GRCh38: 14:64766800-64766800

Expression for Congenital Hemolytic Anemia

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

Pathways for Congenital Hemolytic Anemia

GO Terms for Congenital Hemolytic Anemia

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

# Name GO ID Score Top Affiliating Genes
1 blood microparticle GO:0072562 9.96 HBB HBD HBE1 HP TF
2 cytoplasmic side of plasma membrane GO:0009898 9.87 SPTB SPTA1 G6PD ANK1
3 spectrin GO:0008091 9.71 SPTB SPTA1
4 spectrin-associated cytoskeleton GO:0014731 9.63 SPTB SPTA1 ANK1
5 hemoglobin complex GO:0005833 9.56 HBE1 HBD HBB CYB5R3
6 obsolete intrinsic component of the cytoplasmic side of the plasma membrane GO:0031235 9.37 SPTB SPTA1
7 haptoglobin-hemoglobin complex GO:0031838 9.23 HP HBE1 HBD HBB

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

# Name GO ID Score Top Affiliating Genes
1 cellular oxidant detoxification GO:0098869 9.86 HBB HBD HBE1 HP
2 glycolytic process GO:0006096 9.85 TPI1 PKLR GPI
3 hydrogen peroxide catabolic process GO:0042744 9.8 HBE1 HBD HBB
4 glucose 6-phosphate metabolic process GO:0051156 9.71 GPI G6PD
5 oxygen transport GO:0015671 9.63 HBE1 HBD HBB
6 carbon dioxide transport GO:0015670 9.43 HBE1 HBD HBB
7 positive regulation of cell death GO:0010942 9.23 HP HBE1 HBD HBB

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

# Name GO ID Score Top Affiliating Genes
1 structural constituent of cytoskeleton GO:0005200 9.92 ANK1 EPB42 SPTA1 SPTB
2 peroxidase activity GO:0004601 9.88 HBE1 HBD HBB
3 oxygen binding GO:0019825 9.85 HBE1 HBD HBB
4 monosaccharide binding GO:0048029 9.76 PKLR GPI
5 hemoglobin binding GO:0030492 9.73 HP HBB
6 oxygen carrier activity GO:0005344 9.73 HBE1 HBD HBB
7 organic acid binding GO:0043177 9.63 HBE1 HBD HBB
8 haptoglobin binding GO:0031720 9.43 HBE1 HBD HBB
9 hemoglobin alpha binding GO:0031721 9.1 HBE1 HBD HBB

Sources for Congenital Hemolytic Anemia

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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