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MCID: CNG027
MIFTS: 49

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 73 20 29 6 15
Anemia, Hemolytic, Congenital 44 70
Anemia Hemolytic Congenital 20 54
Congenital Hemolytic Anaemia 12
Hereditary Hemolytic Anaemia 12
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: 32


External Ids:

Disease Ontology 12 DOID:589
ICD9CM 34 282
MeSH 44 D000745
NCIt 50 C34379
SNOMED-CT 67 42601008
ICD10 32 D58.8 D58.9
UMLS 70 C0002881
Sources

Summaries for Congenital Hemolytic Anemia

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MalaCards based summary : Congenital Hemolytic Anemia, also known as anemia, hemolytic, congenital, is related to triosephosphate isomerase deficiency 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 Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers. The drugs pyruvate and alemtuzumab have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, bone and spleen, and related phenotypes are Decreased viability and Decreased viability

Wikipedia : 73 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 168)
# Related Disease Score Top Affiliating Genes
1 triosephosphate isomerase deficiency 32.1 TPI1 GPI
2 hereditary spherocytosis 31.8 SPTB SPTA1 PKLR PIEZO1 HP HBG1
3 thalassemia 31.2 HBG1 HBB HBA2
4 hemosiderosis 30.9 TF HP EPO
5 deficiency anemia 30.9 TF SPTB SPTA1 PKLR IL3 HP
6 glucosephosphate isomerase deficiency 30.8 GPI G6PD
7 hereditary elliptocytosis 30.8 SPTB SPTA1 PIEZO1 HBB G6PD
8 bilirubin metabolic disorder 30.8 HP G6PD EPO ATP11C
9 thalassemia minor 30.7 HBB HBA2 EPO
10 hemolytic anemia 30.7 TPI1 TF SPTB SPTA1 PKLR PIEZO1
11 glucosephosphate dehydrogenase deficiency 30.6 PKLR HP HBB G6PD
12 acute erythroid leukemia 30.5 HBG1 HBB EPO
13 neonatal jaundice 30.5 SPTA1 PKLR G6PD
14 anemia, autoimmune hemolytic 30.5 HP G6PD C3
15 splenic sequestration 30.5 HP HBB EPO
16 iron deficiency anemia 30.5 TF G6PD EPO
17 hemoglobinopathy 30.5 TF HP HBG1 HBB HBA2 G6PD
18 hemoglobinuria 30.4 HP G6PD EPO C3
19 iron metabolism disease 30.4 TF HBB G6PD EPO
20 congenital nonspherocytic hemolytic anemia 30.4 PKLR PIEZO1 GPI G6PD
21 meningitis 30.4 IFNG CD46 C3 ADA
22 hemolytic-uremic syndrome 30.4 HP CD46 C3
23 sickle cell anemia 30.4 IL3 HBG1 HBB HBA2 G6PD EPO
24 sickle cell disease 30.3 TF HP HBG1 HBB HBA2 G6PD
25 beta-thalassemia 30.3 TF SPTB SPTA1 IL3 HBG1 HBB
26 alpha-thalassemia 30.3 HP HBG1 HBB HBA2 H2AC18 G6PD
27 hemolytic uremic syndrome, atypical 1 30.2 HP CD46 C3
28 hemochromatosis, type 1 30.0 TF SPTA1 PKLR PIEZO1 HP HBB
29 hemolytic anemia, congenital, x-linked 11.6
30 glycogen storage disease xii 11.1
31 congenital dyserythropoietic anemia 11.1
32 atypical hemolytic uremic syndrome with complement gene abnormality 10.5 CD46 C3
33 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome 10.5 HBG1 HBB
34 lumbosacral lipoma 10.5 G6PD EPO
35 hemoglobin zurich 10.5 HBB HBA2
36 glutathione peroxidase deficiency 10.5 HBB HBA2
37 immune hydrops fetalis 10.5 PIEZO1 HBA2
38 ophthalmia nodosa 10.5 TPI1 TF
39 acquired angioedema 10.5 HP C3
40 rh isoimmunization 10.5 G6PD EPO
41 tuberculous peritonitis 10.5 IFNG ADA
42 pericardial tuberculosis 10.4 IFNG ADA
43 genetic atypical hemolytic-uremic syndrome 10.4 CD46 C3
44 glutamate-cysteine ligase deficiency 10.4 SPTA1 PKLR PIEZO1
45 c3 glomerulopathy 10.4 CD46 C3
46 b-cell growth factor 10.4 IL3 IFNG
47 developmental and epileptic encephalopathy 50 10.4 PKLR PIEZO1
48 miliary tuberculosis 10.4 IFNG EPO ADA
49 trimethoprim allergy 10.4 IFNG HP G6PD
50 blackwater fever 10.4 HP G6PD

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



Diseases related to Congenital Hemolytic Anemia
Sources

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 9.66 PKLR
2 Decreased viability GR00221-A-2 9.66 PKLR
3 Decreased viability GR00221-A-4 9.66 PKLR
4 Decreased viability GR00249-S 9.66 G6PD GPI HP PIEZO1 PKLR
5 Decreased viability GR00301-A 9.66 PKLR
6 Decreased viability GR00342-S-3 9.66 PKLR
7 Decreased viability GR00381-A-1 9.66 TPI1
8 Decreased viability GR00386-A-1 9.66 ATP11C C3 EPO G6PD PIEZO1 SPTA1
9 Decreased viability GR00402-S-2 9.66 G6PD IL3 SPTB TF

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 C3 EPO G6PD GPI
2 homeostasis/metabolism MP:0005376 10.2 ADA ATP11C C3 EPO G6PD GPI
3 cardiovascular system MP:0005385 10.18 ADA C3 CD46 EPO G6PD GPI
4 immune system MP:0005387 10.07 ADA ATP11C C3 EPO GPI HP
5 mortality/aging MP:0010768 9.8 ADA C3 EPO G6PD GPI HBA2
6 liver/biliary system MP:0005370 9.76 ADA C3 EPO GPI HP IFNG
7 normal MP:0002873 9.23 ADA ATP11C C3 EPO IFNG PIEZO1
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 32)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 pyruvate Phase 3
2
alemtuzumab Approved, Investigational Phase 1, Phase 2 216503-57-0
3
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 6436030 5284616
4
Clotrimazole Approved, Vet_approved Phase 1, Phase 2 23593-75-1 2812
5
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
6
Vitamin D Approved, Nutraceutical, Vet_approved Phase 2 1406-16-2
7
Vitamin D3 Approved, Nutraceutical Phase 2 67-97-0 5280795 6221
8
Ergocalciferol Approved, Nutraceutical Phase 2 50-14-6 5280793
9 Immunologic Factors Phase 1, Phase 2
10 Antibiotics, Antitubercular Phase 1, Phase 2
11 Immunosuppressive Agents Phase 1, Phase 2
12 Anti-Bacterial Agents Phase 1, Phase 2
13 Antineoplastic Agents, Immunological Phase 1, Phase 2
14 Anti-Infective Agents Phase 1, Phase 2
15 Antifungal Agents Phase 1, Phase 2
16 Nutrients Phase 2
17 Micronutrients Phase 2
18 Trace Elements Phase 2
19 Vitamins Phase 2
20 Chelating Agents Phase 2
21 Vitamin D2 Phase 2
22 Ergocalciferols Phase 2
23 Trientine Phase 2
24 Hormones Phase 2
25 Calciferol Phase 2
26 Calcium, Dietary Phase 2
27
Calcium Nutraceutical Phase 2 7440-70-2 271
28 Immunoglobulins
29 Antibodies
30 Immunoglobulins, Intravenous
31 gamma-Globulins
32 Rho(D) Immune Globulin

Interventional clinical trials:

(show all 14)
# 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 AG-348;Placebo
3 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
4 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
5 Daily Vitamin D for Sickle-cell Respiratory Complications Recruiting NCT04170348 Phase 2 Daily oral vitamin D3, 3,333 IU;Bolus oral vitamin D3, 100,000 IU;Placebo oral tablet
6 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
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 Not yet recruiting NCT04372498 Phase 1, Phase 2 Senicapoc (synonyms: ICA-17043; 2,2-bis-(4-fluorophenyl)-2-phenylacetamide)
8 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
9 Pyruvate Kinase Deficiency (PKD) Natural History Study Completed NCT02053480
10 Pyruvate Kinase Deficiency Global Longitudinal Registry Recruiting NCT03481738
11 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
12 Pyruvate Kinase Deficiency Epidemiological Study. An International, Multicentre, Epidemiological Observational Study Active, not recruiting NCT03866590
13 National Exhaustive Cohort of HEREDITARY STOMATOCYTOSES and Other Channelopathies Affecting the Red Blood Cell Not yet recruiting NCT04778657
14 The Dallas Hereditary Spherocytosis Cohort Study Terminated NCT01141621

Search NIH Clinical Center for Congenital Hemolytic Anemia

Cochrane evidence based reviews: anemia, hemolytic, congenital

Sources

Genetic Tests for Congenital Hemolytic Anemia

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Genetic tests related to Congenital Hemolytic Anemia:

# Genetic test Affiliating Genes
1 Congenital Hemolytic Anemia 29
Sources

Anatomical Context for Congenital Hemolytic Anemia

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MalaCards organs/tissues related to Congenital Hemolytic Anemia:

40
Bone Marrow, Bone, Spleen, Kidney, Monocytes, Pituitary
Sources

Publications for Congenital Hemolytic Anemia

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Articles related to Congenital Hemolytic Anemia:

(show top 50) (show all 300)
# Title Authors PMID Year
1
[Congenital hemolytic anemia due to glucose-6-phosphate dehydrogenase deficiency]. 54 61
20099666 2009
2
Erythropoietin and iron-restricted erythropoiesis. 61 54
17379103 2007
3
Combined glucose-6-phosphate dehydrogenase and glucosephosphate isomerase deficiency can alter clinical outcome. 54 61
12737943 2003
4
Triosephosphate isomerase deficiency in a child with congenital hemolytic anemia and severe hypotonia. 61 54
9842650 1998
5
Molecular characterization of PK-LR gene in pyruvate kinase-deficient Italian patients. 54 61
9160692 1997
6
VPS4A mutation in syndromic congenital hemolytic anemia without obvious signs of dyserythropoiesis. 61
33460484 2021
7
Six novel variants in the PKLR gene associated with pyruvate kinase deficiency in Argentinian patients. 61
33631127 2021
8
Partial Splenectomy for a Sizeable Cavernous Hemangioma: Case Report and a Review of the Literature. 61
33633911 2021
9
Novel COL4A1 mutations identified in infants with congenital hemolytic anemia in association with brain malformations. 61
33298904 2020
10
Congenital Hemolytic Anemia Because of Glucose Phosphate Isomerase Deficiency: Identification of 2 Novel Missense Mutations in the GPI Gene. 61
31415279 2020
11
Exome sequencing for diagnosis of congenital hemolytic anemia. 61
32641076 2020
12
Genotype-phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency. 61
32043619 2020
13
Heterogeneous phenotype of Hereditary Xerocytosis in association with PIEZO1 variants. 61
32109669 2020
14
Mechanosensitive Piezo1 ion channel protein (PIEZO1 gene): update and extended mutation analysis of hereditary xerocytosis in India. 61
32112123 2020
15
How will next generation sequencing (NGS) improve the diagnosis of congenital hemolytic anemia? 61
32355712 2020
16
Rapid Identification of Biallelic SPTB Mutation in a Neonate with Severe Congenital Hemolytic Anemia and Liver Failure. 61
32256302 2020
17
Hereditary xerocytosis - spectrum and clinical manifestations of variants in the PIEZO1 gene, including co-occurrence with a novel β-globin mutation. 61
31670187 2020
18
CONGENITAL HEMOLYTIC ANEMIA IN CHILDREN, FEATURES OF THE COURSE AND DIAGNOSIS. THE CLINICAL CASE. 61
33055354 2020
19
A Proposed Concept for Defective Mitophagy Leading to Late Stage Ineffective Erythropoiesis in Pyruvate Kinase Deficiency. 61
33551834 2020
20
Safety and Efficacy of Mitapivat in Pyruvate Kinase Deficiency. 61
31483964 2019
21
Capillary electrophoresis and mutational images of hemoglobin sendagi [Β42 (CD1) PHE → VAL; HBB: C.127T→G]. 61
31299317 2019
22
ATP11C T418N, a gene mutation causing congenital hemolytic anemia, reduces flippase activity due to improper membrane trafficking. 61
31253392 2019
23
Congenital Nonspherocytic Hemolytic Anemia Caused by Krüppel-Like Factor 1 Gene Variants: Another Case Report. 61
31645145 2019
24
Aberrant splicing contributes to severe α-spectrin-linked congenital hemolytic anemia. 61
31038472 2019
25
Identification and functional analyses of disease-associated P4-ATPase phospholipid flippase variants in red blood cells. 61
30850395 2019
26
TGA/Chemometric Test Is Able to Detect the Presence of a Rare Hemoglobin Variant Hb Bibba. 61
31632985 2019
27
Severe congenital hemolytic anemia caused by a novel compound heterozygous PKLR gene mutation in a Chinese boy. 61
30628965 2019
28
Whole-exome sequencing for the genetic diagnosis of congenital red blood cell membrane disorders in Taiwan. 61
30317022 2018
29
Thalassemia major phenotype caused by HB Zürich-Albisrieden [α2 59(E8) Gly > Arg (HBA2:C.178G > C)] in a Brazilian child. 61
30151892 2018
30
A Case With Pyruvate Kinase Deficiency Remarkably Sensitive to Heat. 61
29309376 2018
31
Whole-exome analysis to detect congenital hemolytic anemia mimicking congenital dyserythropoietic anemia. 61
29936674 2018
32
Lung masses in a thalassemia patient: A diagnostic dilemma. 61
31435353 2018
33
Exome sequencing confirms molecular diagnoses in 38 Chinese families with hereditary spherocytosis. 61
29572776 2018
34
Utility of mean sphered cell volume and mean reticulocyte volume for the diagnosis of hereditary spherocytosis. 61
29338606 2018
35
Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study. 61
29549173 2018
36
[Using target next-generation sequencing assay in diagnosing of 46 patients with suspected congenital anemias]. 61
29779353 2018
37
A Case Report of Congenital Non-spherocytic Hemolytic Anemia in a Patient from India. 61
29904619 2018
38
An Infant With Unusually High Unconjugated Hyperbilirubinemia Due to Coexistence of Hereditary Spherocytosis and Gilbert Syndrome. 61
29200157 2018
39
Hereditary spherocytosis: Retrospective evaluation of 65 children. 61
30511538 2018
40
An ANK1 IVS3-2A>C mutation causes exon 4 skipping in two patients from a Chinese family with hereditary spherocytosis. 61
29348906 2017
41
Novel mechanisms of PIEZO1 dysfunction in hereditary xerocytosis. 61
28716860 2017
42
Oral tetrahydrouridine and decitabine for non-cytotoxic epigenetic gene regulation in sickle cell disease: A randomized phase 1 study. 61
28880867 2017
43
Next-generation sequencing unravels homozygous mutation in glucose-6-phosphate isomerase, GPIc.1040G>A (p.Arg347His) causing hemolysis in an Indian infant. 61
28223188 2017
44
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. 61
28670945 2017
45
Congenital Hemolytic Anemia. 61
28189176 2017
46
Hereditary Spherocytosis - Diagnosis, Surgical Treatment and Outcomes. A Literature Review. 61
28463670 2017
47
Diagnostic Dilemma of Hb Perth [β32(B14)Leu→Pro; HBB: c.98T > C] in Mainland China. 61
27117570 2016
48
Acquired and Congenital Hemolytic Anemia. 61
27252179 2016
49
ATP11C is a major flippase in human erythrocytes and its defect causes congenital hemolytic anemia. 61
26944472 2016
50
Positive predictive value of diagnosis coding for hemolytic anemias in the Danish National Patient Register. 61
27445504 2016
Sources

Variations for Congenital Hemolytic Anemia

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ClinVar genetic disease variations for Congenital Hemolytic Anemia:

6 (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 G6PD NM_001360016.2(G6PD):c.448G>A (p.Val150Ile) SNV Likely pathogenic 544826 rs1557230573 GRCh37: X:153763420-153763420
GRCh38: X:154535205-154535205
3 SPTA1 NM_003126.4(SPTA1):c.6672A>C (p.Glu2224Asp) SNV Likely pathogenic 258956 rs142775522 GRCh37: 1:158585122-158585122
GRCh38: 1:158615332-158615332
4 SPTA1 NM_003126.4(SPTA1):c.6600+5G>T SNV Likely pathogenic 544819 rs1462060431 GRCh37: 1:158587322-158587322
GRCh38: 1:158617532-158617532
5 ABCG8 NM_022437.3(ABCG8):c.-27G>A SNV Uncertain significance 544827 rs779984848 GRCh37: 2:44066166-44066166
GRCh38: 2:43839027-43839027
6 C3 NM_000064.4(C3):c.1921G>A (p.Asp641Asn) SNV Uncertain significance 544828 rs1348311492 GRCh37: 19:6707865-6707865
GRCh38: 19:6707854-6707854
7 CD46 NM_172351.3(CD46):c.402T>G (p.Ile134Met) SNV Uncertain significance 544824 rs1553250568 GRCh37: 1:207932996-207932996
GRCh38: 1:207759651-207759651
8 SPTA1 NM_003126.4(SPTA1):c.1688G>A (p.Arg563Gln) SNV Uncertain significance 544820 rs202243588 GRCh37: 1:158639343-158639343
GRCh38: 1:158669553-158669553
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 PLEKHG3 , SPTB NM_001308147.2(PLEKHG3):c.*6348G>T SNV Uncertain significance 544814 rs1555364746 GRCh37: 14:65216769-65216769
GRCh38: 14:64750051-64750051
11 PLEKHG3 , SPTB NM_001308147.2(PLEKHG3):c.*6317G>A SNV Uncertain significance 544815 rs1555364743 GRCh37: 14:65216738-65216738
GRCh38: 14:64750020-64750020
12 SPTB NM_001355436.2(SPTB):c.6271C>A (p.Pro2091Thr) SNV Likely benign 544818 rs372733273 GRCh37: 14:65233518-65233518
GRCh38: 14:64766800-64766800
Sources

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 36
Show member pathways
 12 TPI1 PKLR GPI G6PD
2
Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers 64
11.7 IL3 IFNG EPO
3
HIF-1 signaling pathway 36
11.65 TF IFNG EPO
4
Binding and Uptake of Ligands by Scavenger Receptors 65
Show member pathways
 11.6 HP HBB HBA2
5
Malaria 36
11.13 IFNG HBB HBA2
6
Differentiation Pathway 1
11.01 TF IL3 EPO
7
African trypanosomiasis 36
10.7 IFNG HBB HBA2
8
Pentose Phosphate Pathway (Erythrocyte), Pharmacodynamics 60
10.1 GPI G6PD
9
Cori Cycle 1
10 TPI1 GPI G6PD
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 12)
# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 10.15 TF IL3 IFNG HP HBB HBA2
2 extracellular exosome GO:0070062 10 TPI1 TF PKLR HP HBB HBA2
3 cell surface GO:0009986 9.88 TF SPTB EPO CD46 C3 ADA
4 extracellular space GO:0005615 9.7 TPI1 TF IL3 IFNG HP HBB
5 secretory granule lumen GO:0034774 9.69 TF GPI C3
6 blood microparticle GO:0072562 9.55 TF HP HBB HBA2 C3
7 endocytic vesicle lumen GO:0071682 9.54 HP HBB HBA2
8 hemoglobin complex GO:0005833 9.5 HBG1 HBB HBA2
9 spectrin GO:0008091 9.48 SPTB SPTA1
10 spectrin-associated cytoskeleton GO:0014731 9.46 SPTB SPTA1
11 intrinsic component of the cytoplasmic side of the plasma membrane GO:0031235 9.43 SPTB SPTA1
12 haptoglobin-hemoglobin complex GO:0031838 8.92 HP HBG1 HBB HBA2

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.61 IL3 IFNG EPO
2 positive regulation of cell death GO:0010942 9.58 HP HBB HBA2
3 glycolytic process GO:0006096 9.54 TPI1 PKLR GPI
4 hydrogen peroxide catabolic process GO:0042744 9.5 HBG1 HBB HBA2
5 erythrocyte maturation GO:0043249 9.48 G6PD EPO
6 glucose 6-phosphate metabolic process GO:0051156 9.46 GPI G6PD
7 cellular oxidant detoxification GO:0098869 9.46 HP HBG1 HBB HBA2
8 canonical glycolysis GO:0061621 9.43 TPI1 PKLR GPI
9 oxygen transport GO:0015671 9.13 HBG1 HBB HBA2
10 response to hydrogen peroxide GO:0042542 8.92 HP HBB HBA2 ADA

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

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.73 IL3 IFNG GPI EPO
2 peroxidase activity GO:0004601 9.5 HBG1 HBB HBA2
3 oxygen binding GO:0019825 9.43 HBG1 HBB HBA2
4 hemoglobin alpha binding GO:0031721 9.4 HBG1 HBB
5 hemoglobin binding GO:0030492 9.37 HP HBB
6 oxygen carrier activity GO:0005344 9.33 HBG1 HBB HBA2
7 organic acid binding GO:0043177 9.13 HBG1 HBB HBA2
8 haptoglobin binding GO:0031720 8.8 HBG1 HBB HBA2
Sources

Sources for Congenital Hemolytic Anemia

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 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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