Congenital Hemolytic Anemia disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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...

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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:

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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

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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

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Genetic Tests for Congenital Hemolytic Anemia

Genetic tests related to Congenital Hemolytic Anemia:

#	Genetic test	Affiliating Genes
1	Congenital Hemolytic Anemia ²⁸

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Anatomical Context for Congenital Hemolytic Anemia

Organs/tissues related to Congenital Hemolytic Anemia:

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

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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	Mura M...Oliver M	20099666	2009
2	Erythropoietin and iron-restricted erythropoiesis. ⁵³ ⁶²	Goodnough LT	17379103	2007
3	Combined glucose-6-phosphate dehydrogenase and glucosephosphate isomerase deficiency can alter clinical outcome. ⁵³ ⁶²	Clarke JL...Layton DM	12737943	2003
4	[Glucose-6-phosphate dehydrogenase deficiency and hereditary hemolytic anemia]. ⁵³ ⁶²	Salvati AM...Tarzia A	10645652	1999
5	Triosephosphate isomerase deficiency in a child with congenital hemolytic anemia and severe hypotonia. ⁵³ ⁶²	Linarello RE...Warrier RP	9842650	1998
6	Expression and enzymatic characterization of human glucose phosphate isomerase (GPI) variants accounting for GPI deficiency. ⁵³ ⁶²	Kanno H...Miwa S	9616041	1998
7	Molecular characterization of PK-LR gene in pyruvate kinase-deficient Italian patients. ⁵³ ⁶²	Zanella A...Sirchia G	9160692	1997
8	Molecular analysis of glucose phosphate isomerase deficiency associated with hereditary hemolytic anemia. ⁵³ ⁶²	Kanno H...Miwa S	8822954	1996
9	A novel variant of SLC4A1 for hereditary spherocytosis in a Chinese family: a case report and systematic review. ⁶²	Li J...Xue L	36463227	2022
10	Prenatal management of fetal anemia due to pyruvate kinase deficiency: A case report. ⁶²	Maisonneuve E...Jouannic JM	36349479	2022
11	Korean clinical practice guidelines for the diagnosis of hereditary hemolytic anemia. ⁶²	Chueh HW...Korean RBC Disorder Working Party	35593002	2022
12	[Congenital hemolytic anemia caused by a new mutation of ATP11C gene: a case report]. ⁶²	Zhang HM...Liu QC	35968600	2022
13	Maternal hereditary hemolytic anemia and birth defects in the National Birth Defects Prevention Study. ⁶²	Papadopoulos EA...National Birth Defects Prevention Study	35247031	2022
14	Effects of SPTA1 Gene Variants on the Hematological Phenotype of Mexican Patients with Hereditary Spherocytosis. ⁶²	Herrera-Tirado IM...Perea-Diaz FJ	35638908	2022
15	Congenital anemia reveals distinct targeting mechanisms for master transcription factor GATA1. ⁶²	Ludwig LS...Sankaran VG	35030251	2022
16	A Systematic review on diagnostic methods of red cell membrane disorders in Asia. ⁶²	Silva R...Premawardhena A	35068068	2022
17	Neonatal Myocardial Ischemia-Reperfusion Injury: A Proposed Pathogenic Sequence in the Context of Maternal/Fetal Vascular Malperfusion and Paradoxical Embolism. ⁶²	Manci EA...Bhat R	34551278	2022
18	Red cell ektacytometry in two patients with chronic hemolytic anemia and three new α-spectrin variants. ⁶²	Vives-Corrons JL...Badell I	34845540	2022
19	Molecular genetic testing enabled the diagnosis of otherwise undiagnosable cases of pyruvate kinase deficiency. ⁶²	Chueh HW...Kim N	34281465	2022
20	First report of successful treatment for hemoglobin Bristol-Alesha by hemopoietic stem cell transplantation. ⁶²	Li S...Jiang S	34851438	2022
21	Clinical and genetic diagnosis of thirteen Japanese patients with hereditary spherocytosis. ⁶²	Yamamoto KS...Kanno H	35022413	2022
22	New KCNN4 Variants Associated With Anemia: Stomatocytosis Without Erythrocyte Dehydration. ⁶²	Allegrini B...Guizouarn H	36003639	2022
23	Prevalence of transfusion-transmitted infections in multiple blood transfusion-dependent thalassemic patients in Asia: A systemic review. ⁶²	Riaz M...Akram M	35452334	2022
24	Effect of primary lesions in cytoskeleton proteins on red cell membrane stability in patients with hereditary spherocytosis. ⁶²	Vercellati C...Fermo E	36035481	2022
25	Challenges of Managing Multiple Myeloma Patients with Sickle Cell Disease: A Case Report and Review of Literature. ⁶²	Bou Zerdan M...Chaulagain CP	34963677	2021
26	Molecular and phenotype characterization of an elongated β-globin variant produced by HBB:C.313delA. ⁶²	Lin W...Lao J	34271589	2021
27	Infantile Pyknocytosis in a Premature Dichorionic Diamniotic Twin. ⁶²	Spoorenberg ME...de Kok JB	33235153	2021
28	Adolescent with Alport syndrome and congenital hemolytic anemia. ⁶²	Garcia Maset L...Ortega Lopez P	34158190	2021
29	Combining microfluidics with machine learning algorithms for RBC classification in rare hereditary hemolytic anemia. ⁶²	Rizzuto V...Samitier J	34193899	2021
30	Six novel variants in the PKLR gene associated with pyruvate kinase deficiency in Argentinian patients. ⁶²	Milanesio B...Feliu-Torres A	33631127	2021
31	CMV, B and C hepatitis among multi-transfused hereditary hemolytic Anemia children: an updated Egyptian experience. ⁶²	Sherief LM...Sherbiny HS	34039385	2021
32	VPS4A mutation in syndromic congenital hemolytic anemia without obvious signs of dyserythropoiesis. ⁶²	Lunati A...Mansour-Hendili L	33460484	2021
33	Screening tools for hereditary hemolytic anemia: new concepts and strategies. ⁶²	Fermo E...Bianchi P	33543663	2021
34	Characterization of hereditary red blood cell membranopathies using combined targeted next-generation sequencing and osmotic gradient ektacytometry. ⁶²	Vives-Corrons JL...Ancochea A	33074480	2021
35	Partial Splenectomy for a Sizeable Cavernous Hemangioma: Case Report and a Review of the Literature. ⁶²	Lazaar H...El Harroudi T	33633911	2021
36	Compound Heterozygosity for KLF1 Mutations Causing Hemolytic Anemia in Children: A Case Report and Literature Review. ⁶²	Xu L...Shang X	34249106	2021
37	[Diagnosis of congenital hemolytic anemia by comprehensive gene analysis: significance and limitations]. ⁶²	Kanno H...Ogura H	34248124	2021
38	How I approach hereditary hemolytic anemia and splenectomy. ⁶²	Rothman JA...Kalfa TA	32391969	2020
39	Novel COL4A1 mutations identified in infants with congenital hemolytic anemia in association with brain malformations. ⁶²	Ogura H...Kanno H	33298904	2020
40	Congenital Hemolytic Anemia Because of Glucose Phosphate Isomerase Deficiency: Identification of 2 Novel Missense Mutations in the GPI Gene. ⁶²	See WQ...Ha SY	31415279	2020
41	Epidemiological Study of Hereditary Hemolytic Anemia in the Korean Pediatric Population during 1997-2016: a Nationwide Retrospective Cohort Study. ⁶²	Shim YJ...Red Blood Cell Disorder Working Party of the Korean Society of Hematology	32830468	2020
42	A novel PIEZO1 mutation in a patient with dehydrated hereditary stomatocytosis: a case report and a brief review of literature. ⁶²	Zama D...Pession A	32703298	2020
43	Exome sequencing for diagnosis of congenital hemolytic anemia. ⁶²	Mansour-Hendili L...Galacteros F	32641076	2020
44	Leukocyte telomere length in patients with transfusion-dependent thalassemia. ⁶²	Nanthatanti N...Chattipakorn N	32487251	2020
45	Genotype-phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency. ⁶²	Bianchi P...Grace RFF	32043619	2020
46	Heterogeneous phenotype of Hereditary Xerocytosis in association with PIEZO1 variants. ⁶²	de Meira Oliveira P...Sitnik R	32109669	2020
47	Mechanosensitive Piezo1 ion channel protein (PIEZO1 gene): update and extended mutation analysis of hereditary xerocytosis in India. ⁶²	More TA...Kedar PS	32112123	2020
48	Interplay of erythropoietin, fibroblast growth factor 23, and erythroferrone in patients with hereditary hemolytic anemia. ⁶²	van Vuren AJ...van Beers EJ	32324886	2020
49	How will next generation sequencing (NGS) improve the diagnosis of congenital hemolytic anemia? ⁶²	Bianchi P...Fermo E	32355712	2020
50	Rapid Identification of Biallelic SPTB Mutation in a Neonate with Severe Congenital Hemolytic Anemia and Liver Failure. ⁶²	Richmond CM...Brown N	32256302	2020

Sources

Genes for Congenital Hemolytic Anemia

Genes related to Congenital Hemolytic Anemia (1 elite genes):

(show all 38)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	SPTA1	Spectrin Alpha, Erythrocytic 1	Protein Coding	432.82	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴
2	G6PD	Glucose-6-Phosphate Dehydrogenase	Protein Coding	57.04	Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	20099666 10645652
3	ATP11C	ATPase Phospholipid Transporting 11C	Protein Coding	22.86	DISEASES inferred ¹⁴ GeneCards inferred via : Publications Summaries (show sections)
4	TPI1	Triosephosphate Isomerase 1	Protein Coding	21.12	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders (show sections)	9842650
5	PKLR	Pyruvate Kinase L/R	Protein Coding	16.02	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	9160692
6	SPTB	Spectrin Beta, Erythrocytic	Protein Coding	15.43	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	8813717
7	GPI	Glucose-6-Phosphate Isomerase	Protein Coding	13.68	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	8822954 12737943 9616041
8	ADA	Adenosine Deaminase	Protein Coding	13.43	DISEASES inferred ¹⁴ GeneCards inferred via : Summaries (show sections)
9	HP	Haptoglobin	Protein Coding	11.9	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	1962749
10	HBE1	Hemoglobin Subunit Epsilon 1	Protein Coding	9.32	DISEASES inferred ¹⁴
11	HBB	Hemoglobin Subunit Beta	Protein Coding	8.89	DISEASES inferred ¹⁴
12	SEC23B	SEC23 Homolog B, COPII Coat Complex Component	Protein Coding	8.43	DISEASES inferred ¹⁴
13	BCL11A	BCL11 Transcription Factor A	Protein Coding	8.42	DISEASES inferred ¹⁴
14	TF	Transferrin	Protein Coding	8.41	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	17379103
15	CDAN1	Codanin 1	Protein Coding	8.2	DISEASES inferred ¹⁴
16	KLF1	KLF Transcription Factor 1	Protein Coding	8.17	DISEASES inferred ¹⁴
17	HBD	Hemoglobin Subunit Delta	Protein Coding	8.08	DISEASES inferred ¹⁴
18	ANK1	Ankyrin 1	Protein Coding	8.04	DISEASES inferred ¹⁴
19	EPB42	Erythrocyte Membrane Protein Band 4.2	Protein Coding	7.93	DISEASES inferred ¹⁴
20	CYB5R3	Cytochrome B5 Reductase 3	Protein Coding	7.89	DISEASES inferred ¹⁴
21	MIA2	MIA SH3 Domain ER Export Factor 2	Protein Coding	7.82	DISEASES inferred ¹⁴ ¹⁴
22	HBQ1	Hemoglobin Subunit Theta 1	Protein Coding	7.81	DISEASES inferred ¹⁴
23	EPB41	Erythrocyte Membrane Protein Band 4.1	Protein Coding	7.74	DISEASES inferred ¹⁴
24	HBG2	Hemoglobin Subunit Gamma 2	Protein Coding	7.72	DISEASES inferred ¹⁴
25	SLC4A1	Solute Carrier Family 4 Member 1 (Diego Blood Group)	Protein Coding	7.7	DISEASES inferred ¹⁴
26	HBG1	Hemoglobin Subunit Gamma 1	Protein Coding	7.64	DISEASES inferred ¹⁴
27	CDIN1	CDAN1 Interacting Nuclease 1	Protein Coding	7.45	DISEASES inferred ¹⁴
28	HBA1	Hemoglobin Subunit Alpha 1	Protein Coding	7.29	DISEASES inferred ¹⁴
29	HAMP	Hepcidin Antimicrobial Peptide	Protein Coding	7.28	DISEASES inferred ¹⁴
30	HBA2	Hemoglobin Subunit Alpha 2	Protein Coding	7.28	DISEASES inferred ¹⁴
31	GATA1	GATA Binding Protein 1	Protein Coding	7.27	DISEASES inferred ¹⁴
32	GYPA	Glycophorin A (MNS Blood Group)	Protein Coding	7.27	DISEASES inferred ¹⁴
33	EPO	Erythropoietin	Protein Coding	7.23	DISEASES inferred ¹⁴
34	TFRC	Transferrin Receptor	Protein Coding	7.05	DISEASES inferred ¹⁴
35	CYB5A	Cytochrome B5 Type A	Protein Coding	6.98	DISEASES inferred ¹⁴
36	PIEZO1	Piezo Type Mechanosensitive Ion Channel Component 1	Protein Coding	6.89	DISEASES inferred ¹⁴
37	CD34	CD34 Molecule	Protein Coding	6.89	DISEASES inferred ¹⁴
38	ERFE	Erythroferrone	Protein Coding	6.88	DISEASES inferred ¹⁴

Sources

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

Sources

Expression for Congenital Hemolytic Anemia

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

Sources

Pathways for Congenital Hemolytic Anemia

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

#	Super pathways	Score	Top Affiliating Genes
1	Clear cell renal cell carcinoma pathways ⁷⁴	11.36	TPI1 PKLR GPI
2	Interaction between L1 and Ankyrins ⁶⁶	10.62	SPTB SPTA1 ANK1
3	Pentose Phosphate Pathway (Erythrocyte), Pharmacodynamics ⁶⁰ Show member pathways GDP-mannose biosynthesis ⁶¹ pentose phosphate pathway (oxidative branch) ⁶¹ pentose phosphate pathway (oxidative branch) I ⁶¹	10.47	GPI G6PD
4	Cori cycle ⁷⁴	10.03	TPI1 GPI G6PD
5	Methylene Blue Pathway, Pharmacodynamics ⁶⁰	9.76	G6PD CYB5R3

Sources

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

Sources for Congenital Hemolytic Anemia

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: CNG027 MIFTS: 48	Congenital Hemolytic Anemia Categories: Blood diseases, Fetal diseases, Genetic diseases, Immune diseases, Metabolic diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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