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MCID: HRD011
MIFTS: 58

Hereditary Spherocytosis

Categories: Blood diseases, Genetic diseases, Immune diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Hereditary Spherocytosis

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MalaCards integrated aliases for Hereditary Spherocytosis:

Name: Hereditary Spherocytosis 12 77 54 26 60 38 30 6 15 74
Congenital Spherocytic Hemolytic Anemia 12 77 54 26
Spherocytic Anemia 12 54 26
Congenital Spherocytosis 54 26
Spherocytosis, Type 1 26 74
Anemia, Hereditary Spherocytic Hemolytic 74
Minkowski Chauffard Syndrome 12
Minkowski-Chauffard Syndrome 77
Minkowski-Chauffard Disease 60
Spherocytosis, Hereditary 45
Spherocytosis Hereditary 56
Hs 26

Characteristics:

Orphanet epidemiological data:

60
hereditary spherocytosis
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-5/10000 (Germany),1-5/10000 (United States),1-5/10000 (Europe); Age of onset: All ages; Age of death: normal life expectancy;

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Immune diseases Blood diseases Skin diseases
See all MalaCards categories (disease lists)
ICD10: 34 35
Orphanet: 60  
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:12971
KEGG 38 H00230
ICD9CM 36 282.0
MeSH 45 D013103
NCIt 51 C97074
SNOMED-CT 69 55995005
ICD10 34 D58.0
MESH via Orphanet 46 C536356 D013103
ICD10 via Orphanet 35 D58.0
UMLS via Orphanet 75 C0037889 C0221409
Orphanet 60 ORPHA822
Sources

Summaries for Hereditary Spherocytosis

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NIH Rare Diseases : 54 Hereditary spherocytosis is a condition characterized by hemolytic anemia (when red blood cells are destroyed earlier than normal). Signs and symptoms can range from mild to severe and may include pale skin, fatigue, anemia, jaundice, gallstones, and/or enlargement of the spleen. Other symptoms of hemolytic anemia may include feeling that your heart is pounding or racing (palpitations), feeling dizzy, problems concentrating, and headaches. Some people with a severe form of hereditary spherocytosis may have short stature, delayed puberty, and skeletal abnormalities. The condition is caused by mutations in any of several genes, such as the ANK1, EPB42, SLC4A1, SPTA1, and SPTB genes. It is most commonly inherited in an autosomal dominant manner, but may be inherited in an autosomal recessive manner. There are different types of hereditary spherocytosis, which are distinguished by severity and genetic cause. Depending on severity, treatment may involve splenectomy, red cell transfusions, folic acid supplementation, and/or cholecystectomy.

MalaCards based summary : Hereditary Spherocytosis, also known as congenital spherocytic hemolytic anemia, is related to thalassemia and hemolytic anemia, and has symptoms including icterus An important gene associated with Hereditary Spherocytosis is SPTB (Spectrin Beta, Erythrocytic), and among its related pathways/superpathways are Cell surface interactions at the vascular wall and L1CAM interactions. The drugs Scopolamine and Lidocaine have been mentioned in the context of this disorder. Affiliated tissues include spleen, skin and heart, and related phenotypes are no effect and Decreased shRNA abundance (Z-score < -2)

Disease Ontology : 12 A congenital hemolytic anemia characterized by the production of red blood cells with a sphere shape, rather than the normal biconcave disk shape.

Genetics Home Reference : 26 Hereditary spherocytosis is a condition that affects red blood cells. People with this condition typically experience a shortage of red blood cells (anemia), yellowing of the eyes and skin (jaundice), and an enlarged spleen (splenomegaly). Most newborns with hereditary spherocytosis have severe anemia, although it improves after the first year of life. Splenomegaly can occur anytime from early childhood to adulthood. About half of affected individuals develop hard deposits in the gallbladder called gallstones, which typically occur from late childhood to mid-adulthood.

Wikipedia : 77 Hereditary spherocytosis is an abnormality of red blood cells, or erythrocytes. The disorder is caused... more...

Sources

Related Diseases for Hereditary Spherocytosis

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Diseases in the Hereditary Spherocytosis family:

Spherocytosis, Type 1 Spherocytosis, Type 3
Spherocytosis, Type 4 Spherocytosis, Type 5
Spherocytosis, Type 2 Epb42-Related Hereditary Spherocytosis

Diseases related to Hereditary Spherocytosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 304)
# Related Disease Score Top Affiliating Genes
1 thalassemia 31.2 HBG1 HFE UGT1A1
2 hemolytic anemia 30.9 ANK1 EPB42 G6PD PKLR SLC4A1 SPTA1
3 pyruvate kinase deficiency of red cells 30.7 G6PD PKLR
4 hereditary elliptocytosis 30.6 ADD2 ANK1 EPB41 GYPC SLC4A1 SPTA1
5 pyropoikilocytosis, hereditary 30.5 SPTA1 SPTB
6 sickle cell anemia 30.5 G6PD HBG1 UGT1A1
7 alpha-thalassemia 30.5 G6PD HBG1 UGT1A1
8 neonatal jaundice 30.5 G6PD PKLR SPTA1 UGT1A1
9 glucosephosphate dehydrogenase deficiency 30.5 G6PD UGT1A1
10 beta-thalassemia 30.4 G6PD HBG1 HFE RHD SPTB UGT1A1
11 kernicterus 30.3 G6PD SLC4A1 UGT1A1
12 anemia, autoimmune hemolytic 30.3 GYPA RHD
13 congenital hemolytic anemia 30.1 ANK1 G6PD HBG1 PKLR SEC23B SPTA1
14 malaria 29.7 DMTN G6PD GYPA GYPB GYPC PKLR
15 spherocytosis, type 2 12.3
16 epb42-related hereditary spherocytosis 12.2
17 spherocytosis, type 1 12.2
18 spherocytosis, type 4 12.2
19 spherocytosis, type 5 12.2
20 hidradenitis suppurativa 12.0
21 spherocytosis, type 3 12.0
22 trichomegaly 11.5
23 mesial temporal lobe epilepsy with hippocampal sclerosis 11.4
24 mucopolysaccharidosis, type vii 11.3
25 anemia, congenital dyserythropoietic, type iii 11.2
26 renal tubular acidosis, distal, autosomal dominant 11.2
27 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema 11.2
28 hinman syndrome 11.1
29 gilbert syndrome 10.5
30 multiple sclerosis 10.5
31 hemochromatosis, type 1 10.4
32 bilirubin metabolic disorder 10.4
33 juvenile hereditary hemochromatosis 10.4
34 vaginal discharge 10.4 GYPC SPTB
35 retinohepatoendocrinologic syndrome 10.4 CD47 GYPB RHD
36 chronic laryngitis 10.4 CD47 SLC4A1
37 hemoglobinopathy 10.4 HBG1 HFE UGT1A1
38 congenital nonspherocytic hemolytic anemia 10.4 G6PD PKLR
39 blood group incompatibility 10.3 G6PD RHD SLC4A1
40 hidradenitis 10.3
41 anemia, nonspherocytic hemolytic, due to g6pd deficiency 10.3 EPB41 G6PD
42 thrombosis 10.3
43 pancytopenia 10.3
44 splenic infarction 10.3
45 fetal erythroblastosis 10.2 GYPA RHD
46 hemosiderosis 10.2
47 sickle cell disease 10.2
48 gallbladder disease 1 10.2
49 cholelithiasis 10.2
50 cystic teratoma 10.2

Comorbidity relations with Hereditary Spherocytosis via Phenotypic Disease Network (PDN):


Deficiency Anemia

Graphical network of the top 20 diseases related to Hereditary Spherocytosis:



Diseases related to Hereditary Spherocytosis
Sources

Symptoms & Phenotypes for Hereditary Spherocytosis

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UMLS symptoms related to Hereditary Spherocytosis:


icterus

GenomeRNAi Phenotypes related to Hereditary Spherocytosis according to GeneCards Suite gene sharing:

27 (show all 16)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 9.92 ADD2 ANK1 BLOC1S6 CD47 DMTN EPB41
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 9.91 HBG1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-119 9.91 EPB41
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-14 9.91 EPB41
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 9.91 RHD
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 9.91 HBG1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-193 9.91 HBG1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 9.91 HBG1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.91 EPB41 RHD
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 9.91 RHD
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-28 9.91 EPB41 HBG1 RHD
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 9.91 EPB41
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-55 9.91 HBG1
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 9.91 HBG1
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-77 9.91 HBG1
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-84 9.91 HBG1

MGI Mouse Phenotypes related to Hereditary Spherocytosis:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.13 ADD2 ANK1 BLOC1S6 CD47 DMTN EPB41
2 homeostasis/metabolism MP:0005376 10 ADD2 ANK1 BLOC1S6 CD47 EPB41 EPB42
3 immune system MP:0005387 9.73 ADD2 ANK1 BLOC1S6 CD47 EPB41 EPB42
4 renal/urinary system MP:0005367 9.17 ADD2 ANK1 BLOC1S6 EPB41 SLC4A1 SPTA1
Sources

Drugs & Therapeutics for Hereditary Spherocytosis

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Drugs for Hereditary Spherocytosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 24)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Scopolamine Approved, Investigational Phase 2 51-34-3, 6533-68-2 5184
2
Lidocaine Approved, Vet_approved Phase 2 137-58-6 3676
3 Bromides Phase 2
4 Muscarinic Antagonists Phase 2
5 Adjuvants, Anesthesia Phase 2
6 Central Nervous System Depressants Phase 2
7 Gastrointestinal Agents Phase 2
8 Diuretics, Potassium Sparing Phase 2
9 Neurotransmitter Agents Phase 2
10 Anesthetics Phase 2
11 Anti-Arrhythmia Agents Phase 2
12 Cholinergic Antagonists Phase 2
13 Antiemetics Phase 2
14 Parasympatholytics Phase 2
15 Mydriatics Phase 2
16 Cholinergic Agents Phase 2
17 Peripheral Nervous System Agents Phase 2
18 Sodium Channel Blockers Phase 2
19 Autonomic Agents Phase 2
20 Anticonvulsants Phase 2
21 Butylscopolammonium Bromide Phase 2
22 Anesthetics, Local Phase 2
23 Papaya Approved Not Applicable
24 Antioxidants Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Time Study for Biometry Measurements With the Lenstar and IntraOcularLens (IOL) Master 500 Completed NCT01550939 Phase 4
2 Oral Hyoscine Butyl Bromide With Cervical Lidocaine Cream in Reducing Pain During Hysterosalpingography Completed NCT02710305 Phase 2 oral hyoscine butyl bromide tablets plus lidocaine cream;oral placebo tablets plus placebo cream
3 Feasibility Study to Evaluate the Safety of Topically Applied Revera in Subjects With Venous Leg Ulcers Completed NCT00823446 Phase 1
4 GDF 15 in Sickle Cell Disease and Hereditary Spherocytosis Unknown status NCT01201135
5 Hemolysis in Patients With Hereditary Spherocytosis (HS) Unknown status NCT01201174 Not Applicable
6 Splenic Function After Spleen-Preserving Distal Pancreatectomy With Excision of Splenic Artery and Vein Unknown status NCT00778362
7 The Dallas Hereditary Spherocytosis Cohort Study Terminated NCT01141621
8 Single Incision Versus Standard Laparoscopic Splenectomy Withdrawn NCT01276561 Not Applicable
9 Distal Pancreatectomy With Partial Splenectomy for Pancreatic Tumors Withdrawn NCT01412684

Search NIH Clinical Center for Hereditary Spherocytosis

Cochrane evidence based reviews: spherocytosis, hereditary

Sources

Genetic Tests for Hereditary Spherocytosis

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Genetic tests related to Hereditary Spherocytosis:

# Genetic test Affiliating Genes
1 Hereditary Spherocytosis 30
Sources

Anatomical Context for Hereditary Spherocytosis

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MalaCards organs/tissues related to Hereditary Spherocytosis:

42
Spleen, Skin, Heart, Testes, Eye, Bone, Liver
Sources

Publications for Hereditary Spherocytosis

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Articles related to Hereditary Spherocytosis:

(show top 50) (show all 933)
# Title Authors Year
1
Hereditary spherocytosis presenting with branch retinal artery occlusion. ( 30418630 )
2019
2
Next-generation sequencing identified a novel SPTB frameshift insertion causing hereditary spherocytosis in China. ( 29961904 )
2019
3
Severe nondominant hereditary spherocytosis in an infant with coinheritance of three rare alpha-spectrin gene defects. ( 30255572 )
2019
4
Response to Makino: 'Hereditary spherocytosis presenting with branch retinal artery occlusion'. ( 30395319 )
2019
5
Nano- and microscale mechanical properties of erythrocytes in hereditary spherocytosis. ( 30503563 )
2019
6
Ankyrin Mutations in Hereditary Spherocytosis. ( 30602149 )
2019
7
Correction to: Mutational characteristics of ANK1 and SPTB genes in hereditary spherocytosis. ( 30633350 )
2019
8
Whole exome sequencing identified a novel mutation (p.Ala1884Pro) of β-spectrin in a Chinese family with hereditary spherocytosis. ( 30690801 )
2019
9
Value of combined spherocytose osmotic and EMA tests in the diagnosis of hereditary spherocytosis. ( 30730613 )
2019
10
The hemostasis system in children with hereditary spherocytosis. ( 30763822 )
2019
11
A de novo ANK1 mutation associated to hereditary spherocytosis: a case report. ( 30777044 )
2019
12
Hereditary Spherocytosis Presenting as Diffuse Bone Marrow Activation and Splenomegaly on PSMA-Targeted 18F-DCFPyL PET/CT. ( 30789396 )
2019
13
Novel compound heterozygous mutations in the SPTA1 gene, causing hereditary spherocytosis in a neonate with Coombs‑negative hemolytic jaundice. ( 30816434 )
2019
14
Identification of red blood cell membrane defects in a patient with hereditary spherocytosis using next‑generation sequencing technology and matrix‑assisted laser desorption/ionization time‑of‑flight mass spectrometry. ( 30896804 )
2019
15
Hereditary spherocytosis caused by copy number variation in SPTB gene identified through targeted next-generation sequencing. ( 30903564 )
2019
16
Blood cell parameters for screening and diagnosis of hereditary spherocytosis. ( 30945356 )
2019
17
Mild Hereditary Spherocytosis without Accompanying Hereditary Haemochromatosis: An Unrecognised Cause of Iron Overload. ( 30965318 )
2019
18
Two novel ANK1 loss-of-function mutations in Chinese families with hereditary spherocytosis. ( 31016877 )
2019
19
Daily supplementation with 5 mg of folic acid in Brazilian patients with hereditary spherocytosis. ( 31076457 )
2019
20
[Clinical characteristics and genetic analysis of hereditary spherocytosis caused by mutations of ANK1 and SPTB genes]. ( 31014431 )
2019
21
Hereditary spherocytosis presenting with branch retinal artery occlusion. ( 30247736 )
2018
22
CD44 as a Potential Screening Marker for Preliminary Differentiation Between Congenital Dyserythropoietic Anemia Type II and Hereditary Spherocytosis. ( 27784127 )
2018
23
An Infant With Unusually High Unconjugated Hyperbilirubinemia Due to Coexistence of Hereditary Spherocytosis and Gilbert Syndrome. ( 29200157 )
2018
24
Analysis of erythrocyte membrane proteins in patients with hereditary spherocytosis and other types of haemolytic anaemia. ( 29623813 )
2018
25
Cryohemolysis, erythrocyte osmotic fragility, and supplementary hematimetric indices in the diagnosis of hereditary spherocytosis. ( 29662857 )
2018
26
Quantitative measurement of red cell surface protein expression reveals new biomarkers for hereditary spherocytosis. ( 29746727 )
2018
27
Are the Reference Ranges and Cutoff Values of Eosin-5'-Maleimide (EMA) Binding Test for Hereditary Spherocytosis Specific for Each Age Group? ( 29945336 )
2018
28
Analysis of the causes of the misdiagnosis of hereditary spherocytosis. ( 30015979 )
2018
29
Moyamoya disease associated with hereditary spherocytosis. ( 30038116 )
2018
30
Flow Cytometric Eosin-5'-Maleimide Test is a Sensitive Screen for Hereditary Spherocytosis. ( 30127559 )
2018
31
A Case of Glaucoma in Hereditary Spherocytosis. ( 30180017 )
2018
32
Screening of hereditary spherocytosis and pyruvate kinase deficiency by automated blood count using erythrocytic and reticulocytic parameters. ( 30184319 )
2018
33
Tokyo-1 Mutation: Hereditary Spherocytosis in a Hispanic Newborn Presenting as Early Onset Severe Hyperbilirubinemia. ( 30207817 )
2018
34
Laparoscopic splenectomy for hereditary spherocytosis. A case series and review of the literature. ( 30221630 )
2018
35
Spectrum of Ankyrin Mutations in Hereditary Spherocytosis: A Case Report and Review of the Literature. ( 30227413 )
2018
36
Extramedullary hematopoiesis of the sphenoid sinus associated with hereditary spherocytosis: A case report. ( 30262344 )
2018
37
Old and new insights into the diagnosis of hereditary spherocytosis. ( 30306078 )
2018
38
Flow Cytometric Analysis of Erythrocytes Osmotic Fragility in Hereditary Spherocytosis: A Case-Controlled Study Evaluating the Best Anticoagulant, Sample Pre-Treatment and NaCl Concentration for Reliable Screening of this Red Blood Cell Membrane Disorder. ( 30328264 )
2018
39
The fluid membrane determines mechanics of erythrocyte extracellular vesicles and is softened in hereditary spherocytosis. ( 30470753 )
2018
40
Hereditary spherocytosis: Retrospective evaluation of 65 children. ( 30511538 )
2018
41
Eosin-5'-maleimide binding test-Do we use appropriate reference values to detect hereditary spherocytosis in neonates? ( 30548189 )
2018
42
Surgical management of hereditary spherocytosis Current strategies. ( 30665218 )
2018
43
Laparoscopic splenectomy for hereditary spherocytosis. A case series and review of the literature. ( 30665220 )
2018
44
Flow cytometric analysis of patients with hereditary spherocytosis - an Indian scenario. ( 28914173 )
2018
45
Osmotic gradient ektacytometry: A valuable screening test for hereditary spherocytosis and other red blood cell membrane disorders. ( 29024480 )
2018
46
Identification of a de novo ANK1 mutation in a Chinese family with hereditary spherocytosis. ( 29099659 )
2018
47
Genetic diagnosis and pathogenic analysis of an atypical hereditary spherocytosis combined with UGT1A1 partial deficiency: A case report. ( 29115431 )
2018
48
Ventricular assist device implantation in a young patient with non-compaction cardiomyopathy and hereditary spherocytosis. ( 29140423 )
2018
49
Erythrophagocytosis by T-cell lymphoma cells in a patient with hereditary spherocytosis post-splenectomy. ( 29143312 )
2018
50
Utility of mean sphered cell volume and mean reticulocyte volume for the diagnosis of hereditary spherocytosis. ( 29338606 )
2018
Sources

Variations for Hereditary Spherocytosis

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ClinVar genetic disease variations for Hereditary Spherocytosis:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SPTB NM_001024858.3(SPTB): c.6095T> C (p.Leu2032Pro) single nucleotide variant Pathogenic rs1555366607 GRCh38 Chromosome 14, 64767787: 64767787
2 SPTB NM_001024858.3(SPTB): c.6095T> C (p.Leu2032Pro) single nucleotide variant Pathogenic rs1555366607 GRCh37 Chromosome 14, 65234505: 65234505
3 SPTB NM_001355437.2(SPTB): c.6194_6195dup (p.Ala2066Leufs) duplication Likely pathogenic rs1555366592 GRCh37 Chromosome 14, 65234405: 65234406
4 SPTB NM_001355437.2(SPTB): c.6194_6195dup (p.Ala2066Leufs) duplication Likely pathogenic rs1555366592 GRCh38 Chromosome 14, 64767687: 64767688
5 SPTB NM_001355436.2(SPTB): c.4063G> T (p.Glu1355Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 14, 64782493: 64782493
6 SPTB NM_001355436.2(SPTB): c.4063G> T (p.Glu1355Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 14, 65249211: 65249211
Sources

Expression for Hereditary Spherocytosis

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Search GEO for disease gene expression data for Hereditary Spherocytosis.
Sources

Pathways for Hereditary Spherocytosis

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Pathways related to Hereditary Spherocytosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Cell surface interactions at the vascular wall 67
Show member pathways
 11.71 CD47 GYPA GYPB GYPC
2
L1CAM interactions 67
Show member pathways
 11.59 ANK1 SPTA1 SPTB
3
Malaria 38
10.82 GYPA GYPB GYPC
4
Miscellaneous transport and binding events 67
10.54 ADD2 DMTN
5
Interaction between L1 and Ankyrins 67
10.28 ANK1 SPTA1 SPTB
Sources

GO Terms for Hereditary Spherocytosis

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Cellular components related to Hereditary Spherocytosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 9.98 CD47 GYPB GYPC HFE RHD SLC4A1
2 cytoskeleton GO:0005856 9.95 ADD2 ANK1 DMTN EPB41 EPB42 SPTA1
3 cell cortex GO:0005938 9.63 EPB41 SPTA1 SPTB
4 cytoplasmic side of plasma membrane GO:0009898 9.46 ANK1 EPB41 G6PD SPTA1
5 spectrin GO:0008091 9.37 SPTA1 SPTB
6 spectrin-associated cytoskeleton GO:0014731 9.35 ANK1 DMTN EPB41 SPTA1 SPTB
7 intrinsic component of the cytoplasmic side of the plasma membrane GO:0031235 9.32 SPTA1 SPTB
8 cortical cytoskeleton GO:0030863 9.1 DMTN EPB41 EPB42 GYPC SLC4A1 SPTA1
9 membrane GO:0016020 10.19 ADD2 ANK1 BLOC1S6 CD47 DMTN EPB41

Biological processes related to Hereditary Spherocytosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ER to Golgi vesicle-mediated transport GO:0006888 9.73 ANK1 SEC23B SPTA1 SPTB
2 cytoskeleton organization GO:0007010 9.71 ANK1 DMTN EPB42 SPTB
3 actin cytoskeleton organization GO:0030036 9.67 ADD2 DMTN EPB41 SPTA1
4 protein-containing complex assembly GO:0065003 9.62 ADD2 DMTN EPB41 HFE
5 leukocyte migration GO:0050900 9.55 ADD2 CD47 GYPA GYPB GYPC
6 erythrocyte maturation GO:0043249 9.46 EPB42 G6PD
7 actin filament capping GO:0051693 9.43 DMTN SPTA1 SPTB
8 positive regulation of protein binding GO:0032092 9.26 ADD2 EPB41 HFE SPTA1
9 regulation of cell shape GO:0008360 8.92 DMTN EPB41 EPB42 SPTA1

Molecular functions related to Hereditary Spherocytosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 9.65 ADD2 DMTN EPB41 SPTA1 SPTB
2 actin filament binding GO:0051015 9.55 ADD2 BLOC1S6 DMTN SPTA1 SPTB
3 ankyrin binding GO:0030506 9.37 SLC4A1 SPTB
4 structural constituent of cytoskeleton GO:0005200 9.35 ANK1 EPB41 EPB42 SPTA1 SPTB
5 spectrin binding GO:0030507 8.92 ADD2 ANK1 DMTN EPB41
6 protein binding GO:0005515 10.22 ANK1 BLOC1S6 CD47 DMTN EPB41 EPB42
Sources

Sources for Hereditary Spherocytosis

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 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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