HS
MCID: HRD011
MIFTS: 56

Hereditary Spherocytosis (HS)

Categories: Blood diseases, Genetic diseases, Immune diseases, Rare diseases
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Aliases & Classifications for Hereditary Spherocytosis

MalaCards integrated aliases for Hereditary Spherocytosis:

Name: Hereditary Spherocytosis 11 19 42 58 75 28 5 14 71 31
Congenital Spherocytic Hemolytic Anemia 11 19 42 75
Spherocytic Anemia 11 19 42
Congenital Spherocytosis 19 42
Spherocytosis, Type 1 42 71
Anemia, Hereditary Spherocytic Hemolytic 71
Minkowski Chauffard Syndrome 11
Minkowski-Chauffard Syndrome 75
Minkowski-Chauffard Disease 58
Spherocytosis, Hereditary 43
Spherocytosis Hereditary 53
Hs 42

Characteristics:


Inheritance:

Autosomal dominant,Autosomal recessive 58

Prevelance:

1-5/10000 (Germany, United States, Europe) 58

Age Of Onset:

All ages 58

Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

Disease Ontology 11 DOID:12971
ICD9CM 34 282.0
MeSH 43 D013103
NCIt 49 C97074
SNOMED-CT 68 154795009
ICD10 31 D58.0
MESH via Orphanet 44 C536356 D013103
ICD10 via Orphanet 32 D58.0
UMLS via Orphanet 72 C0037889 C0221409
Orphanet 58 ORPHA822
UMLS 71 C0037889 C0221409 C2674218

Summaries for Hereditary Spherocytosis

MedlinePlus Genetics: 42 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.There are four forms of hereditary spherocytosis, which are distinguished by the severity of signs and symptoms. They are known as the mild form, the moderate form, the moderate/severe form, and the severe form. It is estimated that 20 to 30 percent of people with hereditary spherocytosis have the mild form, 60 to 70 percent have the moderate form, 10 percent have the moderate/severe form, and 3 to 5 percent have the severe form.People with the mild form may have very mild anemia or sometimes have no symptoms. People with the moderate form typically have anemia, jaundice, and splenomegaly. Many also develop gallstones. The signs and symptoms of moderate hereditary spherocytosis usually appear in childhood. Individuals with the moderate/severe form have all the features of the moderate form but also have severe anemia. Those with the severe form have life-threatening anemia that requires frequent blood transfusions to replenish their red blood cell supply. They also have severe splenomegaly, jaundice, and a high risk for developing gallstones. Some individuals with the severe form have short stature, delayed sexual development, and skeletal abnormalities.

MalaCards based summary: Hereditary Spherocytosis, also known as congenital spherocytic hemolytic anemia, is related to bilirubin metabolic disorder and thalassemia, and has symptoms including icterus An important gene associated with Hereditary Spherocytosis is SPTB (Spectrin Beta, Erythrocytic), and among its related pathways/superpathways are Interaction between L1 and Ankyrins and Miscellaneous transport and binding events. The drugs Papaya and Antioxidants have been mentioned in the context of this disorder. Affiliated tissues include spleen, skin and heart, and related phenotypes are increased red cell osmotic fragility and muscle weakness

GARD: 19 Hereditary spherocytosis is a condition characterized by hemolytic anemia (when red blood cells are destroyed earlier than normal). 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 genetic changes 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.

Orphanet: 58 Hereditary spherocytosis is a congenital hemolytic anemia with a wide clinical spectrum (from symptom-free carriers to severe hemolysis) characterized by anemia, variable jaundice, splenomegaly and cholelithiasis.

Disease Ontology: 11 A congenital hemolytic anemia characterized by the production of red blood cells with a sphere shape, rather than the normal biconcave disk shape.

Wikipedia: 75 Hereditary spherocytosis (HS) is a congenital hemolytic disorder, wherein a genetic mutation coding for... more...

Related Diseases for Hereditary Spherocytosis

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 327)
# Related Disease Score Top Affiliating Genes
1 bilirubin metabolic disorder 31.5 UGT1A1 SPTA1 RHD G6PD EPB42
2 thalassemia 31.4 UGT1A1 TFRC SLC4A1 HFE HBG1 G6PD
3 anemia, autoimmune hemolytic 31.4 RHD GYPA G6PD
4 pyropoikilocytosis, hereditary 31.4 SPTB SPTA1
5 deficiency anemia 31.3 TFRC SPTB SPTA1 SLC4A1 RHD HFE
6 gilbert syndrome 31.3 UGT1A1 SPTA1 SLC4A1 HFE G6PD
7 hemolytic anemia 31.3 UGT1A1 TFRC SPTB SPTA1 SLC4A1 RHD
8 neonatal jaundice 31.1 UGT1A1 RHD G6PD
9 glucosephosphate dehydrogenase deficiency 31.1 UGT1A1 SPTA1 SLC4A1 GYPA G6PD
10 pyruvate kinase deficiency of red cells 31.1 SPTA1 G6PD EPB42
11 congenital hemolytic anemia 31.0 TFRC SPTB SPTA1 SLC4A1 HBG1 GYPA
12 sickle cell anemia 31.0 UGT1A1 TFRC RHD HBG1 GYPA G6PD
13 iron metabolism disease 31.0 TFRC HFE G6PD
14 sickle cell disease 30.9 UGT1A1 HBG1 G6PD
15 beta-thalassemia 30.8 UGT1A1 TFRC SPTB SPTA1 SLC4A1 RHD
16 congenital dyserythropoietic anemia 30.8 SLC4A1 RHD HFE GYPB CD47
17 hemoglobinopathy 30.8 TFRC HFE HBG1 GYPA G6PD
18 hereditary elliptocytosis 30.8 SPTB SPTA1 SLC4A1 RHD GYPB GYPA
19 kernicterus 30.8 UGT1A1 SLC4A1 RHD G6PD
20 iron deficiency anemia 30.8 TFRC HFE G6PD
21 alpha-thalassemia 30.7 UGT1A1 TFRC SLC4A1 HFE HBG1 G6PD
22 beta-thalassemia major 30.6 TFRC HFE HBG1 GYPA
23 blood group incompatibility 30.6 UGT1A1 SLC4A1 RHD G6PD
24 microcytic anemia 30.5 TFRC HFE G6PD
25 rh isoimmunization 30.3 RHD G6PD
26 beta-thalassemia intermedia 30.3 TFRC HFE HBG1
27 erythroleukemia 30.3 TFRC SLC4A1 HBG1
28 plasmodium vivax malaria 30.3 TFRC GYPA G6PD
29 neonatal anemia 30.3 TFRC RHD
30 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema 30.1 SPTA1 SLC4A1 GYPA EPB42 EPB41 ANK1
31 malaria 30.1 TFRC SPTA1 SLC4A1 RHD GYPB GYPA
32 spherocytosis, type 2 11.8
33 spherocytosis, type 1 11.7
34 spherocytosis, type 4 11.7
35 spherocytosis, type 5 11.7
36 spherocytosis, type 3 11.7
37 epb42-related hereditary spherocytosis 11.2
38 trichomegaly 11.1
39 8p11.2 deletion syndrome 11.0
40 splenomegaly 10.9
41 gallbladder disease 1 10.8
42 cholelithiasis 10.7
43 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.6
44 erythema infectiosum 10.5
45 hemochromatosis, type 1 10.5
46 aplastic anemia 10.5
47 pancytopenia 10.4
48 splenic infarction 10.4
49 glutamate-cysteine ligase deficiency 10.4 SPTA1 SLC4A1
50 spinocerebellar ataxia 5 10.4 SPTB EPB41 ANK1

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

Symptoms & Phenotypes for Hereditary Spherocytosis

Human phenotypes related to Hereditary Spherocytosis:

58 30 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 increased red cell osmotic fragility 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0005502
2 muscle weakness 58 30 Frequent (33%) Frequent (79-30%)
HP:0001324
3 splenomegaly 58 30 Frequent (33%) Frequent (79-30%)
HP:0001744
4 hepatomegaly 58 30 Frequent (33%) Frequent (79-30%)
HP:0002240
5 pallor 58 30 Frequent (33%) Frequent (79-30%)
HP:0000980
6 cholelithiasis 58 30 Frequent (33%) Frequent (79-30%)
HP:0001081
7 jaundice 58 30 Frequent (33%) Frequent (79-30%)
HP:0000952
8 reticulocytosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0001923
9 hyperbilirubinemia 58 30 Frequent (33%) Frequent (79-30%)
HP:0002904
10 hypercoagulability 58 30 Frequent (33%) Frequent (79-30%)
HP:0100724
11 spherocytosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0004444
12 hypofibrinogenemia 58 30 Frequent (33%) Frequent (79-30%)
HP:0011900
13 spontaneous hemolytic crises 58 30 Frequent (33%) Frequent (79-30%)
HP:0005525
14 increased mean corpuscular hemoglobin concentration 58 30 Frequent (33%) Frequent (79-30%)
HP:0025548
15 ataxia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001251
16 fever 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001945
17 abdominal pain 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002027
18 myalgia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003326
19 maculopapular exanthema 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0040186
20 chills 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0025143
21 extramedullary hematopoiesis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001978
22 restrictive cardiomyopathy 30 Occasional (7.5%) HP:0001723
23 growth delay 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001510
24 skin ulcer 58 30 Very rare (1%) Very rare (<4-1%)
HP:0200042
25 gout 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001997
26 abdominal distention 58 30 Very rare (1%) Very rare (<4-1%)
HP:0003270
27 anemia 58 Frequent (79-30%)
28 restrictive heart failure 58 Occasional (29-5%)

UMLS symptoms related to Hereditary Spherocytosis:


icterus

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.14 ADD1 ADD2 ANK1 BLOC1S6 CD47 DMTN
2 no effect GR00402-S-2 10.14 ADD1 ADD2 BLOC1S6 DMTN EPB41 GYPA

MGI Mouse Phenotypes related to Hereditary Spherocytosis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10 ADD1 ADD2 ANK1 BLOC1S6 CD47 EPB41
2 liver/biliary system MP:0005370 9.8 ADD2 ANK1 EPB41 HFE SPTA1 SPTB
3 immune system MP:0005387 9.73 ADD2 ANK1 BLOC1S6 CD47 EPB41 EPB42
4 hematopoietic system MP:0005397 9.55 ADD1 ADD2 ANK1 BLOC1S6 CD47 DMTN

Drugs & Therapeutics for Hereditary Spherocytosis

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Papaya Approved
2 Antioxidants

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Oxidative Stress Contributes to Hemolysis in Patients With Hereditary Spherocytosis (HS) and Can be Ameliorated by Fermented Papaya Preparation (FPP) Unknown status NCT01201174
2 The Impact of Growth Differentiating Factor (GDF) 15 in Sickle Cell Disease and Hereditary Spherocytosis Unknown status NCT01201135
3 Relationships Between Hemolysis, Erythrosis, Circulating Microparticles and Vascular Function in Patients With Hereditary Spherocytosis Recruiting NCT04451785
4 The Dallas Hereditary Spherocytosis Cohort Study Terminated NCT01141621
5 Single Incision Versus Standard Laparoscopic Splenectomy Withdrawn NCT01276561

Search NIH Clinical Center for Hereditary Spherocytosis

Cochrane evidence based reviews: spherocytosis, hereditary

Genetic Tests for Hereditary Spherocytosis

Genetic tests related to Hereditary Spherocytosis:

# Genetic test Affiliating Genes
1 Hereditary Spherocytosis 28

Anatomical Context for Hereditary Spherocytosis

Organs/tissues related to Hereditary Spherocytosis:

MalaCards : Spleen, Skin, Heart, Bone Marrow, Spinal Cord, Bone, Adrenal Gland

Publications for Hereditary Spherocytosis

Articles related to Hereditary Spherocytosis:

(show top 50) (show all 2092)
# Title Authors PMID Year
1
Density, heterogeneity and deformability of red cells as markers of clinical severity in hereditary spherocytosis. 62 5
31147440 2020
2
The Complexity of Genotype-Phenotype Correlations in Hereditary Spherocytosis: A Cohort of 95 Patients: Genotype-Phenotype Correlation in Hereditary Spherocytosis. 62 5
31723846 2019
3
Aberrant splicing contributes to severe α-spectrin-linked congenital hemolytic anemia. 62 5
31038472 2019
4
The Spectrum of SPTA1-Associated Hereditary Spherocytosis. 62 5
31333484 2019
5
Combination of two mutant alpha spectrin alleles underlies a severe spherocytic hemolytic anemia. 62 5
8941647 1996
6
Clinical utility of next-generation sequencing in the diagnosis of hereditary haemolytic anaemias. 5
27292444 2016
7
Hereditary spherocytosis and the (TA)nTAA polymorphism of UGT1A1 gene promoter region--a comparison of the bilirubin plasmatic levels in the different clinical forms. 53 62
19931474 2010
8
Band 3 Edmonton I, a novel mutant of the anion exchanger 1 causing spherocytosis and distal renal tubular acidosis. 53 62
20028337 2010
9
Beta-spectrinBari: a truncated beta-chain responsible for dominant hereditary spherocytosis. 53 62
19608679 2009
10
Compound mutations in human anion exchanger 1 are associated with complete distal renal tubular acidosis and hereditary spherocytosis. 53 62
19625994 2009
11
Interaction of anion exchanger 1 and glycophorin A in human erythroleukaemic K562 cells. 53 62
19438409 2009
12
Coinheritance of hereditary spherocytosis and reversibility of cirrhosis in a young female patient with hereditary hemochromatosis. 53 62
19380292 2009
13
The role of oxidative stress in hemolytic anemia. 53 62
18991647 2008
14
Hereditary spherocytosis. 53 62
18940465 2008
15
Band 3 Courcouronnes (Ser667Phe): a trafficking mutant differentially rescued by wild-type band 3 and glycophorin A. 53 62
18174378 2008
16
Autoimmune hemolytic anemia. 53 62
18537006 2008
17
A complex splicing defect associated with homozygous ankyrin-deficient hereditary spherocytosis. 53 62
17327413 2007
18
Otopalatodigital syndrome type 2 in two siblings with a novel filamin A 629G>T mutation: clinical, pathological, and molecular findings. 53 62
17431908 2007
19
Pathogenic proline mutation in the linker between spectrin repeats: disease caused by spectrin unfolding. 53 62
17192394 2007
20
Incidence and causes of severe neonatal hyperbilirubinemia in Canada. 53 62
16966660 2006
21
[Polymorphism analysis of G199A, Ncol in ANK1 and Memphis I in SLC4A1 genes in Mexican healthy individuals and subjects affected with hereditary spherocytosis]. 53 62
17128827 2006
22
(AC)n microsatellite polymorphism and 14-nucleotide deletion in exon 42 ankyrin-1 gene in several families with hereditary spherocytosis in a population of South-Western Poland. 53 62
16518602 2006
23
Stiffness of normal and pathological erythrocytes studied by means of atomic force microscopy. 53 62
16443279 2006
24
[Molecular mechanism of hereditary spherocytosis]. 53 62
16617750 2006
25
Kernicterus associated with hereditary spherocytosis and UGT1A1 promoter polymorphism. 53 62
16735790 2006
26
Hematologically important mutations: ankyrin variants in hereditary spherocytosis. 53 62
16223590 2005
27
DNA methylation in promoter regions of red cell membrane protein genes in healthy individuals and patients with hereditary membrane disorders. 53 62
16158818 2005
28
Band 3Tambaú: a de novo mutation in the AE1 gene associated with hereditary spherocytosis. Implications for anion exchange and insertion into the red blood cell membrane. 53 62
15813913 2005
29
Hereditary spherocytosis in association with severe G6PD deficiency: report of an unusual case. 53 62
15149895 2004
30
Defects in processing and trafficking of the AE1 Cl-/HCO3- exchanger associated with inherited distal renal tubular acidosis. 53 62
15067510 2004
31
Hereditary spherocytosis associated with mutations in HFE gene. 53 62
12961032 2003
32
Simultaneous (AC)n microsatellite polymorphism analysis and single-stranded conformation polymorphism screening is an efficient strategy for detecting ankyrin-1 mutations in dominant hereditary spherocytosis. 53 62
12899723 2003
33
Erythrocyte membrane proteins in healthy Saudis and patients with hereditary spherocytosis and hereditary elliptocytosis. 53 62
16985305 2003
34
[Hereditary spherocytosis -- prevalence of erythrocyte membrane protein deficiency]. 53 62
12828006 2003
35
Evidence that the red cell skeleton protein 4.2 interacts with the Rh membrane complex member CD47. 53 62
12393467 2003
36
Anemia and the liver. Hepatobiliary manifestations of anemia. 53 62
12516198 2002
37
Absence of CD47 in protein 4.2-deficient hereditary spherocytosis in man: an interaction between the Rh complex and the band 3 complex. 53 62
12176912 2002
38
Kallmann syndrome in a patient with congenital spherocytosis and an interstitial 8p11.2 deletion. 53 62
11920837 2002
39
Molecular basis of red cell membrane disorders. 53 62
12432217 2002
40
Genetic interactions in the pathogenesis of neonatal hyperbilirubinemia: Gilbert's Syndrome and glucose-6-phosphate dehydrogenase deficiency. 53 62
11803413 2001
41
Erythrocyte ankyrin promoter mutations associated with recessive hereditary spherocytosis cause significant abnormalities in ankyrin expression. 53 62
11527968 2001
42
Ankyrin gene mutations in japanese patients with hereditary spherocytosis. 53 62
11372755 2001
43
Defective spectrin integrity and neonatal thrombosis in the first mouse model for severe hereditary elliptocytosis. 53 62
11154235 2001
44
Trafficking and folding defects in hereditary spherocytosis mutants of the human red cell anion exchanger. 53 62
11208088 2000
45
Low frequency of ankyrin mutations in hereditary spherocytosis: identification of three novel mutations. 53 62
11102985 2000
46
The human ankyrin-1 gene is selectively transcribed in erythroid cell lines despite the presence of a housekeeping-like promoter. 53 62
10910934 2000
47
Increased methyl esterification of altered aspartyl residues in erythrocyte membrane proteins in response to oxidative stress. 53 62
10880963 2000
48
Abnormalities of erythrocyte membrane proteins in Korean patients with hereditary spherocytosis. 53 62
10895969 2000
49
The red blood cell band 3 variant (band 3Biceêtrel:R490C) associated with dominant hereditary spherocytosis causes defective membrane targeting of the molecule and a dominant negative effect. 53 62
10766130 1999
50
Targeted disruption of the beta adducin gene (Add2) causes red blood cell spherocytosis in mice. 53 62
10485892 1999

Variations for Hereditary Spherocytosis

ClinVar genetic disease variations for Hereditary Spherocytosis:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SPTB NM_001355436.2(SPTB):c.6095T>C (p.Leu2032Pro) SNV Pathogenic
522602 rs1555366607 GRCh37: 14:65234505-65234505
GRCh38: 14:64767787-64767787
2 SPTB NM_001355436.2(SPTB):c.4063G>T (p.Glu1355Ter) SNV Pathogenic
624571 rs1566754467 GRCh37: 14:65249211-65249211
GRCh38: 14:64782493-64782493
3 SPTA1 NM_003126.4(SPTA1):c.6788+11C>T SNV Pathogenic
996360 rs779537034 GRCh37: 1:158584995-158584995
GRCh38: 1:158615205-158615205
4 SPTA1 NM_003126.4(SPTA1):c.4339-99C>T SNV Pathogenic
1030630 rs200830867 GRCh37: 1:158613314-158613314
GRCh38: 1:158643524-158643524
5 SPTB NM_001355436.2(SPTB):c.6194_6195dup (p.Ala2066fs) DUP Likely Pathogenic
523132 rs1555366592 GRCh37: 14:65234404-65234405
GRCh38: 14:64767686-64767687
6 SPTB NM_001355436.2(SPTB):c.4520G>T (p.Gly1507Val) SNV Not Provided
1326902 GRCh37: 14:65245918-65245918
GRCh38: 14:64779200-64779200

Expression for Hereditary Spherocytosis

Search GEO for disease gene expression data for Hereditary Spherocytosis.

Pathways for Hereditary Spherocytosis



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

# Super pathways Score Top Affiliating Genes
1 10.62 SPTB SPTA1 ANK1
2 10.21 DMTN ADD2 ADD1

GO Terms for Hereditary Spherocytosis

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.92 ADD1 ADD2 ANK1 CD47 DMTN EPB41
2 plasma membrane GO:0005887 10.92 CD47 GYPA GYPB HFE RHD SLC4A1
3 membrane GO:0016020 10.65 ADD1 ADD2 ANK1 BLOC1S6 CD47 DMTN
4 membrane GO:0016021 10.65 CD47 EPB41 GYPA GYPB HFE RHD
5 cytoskeleton GO:0005856 10.13 SPTB SPTA1 EPB42 EPB41 DMTN ANK1
6 cytoplasmic side of plasma membrane GO:0009898 9.81 SPTB SPTA1 SLC4A1 G6PD ANK1
7 spectrin GO:0008091 9.76 SPTB SPTA1
8 F-actin capping protein complex GO:0008290 9.71 ADD1 ADD2
9 HFE-transferrin receptor complex GO:1990712 9.67 HFE TFRC
10 cortical cytoskeleton GO:0030863 9.61 SPTA1 SLC4A1 EPB42 EPB41 DMTN
11 spectrin-associated cytoskeleton GO:0014731 9.32 SPTB SPTA1 EPB41 DMTN ANK1
12 obsolete intrinsic component of the cytoplasmic side of the plasma membrane GO:0031235 9.26 SPTB SPTA1

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

# Name GO ID Score Top Affiliating Genes
1 regulation of cell shape GO:0008360 9.97 SPTA1 EPB42 EPB41 DMTN
2 cytoskeleton organization GO:0007010 9.95 EPB42 DMTN ANK1 ADD1
3 actin filament bundle assembly GO:0051017 9.73 DMTN ADD2 ADD1
4 actin cytoskeleton organization GO:0030036 9.73 SPTB SPTA1 EPB41 DMTN ADD2 ADD1
5 actin filament capping GO:0051693 9.63 DMTN SPTA1 SPTB
6 hemoglobin metabolic process GO:0020027 9.5 EPB42 ADD1
7 positive regulation of protein binding GO:0032092 9.32 SPTA1 HFE EPB41 ADD2 ADD1

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

# Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 10.17 UGT1A1 TFRC SLC4A1 G6PD BLOC1S6 ADD2
2 actin binding GO:0003779 10 SPTB SPTA1 EPB41 DMTN ADD2 ADD1
3 actin filament binding GO:0051015 9.93 ADD1 ADD2 BLOC1S6 DMTN SPTA1 SPTB
4 spectrin binding GO:0030507 9.65 EPB41 DMTN ANK1 ADD2 ADD1
5 structural constituent of cytoskeleton GO:0005200 9.44 SPTB SPTA1 EPB42 EPB41 ANK1 ADD2

Sources for Hereditary Spherocytosis

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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