HS
MCID: HRD011
MIFTS: 67

Hereditary Spherocytosis (HS) malady

Genetic diseases, Rare diseases, Immune diseases, Blood diseases categories
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Summaries for Hereditary Spherocytosis

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NIH Rare Diseases:42 Hereditary spherocytosis is a condition characterized by hemolytic anemia (when red blood cells are destroyed earlier than normal). signs and symptoms may include pale skin, fatigue, anemia, jaundice, gallstones, and enlargement of the spleen. the condition is caused by mutations in any of several genes, including the ank1, epb42, slc4a1, spta1, and sptb genes. it is most commonly inherited in an autosomal dominant pattern, but may also be inherited in an autosomal recessive pattern. different types of hereditary spherocytosis exist and are distinguished by their severity and genetic cause.  depending on severity, treatment may involve folic acid replacement, red cell transfusions, splenectomy, and cholecystectomy. last updated: 9/11/2012

MalaCards based summary: Hereditary Spherocytosis, also known as congenital spherocytic hemolytic anemia, is related to hemolytic anemia and pyropoikilocytosis, and has symptoms including An important gene associated with Hereditary Spherocytosis is ANK1 (ankyrin 1, erythrocytic), and among its related pathways are NCAM signaling for neurite out-growth and Interaction between L1 and Ankyrins. The compounds naoh and oxalate have been mentioned in the context of this disorder. Affiliated tissues include spleen, skin and testes, and related mouse phenotypes are pigmentation and renal/urinary system.

Genetics Home Reference:21 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:65 Hereditary spherocytosis (also known as Minkowski?Chauffard syndrome) is a non immune-mediated hemolytic... more...

Descriptions from OMIM:46 182900,270970,612653,612690

Aliases & Classifications for Hereditary Spherocytosis

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Sources:
8Disease Ontology, 42NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 62UMLS, 57SNOMED-CT, 27ICD9CM, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet, 25ICD10
See all sources

Hereditary Spherocytosis, Aliases & Descriptions:

Name: Hereditary Spherocytosis 8 42 22 21 10 48 62
Congenital Spherocytic Hemolytic Anemia 8 42 21
Congenital Spherocytosis 42 21
Spherocytosis, Type 1 21 46
Spherocytic Anemia 42 21
Congenital Spherocytic Haemolytic Anaemia 62
Anemia, Hereditary Spherocytic Hemolytic 62
Minkowski Chauffard Syndrome 8
 
Minkowski-Chauffard Syndrome 62
Minkowski-Chauffard Disease 48
Spherocytosis Hereditary 44
Anemia Spherocytic 8
Hartnup Disease 62
H Disease 44
Hs 21


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Immune diseases, Blood diseases


Characteristics (Orphanet epidemiological data):

48
hereditary spherocytosis:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-5/10000; Age of onset: Variable; Age of death: Normal


External Ids:

Disease Ontology8 DOID:12971
ICD9CM27 282.0
MeSH34 D013103
SNOMED-CT57 154795009, 55995005
MESH via Orphanet35 C536356, D013103
ICD10 via Orphanet26 D58.0
UMLS via Orphanet63 C0037889, C0221409
ICD1025 D58.0

Related Diseases for Hereditary Spherocytosis

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Diseases in the Hereditary Spherocytosis family:

Epb42-Related Hereditary Spherocytosis Slc4a1-Related Spherocytosis
Ank1-Related Spherocytosis Spta1-Related Spherocytosis
Epb42-Related Spherocytosis Sptb-Related Spherocytosis
Spherocytosis, Type 3 Spherocytosis, Type 2
Spherocytosis, Hereditary, Type 5 Spherocytosis, Type 4

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

(show top 50)    (show all 153)
idRelated DiseaseScoreTop Affiliating Genes
1hemolytic anemia31.1PKLR
2pyropoikilocytosis30.9SPTA1
3hereditary elliptocytosis30.8SPTB, SPTA1, RHD, SLC4A1
4sickle cell anemia30.7SPTB
5congenital hemolytic anemia30.5PKLR, SPTB
6neonatal jaundice30.5UGT1A1, RHD
7kernicterus30.4UGT1A1, RHD
8alpha thalassemia30.2UGT1A1, HBG1
9sickle cell disease30.1RHD, HBG1, UGT1A1
10beta thalassemia29.9HBG1, UGT1A1, SPTB, RHD
11trichomegaly, cataract, and hereditary spherocytosis10.6
12hemochromatosis10.5
13thalassemia10.4
14splenic infarction10.4
15hidradenitis suppurativa10.4
16sarcoma10.4
17hypertension10.4
18gilbert syndrome10.4
19pancytopenia10.4
20mediastinitis10.4
21hemoglobin h disease, nondeletional10.4
22renal tubular acidosis10.3
23splenic sequestration10.3
24cholelithiasis10.3
25protein c deficiency10.3
26epb42-related hereditary spherocytosis10.3
27pyruvate kinase deficiency10.3
28insulin resistance10.2
29histiocytic sarcoma10.2
30angioid streaks10.2
31moyamoya disease10.2
32cerebritis10.2
33neuropathy10.2
34pulmonary embolism10.2
35thromboembolism10.2
36sepsis10.2
37spherocytosis, hereditary, type 510.2
38congenital dyserythropoietic anemia10.2SLC4A1, RHD
39temporal lobe epilepsy10.2
40dowling-degos disease10.2
41dyschromatosis symmetrica hereditaria 110.2
42dowling-degos disease 110.2
43dowling-degos disease 210.2
44mesial temporal lobe epilepsy with hippocampal sclerosis10.2
45obesity10.1
46eclampsia10.1
47kawasaki disease10.1
48clear cell sarcoma10.1
49adenocarcinoma10.1
50hidradenitis10.1

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



Diseases related to hereditary spherocytosis

Symptoms for Hereditary Spherocytosis

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Symptoms by clinical synopsis from OMIM:

182900

Clinical features from OMIM:

182900,270970,612653,612690

HPO human phenotypes related to Hereditary Spherocytosis:

(show all 8)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 jaundice HP:0000952
3 cholelithiasis HP:0001081
4 splenomegaly HP:0001744
5 hemolytic anemia HP:0001878
6 reticulocytosis HP:0001923
7 hyperbilirubinemia HP:0002904
8 spherocytosis HP:0004444

Drugs & Therapeutics for Hereditary Spherocytosis

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Drug clinical trials:

Search ClinicalTrials for Hereditary Spherocytosis

Search NIH Clinical Center for Hereditary Spherocytosis

Genetic Tests for Hereditary Spherocytosis

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Genetic tests related to Hereditary Spherocytosis:

id Genetic test Affiliating Genes
1 Hereditary Spherocytosis22

Anatomical Context for Hereditary Spherocytosis

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MalaCards organs/tissues related to Hereditary Spherocytosis:

32
Spleen, Skin, Testes, Eye, Heart, Bone marrow, Bone, Spinal cord, Lung, Neutrophil

Animal Models for Hereditary Spherocytosis or affiliated genes

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MGI Mouse Phenotypes related to Hereditary Spherocytosis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.5ANK1, BLOC1S6, SPTA1
2MP:00053678.9ANK1, BLOC1S6, SPTA1, SLC4A1, SPTB
3MP:00053858.3SPTB, SLC4A1, ANK1, ANXA7, BLOC1S6, SPTA1
4MP:00053788.0SPTA1, BLOC1S6, ANXA7, ANK1, SLC4A1, SPTB
5MP:00107687.6SLC4A1, PKLR, ANK1, SPTB, ANXA7, BLOC1S6
6MP:00053877.5ANK1, SLC4A1, ANXA7, PKLR, SPTB, SPTA1
7MP:00053977.2SPTB, EPB42, SLC4A1, RHD, PKLR, ANK1
8MP:00053767.2RHD, PKLR, ANK1, ANXA7, EPB42, BLOC1S6

Publications for Hereditary Spherocytosis

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Articles related to Hereditary Spherocytosis:

(show top 50)    (show all 530)
idTitleAuthorsYear
1
Towards the harmonization of result presentation for the eosin-5'- maleimide (EMA) binding test in the diagnosis of hereditary spherocytosis. (25178480)
2014
2
Clinically mild encephalitis/encephalopathy with a reversible splenial lesion caused by human parvovirus b19 infection: a case of two brothers with hereditary spherocytosis. (25035141)
2014
3
Toward the harmonization of result presentation for the eosin-5'-maleimide binding test in the diagnosis of hereditary spherocytosis. (25227211)
2014
4
Is activity restriction appropriate for patients with hereditary spherocytosis? A population-based analysis. (23307599)
2013
5
Flow cytometry test for hereditary spherocytosis. (23204480)
2012
6
Ganglioneuroma in a child with hereditary spherocytosis. (22734309)
2012
7
Proteomic identification of erythrocyte membrane protein deficiency in hereditary spherocytosis. (21706353)
2012
8
Partial splenectomy for hereditary spherocytosis: a multi-institutional review. (21238662)
2011
9
Protein 4.2 interaction with hereditary spherocytosis mutants of the cytoplasmic domain of human anion exchanger 1. (21039340)
2011
10
A prospective study to assess the predictive value for hereditary spherocytosis using five laboratory tests (cryohemolysis test, eosin-5'-maleimide flow cytometry, osmotic fragility test, autohemolysis test, and SDS-PAGE) on 50 hereditary spherocytosis families in Argentina. (21080168)
2011
11
Evaluation of mean sphered corpuscular volume for predicting hereditary spherocytosis. (20136849)
2010
12
Perioperative implications of hereditary spherocytosis in coronary artery surgery. (19640740)
2010
13
Novel beta-spectrin mutations in hereditary spherocytosis associated with decreased levels of mRNA. (19538529)
2009
14
Laboratory markers of thrombosis risk in children with hereditary spherocytosis. (17854065)
2007
15
Kernicterus associated with hereditary spherocytosis and UGT1A1 promoter polymorphism. (16735790)
2006
16
Hereditary spherocytosis -- prevalence of erythrocyte membrane protein deficiency]. (12828006)
2003
17
Follow-up of partial splenectomy in children with hereditary spherocytosis. (12378454)
2002
18
Flow-cytometric analysis of erythrocytes and reticulocytes in congenital dyserythropoietic anaemia type II (CDA II): value in differential diagnosis with hereditary spherocytosis. (11422224)
2001
19
Arterial elastorrhexis in beta-thalassaemia intermedia, sickle cell thalassaemia and hereditary spherocytosis. (11737245)
2001
20
Hereditary spherocytosis in zebrafish riesling illustrates evolution of erythroid beta-spectrin structure, and function in red cell morphogenesis and membrane stability. (11060238)
2000
21
Low frequency of ankyrin mutations in hereditary spherocytosis: identification of three novel mutations. (11102985)
2000
22
Inherited protein C deficiency, protein S deficiency and hyperhomocysteinaemia in a patient with hereditary spherocytosis. (10448604)
1999
23
Coinheritance of Gilbert syndrome increases the risk for developing gallstones in patients with hereditary spherocytosis. (10498597)
1999
24
UGT1 promoter polymorphism accounts for increased neonatal appearance of hereditary spherocytosis. (9446675)
1998
25
Hereditary spherocytosis: from clinical to molecular defects. (9573679)
1998
26
Frequent de novo monoallelic expression of beta-spectrin gene (SPTB) in children with hereditary spherocytosis and isolated spectrin deficiency. (9609518)
1998
27
Modulation of clinical expression and band 3 deficiency in hereditary spherocytosis. (9207478)
1997
28
Frequent de novo mutations of the ANK1 gene mimic a recessive mode of transmission in hereditary spherocytosis: three new ANK1 variants: ankyrins Bari, Napoli II and Anzio. (9054656)
1997
29
Total absence of protein 4.2 and partial deficiency of band 3 in hereditary spherocytosis. (9401060)
1997
30
A nonsense mutation in the erythrocyte band 3 gene associated with decreased mRNA accumulation in a kindred with dominant hereditary spherocytosis. (8567957)
1996
31
A nonsense mutation 1669Glu-->Ter within the regulatory domain of human erythroid ankyrin leads to a selective deficiency of the major ankyrin isoform (band 2.1) and a phenotype of autosomal dominant hereditary spherocytosis. (7883994)
1995
32
Isolated weakness of the extensor hallucis longus in a patient with hereditary spherocytosis. (7767444)
1995
33
Acute lymphoblastic leukaemia in a child with hereditary spherocytosis. (8582429)
1995
34
Uniquely higher incidence of isolated or combined deficiency of band 3 and/or band 4.2 as the pathogenesis of autosomal dominantly inherited hereditary spherocytosis in the Japanese population. (7894027)
1994
35
A novel mutation in the erythrocyte protein 4.2 gene of Japanese patients with hereditary spherocytosis (protein 4.2 Fukuoka). (7819064)
1994
36
Red cell membrane protein abnormalities in hereditary spherocytosis in Brazil. (7803273)
1994
37
Combined ankyrin and spectrin deficiency in hereditary spherocytosis. (8347735)
1993
38
Coexistence of hereditary spherocytosis (HS) due to band 3 deficiency and beta-thalassaemia trait: partial correction of HS phenotype. (8136278)
1993
39
Measurements of cell volume and hemoglobin concentration of erythrocytes from hereditary ovalocytosis and hereditary spherocytosis. (1402474)
1992
40
Occult hereditary spherocytosis and human parvovirus infection. (1767699)
1991
41
Changes in proteolytic susceptibility of erythrocyte membrane proteins in hereditary spherocytosis. (1889126)
1991
42
Phosphoinositide signalling system in red blood cells of patients with hereditary spherocytosis. (1650191)
1991
43
Linkage of dominant hereditary spherocytosis to the gene for the erythrocyte membrane-skeleton protein ankyrin. (1977081)
1990
44
Variable clinical severity of hereditary spherocytosis: relation to erythrocytic spectrin concentration, osmotic fragility, and autohemolysis. (2391596)
1990
45
T lymphocyte subsets, natural killer cell cytotoxicity and autologous mixed lymphocyte response in children after splenectomy because of hereditary spherocytosis. (2534277)
1989
46
Thrombotic thrombocytopenic purpura in an asplenic patient with hereditary spherocytosis: failure of plasmapheresis, antiplatelet therapy, and corticosteroids. (3189717)
1988
47
Abnormal oxidant sensitivity and beta-chain structure of spectrin in hereditary spherocytosis associated with defective spectrin-protein 4.1 binding. (3611357)
1987
48
Inhibition of erythropoiesis by human parvovirus-containing serum from a patient with hereditary spherocytosis in aplastic crisis. (3020677)
1986
49
NH4Cl-HCO3(-)-mediated hemolytic reaction in the erythrocytes of hereditary spherocytosis. (3083532)
1986
50
Identification of the molecular defect in the erythrocyte membrane skeleton of some kindreds with hereditary spherocytosis. (7104494)
1982

Variations for Hereditary Spherocytosis

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UniProtKB/Swiss-Prot genetic disease variations for Hereditary Spherocytosis:

64
id Symbol AA change Variation ID SNP ID
1ANK1p.Val463IleVAR_000596
2ANK1p.Leu276ArgVAR_054991
3ANK1p.Ile1054ThrVAR_054992

Clinvar genetic disease variations for Hereditary Spherocytosis:

6 (show all 30)
id Gene Name Type Significance SNP ID Assembly Location
1SPTA1SPTA1, IVS36, A-G, -1single nucleotide variantPathogenic
2SPTA1SPTA1, IVS30, C-T, -99single nucleotide variantPathogenic
3EPB42NM_000119.2(EPB42): c.424G> A (p.Ala142Thr)single nucleotide variantPathogenicrs104894487GRCh37Chr 15, 43507389: 43507389
4EPB42NM_000119.2(EPB42): c.265delG (p.Val89Trpfs)deletionPathogenicrs266257354GRCh37Chr 15, 43508487: 43508487
5EPB42NM_000119.2(EPB42): c.929G> A (p.Arg310Gln)single nucleotide variantPathogenicrs121917734GRCh37Chr 15, 43500967: 43500967
6EPB42NM_000119.2(EPB42): c.922+1G> Asingle nucleotide variantPathogenicrs266257355GRCh37Chr 15, 43501471: 43501471
7EPB42NM_000119.2(EPB42): c.1747G> T (p.Glu583Ter)single nucleotide variantPathogenicrs115998465GRCh37Chr 15, 43495435: 43495435
8EPB42NM_000119.2(EPB42): c.523G> T (p.Asp175Tyr)single nucleotide variantPathogenicrs143682977GRCh38Chr 15, 43211532: 43211532
9EPB42NM_000119.2(EPB42): c.920C> T (p.Thr307Ile)single nucleotide variantPathogenicrs515726211GRCh38Chr 15, 43209276: 43209276
10EPB42NM_000119.2(EPB42): c.949C> T (p.Arg317Cys)single nucleotide variantPathogenicrs515726212GRCh38Chr 15, 43208749: 43208749
11EPB42NM_000119.2(EPB42): c.950delG (p.Arg317Profs)deletionPathogenicrs515726213GRCh38Chr 15, 43208748: 43208748
12EPB42NM_000119.2(EPB42): c.1699G> A (p.Ala567Thr)single nucleotide variantPathogenicrs45495503GRCh38Chr 15, 43206339: 43206339
13EPB42NM_000119.2(EPB42): c.286+6T> Asingle nucleotide variantPathogenicrs515726214GRCh38Chr 15, 43216262: 43216262
14SLC4A1NM_000342.3(SLC4A1): c.-62G> Asingle nucleotide variantPathogenicrs387906565GRCh37Chr 17, 42340296: 42340296
15SLC4A1NM_000342.3(SLC4A1): c.980C> G (p.Pro327Arg)single nucleotide variantPathogenicrs28931583GRCh37Chr 17, 42335888: 42335888
16SLC4A1NM_000342.3(SLC4A1): c.118G> A (p.Glu40Lys)single nucleotide variantPathogenicrs45562031GRCh37Chr 17, 42338993: 42338993
17SLC4A1NM_000342.3(SLC4A1): c.2464_2465insCACCCAGATG (p.Val822Alafs)insertionPathogenicrs387906566GRCh37Chr 17, 42328803: 42328804
18SLC4A1NM_000342.3(SLC4A1): c.2312G> A (p.Gly771Asp)single nucleotide variantPathogenicrs121912741GRCh37Chr 17, 42328956: 42328956
19SLC4A1NM_000342.3(SLC4A1): c.988C> T (p.Gln330Ter)single nucleotide variantPathogenicrs121912742GRCh37Chr 17, 42335880: 42335880
20SLC4A1NM_000342.3(SLC4A1): c.448C> T (p.Arg150Ter)single nucleotide variantPathogenicrs56361140GRCh37Chr 17, 42337809: 42337809
21SLC4A1NM_000342.3(SLC4A1): c.388G> A (p.Gly130Arg)single nucleotide variantPathogenicrs121912749GRCh37Chr 17, 42337869: 42337869
22SLC4A1NM_000342.3(SLC4A1): c.2509A> G (p.Thr837Ala)single nucleotide variantPathogenicrs121912750GRCh37Chr 17, 42328673: 42328673
23SLC4A1NM_000342.3(SLC4A1): c.1462G> A (p.Val488Met)single nucleotide variantPathogenicrs28931584GRCh37Chr 17, 42334882: 42334882
24SLC4A1NM_000342.3(SLC4A1): c.268G> A (p.Glu90Lys)single nucleotide variantPathogenicrs28929480GRCh37Chr 17, 42338084: 42338084
25SLC4A1NM_000342.3(SLC4A1): c.2608C> T (p.Arg870Trp)single nucleotide variantPathogenicrs28931585GRCh37Chr 17, 42328574: 42328574
26SLC4A1NM_000342.3(SLC4A1): c.2279G> A (p.Arg760Gln)single nucleotide variantPathogenicrs121912755GRCh37Chr 17, 42330518: 42330518
27ANK1NM_001142446.1(ANK1): c.5128G> T (p.Glu1710Ter)single nucleotide variantPathogenicrs137852829GRCh37Chr 8, 41529963: 41529963
28ANK1NM_001142446.1(ANK1): c.5286G> A (p.Trp1762Ter)single nucleotide variantPathogenicrs137852830GRCh37Chr 8, 41526016: 41526016
29ANK1NM_001142446.1(ANK1): c.5620C> T (p.Arg1874Ter)single nucleotide variantPathogenicrs137852831GRCh37Chr 8, 41519441: 41519441
30ANK1NM_001142446.1(ANK1): c.1618dupC (p.Leu540Profs)duplicationPathogenicrs397514029GRCh37Chr 8, 41573252: 41573253

Expression for genes affiliated with Hereditary Spherocytosis

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Expression patterns in normal tissues for genes affiliated with Hereditary Spherocytosis

Search GEO for disease gene expression data for Hereditary Spherocytosis.

Pathways for genes affiliated with Hereditary Spherocytosis

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Pathways related to Hereditary Spherocytosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.8SPTA1, SPTB
29.5ANK1, SPTA1, SPTB
3
Show member pathways
8.9PKLR, ANK1, SPTA1, SPTB

Compounds for genes affiliated with Hereditary Spherocytosis

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Sources:
44Novoseek, 28IUPHAR, 11DrugBank
See all sources

Compounds related to Hereditary Spherocytosis according to GeneCards/GeneDecks:

(show all 12)
idCompoundScoreTop Affiliating Genes
1naoh4410.0SLC4A1, RHD
2oxalate4410.0SLC4A1, RHD
3dids44 2810.9SLC4A1, RHD
4bicarbonate449.8RHD, SLC4A1
5benzidine449.6UGT1A1, HBG1
6phosphatidylserine44 28 1111.2RHD, ANK1, SPTB, ANXA7
7phospholipid449.2SLC4A1, RHD, ANXA7
8leucine449.0SPTB, HBG1, UGT1A1, SLC4A1
9glyceraldehyde 3-phosphate448.6SPTB, HBG1, PKLR, RHD, SLC4A1
10glucose448.6SLC4A1, RHD, PKLR, SPTB
11tyrosine448.5PKLR, RHD, ANK1, UGT1A1, SLC4A1
12lipid448.1SRI, SPTB, SLC4A1, RHD, ANXA7, ANK1

GO Terms for genes affiliated with Hereditary Spherocytosis

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Cellular components related to Hereditary Spherocytosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cortical cytoskeletonGO:0308639.8EPB42, ANK1, SLC4A1
2spectrin-associated cytoskeletonGO:0147319.7SPTB, SPTA1, ANK1
3spectrinGO:0080919.7SPTB, SPTA1
4intrinsic component of the cytoplasmic side of the plasma membraneGO:0312359.5SPTA1, SPTB
5sarcoplasmic reticulumGO:0165299.4ANK1, SRI
6chromaffin granule membraneGO:0425849.2ANXA7, SRI
7Z discGO:0300189.1ANK1, SRI, SLC4A1
8cytosolGO:0058296.8PKLR, SPTB, SPTA1, BLOC1S6, HBG1, SRI

Biological processes related to Hereditary Spherocytosis according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1plasma membrane organizationGO:0070099.9SPTA1, SPTB
2actin filament cappingGO:0516939.8SPTA1, SPTB
3porphyrin-containing compound biosynthetic processGO:0067799.7ANK1, SPTA1, SPTB
4hemopoiesisGO:0300979.5SPTA1, SPTB
5axon guidanceGO:0074119.4SPTB, SPTA1, ANK1
6response to nutrientGO:0075849.4UGT1A1, PKLR
7regulation of cell shapeGO:0083609.4SPTA1, EPB42, ANXA7

Molecular functions related to Hereditary Spherocytosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ankyrin bindingGO:0305069.5SLC4A1, SPTB
2actin filament bindingGO:0510159.4SPTA1, BLOC1S6, SPTB
3structural constituent of cytoskeletonGO:0052009.3ANK1, EPB42, SPTA1, SPTB
4protein heterodimerization activityGO:0469828.4SRI, SPTB, SPTA1, UGT1A1
5protein bindingGO:0055157.2SLC4A1, SRI, ANXA7, SPTB, ANK1, BLOC1S6

Products for genes affiliated with Hereditary Spherocytosis

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  • Antibodies
  • Proteins
  • Lysates

Sources for Hereditary Spherocytosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet