MCID: HRD011
MIFTS: 52

Hereditary Spherocytosis malady

Genetic diseases, Rare diseases, Immune diseases, Blood diseases, Ear diseases categories

Aliases & Classifications for Hereditary Spherocytosis

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Sources:
23Genetics Home Reference, 65UMLS, 10Disease Ontology, 45NIH Rare Diseases, 12DISEASES, 51Orphanet, 47Novoseek, 24GTR, 36MeSH, 29ICD9CM, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 27ICD10
See all sources

Aliases & Descriptions for Hereditary Spherocytosis:

Name: Hereditary Spherocytosis 10 45 23 12 51 65
Congenital Spherocytic Hemolytic Anemia 10 45 23
Spherocytic Anemia 10 45 23
Congenital Spherocytosis 45 23
Spherocytosis Hereditary 47 24
Spherocytosis, Type 1 23 65
Histiocytosis with Joint Contractures and Sensorineural Deafness 65
 
Anemia, Hereditary Spherocytic Hemolytic 65
Minkowski Chauffard Syndrome 10
Minkowski-Chauffard Disease 51
Spherocytosis, Hereditary 36
Hartnup Disease 65
H Disease 47
Hs 23


Classifications:



Characteristics (Orphanet epidemiological data):

51
hereditary spherocytosis:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-5/10000 (Europe); Age of onset: All ages; Age of death: normal life expectancy


External Ids:

Disease Ontology10 DOID:12971
ICD9CM29 282.0
MeSH36 D013103
Orphanet51 822
SNOMED-CT59 154795009, 55995005
ICD10 via Orphanet28 D58.0
MESH via Orphanet37 C536356, D013103
UMLS via Orphanet66 C0037889, C0221409
ICD1027 D58.0

Summaries for Hereditary Spherocytosis

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NIH Rare Diseases:45 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 enlargement of the spleen. some people with a severe form may have short stature, delayed sexual development, 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. last updated: 10/12/2015

MalaCards based summary: Hereditary Spherocytosis, also known as congenital spherocytic hemolytic anemia, is related to spherocytosis, type 1 and pyropoikilocytosis. An important gene associated with Hereditary Spherocytosis is ANK1 (Ankyrin 1, Erythrocytic), and among its related pathways are L1CAM interactions and Interaction between L1 and Ankyrins. Affiliated tissues include spleen, skin and testes, and related mouse phenotypes are liver/biliary system and renal/urinary system.

Disease Ontology:10 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:23 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:68 Hereditary spherocytosis (also known as Minkowski–Chauffard syndrome) is an autosomal dominant... more...

Related Diseases for Hereditary Spherocytosis

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Diseases in the Hereditary Spherocytosis family:

Spherocytosis, Type 3 Spherocytosis, Type 1
Spherocytosis, Hereditary, Type 5 Spherocytosis, Type 4
Epb42-Related Hereditary Spherocytosis Ank1-Related Spherocytosis
Epb42-Related Spherocytosis Slc4a1-Related Spherocytosis
Spta1-Related Spherocytosis Sptb-Related Spherocytosis

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

(show top 50)    (show all 264)
idRelated DiseaseScoreTop Affiliating Genes
1spherocytosis, type 131.0ANK1, SPTB
2pyropoikilocytosis30.7EPB41, SPTA1, SPTB
3pyruvate kinase deficiency30.6G6PD, HFE, PKLR, SLC4A1
4thalassemia, hispanic gamma-delta-beta30.1G6PD, HFE, RHD, SPTB, UGT1A1
5blood platelet disease30.1G6PD, RHD, SLC4A1
6familial atrial fibrillation30.1CD47, GYPB, RHD
7hemolytic anemia10.6
8trichomegaly, cataract, and hereditary spherocytosis10.6
9hemochromatosis10.5
10hereditary elliptocytosis10.5
11splenic infarction10.5
12thalassemia10.5
13gilbert syndrome10.5
14congenital hemolytic anemia10.5
15hidradenitis suppurativa10.4
16hemoglobin h disease, nondeletional10.4
17pancytopenia10.4
18mediastinitis10.4
19epb42-related hereditary spherocytosis10.4
20deficiency anemia10.3
21renal tubular acidosis10.3
22protein c deficiency10.3
23angioid streaks10.3
24cholelithiasis10.3
25splenic sequestration10.3
26encephalopathy10.3
27sarcoma10.3
28sickle cell anemia10.3
29moyamoya disease10.3
30cerebritis10.3
31neonatal jaundice10.3
32neuropathy10.3
33pulmonary embolism10.3
34sickle cell disease10.3
35splenomegaly10.3
36cardiomyopathy10.3
37complex regional pain syndrome10.3
38myocardial infarction10.2
39coronary artery disease10.2
40temporal lobe epilepsy10.2
41artery disease10.2
42hidradenitis10.2
43ank1-related spherocytosis10.2
44fetal erythroblastosis10.1G6PD, SLC4A1, UGT1A1
45dyschromatosis symmetrica hereditaria10.1
46coronary heart disease 210.1
47dowling-degos disease 110.1
48reticulate acropigmentation of kitamura10.1
49dowling-degos disease 210.1
50angina pectoris10.1

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



Diseases related to hereditary spherocytosis

Symptoms for Hereditary Spherocytosis

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Drugs & Therapeutics for Hereditary Spherocytosis

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Pancrelipaseapproved83953608-75-6
Synonyms:
1,4-alpha-D- glucan glucanohydrolase
Creon
PA
Pancreatic alpha-amylase precursor
Pancreaze
 
Pancrelipase
Pertzye
Polocaine-mpf
Ultresa
Viokace
Zenpep
2pancreatin839
3PapayaNutraceutical13

Interventional clinical trials:

idNameStatusNCT IDPhase
1Single Incision Versus Standard Laparoscopic SplenectomyActive, not recruitingNCT01276561
2Splenic Function After Spleen-Preserving Distal Pancreatectomy With Excision of Splenic Artery and VeinActive, not recruitingNCT00778362
3Hemolysis in Patients With Hereditary Spherocytosis (HS)Not yet recruitingNCT01201174
4GDF 15 in Sickle Cell Disease and Hereditary SpherocytosisNot yet recruitingNCT01201135
5Distal Pancreatectomy With Partial Splenectomy for Pancreatic TumorsNot yet recruitingNCT01412684
6The Dallas Hereditary Spherocytosis Cohort StudyTerminatedNCT01141621

Search NIH Clinical Center for Hereditary Spherocytosis


Cochrane evidence based reviews: Spherocytosis, Hereditary

Genetic Tests for Hereditary Spherocytosis

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Genetic tests related to Hereditary Spherocytosis:

id Genetic test Affiliating Genes
1 Hereditary Spherocytosis24

Anatomical Context for Hereditary Spherocytosis

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MalaCards organs/tissues related to Hereditary Spherocytosis:

33
Spleen, Skin, Testes, Eye, Heart, Bone, Bone marrow

Animal Models for Hereditary Spherocytosis or affiliated genes

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MGI Mouse Phenotypes related to Hereditary Spherocytosis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.4ADD2, ANK1, EPB41, HFE, SPTA1, SPTB
2MP:00053679.2ADD2, ANK1, BLOC1S6, EPB41, SLC4A1, SPTA1
3MP:00053858.4ADD2, ANK1, ANXA7, BLOC1S6, CD47, G6PD
4MP:00053877.0ADD2, ANK1, ANXA7, BLOC1S6, CD47, EPB41
5MP:00053766.8ADD2, ANK1, ANXA7, BLOC1S6, CD47, EPB41
6MP:00053976.6ADD2, ANK1, ANXA7, BLOC1S6, CD47, DMTN

Publications for Hereditary Spherocytosis

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Articles related to Hereditary Spherocytosis:

(show top 50)    (show all 557)
idTitleAuthorsYear
1
Klebsiella brain abscess in an infant with hereditary spherocytosis. (25691204)
2015
2
Hereditary Spherocytosis Unmasked by Human Parvovirus B19 Induced Aplastic Crisis in a Family. (26379354)
2015
3
Early postnatal diagnosis of hereditary spherocytosis by combining light microscopy, acidified glycerol lysis test and eosin-5'-maleimide binding assay. (26336967)
2015
4
Towards the harmonization of result presentation for the eosin-5'- maleimide (EMA) binding test in the diagnosis of hereditary spherocytosis. (25178480)
2014
5
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
6
Is activity restriction appropriate for patients with hereditary spherocytosis? A population-based analysis. (23307599)
2013
7
Flow cytometry test for hereditary spherocytosis. (23204480)
2012
8
Ganglioneuroma in a child with hereditary spherocytosis. (22734309)
2012
9
Proteomic identification of erythrocyte membrane protein deficiency in hereditary spherocytosis. (21706353)
2012
10
Partial splenectomy for hereditary spherocytosis: a multi-institutional review. (21238662)
2011
11
Protein 4.2 interaction with hereditary spherocytosis mutants of the cytoplasmic domain of human anion exchanger 1. (21039340)
2011
12
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
13
Evaluation of mean sphered corpuscular volume for predicting hereditary spherocytosis. (20136849)
2010
14
Perioperative implications of hereditary spherocytosis in coronary artery surgery. (19640740)
2010
15
Novel beta-spectrin mutations in hereditary spherocytosis associated with decreased levels of mRNA. (19538529)
2009
16
Laboratory markers of thrombosis risk in children with hereditary spherocytosis. (17854065)
2007
17
Kernicterus associated with hereditary spherocytosis and UGT1A1 promoter polymorphism. (16735790)
2006
18
Hereditary spherocytosis -- prevalence of erythrocyte membrane protein deficiency]. (12828006)
2003
19
Follow-up of partial splenectomy in children with hereditary spherocytosis. (12378454)
2002
20
Flow-cytometric analysis of erythrocytes and reticulocytes in congenital dyserythropoietic anaemia type II (CDA II): value in differential diagnosis with hereditary spherocytosis. (11422224)
2001
21
Hereditary spherocytosis in zebrafish riesling illustrates evolution of erythroid beta-spectrin structure, and function in red cell morphogenesis and membrane stability. (11060238)
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
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
34
A novel mutation in the erythrocyte protein 4.2 gene of Japanese patients with hereditary spherocytosis (protein 4.2 Fukuoka). (7819064)
1994
35
Combined ankyrin and spectrin deficiency in hereditary spherocytosis. (8347735)
1993
36
Coexistence of hereditary spherocytosis (HS) due to band 3 deficiency and beta-thalassaemia trait: partial correction of HS phenotype. (8136278)
1993
37
Measurements of cell volume and hemoglobin concentration of erythrocytes from hereditary ovalocytosis and hereditary spherocytosis. (1402474)
1992
38
Occult hereditary spherocytosis and human parvovirus infection. (1767699)
1991
39
Changes in proteolytic susceptibility of erythrocyte membrane proteins in hereditary spherocytosis. (1889126)
1991
40
Phosphoinositide signalling system in red blood cells of patients with hereditary spherocytosis. (1650191)
1991
41
Linkage of dominant hereditary spherocytosis to the gene for the erythrocyte membrane-skeleton protein ankyrin. (1977081)
1990
42
Variable clinical severity of hereditary spherocytosis: relation to erythrocytic spectrin concentration, osmotic fragility, and autohemolysis. (2391596)
1990
43
T lymphocyte subsets, natural killer cell cytotoxicity and autologous mixed lymphocyte response in children after splenectomy because of hereditary spherocytosis. (2534277)
1989
44
Thrombotic thrombocytopenic purpura in an asplenic patient with hereditary spherocytosis: failure of plasmapheresis, antiplatelet therapy, and corticosteroids. (3189717)
1988
45
Abnormal oxidant sensitivity and beta-chain structure of spectrin in hereditary spherocytosis associated with defective spectrin-protein 4.1 binding. (3611357)
1987
46
Inhibition of erythropoiesis by human parvovirus-containing serum from a patient with hereditary spherocytosis in aplastic crisis. (3020677)
1986
47
NH4Cl-HCO3(-)-mediated hemolytic reaction in the erythrocytes of hereditary spherocytosis. (3083532)
1986
48
Angioid streaks associated with hereditary spherocytosis. (6496630)
1984
49
Parvovirus infection in a family associated with aplastic crisis in an affected sibling pair with hereditary spherocytosis. (6092438)
1984
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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Clinvar genetic disease variations for Hereditary Spherocytosis:

5 (show all 30)
id Gene Variation 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, 41573253: 41573253

Expression for genes affiliated with Hereditary Spherocytosis

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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 Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
10.0ANK1, SPTA1, SPTB
210.0ANK1, SPTA1, SPTB
39.8ADD2, DMTN
49.7GYPA, GYPB, GYPC

GO Terms for genes affiliated with Hereditary Spherocytosis

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

idNameGO IDScoreTop Affiliating Genes
1intrinsic component of the cytoplasmic side of the plasma membraneGO:003123510.9SPTA1, SPTB
2spectrinGO:000809110.6EPB41, SPTA1, SPTB
3spectrin-associated cytoskeletonGO:001473110.2ANK1, DMTN, EPB41, SPTA1, SPTB
4cortical cytoskeletonGO:00308639.6DMTN, EPB41, EPB42, GYPC, SLC4A1, SPTA1
5integral component of plasma membraneGO:00058879.0CD47, GYPA, GYPB, GYPC, HFE, RHD
6membraneGO:00160207.6ANXA7, DMTN, EPB41, EPB42, G6PD, GYPA
7cytosolGO:00058297.6ADD2, ANK1, ANXA7, BLOC1S6, DMTN, G6PD
8plasma membraneGO:00058867.1ADD2, ANK1, ANXA7, CD47, DMTN, EPB41

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1erythrocyte maturationGO:004324910.7EPB42, G6PD
2plasma membrane organizationGO:000700910.6SPTA1, SPTB
3porphyrin-containing compound biosynthetic processGO:000677910.4SPTA1, SPTB
4actin filament cappingGO:005169310.3DMTN, SPTA1, SPTB
5positive regulation of blood coagulationGO:003019410.2DMTN, PRDX2
6positive regulation of protein bindingGO:00320929.8ADD2, EPB41, HFE, SPTA1
7response to organic cyclic compoundGO:00140709.6ANXA7, G6PD, PKLR, UGT1A1
8protein complex assemblyGO:00064619.6ADD2, DMTN, HFE
9regulation of cell shapeGO:00083609.4ANXA7, DMTN, EPB42, SPTA1
10actin cytoskeleton organizationGO:00300369.4ADD2, DMTN, EPB41, SPTA1

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

idNameGO IDScoreTop Affiliating Genes
1ankyrin bindingGO:003050610.6SLC4A1, SPTB
2actin filament bindingGO:00510159.9ADD2, BLOC1S6, SPTA1, SPTB
3spectrin bindingGO:00305079.8ADD2, ANK1, DMTN, EPB41
4structural constituent of cytoskeletonGO:00052009.3ANK1, EPB41, EPB42, SPTA1, SPTB
5actin bindingGO:00037799.1ADD2, DMTN, EPB41, SLC4A1, SPTB
6protein homodimerization activityGO:00428039.1ADD2, BLOC1S6, G6PD, GYPA, SLC4A1, UGT1A1

Sources for Hereditary Spherocytosis

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet