MCID: HRD011
MIFTS: 56

Hereditary Spherocytosis malady

Genetic diseases, Rare diseases, Immune diseases, Blood diseases, Ear diseases, Bone diseases, Skin diseases, Endocrine diseases categories

Aliases & Classifications for Hereditary Spherocytosis

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Sources:
21Genetics Home Reference, 60UMLS, 9Disease Ontology, 41NIH Rare Diseases, 11DISEASES, 47Orphanet, 43Novoseek, 22GTR, 27ICD9CM, 33MeSH, 55SNOMED-CT, 26ICD10 via Orphanet, 34MESH via Orphanet, 61UMLS via Orphanet, 25ICD10
See all sources

Hereditary Spherocytosis, Aliases & Descriptions:

Name: Hereditary Spherocytosis 9 41 21 11 47 60
Congenital Spherocytic Hemolytic Anemia 9 41 21
Spherocytic Anemia 9 41 21
Minkowski-Chauffard Disease 41 47
Congenital Spherocytosis 41 21
Spherocytosis Hereditary 43 22
Spherocytosis, Type 1 21 60
 
Histiocytosis with Joint Contractures and Sensorineural Deafness 60
Anemia, Hereditary Spherocytic Hemolytic 60
Minkowski Chauffard Syndrome 9
Hartnup Disease 60
H Syndrome 47
H Disease 43
Hs 21


Classifications:



Characteristics (Orphanet epidemiological data):

47
h syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: any age
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 Ontology9 DOID:12971
ICD9CM27 282.0
MeSH33 D013103
Orphanet47 168569, 822
SNOMED-CT55 154795009, 55995005
ICD10 via Orphanet26 D76.3, D58.0
MESH via Orphanet34 C536356, D013103
UMLS via Orphanet61 C0037889, C0221409
ICD1025 D58.0

Summaries for Hereditary Spherocytosis

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NIH Rare Diseases:41 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. An important gene associated with Hereditary Spherocytosis is SLC4A1 (solute carrier family 4 (anion exchanger), member 1 (Diego blood group)), 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.

Disease Ontology:9 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: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:63 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, Type 4 Spherocytosis, Hereditary, Type 5
Epb42-Related Hereditary Spherocytosis Slc4a1-Related Spherocytosis
Ank1-Related Spherocytosis Spta1-Related Spherocytosis
Epb42-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 152)
idRelated DiseaseScoreTop Affiliating Genes
1hemolytic anemia31.2PKLR
2pyropoikilocytosis30.9SPTA1
3hereditary elliptocytosis30.8SPTB, SPTA1, RHD, SLC4A1
4sickle cell anemia30.8SPTB
5congenital hemolytic anemia30.6SPTB, PKLR
6neonatal jaundice30.5UGT1A1, RHD
7thalassemia30.5SLC4A1, HBG1, UGT1A1, SPTB
8kernicterus30.5UGT1A1, RHD
9sickle cell disease30.1UGT1A1, HBG1, RHD
10thalassemias, alpha-30.1UGT1A1, HBG1
11trichomegaly, cataract, and hereditary spherocytosis10.6
12hemochromatosis10.5
13hidradenitis suppurativa10.5
14hemoglobin h disease, nondeletional10.4
15gilbert syndrome10.4
16splenic infarction10.4
17spherocytosis, hereditary, type 510.4
18pancytopenia10.4
19mediastinitis10.4
20epb42-related hereditary spherocytosis10.4
21sarcoma10.4
22pyruvate kinase deficiency10.3
23renal tubular acidosis10.3
24splenic sequestration10.3
25cholelithiasis10.3
26angioid streaks10.3
27protein c deficiency10.3
28histiocytosis-lymphadenopathy plus syndrome10.3
29spherocytosis, type 110.2
30moyamoya disease10.2
31cerebritis10.2
32neuropathy10.2
33pulmonary embolism10.2
34vesiculitis10.2
35histiocytic sarcoma10.2
36congenital dyserythropoietic anemia10.2RHD, SLC4A1
37dyschromatosis symmetrica hereditaria10.2
38dowling-degos disease 110.2
39reticulate acropigmentation of kitamura10.2
40dowling-degos disease 210.2
41temporal lobe epilepsy10.2
42hidradenitis10.2
43mesial temporal lobe epilepsy with hippocampal sclerosis10.2
44hyperornithinemia-hyperammonemia-homocitrullinemia syndrome10.1
45factor v deficiency10.1
46crigler-najjar syndrome, type ii10.1
47polycythemia vera10.1
48dubin-johnson syndrome10.1
49aplastic anemia10.1
50pulmonary hypertension10.1

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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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:

31
Spleen, Skin, Testes, Eye, Heart, Bone, Bone marrow, Brain, Spinal cord, Lung, Neutrophil

Animal Models for Hereditary Spherocytosis or affiliated genes

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MGI Mouse Phenotypes related to Hereditary Spherocytosis:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.2ANK1, BLOC1S6, SPTA1
2MP:00053678.9BLOC1S6, SPTB, ANK1, SLC4A1, SPTA1
3MP:00053788.4SLC4A1, ANK1, ANXA7, BLOC1S6, SPTA1, SPTB
4MP:00053858.3ANXA7, SPTA1, ANK1, BLOC1S6, SPTB, SLC4A1
5MP:00107687.5SPTB, PKLR, ANXA7, BLOC1S6, SLC4A1, SLC29A3
6MP:00053877.3PKLR, SLC29A3, SLC4A1, BLOC1S6, ANK1, ANXA7
7MP:00053767.2BLOC1S6, EPB42, ANXA7, ANK1, PKLR, SPTB
8MP:00053977.0SPTB, ANXA7, SLC4A1, SLC29A3, RHD, PKLR

Publications for Hereditary Spherocytosis

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Articles related to Hereditary Spherocytosis:

(show top 50)    (show all 538)
idTitleAuthorsYear
1
Klebsiella brain abscess in an infant with hereditary spherocytosis. (25691204)
2015
2
Towards the harmonization of result presentation for the eosin-5'- maleimide (EMA) binding test in the diagnosis of hereditary spherocytosis. (25178480)
2014
3
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
4
Toward the harmonization of result presentation for the eosin-5'-maleimide binding test in the diagnosis of hereditary spherocytosis. (25227211)
2014
5
Is activity restriction appropriate for patients with hereditary spherocytosis? A population-based analysis. (23307599)
2013
6
Flow cytometry test for hereditary spherocytosis. (23204480)
2012
7
Ganglioneuroma in a child with hereditary spherocytosis. (22734309)
2012
8
Proteomic identification of erythrocyte membrane protein deficiency in hereditary spherocytosis. (21706353)
2012
9
Partial splenectomy for hereditary spherocytosis: a multi-institutional review. (21238662)
2011
10
Protein 4.2 interaction with hereditary spherocytosis mutants of the cytoplasmic domain of human anion exchanger 1. (21039340)
2011
11
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
12
Evaluation of mean sphered corpuscular volume for predicting hereditary spherocytosis. (20136849)
2010
13
Perioperative implications of hereditary spherocytosis in coronary artery surgery. (19640740)
2010
14
Novel beta-spectrin mutations in hereditary spherocytosis associated with decreased levels of mRNA. (19538529)
2009
15
Laboratory markers of thrombosis risk in children with hereditary spherocytosis. (17854065)
2007
16
Kernicterus associated with hereditary spherocytosis and UGT1A1 promoter polymorphism. (16735790)
2006
17
Hereditary spherocytosis -- prevalence of erythrocyte membrane protein deficiency]. (12828006)
2003
18
Follow-up of partial splenectomy in children with hereditary spherocytosis. (12378454)
2002
19
Flow-cytometric analysis of erythrocytes and reticulocytes in congenital dyserythropoietic anaemia type II (CDA II): value in differential diagnosis with hereditary spherocytosis. (11422224)
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--&gt;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
Red cell membrane protein abnormalities in hereditary spherocytosis in Brazil. (7803273)
1994
36
Combined ankyrin and spectrin deficiency in hereditary spherocytosis. (8347735)
1993
37
Coexistence of hereditary spherocytosis (HS) due to band 3 deficiency and beta-thalassaemia trait: partial correction of HS phenotype. (8136278)
1993
38
Measurements of cell volume and hemoglobin concentration of erythrocytes from hereditary ovalocytosis and hereditary spherocytosis. (1402474)
1992
39
Occult hereditary spherocytosis and human parvovirus infection. (1767699)
1991
40
Changes in proteolytic susceptibility of erythrocyte membrane proteins in hereditary spherocytosis. (1889126)
1991
41
Phosphoinositide signalling system in red blood cells of patients with hereditary spherocytosis. (1650191)
1991
42
Linkage of dominant hereditary spherocytosis to the gene for the erythrocyte membrane-skeleton protein ankyrin. (1977081)
1990
43
Variable clinical severity of hereditary spherocytosis: relation to erythrocytic spectrin concentration, osmotic fragility, and autohemolysis. (2391596)
1990
44
T lymphocyte subsets, natural killer cell cytotoxicity and autologous mixed lymphocyte response in children after splenectomy because of hereditary spherocytosis. (2534277)
1989
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:

6 (show all 46)
id Gene Variation Type Significance SNP ID Assembly Location
1SPTA1SPTA1, IVS36, A-G, -1single nucleotide variantPathogenic
2SPTA1SPTA1, IVS30, C-T, -99single nucleotide variantPathogenic
3SLC29A3NM_018344.5(SLC29A3): c.1228C> T (p.Gln410Ter)single nucleotide variantPathogenicGRCh37Chr 10, 73122165: 73122165
4SLC29A3NM_018344.5(SLC29A3): c.300+1G> Asingle nucleotide variantPathogenicGRCh37Chr 10, 73082812: 73082812
5EPB42NM_000119.2(EPB42): c.424G> A (p.Ala142Thr)single nucleotide variantPathogenicrs104894487GRCh37Chr 15, 43507389: 43507389
6EPB42NM_000119.2(EPB42): c.265delG (p.Val89Trpfs)deletionPathogenicrs266257354GRCh37Chr 15, 43508487: 43508487
7EPB42NM_000119.2(EPB42): c.929G> A (p.Arg310Gln)single nucleotide variantPathogenicrs121917734GRCh37Chr 15, 43500967: 43500967
8EPB42NM_000119.2(EPB42): c.922+1G> Asingle nucleotide variantPathogenicrs266257355GRCh37Chr 15, 43501471: 43501471
9EPB42NM_000119.2(EPB42): c.1747G> T (p.Glu583Ter)single nucleotide variantPathogenicrs115998465GRCh37Chr 15, 43495435: 43495435
10EPB42NM_000119.2(EPB42): c.523G> T (p.Asp175Tyr)single nucleotide variantPathogenicrs143682977GRCh38Chr 15, 43211532: 43211532
11EPB42NM_000119.2(EPB42): c.920C> T (p.Thr307Ile)single nucleotide variantPathogenicrs515726211GRCh38Chr 15, 43209276: 43209276
12EPB42NM_000119.2(EPB42): c.949C> T (p.Arg317Cys)single nucleotide variantPathogenicrs515726212GRCh38Chr 15, 43208749: 43208749
13EPB42NM_000119.2(EPB42): c.950delG (p.Arg317Profs)deletionPathogenicrs515726213GRCh38Chr 15, 43208748: 43208748
14EPB42NM_000119.2(EPB42): c.1699G> A (p.Ala567Thr)single nucleotide variantPathogenicrs45495503GRCh38Chr 15, 43206339: 43206339
15EPB42NM_000119.2(EPB42): c.286+6T> Asingle nucleotide variantPathogenicrs515726214GRCh38Chr 15, 43216262: 43216262
16SLC4A1NM_000342.3(SLC4A1): c.-62G> Asingle nucleotide variantPathogenicrs387906565GRCh37Chr 17, 42340296: 42340296
17SLC4A1NM_000342.3(SLC4A1): c.980C> G (p.Pro327Arg)single nucleotide variantPathogenicrs28931583GRCh37Chr 17, 42335888: 42335888
18SLC4A1NM_000342.3(SLC4A1): c.118G> A (p.Glu40Lys)single nucleotide variantPathogenicrs45562031GRCh37Chr 17, 42338993: 42338993
19SLC4A1NM_000342.3(SLC4A1): c.2464_2465insCACCCAGATG (p.Val822Alafs)insertionPathogenicrs387906566GRCh37Chr 17, 42328803: 42328804
20SLC4A1NM_000342.3(SLC4A1): c.2312G> A (p.Gly771Asp)single nucleotide variantPathogenicrs121912741GRCh37Chr 17, 42328956: 42328956
21SLC4A1NM_000342.3(SLC4A1): c.988C> T (p.Gln330Ter)single nucleotide variantPathogenicrs121912742GRCh37Chr 17, 42335880: 42335880
22SLC4A1NM_000342.3(SLC4A1): c.448C> T (p.Arg150Ter)single nucleotide variantPathogenicrs56361140GRCh37Chr 17, 42337809: 42337809
23SLC4A1NM_000342.3(SLC4A1): c.388G> A (p.Gly130Arg)single nucleotide variantPathogenicrs121912749GRCh37Chr 17, 42337869: 42337869
24SLC4A1NM_000342.3(SLC4A1): c.2509A> G (p.Thr837Ala)single nucleotide variantPathogenicrs121912750GRCh37Chr 17, 42328673: 42328673
25SLC4A1NM_000342.3(SLC4A1): c.1462G> A (p.Val488Met)single nucleotide variantPathogenicrs28931584GRCh37Chr 17, 42334882: 42334882
26SLC4A1NM_000342.3(SLC4A1): c.268G> A (p.Glu90Lys)single nucleotide variantPathogenicrs28929480GRCh37Chr 17, 42338084: 42338084
27SLC4A1NM_000342.3(SLC4A1): c.2608C> T (p.Arg870Trp)single nucleotide variantPathogenicrs28931585GRCh37Chr 17, 42328574: 42328574
28SLC4A1NM_000342.3(SLC4A1): c.2279G> A (p.Arg760Gln)single nucleotide variantPathogenicrs121912755GRCh37Chr 17, 42330518: 42330518
29SLC29A3SLC29A3, IVS2, G-A, +1single nucleotide variantPathogenic
30SLC29A3SLC29A3, PHE103TERundetermined variantPathogenic
31SLC29A3NM_018344.5(SLC29A3): c.1088G> A (p.Arg363Gln)single nucleotide variantPathogenicrs387907066GRCh37Chr 10, 73122025: 73122025
32SLC29A3NM_018344.5(SLC29A3): c.1087C> T (p.Arg363Trp)single nucleotide variantPathogenicrs387907067GRCh37Chr 10, 73122024: 73122024
33SLC29A3SLC29A3, 1-BP DEL, 243AdeletionPathogenic
34SLC29A3NM_018344.5(SLC29A3): c.1157G> A (p.Arg386Gln)single nucleotide variantPathogenicrs397515429GRCh37Chr 10, 73122094: 73122094
35SLC29A3NM_018344.5(SLC29A3): c.607T> C (p.Ser203Pro)single nucleotide variantPathogenicrs397514626GRCh37Chr 10, 73111542: 73111542
36ANK1NM_001142446.1(ANK1): c.5128G> T (p.Glu1710Ter)single nucleotide variantPathogenicrs137852829GRCh37Chr 8, 41529963: 41529963
37ANK1NM_001142446.1(ANK1): c.5286G> A (p.Trp1762Ter)single nucleotide variantPathogenicrs137852830GRCh37Chr 8, 41526016: 41526016
38ANK1NM_001142446.1(ANK1): c.5620C> T (p.Arg1874Ter)single nucleotide variantPathogenicrs137852831GRCh37Chr 8, 41519441: 41519441
39ANK1NM_001142446.1(ANK1): c.1618dupC (p.Leu540Profs)duplicationPathogenicrs397514029GRCh37Chr 8, 41573252: 41573253
40SLC29A3NM_018344.5(SLC29A3): c.1279G> A (p.Gly427Ser)single nucleotide variantPathogenicrs121912583GRCh37Chr 10, 73122216: 73122216
41SLC29A3NM_018344.5(SLC29A3): c.1330G> T (p.Glu444Ter)single nucleotide variantPathogenicrs267607056GRCh37Chr 10, 73122267: 73122267
42SLC29A3NM_018344.5(SLC29A3): c.1309G> A (p.Gly437Arg)single nucleotide variantPathogenicrs121912584GRCh37Chr 10, 73122246: 73122246
43SLC29A3SLC29A3, 1-BP DEL, 1045CdeletionPathogenic
44SLC29A3SLC29A3, 1-BP DEL, 940TdeletionPathogenic
45SLC29A3NM_018344.5(SLC29A3): c.347T> G (p.Met116Arg)single nucleotide variantPathogenicrs267607057GRCh37Chr 10, 73104012: 73104012
46SLC29A3NM_018344.5(SLC29A3): c.1346C> G (p.Thr449Arg)single nucleotide variantPathogenicrs267607058GRCh37Chr 10, 73122283: 73122283

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
9.8SPTA1, SPTB
29.6ANK1, SPTA1, SPTB
3
Show member pathways
8.9PKLR, ANK1, SPTA1, SPTB

Compounds for genes affiliated with Hereditary Spherocytosis

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Sources:
43Novoseek, 28IUPHAR, 12DrugBank
See all sources

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

(show all 11)
idCompoundScoreTop Affiliating Genes
1naoh4310.0RHD, SLC4A1
2oxalate4310.0RHD, SLC4A1
3dids43 2810.9RHD, SLC4A1
4benzidine439.6HBG1, UGT1A1
5phospholipid439.2SLC4A1, ANXA7, RHD
6phosphatidylserine43 28 1211.2RHD, ANK1, ANXA7, SPTB
7leucine439.0SLC4A1, HBG1, UGT1A1, SPTB
8glucose438.9SLC4A1, RHD, SPTB, PKLR
9glyceraldehyde 3-phosphate438.6SPTB, HBG1, PKLR, RHD, SLC4A1
10tyrosine438.2RHD, PKLR, ANK1, UGT1A1, SLC4A1
11lipid438.1ANXA7, SPTB, ANK1, SRI, RHD, SLC4A1

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
1cortical cytoskeletonGO:00308639.8EPB42, ANK1, SLC4A1
2spectrin-associated cytoskeletonGO:00147319.7ANK1, SPTA1, SPTB
3spectrinGO:00080919.7SPTA1, SPTB
4intrinsic component of the cytoplasmic side of the plasma membraneGO:00312359.5SPTA1, SPTB
5sarcoplasmic reticulumGO:00165299.4SRI, ANK1
6chromaffin granule membraneGO:00425849.2SRI, ANXA7
7Z discGO:00300189.1ANK1, SRI, SLC4A1
8cytosolGO:00058296.8SPTB, SPTA1, BLOC1S6, HBG1, ANXA7, ANK1

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1plasma membrane organizationGO:00070099.9SPTA1, SPTB
2actin filament cappingGO:00516939.8SPTA1, SPTB
3porphyrin-containing compound biosynthetic processGO:00067799.7ANK1, SPTA1, SPTB
4hemopoiesisGO:00300979.5SPTA1, SPTB
5axon guidanceGO:00074119.5SPTB, SPTA1, ANK1
6regulation of cell shapeGO:00083609.4SPTA1, EPB42, ANXA7
7response to nutrientGO:00075849.4UGT1A1, PKLR

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

idNameGO IDScoreTop Affiliating Genes
1ankyrin bindingGO:00305069.6SLC4A1, SPTB
2actin filament bindingGO:00510159.4SPTA1, BLOC1S6, SPTB
3structural constituent of cytoskeletonGO:00052009.3ANK1, EPB42, SPTA1, SPTB
4protein heterodimerization activityGO:00469828.5SRI, SPTB, SPTA1, UGT1A1
5protein bindingGO:00055157.3SLC4A1, SRI, ANXA7, SPTB, ANK1, BLOC1S6

Products for genes affiliated with Hereditary Spherocytosis

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Sources for Hereditary Spherocytosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet