HS
MCID: HRD011
MIFTS: 62

Hereditary Spherocytosis (HS) malady

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

Summaries for Hereditary Spherocytosis

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44NIH Rare Diseases, 66Wikipedia, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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: Hereditary Spherocytosis, also known as congenital spherocytic hemolytic anemia, is related to hemolytic anemia and hereditary elliptocytosis. 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 L1CAM interactions. The compounds naoh and oxalate have been mentioned in the context of this disorder. Affiliated tissues include spleen, testes and skin, and related mouse phenotypes are liver/biliary system and renal/urinary system.

Wikipedia:66 Hereditary spherocytosis (also known as Minkowski?Chauffard syndrome) is a non immune-mediated hemolytic... more...

Description from OMIM:48 182900

Aliases & Classifications for Hereditary Spherocytosis

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63UMLS, 9Disease Ontology, 44NIH Rare Diseases, 23GTR, 22Genetics Home Reference, 11DISEASES, 48OMIM, 46Novoseek, 36MeSH, 28ICD9CM, 59SNOMED-CT, 26ICD10
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Classifications:

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


Aliases & Descriptions:

hereditary spherocytosis 9 44 23 22 11 63
congenital spherocytic hemolytic anemia 9 44 22
congenital spherocytosis 44 22
spherocytosis, type 1 22 48
spherocytic anemia 44 22
minkowski chauffard syndrome 9
spherocytosis hereditary 46
anemia spherocytic 9
hartnup disease 63
h disease 46
hs 22


External Ids:

Disease Ontology9 DOID:12971
MeSH36 D013103
SNOMED-CT59 154795009, 55995005
ICD9CM28 282.0
ICD1026 D58.0

Related Diseases for Hereditary Spherocytosis

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18GeneCards, 19GeneDecks
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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 148)
idRelated DiseaseScoreTop Affiliating Genes
1hemolytic anemia30.7RHD, ANK1, SLC4A1, SPTB
2hereditary elliptocytosis30.5SLC4A1, SPTA1, SPTB, RHD
3pyropoikilocytosis30.4SPTA1
4kernicterus30.2RHD
5alpha thalassemia30.1SLC4A1, SPTB
6beta thalassemia30.1RHD, SPTB
7protein s deficiency30.0RHD, SPTB
8trichomegaly, cataract, and hereditary spherocytosis10.6
9hemochromatosis10.5
10splenic infarction10.4
11thalassemia10.4
12hidradenitis suppurativa10.4
13sarcoma10.4
14gilbert syndrome10.4
15pancytopenia10.4
16hypertension10.4
17mediastinitis10.4
18hemoglobin h disease, nondeletional10.3
19splenic sequestration10.3
20angioid streaks10.3
21protein c deficiency10.3
22renal tubular acidosis10.3
23spherocytosis, hereditary, type 510.3
24histiocytic sarcoma10.2
25cholelithiasis10.2
26cerebritis10.2
27moyamoya disease10.2
28congenital hemolytic anemia10.2
29neuropathy10.2
30pulmonary embolism10.2
31epb42-related hereditary spherocytosis10.2
32pyruvate kinase deficiency10.2
33thromboembolism10.2
34sepsis10.2
35vesiculitis10.2
36temporal lobe epilepsy10.2
37dowling-degos disease10.2
38dyschromatosis symmetrica hereditaria 110.2
39dowling-degos disease 110.2
40dowling-degos disease 210.2
41insulin resistance10.2
42mesial temporal lobe epilepsy with hippocampal sclerosis10.2
43clear cell sarcoma10.1
44kawasaki disease10.1
45adenocarcinoma10.1
46periodontitis10.1
47pleomorphic rhabdomyosarcoma10.1
48protein-energy malnutrition10.1
49rhabdomyosarcoma10.1
50synovial sarcoma10.1

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



Diseases related to hereditary spherocytosis

Symptoms for Hereditary Spherocytosis

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48OMIM
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Symptoms by clinical synopsis from OMIM:

182900

Clinical features from OMIM:

182900

Drugs & Therapeutics for Hereditary Spherocytosis

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Hereditary Spherocytosis

Drug clinical trials:

Search ClinicalTrials for Hereditary Spherocytosis

Search NIH Clinical Center for Hereditary Spherocytosis

Search CenterWatch for Hereditary Spherocytosis

Genetic Tests for Hereditary Spherocytosis

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23GTR
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Genetic tests related to Hereditary Spherocytosis:

id Genetic test Affiliating Genes
1 Hereditary Spherocytosis23

Anatomical Context for Hereditary Spherocytosis

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34MalaCards
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MalaCards organs/tissues related to Hereditary Spherocytosis:

34
Spleen, Testes, Skin, Heart, Bone, Bone marrow, Spinal cord, Lung

Animal Models for Hereditary Spherocytosis or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Hereditary Spherocytosis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.4ANK1, SPTA1, SPTB
2MP:00053678.3SPTA1, SLC4A1, ANK1, SPTB
3MP:00053788.3SLC4A1, ANK1, SPTA1, SPTB
4MP:00053858.2SLC4A1, ANK1, SPTA1, SPTB
5MP:00053877.7SLC4A1, ANK1, SPTA1, SPTB, EPB42
6MP:00053977.3SPTB, SPTA1, EPB42, ANK1, RHD, SLC4A1
7MP:00053767.2ANK1, SPTA1, EPB42, RHD, SLC4A1, SPTB

Publications for Hereditary Spherocytosis

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53PubMed
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Articles related to Hereditary Spherocytosis:

(show top 50)    (show all 502)
idTitleAuthorsYear
1
Is activity restriction appropriate for patients with hereditary spherocytosis? A population-based analysis. (23307599)
2013
2
Flow cytometry test for hereditary spherocytosis. (23204480)
2012
3
Ganglioneuroma in a child with hereditary spherocytosis. (22734309)
2012
4
Proteomic identification of erythrocyte membrane protein deficiency in hereditary spherocytosis. (21706353)
2012
5
Anesthetic management of a patient with hereditary spherocytosis for laparoscopic cholecystectomy and splenectomy. (23495352)
2012
6
Partial splenectomy for hereditary spherocytosis: a multi-institutional review. (21238662)
2011
7
Protein 4.2 interaction with hereditary spherocytosis mutants of the cytoplasmic domain of human anion exchanger 1. (21039340)
2011
8
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
9
Evaluation of mean sphered corpuscular volume for predicting hereditary spherocytosis. (20136849)
2010
10
Perioperative implications of hereditary spherocytosis in coronary artery surgery. (19640740)
2010
11
Novel beta-spectrin mutations in hereditary spherocytosis associated with decreased levels of mRNA. (19538529)
2009
12
Laboratory markers of thrombosis risk in children with hereditary spherocytosis. (17854065)
2007
13
Painful sensory neuropathy associated with hereditary spherocytosis. (17265023)
2007
14
Kernicterus associated with hereditary spherocytosis and UGT1A1 promoter polymorphism. (16735790)
2006
15
Hereditary spherocytosis -- prevalence of erythrocyte membrane protein deficiency]. (12828006)
2003
16
Follow-up of partial splenectomy in children with hereditary spherocytosis. (12378454)
2002
17
Flow-cytometric analysis of erythrocytes and reticulocytes in congenital dyserythropoietic anaemia type II (CDA II): value in differential diagnosis with hereditary spherocytosis. (11422224)
2001
18
Arterial elastorrhexis in beta-thalassaemia intermedia, sickle cell thalassaemia and hereditary spherocytosis. (11737245)
2001
19
Hereditary spherocytosis in zebrafish riesling illustrates evolution of erythroid beta-spectrin structure, and function in red cell morphogenesis and membrane stability. (11060238)
2000
20
Low frequency of ankyrin mutations in hereditary spherocytosis: identification of three novel mutations. (11102985)
2000
21
Inherited protein C deficiency, protein S deficiency and hyperhomocysteinaemia in a patient with hereditary spherocytosis. (10448604)
1999
22
Coinheritance of Gilbert syndrome increases the risk for developing gallstones in patients with hereditary spherocytosis. (10498597)
1999
23
UGT1 promoter polymorphism accounts for increased neonatal appearance of hereditary spherocytosis. (9446675)
1998
24
Hereditary spherocytosis: from clinical to molecular defects. (9573679)
1998
25
Frequent de novo monoallelic expression of beta-spectrin gene (SPTB) in children with hereditary spherocytosis and isolated spectrin deficiency. (9609518)
1998
26
Modulation of clinical expression and band 3 deficiency in hereditary spherocytosis. (9207478)
1997
27
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
28
Total absence of protein 4.2 and partial deficiency of band 3 in hereditary spherocytosis. (9401060)
1997
29
A nonsense mutation in the erythrocyte band 3 gene associated with decreased mRNA accumulation in a kindred with dominant hereditary spherocytosis. (8567957)
1996
30
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
31
Isolated weakness of the extensor hallucis longus in a patient with hereditary spherocytosis. (7767444)
1995
32
Acute lymphoblastic leukaemia in a child with hereditary spherocytosis. (8582429)
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
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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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Hereditary Spherocytosis:

65
id Symbol AA change Variation ID SNP ID
1ANK1p.Val463IleVAR_000596
2ANK1p.Leu276ArgVAR_054991
3ANK1p.Ile1054ThrVAR_054992

Clinvar genetic disease variations for Hereditary Spherocytosis:

1
id Gene Name Type Significance SNP ID Assembly Location
1ANK1NM_001142446.1(ANK1): c.5128G> T (p.Glu1710Ter)single nucleotide variantPathogenicrs137852829GRCh37Chr 8, 41529963: 41529963
2ANK1NM_001142446.1(ANK1): c.5286G> A (p.Trp1762Ter)single nucleotide variantPathogenicrs137852830GRCh37Chr 8, 41526016: 41526016
3ANK1NM_001142446.1(ANK1): c.5620C> T (p.Arg1874Ter)single nucleotide variantPathogenicrs137852831GRCh37Chr 8, 41519441: 41519441
4ANK1NM_001142446.1(ANK1): c.1618dupC (p.Leu540Profs)duplicationPathogenicrs397514029GRCh37Chr 8, 41573252: 41573253

Expression for genes affiliated with Hereditary Spherocytosis

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2BioGPS, 16Gene Expression Omnibus DataSets
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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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51PathCards, 56Reactome
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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
9.1SPTA1, SPTB
2
Show member pathways
8.7ANK1, SPTA1, SPTB
38.7ANK1, SPTA1, SPTB

Compounds for genes affiliated with Hereditary Spherocytosis

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46Novoseek, 30IUPHAR, 12DrugBank
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Compounds related to Hereditary Spherocytosis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1naoh469.6SLC4A1, RHD
2oxalate469.5RHD, SLC4A1
3dids46 3010.4RHD, SLC4A1
4bicarbonate469.1RHD, SLC4A1
5phosphatidylserine46 30 1210.8RHD, ANK1, SPTB
6glyceraldehyde 3-phosphate468.6SLC4A1, RHD, SPTB
7glucose468.6SLC4A1, RHD, SPTB
8lipid468.1SLC4A1, RHD, ANK1, SPTB

GO Terms for genes affiliated with Hereditary Spherocytosis

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17Gene Ontology
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Cellular components related to Hereditary Spherocytosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1Z discGO:0300189.5SLC4A1, ANK1
2basolateral plasma membraneGO:0163239.3SLC4A1, ANK1
3cortical cytoskeletonGO:0308639.2EPB42, ANK1, SLC4A1
4spectrinGO:0080919.2SPTA1, SPTB
5intrinsic component of the cytoplasmic side of the plasma membraneGO:0312359.1SPTA1, SPTB
6actin cytoskeletonGO:0156299.1SPTB, SPTA1
7spectrin-associated cytoskeletonGO:0147318.9ANK1, SPTA1, SPTB

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

idNameGO IDScoreTop Affiliating Genes
1regulation of cell shapeGO:0083609.4EPB42, SPTA1
2plasma membrane organizationGO:0070099.2SPTA1, SPTB
3actin filament cappingGO:0516939.1SPTA1, SPTB
4porphyrin-containing compound biosynthetic processGO:0067798.8ANK1, SPTA1, SPTB
5hemopoiesisGO:0300978.8SPTA1, SPTB
6axon guidanceGO:0074118.6SPTA1, ANK1, SPTB

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

idNameGO IDScoreTop Affiliating Genes
1ankyrin bindingGO:0305069.1SPTB, SLC4A1
2actin filament bindingGO:0510158.8SPTA1, SPTB
3structural constituent of cytoskeletonGO:0052008.2ANK1, EPB42, SPTA1, SPTB
4protein bindingGO:0055157.7SPTA1, SPTB, ANK1, SLC4A1, EPB42

Products for genes affiliated with Hereditary Spherocytosis

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Sources for Hereditary Spherocytosis

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet