MCID: HRD011
MIFTS: 54

Hereditary Spherocytosis malady

Categories: Genetic diseases, Rare diseases, Immune diseases, Blood diseases

Aliases & Classifications for Hereditary Spherocytosis

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Sources:
23Genetics Home Reference, 65UMLS, 10Disease Ontology, 45NIH Rare Diseases, 12DISEASES, 51Orphanet, 47Novoseek, 36MeSH, 24GTR, 27ICD10, 29ICD9CM, 42NCIt, 59SNOMED-CT, 66UMLS via Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet
See all MalaCards 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
Spherocytosis, Hereditary 36 24
Congenital Spherocytosis 45 23
Spherocytosis, Type 1 23 65
Anemia, Hereditary Spherocytic Hemolytic 65
 
Minkowski Chauffard Syndrome 10
Minkowski-Chauffard Disease 51
Spherocytosis Hereditary 47
Hartnup Disease 65
H Disease 47
Hs 23

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

Classifications:



External Ids:

Disease Ontology10 DOID:12971
ICD1027 D58.0
ICD9CM29 282.0
MeSH36 D013103
NCIt42 C97074
SNOMED-CT59 154795009, 55995005
Orphanet51 822
UMLS via Orphanet66 C0037889, C0221409
ICD10 via Orphanet28 D58.0
MESH via Orphanet37 C536356, D013103
UMLS65 C0037889, C2674218, C0221409

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/or 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 hemoglobin h disease, nondeletional and pyropoikilocytosis, and has symptoms including hepatocellular jaundice, yellow complexion and juvenile spring eruption. An important gene associated with Hereditary Spherocytosis is ANK1 (Ankyrin 1), and among its related pathways are Interaction between L1 and Ankyrins and L1CAM interactions. 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 138)
idRelated DiseaseScoreTop Affiliating Genes
1hemoglobin h disease, nondeletional33.5G6PD, HBB, UGT1A1
2pyropoikilocytosis31.0SPTA1, SPTB
3neonatal jaundice30.6G6PD, SLC4A1, UGT1A1
4pyruvate kinase deficiency30.4G6PD, HFE, PKLR, SLC4A1
5familial adenomatous polyposis30.3GYPA, SPTB
6sickle cell anemia29.1G6PD, HBB, HFE, RHD, SPTB, UGT1A1
7epb42-related hereditary spherocytosis12.1
8trichomegaly, cataract, and hereditary spherocytosis12.0
9spherocytosis, type 111.3
10sptb-related spherocytosis11.3
11thalassemias, alpha-11.1
12alpha-thalassemia-myelodysplastic syndrome11.0
13spherocytosis, type 311.0
14spherocytosis, hereditary, type 511.0
15spherocytosis, type 411.0
16epidermolysis bullosa dystrophica, ar10.9
17recessive dystrophic epidermolysis bullosa-generalized other10.9
18severe generalized recessive dystrophic epidermolysis bullosa10.9
19hinman syndrome10.9
20alpha-thalassemia myelodysplasia syndrome, somatic10.8
21spastic paraplegia 18, autosomal recessive10.8ANK1, SPTB
22hidradenitis suppurativa10.8
23arterial calcification of infancy10.6CD47, RHD
24chronic congestive splenomegaly10.5ANK1, HBB
25glucosephosphate dehydrogenase deficiency10.5G6PD, PKLR
26pseudohypoparathyroidism10.5G6PD, RHD, SLC4A1
27wernicke encephalopathy10.4G6PD, PKLR, UGT1A1
28thbd-related atypical hemolytic-uremic syndrome10.3HBB, UGT1A1
29corneal disease10.3G6PD, UGT1A1
30hemolytic anemia10.3
31hemochromatosis10.2
32hereditary elliptocytosis10.2
33splenic infarction10.2
34marantic endocarditis10.2GYPA, HBB
35endometrial adenocarcinoma10.2G6PD, HBB, UGT1A1
36pulmonary alveolar proteinosis10.2HBB, HFE
37thalassemia10.2
38gilbert syndrome10.2
39mental retardation, x-linked 310.2G6PD, HBB, UGT1A1
40congenital nonspherocytic hemolytic anemia10.1G6PD, HBB, UGT1A1
41discitis10.1GYPA, RHD
42dyschromatosis symmetrica hereditaria10.1
43dowling-degos disease 110.1
44reticulate acropigmentation of kitamura10.1
45dowling-degos disease 210.1
46thalassemia-beta, dominant inclusion-body10.1G6PD, HBB, UGT1A1
47sarcoma10.1
48rheumatic fever10.1G6PD, HBB
49pancytopenia10.1
50mediastinitis10.1

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 for Hereditary Spherocytosis

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UMLS symptoms related to Hereditary Spherocytosis:


hepatocellular jaundice, yellow complexion, juvenile spring eruption, seizures

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
1Antioxidants2442
2PapayaNutraceutical15

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
5The Dallas Hereditary Spherocytosis Cohort StudyTerminatedNCT01141621
6Distal Pancreatectomy With Partial Splenectomy for Pancreatic TumorsWithdrawnNCT01412684

Search NIH Clinical Center for Hereditary Spherocytosis


Cochrane evidence based reviews: spherocytosis, hereditary

Genetic Tests for Hereditary Spherocytosis

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Anatomical Context for Hereditary Spherocytosis

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MalaCards organs/tissues related to Hereditary Spherocytosis:

33
Spleen, Skin, Testes, Eye, Heart, Kidney, Thyroid

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:00053709.5ADD2, ANK1, EPB41, HFE, SPTA1, SPTB
2MP:00053679.1ADD2, ANK1, BLOC1S6, EPB41, SLC4A1, SPTA1
3MP:00053858.0ADD2, ANK1, ANXA7, BLOC1S6, CD47, G6PD
4MP:00053876.9ADD2, ANK1, ANXA7, BLOC1S6, CD47, EPB41
5MP:00053766.8ADD2, ANK1, ANXA7, BLOC1S6, CD47, EPB41
6MP:00053976.4ADD2, ANK1, ANXA7, BLOC1S6, CD47, DMTN

Publications for Hereditary Spherocytosis

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Articles related to Hereditary Spherocytosis:

(show top 50)    (show all 573)
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
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
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
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
33
A novel mutation in the erythrocyte protein 4.2 gene of Japanese patients with hereditary spherocytosis (protein 4.2 Fukuoka). (7819064)
1994
34
Combined ankyrin and spectrin deficiency in hereditary spherocytosis. (8347735)
1993
35
Coexistence of hereditary spherocytosis (HS) due to band 3 deficiency and beta-thalassaemia trait: partial correction of HS phenotype. (8136278)
1993
36
Measurements of cell volume and hemoglobin concentration of erythrocytes from hereditary ovalocytosis and hereditary spherocytosis. (1402474)
1992
37
Occult hereditary spherocytosis and human parvovirus infection. (1767699)
1991
38
Changes in proteolytic susceptibility of erythrocyte membrane proteins in hereditary spherocytosis. (1889126)
1991
39
Phosphoinositide signalling system in red blood cells of patients with hereditary spherocytosis. (1650191)
1991
40
Linkage of dominant hereditary spherocytosis to the gene for the erythrocyte membrane-skeleton protein ankyrin. (1977081)
1990
41
T lymphocyte subsets, natural killer cell cytotoxicity and autologous mixed lymphocyte response in children after splenectomy because of hereditary spherocytosis. (2534277)
1989
42
Thrombotic thrombocytopenic purpura in an asplenic patient with hereditary spherocytosis: failure of plasmapheresis, antiplatelet therapy, and corticosteroids. (3189717)
1988
43
Inhibition of erythropoiesis by human parvovirus-containing serum from a patient with hereditary spherocytosis in aplastic crisis. (3020677)
1986
44
NH4Cl-HCO3(-)-mediated hemolytic reaction in the erythrocytes of hereditary spherocytosis. (3083532)
1986
45
Angioid streaks associated with hereditary spherocytosis. (6496630)
1984
46
Parvovirus infection in a family associated with aplastic crisis in an affected sibling pair with hereditary spherocytosis. (6092438)
1984
47
Identification of the molecular defect in the erythrocyte membrane skeleton of some kindreds with hereditary spherocytosis. (7104494)
1982
48
49
50

Variations for Hereditary Spherocytosis

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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 pathwaysScoreTop Affiliating Genes
110.0ANK1, SPTA1, SPTB
2
Show member pathways
10.0ANK1, SPTA1, SPTB
39.7ADD2, DMTN

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:003123510.8SPTA1, SPTB
2spectrinGO:000809110.6EPB41, SPTA1, SPTB
3cytosolGO:00058298.8ANK1, ANXA7, BLOC1S6, DMTN, HBB, SPTA1

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

idNameGO IDScoreTop Affiliating Genes
1erythrocyte maturationGO:004324910.6EPB42, G6PD
2regulation of cell shapeGO:00083609.5ANXA7, DMTN, SPTA1
3positive regulation of protein bindingGO:00320929.1ADD2, EPB41, HFE, SPTA1

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

idNameGO IDScoreTop Affiliating Genes
1actin filament bindingGO:00510159.5ADD2, BLOC1S6, SPTA1, SPTB

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