MCID: HRD011
MIFTS: 51

Hereditary Spherocytosis malady

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

Aliases & Classifications for Hereditary Spherocytosis

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Sources:
11Disease Ontology, 46NIH Rare Diseases, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 25GTR, 48Novoseek, 37MeSH, 66UMLS, 28ICD10, 30ICD9CM, 43NCIt, 67UMLS via Orphanet, 29ICD10 via Orphanet, 38MESH via Orphanet, 60SNOMED-CT
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Aliases & Descriptions for Hereditary Spherocytosis:

Name: Hereditary Spherocytosis 11 46 24 13 52 25 66
Congenital Spherocytic Hemolytic Anemia 11 46 24
Spherocytic Anemia 11 46 24
Congenital Spherocytosis 46 24
Spherocytosis, Type 1 24 66
Anemia, Hereditary Spherocytic Hemolytic 66
 
Minkowski Chauffard Syndrome 11
Minkowski-Chauffard Disease 52
Spherocytosis, Hereditary 37
Spherocytosis Hereditary 48
Hs 24

Characteristics:

Orphanet epidemiological data:

52
hereditary spherocytosis:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-5/10000 (Germany),1-5/10000 (United States),1-5/10000 (Europe); Age of onset: All ages; Age of death: normal life expectancy

Classifications:



External Ids:

Disease Ontology11 DOID:12971
ICD1028 D58.0
ICD9CM30 282.0
MeSH37 D013103
NCIt43 C97074
SNOMED-CT60 154795009, 55995005
Orphanet52 ORPHA822
UMLS via Orphanet67 C0037889, C0221409
ICD10 via Orphanet29 D58.0
MESH via Orphanet38 C536356, D013103

Summaries for Hereditary Spherocytosis

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NIH Rare Diseases:46 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: 9/15/2016

MalaCards based summary: Hereditary Spherocytosis, also known as congenital spherocytic hemolytic anemia, is related to pyropoikilocytosis and pyruvate kinase deficiency, and has symptoms including yellow complexion and hepatocellular jaundice. An important gene associated with Hereditary Spherocytosis is ANK1 (Ankyrin 1), 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 immune system.

Disease Ontology:11 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:24 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:69 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 121)
idRelated DiseaseScoreTop Affiliating Genes
1pyropoikilocytosis30.7SPTA1, SPTB
2pyruvate kinase deficiency30.7HFE, PKLR, SLC4A1
3sickle cell anemia30.2HFE, RHD, UGT1A1
4hepatitis29.7ANK1, EPB42, PKLR, SLC4A1, SPTA1, SPTB
5epb42-related hereditary spherocytosis12.1
6trichomegaly, cataract, and hereditary spherocytosis12.0
7spherocytosis, type 111.3
8sptb-related spherocytosis11.3
9spherocytosis, type 311.0
10spherocytosis, hereditary, type 511.0
11spherocytosis, type 411.0
12epidermolysis bullosa dystrophica, ar10.9
13severe generalized recessive dystrophic epidermolysis bullosa10.9
14recessive dystrophic epidermolysis bullosa-generalized other10.9
15hinman syndrome10.9
16hidradenitis suppurativa10.8
17spastic paraplegia 18, autosomal recessive10.7ANK1, SPTB
18epb42-related spherocytosis10.6MIR7855, SPTB
19articulation disorder10.5RHD, SLC4A1
20renal artery disease10.4PKLR, UGT1A1
21larynx sarcoma10.3PKLR, UGT1A1
22hemolytic anemia10.3
23hemochromatosis10.2
24hereditary elliptocytosis10.2
25splenic infarction10.2
26wernicke encephalopathy10.2SLC4A1, UGT1A1
27thalassemia10.2
28gilbert syndrome10.2
29wolff mental retardation syndrome10.2CD47, GYPB, RHD
30dyschromatosis symmetrica hereditaria10.1
31dowling-degos disease 110.1
32reticulate acropigmentation of kitamura10.1
33dowling-degos disease 210.1
34sarcoma10.1
35cholelithiasis10.1
36pancytopenia10.1
37mediastinitis10.1
38renal tubular acidosis10.0
39splenic sequestration10.0
40angioid streaks10.0
41protein c deficiency10.0
42encephalopathy10.0
43trichomegaly10.0
44pupil disease10.0ANK1, EPB41, MIR7855, SLC4A1, SPTA1, SPTB
45pre-eclampsia9.9
46eclampsia9.9
47hidradenitis9.9
48histiocytic sarcoma9.9
49moyamoya disease9.9
50coarctation of aorta9.9

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:


yellow complexion, hepatocellular jaundice

Drugs & Therapeutics for Hereditary Spherocytosis

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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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Genetic tests related to Hereditary Spherocytosis:

id Genetic test Affiliating Genes
1 Hereditary Spherocytosis25

Anatomical Context for Hereditary Spherocytosis

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MalaCards organs/tissues related to Hereditary Spherocytosis:

34
Spleen, Skin, Testes, Eye, Heart, Spinal cord, Bone

Animal Models for Hereditary Spherocytosis or affiliated genes

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MGI Mouse Phenotypes related to Hereditary Spherocytosis:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.6ABCB11, ANK1, EPB41, HFE, SPTA1, SPTB
2MP:00053878.0ANK1, ANXA7, BLOC1S6, CD47, EPB41, EPB42
3MP:00053977.5ANK1, ANXA7, BLOC1S6, CD47, EPB41, EPB42
4MP:00053767.1ABCB11, ANK1, ANXA7, BLOC1S6, CD47, EPB41

Publications for Hereditary Spherocytosis

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Articles related to Hereditary Spherocytosis:

(show top 50)    (show all 579)
idTitleAuthorsYear
1
Red blood cell aquaporin-1 expression is decreased in hereditary spherocytosis. (27465156)
2016
2
Topological Structures and Membrane Nanostructures of Erythrocytes after Splenectomy in Hereditary Spherocytosis Patients via Atomic Force Microscopy. (27557951)
2016
3
Next-generation osmotic gradient ektacytometry for the diagnosis of hereditary spherocytosis: interlaboratory method validation and experience. (27559691)
2016
4
Disease-modifying influences of coexistent G6PD-deficiency, Gilbert syndrome and deletional alpha thalassemia in hereditary spherocytosis: A report of three cases. (27108201)
2016
5
Early postnatal diagnosis of hereditary spherocytosis by combining light microscopy, acidified glycerol lysis test and eosin-5'-maleimide binding assay. (26336967)
2015
6
Towards the harmonization of result presentation for the eosin-5'- maleimide (EMA) binding test in the diagnosis of hereditary spherocytosis. (25178480)
2014
7
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
8
Toward the harmonization of result presentation for the eosin-5'-maleimide binding test in the diagnosis of hereditary spherocytosis. (25227211)
2014
9
Is activity restriction appropriate for patients with hereditary spherocytosis? A population-based analysis. (23307599)
2013
10
Partial versus total splenectomy in children with hereditary spherocytosis. (24074424)
2013
11
Ganglioneuroma in a child with hereditary spherocytosis. (22734309)
2012
12
Anesthetic management of a patient with hereditary spherocytosis for laparoscopic cholecystectomy and splenectomy. (23495352)
2012
13
Protein 4.2 interaction with hereditary spherocytosis mutants of the cytoplasmic domain of human anion exchanger 1. (21039340)
2011
14
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
15
Reliability of EMA binding test in the diagnosis of hereditary spherocytosis in Italian patients. (21150181)
2011
16
Splenectomy for hereditary spherocytosis: complete, partial or not at all? (22077527)
2011
17
Extramedullary haematopoiesis secondary to hereditary spherocytosis. (21517821)
2011
18
Effects of splenectomy for hereditary spherocytosis on glycated haemoglobin in a woman with Type 2 diabetes. (19646203)
2009
19
Laboratory markers of thrombosis risk in children with hereditary spherocytosis. (17854065)
2007
20
Painful sensory neuropathy associated with hereditary spherocytosis. (17265023)
2007
21
Structure of the cytoplasmic domain of erythrocyte band 3 hereditary spherocytosis variant P327R: band 3 Tuscaloosa. (17696498)
2007
22
Hereditary spherocytosis; new guidelines. (15321852)
2004
23
Guidelines for the diagnosis and management of hereditary spherocytosis. (15287938)
2004
24
Follow-up of partial splenectomy in children with hereditary spherocytosis. (12378454)
2002
25
Hereditary spherocytosis in zebrafish riesling illustrates evolution of erythroid beta-spectrin structure, and function in red cell morphogenesis and membrane stability. (11060238)
2000
26
Coinheritance of Gilbert syndrome increases the risk for developing gallstones in patients with hereditary spherocytosis. (10498597)
1999
27
Hereditary spherocytosis due to a novel frameshift mutation in AE1 cytoplasmic COOH terminal tail: band 3 Vesuvio. (10189204)
1999
28
The red blood cell band 3 variant (band 3BiceA-trel:R490C) associated with dominant hereditary spherocytosis causes defective membrane targeting of the molecule and a dominant negative effect. (10766130)
1999
29
UGT1 promoter polymorphism accounts for increased neonatal appearance of hereditary spherocytosis. (9446675)
1998
30
Hereditary spherocytosis: from clinical to molecular defects. (9573679)
1998
31
Two distinct truncated variants of ankyrin associated with hereditary spherocytosis. (9590147)
1998
32
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
33
Juvenile polyposis coli and associated anomalies. Review of the literature and report of a case associated with hereditary spherocytosis. (9646204)
1997
34
A nonsense mutation in the erythrocyte band 3 gene associated with decreased mRNA accumulation in a kindred with dominant hereditary spherocytosis. (8567957)
1996
35
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
36
Acute lymphoblastic leukaemia in a child with hereditary spherocytosis. (8582429)
1995
37
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
38
A novel mutation in the erythrocyte protein 4.2 gene of Japanese patients with hereditary spherocytosis (protein 4.2 Fukuoka). (7819064)
1994
39
Red cell membrane protein abnormalities in hereditary spherocytosis in Brazil. (7803273)
1994
40
Combined ankyrin and spectrin deficiency in hereditary spherocytosis. (8347735)
1993
41
Diagnosis of hereditary spherocytosis with dual-angle differential light scattering. (8356943)
1993
42
Open heart operation in patients suffering from hereditary spherocytosis. (8512401)
1993
43
Initial assessment of the beneficial effect of partial splenectomy in hereditary spherocytosis. (8471763)
1993
44
Changes in proteolytic susceptibility of erythrocyte membrane proteins in hereditary spherocytosis. (1889126)
1991
45
Concurrence of hereditary spherocytosis and alpha thalassaemia. (1953542)
1991
46
Hereditary spherocytosis associated with deletion of human erythrocyte ankyrin gene on chromosome 8. (2141669)
1990
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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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
1
Show member pathways
10.0ANK1, SPTA1, SPTB
210.0ANK1, SPTA1, SPTB

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
1spectrinGO:000809110.4EPB41, MIR7855, SPTA1, SPTB
2intrinsic component of the cytoplasmic side of the plasma membraneGO:003123510.3MIR7855, SPTA1, SPTB
3chromaffin granule membraneGO:004258410.3ANXA7, SRI
4Z discGO:003001810.3ANK1, SLC4A1, SRI
5cortical cytoskeletonGO:003086310.0EPB41, EPB42, GYPC, SLC4A1, SPTA1
6spectrin-associated cytoskeletonGO:00147319.9ANK1, EPB41, MIR7855, SPTA1, SPTB
7integral component of plasma membraneGO:00058878.4ABCB11, CD47, GYPB, GYPC, HFE, RHD
8plasma membraneGO:00058867.4ABCB11, ANK1, ANXA7, CD47, EPB41, EPB42

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

idNameGO IDScoreTop Affiliating Genes
1positive regulation of protein bindingGO:003209210.1EPB41, HFE, SPTA1
2actin filament cappingGO:00516939.8MIR7855, SPTA1, SPTB
3ER to Golgi vesicle-mediated transportGO:00068889.8ANK1, MIR7855, SPTA1, SPTB
4regulation of cell shapeGO:00083609.7ANXA7, EPB42, SPTA1
5response to organic cyclic compoundGO:00140709.3ANXA7, PKLR, UGT1A1

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

idNameGO IDScoreTop Affiliating Genes
1spectrin bindingGO:003050710.3ANK1, EPB41
2ankyrin bindingGO:003050610.3MIR7855, SLC4A1, SPTB
3actin filament bindingGO:00510159.9BLOC1S6, MIR7855, SPTA1, SPTB
4Ras guanyl-nucleotide exchange factor activityGO:00050889.7FGF5, MIR7855, SPTA1, SPTB
5actin bindingGO:00037799.6EPB41, MIR7855, SLC4A1, SPTB
6structural constituent of cytoskeletonGO:00052009.2ANK1, EPB41, EPB42, MIR7855, SPTA1, SPTB

Sources for Hereditary Spherocytosis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet