MCID: HRD011
MIFTS: 53

Hereditary Spherocytosis malady

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

Aliases & Classifications for Hereditary Spherocytosis

About this section
Sources:
11Disease Ontology, 13DISEASES, 25Genetics Home Reference, 26GTR, 29ICD10, 30ICD10 via Orphanet, 31ICD9CM, 38MeSH, 39MESH via Orphanet, 44NCIt, 47NIH Rare Diseases, 49Novoseek, 53Orphanet, 61SNOMED-CT, 67UMLS, 68UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Hereditary Spherocytosis:

Name: Hereditary Spherocytosis 11 47 25 53 26 13 67
Congenital Spherocytic Hemolytic Anemia 11 47 25
Spherocytic Anemia 11 47 25
Congenital Spherocytosis 47 25
Spherocytosis, Type 1 25 67
Anemia, Hereditary Spherocytic Hemolytic 67
 
Minkowski Chauffard Syndrome 11
Minkowski-Chauffard Disease 53
Spherocytosis, Hereditary 38
Spherocytosis Hereditary 49
Hs 25

Characteristics:

Orphanet epidemiological data:

53
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
ICD1029 D58.0
ICD9CM31 282.0
MeSH38 D013103
NCIt44 C97074
SNOMED-CT61 154795009, 55995005
Orphanet53 ORPHA822
MESH via Orphanet39 C536356, D013103
UMLS via Orphanet68 C0221409, C0037889
ICD10 via Orphanet30 D58.0

Summaries for Hereditary Spherocytosis

About this section
Genetics Home Reference:25 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.

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, testes and skin, and related mouse phenotypes are liver/biliary system and renal/urinary 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.

Wikipedia:70 Hereditary spherocytosis (also known as Minkowski–Chauffard syndrome) is an autosomal dominant... more...

Related Diseases for Hereditary Spherocytosis

About this section

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
1pyropoikilocytosis30.6SPTA1, SPTB
2pyruvate kinase deficiency30.5HFE, PKLR, SLC4A1
3sickle cell anemia30.1HFE, RHD, UGT1A1
4hepatitis29.6ANK1, EPB42, PKLR, SLC4A1, SPTA1, SPTB
5epb42-related hereditary spherocytosis12.0
6spherocytosis, type 111.6
7sptb-related spherocytosis11.5
8acne inversa, familial, 111.1
9dyschromatosis symmetrica hereditaria11.0
10dowling-degos disease 111.0
11reticulate acropigmentation of kitamura11.0
12dowling-degos disease 211.0
13trichomegaly10.9
14spherocytosis, type 310.9
15spherocytosis, hereditary, type 510.9
16spherocytosis, type 410.9
17epidermolysis bullosa dystrophica, ar10.8
18recessive dystrophic epidermolysis bullosa10.8
19recessive dystrophic epidermolysis bullosa-generalized other10.8
20hinman syndrome10.8
21spastic paraplegia 18, autosomal recessive10.7ANK1, SPTB
22epb42-related spherocytosis10.6MIR7855, SPTB
23articulation disorder10.6RHD, SLC4A1
24wernicke encephalopathy10.5SLC4A1, UGT1A1
25larynx sarcoma10.4PKLR, UGT1A1
26wolff mental retardation syndrome10.3CD47, GYPB, RHD
27hemolytic anemia10.2
28transient neonatal neutropenia10.1GYPA, SLC4A1
29hemochromatosis10.1
30hereditary elliptocytosis10.1
31splenic infarction10.1
32conjunctival vascular disease10.1GYPA, RHD
33thalassemia10.1
34gilbert syndrome10.1
35renal artery disease10.1PKLR, UGT1A1
36restless legs syndrome10.0GYPA, GYPB
37pupil disease10.0ANK1, EPB41, MIR7855, SLC4A1, SPTA1, SPTB
38autonomic peripheral neuropathy10.0GYPA, RHD
39cholelithiasis10.0
40pancytopenia10.0
41mediastinitis10.0
42sarcoma10.0
43renal tubular acidosis9.9
44splenic sequestration9.9
45angioid streaks9.9
46protein c deficiency9.9
47encephalopathy9.9
48moyamoya disease9.8
49coarctation of aorta9.8
50neonatal jaundice9.8

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

About this section

UMLS symptoms related to Hereditary Spherocytosis:


yellow complexion, hepatocellular jaundice

Drugs & Therapeutics for Hereditary Spherocytosis

About this section

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Antioxidants2928
2PapayaNutraceutical16

Interventional clinical trials:

idNameStatusNCT IDPhase
1GDF 15 in Sickle Cell Disease and Hereditary SpherocytosisUnknown statusNCT01201135
2Hemolysis in Patients With Hereditary Spherocytosis (HS)Unknown statusNCT01201174
3Splenic Function After Spleen-Preserving Distal Pancreatectomy With Excision of Splenic Artery and VeinUnknown statusNCT00778362
4Single Incision Versus Standard Laparoscopic SplenectomyActive, not recruitingNCT01276561
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

About this section

Genetic tests related to Hereditary Spherocytosis:

id Genetic test Affiliating Genes
1 Hereditary Spherocytosis26

Anatomical Context for Hereditary Spherocytosis

About this section

MalaCards organs/tissues related to Hereditary Spherocytosis:

35
Spleen, Testes, Skin, Eye, Heart, Spinal cord, Bone

Animal Models for Hereditary Spherocytosis or affiliated genes

About this section

MGI Mouse Phenotypes related to Hereditary Spherocytosis:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.9ADD2, ANK1, EPB41, HFE, SPTA1, SPTB
2MP:00053679.0ADD2, ANK1, BLOC1S6, EPB41, SLC4A1, SPTA1
3MP:00053878.1ADD2, ANK1, ANXA7, BLOC1S6, CD47, EPB41
4MP:00053768.0ADD2, ANK1, ANXA7, BLOC1S6, CD47, EPB41
5MP:00053977.7ADD2, ANK1, ANXA7, BLOC1S6, CD47, DMTN

Publications for Hereditary Spherocytosis

About this section

Articles related to Hereditary Spherocytosis:

(show top 50)    (show all 585)
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
A genetic features and gene interaction study for identifying the genes that cause hereditary spherocytosis. (27696975)
2016
5
Disease-modifying influences of coexistent G6PD-deficiency, Gilbert syndrome and deletional alpha thalassemia in hereditary spherocytosis: A report of three cases. (27108201)
2016
6
Early postnatal diagnosis of hereditary spherocytosis by combining light microscopy, acidified glycerol lysis test and eosin-5'-maleimide binding assay. (26336967)
2015
7
Towards the harmonization of result presentation for the eosin-5'- maleimide (EMA) binding test in the diagnosis of hereditary spherocytosis. (25178480)
2014
8
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
9
Toward the harmonization of result presentation for the eosin-5'-maleimide binding test in the diagnosis of hereditary spherocytosis. (25227211)
2014
10
Is activity restriction appropriate for patients with hereditary spherocytosis? A population-based analysis. (23307599)
2013
11
Partial versus total splenectomy in children with hereditary spherocytosis. (24074424)
2013
12
Ganglioneuroma in a child with hereditary spherocytosis. (22734309)
2012
13
Anesthetic management of a patient with hereditary spherocytosis for laparoscopic cholecystectomy and splenectomy. (23495352)
2012
14
Protein 4.2 interaction with hereditary spherocytosis mutants of the cytoplasmic domain of human anion exchanger 1. (21039340)
2011
15
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
16
Reliability of EMA binding test in the diagnosis of hereditary spherocytosis in Italian patients. (21150181)
2011
17
Splenectomy for hereditary spherocytosis: complete, partial or not at all? (22077527)
2011
18
Extramedullary haematopoiesis secondary to hereditary spherocytosis. (21517821)
2011
19
Effects of splenectomy for hereditary spherocytosis on glycated haemoglobin in a woman with Type 2 diabetes. (19646203)
2009
20
Laboratory markers of thrombosis risk in children with hereditary spherocytosis. (17854065)
2007
21
Painful sensory neuropathy associated with hereditary spherocytosis. (17265023)
2007
22
Structure of the cytoplasmic domain of erythrocyte band 3 hereditary spherocytosis variant P327R: band 3 Tuscaloosa. (17696498)
2007
23
Hereditary spherocytosis; new guidelines. (15321852)
2004
24
Guidelines for the diagnosis and management of hereditary spherocytosis. (15287938)
2004
25
Follow-up of partial splenectomy in children with hereditary spherocytosis. (12378454)
2002
26
Hereditary spherocytosis in zebrafish riesling illustrates evolution of erythroid beta-spectrin structure, and function in red cell morphogenesis and membrane stability. (11060238)
2000
27
Coinheritance of Gilbert syndrome increases the risk for developing gallstones in patients with hereditary spherocytosis. (10498597)
1999
28
Hereditary spherocytosis due to a novel frameshift mutation in AE1 cytoplasmic COOH terminal tail: band 3 Vesuvio. (10189204)
1999
29
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
30
UGT1 promoter polymorphism accounts for increased neonatal appearance of hereditary spherocytosis. (9446675)
1998
31
Hereditary spherocytosis: from clinical to molecular defects. (9573679)
1998
32
Two distinct truncated variants of ankyrin associated with hereditary spherocytosis. (9590147)
1998
33
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
34
Juvenile polyposis coli and associated anomalies. Review of the literature and report of a case associated with hereditary spherocytosis. (9646204)
1997
35
A nonsense mutation in the erythrocyte band 3 gene associated with decreased mRNA accumulation in a kindred with dominant hereditary spherocytosis. (8567957)
1996
36
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
37
Acute lymphoblastic leukaemia in a child with hereditary spherocytosis. (8582429)
1995
38
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
39
A novel mutation in the erythrocyte protein 4.2 gene of Japanese patients with hereditary spherocytosis (protein 4.2 Fukuoka). (7819064)
1994
40
Red cell membrane protein abnormalities in hereditary spherocytosis in Brazil. (7803273)
1994
41
Combined ankyrin and spectrin deficiency in hereditary spherocytosis. (8347735)
1993
42
Diagnosis of hereditary spherocytosis with dual-angle differential light scattering. (8356943)
1993
43
Open heart operation in patients suffering from hereditary spherocytosis. (8512401)
1993
44
Initial assessment of the beneficial effect of partial splenectomy in hereditary spherocytosis. (8471763)
1993
45
Changes in proteolytic susceptibility of erythrocyte membrane proteins in hereditary spherocytosis. (1889126)
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

About this section

Expression for genes affiliated with Hereditary Spherocytosis

About this section
Search GEO for disease gene expression data for Hereditary Spherocytosis.

Pathways for genes affiliated with Hereditary Spherocytosis

About this section

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
39.8ADD2, DMTN
49.7GYPA, GYPB, GYPC

GO Terms for genes affiliated with Hereditary Spherocytosis

About this section

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:003123510.5MIR7855, SPTA1, SPTB
2spectrinGO:000809110.4EPB41, MIR7855, SPTA1, SPTB
3actin cytoskeletonGO:001562910.0DMTN, MIR7855, SPTA1, SPTB
4cortical cytoskeletonGO:00308639.7DMTN, EPB41, EPB42, GYPC, SLC4A1, SPTA1
5spectrin-associated cytoskeletonGO:00147319.6ANK1, DMTN, EPB41, MIR7855, SPTA1, SPTB
6integral component of plasma membraneGO:00058878.9CD47, GYPB, GYPC, HFE, RHD, SLC4A1
7cytosolGO:00058298.0ADD2, ANK1, ANXA7, BLOC1S6, DMTN, MIR7855
8membraneGO:00160207.9ADD2, ANXA7, DMTN, EPB41, EPB42, GYPA
9plasma membraneGO:00058867.3ADD2, ANK1, ANXA7, CD47, DMTN, EPB41

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1iron ion homeostasisGO:005507210.7EPB42, HFE
2ER to Golgi vesicle-mediated transportGO:000688810.0ANK1, MIR7855, SPTA1, SPTB
3response to organic cyclic compoundGO:001407010.0ANXA7, PKLR, UGT1A1
4positive regulation of protein bindingGO:00320929.9ADD2, EPB41, HFE, SPTA1
5protein complex assemblyGO:00064619.8ADD2, DMTN, HFE
6actin filament bundle assemblyGO:00510179.8ADD2, DMTN
7actin filament cappingGO:00516939.7DMTN, MIR7855, SPTA1, SPTB
8regulation of cell shapeGO:00083609.6ANXA7, DMTN, EPB42, SPTA1
9cytoskeleton organizationGO:00070109.3ANK1, DMTN, EPB42, SPTB
10actin cytoskeleton organizationGO:00300369.3ADD2, DMTN, EPB41, SPTA1

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

idNameGO IDScoreTop Affiliating Genes
1ankyrin bindingGO:003050610.3MIR7855, SLC4A1, SPTB
2Ras guanyl-nucleotide exchange factor activityGO:000508810.0MIR7855, SPTA1, SPTB
3actin filament bindingGO:00510159.5ADD2, BLOC1S6, MIR7855, SPTA1, SPTB
4spectrin bindingGO:00305079.5ADD2, ANK1, DMTN, EPB41
5structural constituent of cytoskeletonGO:00052009.3ANK1, EPB41, EPB42, MIR7855, SPTA1, SPTB
6actin bindingGO:00037798.6ADD2, DMTN, EPB41, MIR7855, SLC4A1, SPTB

Sources for Hereditary Spherocytosis

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet