HS
MCID: HRD011
MIFTS: 66

Hereditary Spherocytosis (HS) malady

Immune diseases, Blood diseases categories

Summaries for Hereditary Spherocytosis

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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 hereditary elliptocytosis and hemolytic anemia. An important gene associated with Hereditary Spherocytosis is ANK1 (ankyrin 1, erythrocytic), and among its related pathways is Interaction between L1 and Ankyrins. The compounds naoh and glucose have been mentioned in the context of this disorder. Affiliated tissues include spleen, skin and testes, and related mouse phenotypes are renal/urinary system and liver/biliary system.

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 a genetically-transmitted... more...

Description from OMIM:46 182900

Aliases & Classifications for Hereditary Spherocytosis

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8Disease Ontology, 42NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 60UMLS, 56SNOMED-CT, 34MeSH, 27ICD9CM, 25ICD10
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Classifications:

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


Aliases & Descriptions:

hereditary spherocytosis 8 42 22 21 10 60
congenital spherocytic hemolytic anemia 8 42 21
congenital spherocytosis 42 21
spherocytosis, type 1 21 46
spherocytic anemia 42 21
minkowski chauffard syndrome 8
spherocytosis hereditary 44
anemia spherocytic 8
hartnup disease 60
h disease 44
hs 21


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Disease Ontology8 DOID:12971
MeSH34 D013103
SNOMED-CT56 55995005, 154795009
ICD9CM27 282.0
ICD1025 D58.0

Related Diseases for Hereditary Spherocytosis

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17GeneCards, 18GeneDecks
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Diseases in the Hereditary Spherocytosis family:

Epb42-Related Hereditary Spherocytosis Spherocytosis, Hereditary, Type 5

Diseases related to Hereditary Spherocytosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 161)
idRelated DiseaseScoreTop Affiliating Genes
1hereditary elliptocytosis30.8G6PD, RHD, SLC4A1, SPTB, SPTA1
2hemolytic anemia30.7G6PD, TFRC, UGT1A1, RHD, PKLR, SPTB
3hemochromatosis30.6TFRC, HFE, HP
4gilbert syndrome30.5UGT1A1, G6PD
5cholelithiasis30.4UGT1A1
6neonatal jaundice30.4RHD, UGT1A1, G6PD
7deficiency anemia30.3SPTA1, G6PD, TFRC, RHD, PKLR, HFE
8iron deficiency anemia30.2G6PD, TFRC, HFE
9congenital hemolytic anemia30.2G6PD, PKLR, HP, SPTB
10sickle cell anemia30.0SPTB
11kernicterus30.0G6PD, UGT1A1, RHD
12beta thalassemia30.0TFRC, HFE
13hemoglobinuria30.0HP, G6PD
14alpha thalassemia30.0G6PD, UGT1A1, HFE, HBG1
15megaloblastic anemia30.0HP, TFRC
16sickle cell disease30.0G6PD, TFRC, UGT1A1, RHD, HBG1, HP
17hepatitis30.0TFRC, UGT1A1, HFE, HP
18diabetes mellitus30.0G6PD, RHD, PKLR, HFE, HP
19hemoglobinopathy29.7HP, HBG1, HFE, TFRC, G6PD
20leukemia29.7TFRC, RHD, HFE, CD47, HP, SRI
21hartnup disease11.0
22trichomegaly, cataract, and hereditary spherocytosis10.5
23intestinal disease10.5
24splenic infarction10.4
25thalassemia10.4
26hemoglobin h disease, nondeletional10.4
27hidradenitis suppurativa10.3
28sarcoma10.3
29pancytopenia10.3
30splenic sequestration10.3
31hypertension10.3
32mediastinitis10.3
33moyamoya disease10.3
34angioid streaks10.3
35renal tubular acidosis10.3
36protein c deficiency10.3
37spherocytosis, hereditary, type 510.3
38cystinuria10.2
39cerebritis10.2
40neuropathy10.2
41pulmonary embolism10.2
42epb42-related hereditary spherocytosis10.2
43temporal lobe epilepsy10.1
44dowling-degos disease10.1
45dyschromatosis symmetrica hereditaria 110.1
46dowling-degos disease 110.1
47dowling-degos disease 210.1
48hemosiderosis10.1
49arteriovenous fistula10.1
50acrodermatitis10.1

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



Diseases related to hereditary spherocytosis

Clinical Features for Hereditary Spherocytosis

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46OMIM
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Clinical features from OMIM:

182900

Clinical synopsis from OMIM:

182900

Drugs & Therapeutics for Hereditary Spherocytosis

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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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22GTR
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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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32MalaCards
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MalaCards organs/tissues related to Hereditary Spherocytosis:

32
Spleen, Skin, Testes, Eye, Heart, Bone, Bone marrow, Spinal cord, Lung

Animal Models for Hereditary Spherocytosis or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Hereditary Spherocytosis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053679.2SPTA1, SPTB, SLC4A1, HP, BLOC1S6, ANK1
2MP:00053708.9TFRC, HFE, ANK1, HP, SPTB, SPTA1
3MP:00036318.7TFRC, ANXA7, ANK1, BLOC1S6, SPTB, SPTA1
4MP:00053788.3ANXA7, HFE, TFRC, G6PD, ANK1, BLOC1S6
5MP:00053858.0G6PD, TFRC, ANXA7, ANK1, BLOC1S6, CD47
6MP:00053847.9ANXA7, PRDX2, TFRC, G6PD, BLOC1S6, CD47
7MP:00107687.5G6PD, TFRC, PKLR, HFE, ANXA7, ANK1
8MP:00053877.3ANK1, ANXA7, HFE, PKLR, PRDX2, TFRC
9MP:00053976.9SPTA1, G6PD, TFRC, RHD, PRDX2, PKLR
10MP:00053766.9ANXA7, HFE, PKLR, PRDX2, RHD, TFRC

Publications for Hereditary Spherocytosis

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50PubMed
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Articles related to Hereditary Spherocytosis:

(show top 50)    (show all 515)
idTitleAuthorsYear
1
Partial versus total splenectomy in children with hereditary spherocytosis. (24074424)
2013
2
Extramedullary hematopoiesis at the posterior mediastinum in patient with hereditary spherocytosis: a case report. (23614106)
2013
3
Flow cytometric osmotic fragility testing does reflect the clinical severity of hereditary spherocytosis. (24243866)
2013
4
A case of KienbAPck's disease and hereditary spherocytosis anaemia. (22403436)
2012
5
Screening for hereditary spherocytosis in routine practice: evaluation of a diagnostic algorithm with focus on non-splenectomised patients. (21523379)
2012
6
A novel ENU-generated truncation mutation lacking the spectrin-binding and C-terminal regulatory domains of Ank1 models severe hemolytic hereditary spherocytosis. (21193012)
2011
7
Massive pulmonary embolism and acute limb ischaemia in a patient of hereditary spherocytosis and patent foramen ovale. (20619736)
2010
8
Eryptosis in hereditary spherocytosis and thalassemia: role of glycoconjugates. (19757027)
2010
9
Hereditary spherocytosis and hereditary elliptocytosis: aberrant protein sorting during erythroblast enucleation. (20339087)
2010
10
Splenectomy in hereditary spherocytosis: Review of 1,657 patients and application of the pediatric quality indicators. (19214973)
2009
11
Partial splenectomy for hereditary spherocytosis. (18381098)
2008
12
Laboratory markers of thrombosis risk in children with hereditary spherocytosis. (17854065)
2007
13
Immunogenicity of sequential pneumococcal vaccination in subjects splenectomised for hereditary spherocytosis. (16487181)
2006
14
Peripartum pulmonary embolism in a patient with concomitant hemoglobin Newcastle, hemoglobin Constant Spring, and hereditary spherocytosis. (16184591)
2005
15
Erythropoietin levels in the different clinical forms of hereditary spherocytosis. (16281946)
2005
16
Near-total splenectomy: a new technique for the management of hereditary spherocytosis. (15621989)
2005
17
Hereditary spherocytosis. (15121908)
2004
18
Hereditary spherocytosis in association with severe G6PD deficiency: report of an unusual case. (15149895)
2004
19
High incidence of early cholelithiasis detected by ultrasonography in children and young adults with hereditary spherocytosis. (14663278)
2003
20
Interaction of sickle cell trait with hereditary spherocytosis: splenic infarcts and sequestration. (12486324)
2003
21
Open heart operation in a patient with hereditary spherocytosis: a case report. (11888479)
2001
22
A recurrent frameshift mutation of the ankyrin gene associated with severe hereditary spherocytosis. (11167760)
2000
23
Arginine 490 is a hot spot for mutation in the band 3 gene in hereditary spherocytosis. (10580570)
1999
24
UGT1 promoter polymorphism accounts for increased neonatal appearance of hereditary spherocytosis. (9446675)
1998
25
Hereditary spherocytosis, thrombocytosis, and chronic pulmonary emboli: a case report and review of the literature. (9423823)
1998
26
High frequency of de novo mutations in ankyrin gene (ANK1) in children with hereditary spherocytosis. (9470011)
1998
27
Modulation of clinical expression and band 3 deficiency in hereditary spherocytosis. (9207478)
1997
28
Usefulness of cryohemolysis test in the diagnosis of hereditary spherocytosis. (9204617)
1997
29
Ankyrin-1 mutations are a major cause of dominant and recessive hereditary spherocytosis. (8640229)
1996
30
Comparison of the ankyrin (AC)n microsatellites in genomic DNA and mRNA reveals absence of one ankyrin mRNA allele in 20% of patients with hereditary spherocytosis. (7756660)
1995
31
Partial splenic embolization in a child with hereditary spherocytosis. (7671955)
1995
32
Diagnosis of hereditary spherocytosis with dual-angle differential light scattering. (8356943)
1993
33
Hereditary spherocytosis characterized by increased spectrin/band 3 ratio. (1536803)
1992
34
Oxidative erythrocyte membrane damage in hereditary spherocytosis. (1558539)
1992
35
Changes in proteolytic susceptibility of erythrocyte membrane proteins in hereditary spherocytosis. (1889126)
1991
36
Coexistence of hereditary spherocytosis and beta-thalassemia: case report of severe hemolytic anemia in an American black. (1948000)
1991
37
Recurrent acute splenic sequestration crisis due to interacting genetic defects: hemoglobin SC disease and hereditary spherocytosis. (2294990)
1990
38
Relative iron deficiency in hereditary spherocytosis. (2735320)
1989
39
Flow cytometric measurement (H-1 Technicon) of microcytic and hyperchromic red cell populations in pediatric patients affected by hereditary spherocytosis (HS). (2628236)
1989
40
A new modification of the 'pink test' for the diagnosis of hereditary spherocytosis. (2511725)
1989
41
Hereditary spherocytosis: a clinical experience. (3237424)
1988
42
Glucuronyl transferase deficiency and mild hereditary spherocytosis: effect of splenectomy. (3141191)
1988
43
Mediastinal extramedullary erythropoiesis in hereditary spherocytosis. (3652644)
1987
44
Diminished extractable spectrin in the erythrocytes of a patient with 'sporadic' hereditary spherocytosis. (3101352)
1986
45
Aplastic crisis and erythema infectiosum (fifth disease) revealing a hereditary spherocytosis in a familial human parvovirus infection. (3012459)
1986
46
Angioid streaks associated with hereditary spherocytosis. (6496630)
1984
47
Parvovirus infection in a family associated with aplastic crisis in an affected sibling pair with hereditary spherocytosis. (6092438)
1984
48
Combination of hereditary elliptocytosis and hereditary spherocytosis. (4426130)
1974
49
Concomitant abnormalities in red cell membrane lipoprotein conformation and rheology in hereditary spherocytosis and acanthocytosis. (5143786)
1971
50
Alterations in osmotic and mechanical fragility related to in vivo erythrocyte aging and splenic sequestration in hereditary spherocytosis. (13829323)
1960

Genetic Variations for Hereditary Spherocytosis

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Hereditary Spherocytosis:

62
id Symbol AA change Variation ID SNP ID
1ANK1p.Val463IleVAR_000596
2ANK1p.Leu276ArgVAR_054991
3ANK1p.Ile1054ThrVAR_054992

Expression for genes affiliated with Hereditary Spherocytosis

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1BioGPS, 15Gene 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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53Reactome
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Pathways related to Hereditary Spherocytosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9SPTA1, SPTB, ANK1

Compounds for genes affiliated with Hereditary Spherocytosis

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44Novoseek, 49PharmGKB, 11DrugBank, 24HMDB, 2BitterDB, 28IUPHAR, 59Tocris Bioscience
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Compounds related to Hereditary Spherocytosis according to GeneCards/GeneDecks:

(show all 36)
idCompoundScoreTop Affiliating Genes
1naoh4410.5SLC4A1, RHD
2glucose4410.3SPTB, SLC4A1, RHD
3artesunate44 4911.2TFRC, G6PD
4aclacinomycin4410.2HBG1, TFRC
5thiobarbituric acid4410.2HP, G6PD
623-diphosphoglycerate4410.2HP, G6PD
7mefloquine44 1111.2RHD, G6PD
8oxalate4410.2RHD, SLC4A1
95-aminolevulinic acid44 2411.0HBG1, HFE, TFRC
10zinc protoporphyrin4410.0G6PD, TFRC, HP
11uric acid44 2410.9G6PD, HFE, HP
12glucose 6-phosphate44 2410.9HP, UGT1A1, G6PD
13vitamin b12449.9G6PD, TFRC, HP
14hydroxyurea44 49 1111.9HBG1, UGT1A1, TFRC
15chloroquine44 2 49 28 1113.9G6PD, TFRC, HP
16polyethylene glycol449.8HP, TFRC, G6PD
17citrate449.8G6PD, TFRC, HP, SLC4A1
18folate449.8G6PD, TFRC, HP, SLC4A1
19benzidine449.8TFRC, UGT1A1, HBG1, HP
20ascorbic acid44 2410.7G6PD, TFRC, HFE, HP
21porphobilinogen44 11 2411.6HBG1, TFRC
22phospholipid449.6SLC4A1, HP, ANXA7, RHD
23iron44 2410.5TFRC, RHD, HFE, HBG1, HP
24aspartate449.3G6PD, TFRC, UGT1A1, RHD, HFE, HP
25phosphatidylserine44 28 1111.3G6PD, RHD, ANXA7, ANK1, CD47, SPTB
26h2o2449.3G6PD, TFRC, RHD, PRDX2, HP
27testosterone44 59 11 2412.3G6PD, TFRC, UGT1A1, HFE, HP
28doxorubicin44 49 1111.3G6PD, TFRC, HBG1, SRI
29atp44 2810.3SLC4A1, HP, PKLR, PRDX2, RHD, G6PD
30cholesterol44 28 11 2412.1SLC4A1, HP, CD47, HFE, UGT1A1
31oxygen44 2410.1G6PD, RHD, PRDX2, CD47, HBG1, SPTB
32dexamethasone44 49 28 1112.0HP, HBG1, PRDX2, UGT1A1, TFRC
33glyceraldehyde 3-phosphate448.9SPTB, G6PD, TFRC, RHD, PRDX2, PKLR
34lipid448.7G6PD, RHD, HFE, ANXA7, ANK1, HP
35tyrosine448.6TFRC, UGT1A1, RHD, PKLR, HFE, ANK1
36serine448.6G6PD, TFRC, RHD, PRDX2, PKLR, CD47

GO Terms for genes affiliated with Hereditary Spherocytosis

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16Gene Ontology
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Cellular components related to Hereditary Spherocytosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cortical cytoskeletonGO:03086310.1ANK1, EPB42, SLC4A1
2spectrin-associated cytoskeletonGO:01473110.1SPTA1, SPTB, ANK1
3spectrinGO:00809110.0SPTB, SPTA1
4chromaffin granule membraneGO:0425849.9SRI, ANXA7
5intrinsic to internal side of plasma membraneGO:0312359.8SPTA1, SPTB
6integral to plasma membraneGO:0058878.9SLC4A1, CD47, HFE, RHD, UGT1A1, TFRC
7cytosolGO:0058298.0G6PD, PRDX2, PKLR, ANXA7, ANK1, BLOC1S6

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1plasma membrane organizationGO:00700910.1SPTA1, SPTB
2porphyrin-containing compound biosynthetic processGO:00677910.1SPTA1, SPTB, ANK1
3erythrocyte maturationGO:04324910.0G6PD, EPB42
4cellular response to oxidative stressGO:0345999.9PRDX2, G6PD
5actin filament cappingGO:0516939.8SPTA1, SPTB
6cellular iron ion homeostasisGO:0068799.7HP, HFE, TFRC
7regulation of cell shapeGO:0083609.6SPTA1, EPB42, ANXA7

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

idNameGO IDScoreTop Affiliating Genes
1ankyrin bindingGO:03050610.1SPTB, SLC4A1
2structural constituent of cytoskeletonGO:0052009.8SPTA1, SPTB, EPB42, ANK1
3actin filament bindingGO:0510159.8SPTB, SPTA1, BLOC1S6
4antioxidant activityGO:0162099.5PRDX2, HP
5protein bindingGO:0055157.2ANK1, ANXA7, HFE, TFRC, G6PD, 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
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet