HS
MCID: HRD011
MIFTS: 54

Hereditary Spherocytosis (HS) malady

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

Aliases & Classifications for Hereditary Spherocytosis

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Sources:
11Disease Ontology, 13DISEASES, 25Genetics Home Reference, 27GTR, 30ICD10, 31ICD10 via Orphanet, 32ICD9CM, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 50Novoseek, 54Orphanet, 62SNOMED-CT, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Hereditary Spherocytosis:

Name: Hereditary Spherocytosis 11 48 25 54 27 13 68
Congenital Spherocytic Hemolytic Anemia 11 48 25
Spherocytic Anemia 11 48 25
Congenital Spherocytosis 48 25
Spherocytosis, Type 1 25 68
Anemia, Hereditary Spherocytic Hemolytic 68
 
Minkowski Chauffard Syndrome 11
Minkowski-Chauffard Disease 54
Spherocytosis, Hereditary 39
Spherocytosis Hereditary 50
Hs 25

Characteristics:

Orphanet epidemiological data:

54
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
ICD1030 D58.0
ICD9CM32 282.0
MeSH39 D013103
NCIt45 C97074
SNOMED-CT62 154795009, 55995005
Orphanet54 ORPHA822
MESH via Orphanet40 C536356, D013103
UMLS via Orphanet69 C0221409, C0037889
ICD10 via Orphanet31 D58.0

Summaries for Hereditary Spherocytosis

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NIH Rare Diseases:48 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 spherocytosis, type 3 and pyropoikilocytosis, and has symptoms including icterus 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 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: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.

Wikipedia:71 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
Hereditary Spherocytosis Type 2 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 127)
idRelated DiseaseScoreTop Affiliating Genes
1spherocytosis, type 332.8SPTA1, SPTB
2pyropoikilocytosis30.2EPB41, SPTA1
3kernicterus29.9ANK1, EPB41, GYPC, SLC4A1, SPTA1, SPTB
4epb42-related hereditary spherocytosis12.0
5hereditary spherocytosis type 211.9
6spherocytosis, type 111.7
7spherocytosis, hereditary, type 511.6
8spherocytosis, type 411.6
9hidradenitis suppurativa11.5
10sptb-related spherocytosis11.5
11dyschromatosis symmetrica hereditaria11.0
12dowling-degos disease 111.0
13reticulate acropigmentation of kitamura11.0
14dowling-degos disease 211.0
15trichomegaly10.9
16epidermolysis bullosa dystrophica, ar10.8
17recessive dystrophic epidermolysis bullosa10.8
18recessive dystrophic epidermolysis bullosa-generalized other10.8
19hinman syndrome10.8
20corneal dystrophy, subepithelial mucinous10.4EPB41, SLC4A1
21mental retardation, buenos aires type10.3CD47, GYPB, RHD
22adenosine triphosphate, elevated, of erythrocytes10.3HFE, PKLR, SLC4A1
23erf-related craniosynostosis10.3EPB41, SPTB
24meningeal melanocytoma10.3ANK1, HBG1, PKLR, SPTB
25mutism10.3RHD, SLC4A1
26thalassemia-beta, dominant inclusion-body10.3HBG1, HFE, RHD, UGT1A1
27larynx sarcoma10.3HBG1, HFE, UGT1A1
28hepatitis b10.3ANK1, EPB42, PKLR, SLC4A1, SPTA1, SPTB
29hemolytic anemia10.1
30immunodeficiency due to defect in mapbp-interacting protein10.1DMTN, GYPA, GYPB, GYPC, RHD, SLC4A1
31tracheal cancer10.1HBG1, HFE, UGT1A1
32hemochromatosis10.1
33hereditary elliptocytosis10.1
34splenic infarction10.1
35gilbert syndrome10.1
36thalassemia10.1
37thrombosis10.1
38sarcoma10.0
39cholelithiasis10.0
40pancytopenia10.0
41mediastinitis10.0
42pyruvate kinase deficiency9.9
43renal tubular acidosis9.9
44splenic sequestration9.9
45angioid streaks9.9
46protein c deficiency9.9
47encephalopathy9.9
48pre-eclampsia9.8
49eclampsia9.8
50hidradenitis9.8

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 & Phenotypes for Hereditary Spherocytosis

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UMLS symptoms related to Hereditary Spherocytosis:


icterus

MGI Mouse Phenotypes related to Hereditary Spherocytosis according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537010.4ADD2, ANK1, ANXA7, EPB41, HFE, SPTA1
2MP:00053879.8ADD2, ANK1, ANXA7, BLOC1S6, CD47, EPB41
3MP:00053769.8ADD2, ANK1, ANXA7, BLOC1S6, CD47, EPB41
4MP:00053679.8ADD2, ANK1, BLOC1S6, EPB41, SLC4A1, SPTA1
5MP:00053979.7ADD2, ANK1, ANXA7, BLOC1S6, CD47, DMTN

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
1Antioxidants3050
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
4The Dallas Hereditary Spherocytosis Cohort StudyTerminatedNCT01141621
5Single Incision Versus Standard Laparoscopic SplenectomyWithdrawnNCT01276561
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 Spherocytosis27

Anatomical Context for Hereditary Spherocytosis

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MalaCards organs/tissues related to Hereditary Spherocytosis:

36
Spleen, Skin, Testes, Eye, Heart, Spinal cord, Bone

Publications for Hereditary Spherocytosis

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Articles related to Hereditary Spherocytosis:

(show top 50)    (show all 594)
idTitleAuthorsYear
1
A new frameshift mutation of the I^-spectrin gene associated with hereditary spherocytosis. (27709257)
2017
2
A long-term follow-up study of subtotal splenectomy in children with hereditary spherocytosis. (28417547)
2017
3
Growth Failure in Hereditary Spherocytosis and the Effect of Splenectomy. (28368266)
2017
4
Hereditary Spherocytosis - Diagnosis, Surgical Treatment and Outcomes. A Literature Review. (28463670)
2017
5
Moyamoya Syndrome Associated With Hereditary Spherocytosis: An Emerging Clinical Entity. (28221268)
2017
6
Recombinant erythropoietin vs. blood transfusion care in infants with hereditary spherocytosis: a retrospective cohort study of A.I.E.O.P. patients (Associazione Italiana Emato-Oncologia Pediatrica). (28263406)
2017
7
Gilbert Syndrome with Concomitant Hereditary Spherocytosis Presenting with Moderate Unconjugated Hyperbilirubinemia. (28321066)
2017
8
A de novo ankyrin mutation (ANK1 Q109X) causing severe hereditary spherocytosis from preterm neonatal period. (28280995)
2017
9
Usefulness of the EMA flow cytometric test in the diagnosis of hereditary spherocytosis post-transfusion. (28466540)
2017
10
Aplastic Crisis Secondary to Parvovirus B19 Infection as the First Manifestation of an Undiagnosed Hereditary Spherocytosis: Report of a Pediatric Series of Spanish Patients. (26583618)
2016
11
Spleen histology in children with sickle cell disease and hereditary spherocytosis: Hints on the disease pathophysiology. (27771375)
2016
12
A case report of hereditary spherocytosis with concomitant chronic myelocytic leukemia. (28352784)
2016
13
Understanding splenectomy for children with hereditary spherocytosis. (27394058)
2016
14
Spinal Cord Infarction in a Patient with Hereditary Spherocytosis: A Case Report and Discussion. (27051541)
2016
15
Giant right ventricular outflow tract thrombus in hereditary spherocytosis: a case report. (27118929)
2016
16
Evaluation of a Flow-Cytometric Osmotic Fragility Test for Hereditary Spherocytosis in Chinese Patients. (26505491)
2016
17
Topological Structures and Membrane Nanostructures of Erythrocytes after Splenectomy in Hereditary Spherocytosis Patients via Atomic Force Microscopy. (27557951)
2016
18
Advances in laboratory diagnosis of hereditary spherocytosis. (27837594)
2016
19
Total versus partial splenectomy in pediatric hereditary spherocytosis: A systematic review and meta-analysis. (27300151)
2016
20
Next-generation osmotic gradient ektacytometry for the diagnosis of hereditary spherocytosis: interlaboratory method validation and experience. (27559691)
2016
21
Mutational characteristics of ANK1 and SPTB genes in hereditary spherocytosis. (26830532)
2016
22
Pulmonary arterial hypertension associated with hereditary spherocytosis and splenectomy in a patient with a mutation in the BMPR2 gene. (27525076)
2016
23
Disease-modifying influences of coexistent G6PD-deficiency, Gilbert syndrome and deletional alpha thalassemia in hereditary spherocytosis: A report of three cases. (27108201)
2016
24
Red blood cell aquaporin-1 expression is decreased in hereditary spherocytosis. (27465156)
2016
25
A genetic features and gene interaction study for identifying the genes that cause hereditary spherocytosis. (27696975)
2016
26
Paravertebral pseudotumor in patient with hereditary spherocytosis. (27536548)
2016
27
Previously undiagnosed hereditary spherocytosis in a patient with jaundice and pyelonephritis: a case report. (27906107)
2016
28
A comparative evaluation of Eosin-5'-maleimide flow cytometry reveals a high diagnostic efficacy for hereditary spherocytosis. (27339613)
2016
29
CD44 as a potential screening marker for preliminary differentiation between congenital dyserythropoietic anemia type II and hereditary spherocytosis. (27784127)
2016
30
Pyoderma Gangrenosum in a Patient With Hereditary Spherocytosis. (26711368)
2016
31
Long-term follow-up of subtotal splenectomy for hereditary spherocytosis: a single-center study. (26773041)
2016
32
Open-heart surgery using a centrifugal pump: a case of hereditary spherocytosis. (27566068)
2016
33
Mean reticulocyte volume: a specific parameter to screen for hereditary spherocytosis. (25868528)
2015
34
Paraspinal extramedullary hematopoiesis in hereditary spherocytosis with a concurrent follicular lymphoma: case report and review of the literature. (26369323)
2015
35
Complex Congenital Cardiac Surgery in an Adult Patient With Hereditary Spherocytosis: Avoidance of Massive Hemolysis Associated With Extracorporeal Circulation in the Presence of Red Blood Cell Fragility. (27021177)
2015
36
An adolescent with hereditary spherocytosis who presented with splenic infarction. (26139647)
2015
37
Malignant systemic hypertension, encephalopathy and bradycardia following splenectomy for hereditary spherocytosis. (26009599)
2015
38
Occurrence of Wilms' tumor in a child with hereditary spherocytosis. (26690609)
2015
39
Percentage of hyperdense cells: Automated parameter to hereditary spherocytosis screening. (26210847)
2015
40
CENTRAL RETINAL VEIN OCCLUSION IN HEREDITARY SPHEROCYTOSIS. (26579593)
2015
41
Eryptosis is induced by hyperthermia in hereditary spherocytosis red blood cells. (26509780)
2015
42
Hereditary Spherocytosis Unmasked by Human Parvovirus B19 Induced Aplastic Crisis in a Family. (26379354)
2015
43
A Diagnostic Pitfall: Salmonella Splenic Infarction in Hereditary Spherocytosis. (26272774)
2015
44
Klebsiella brain abscess in an infant with hereditary spherocytosis. (25691204)
2015
45
Comparison and evaluation of three screening tests of hereditary spherocytosis in Chinese patients. (25501660)
2015
46
A pediatrician's practical guide to diagnosing and treating hereditary spherocytosis in neonates. (26009624)
2015
47
Hereditary Spherocytosis in a Middle-aged Man Complicated with Common Bile Duct Stones. (26073240)
2015
48
Laparoscopic splenectomy for hereditary spherocytosis-preliminary report. (26268883)
2015
49
Identification of a novel p.Q1772X ANK1 mutation in a Korean family with hereditary spherocytosis. (26107955)
2015
50
Hereditary spherocytosis: evaluation of 68 children. (25548458)
2015

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
110.2ANK1, SPTA1, SPTB
2
Show member pathways
10.2ANK1, SPTA1, SPTB
310.2ADD2, DMTN
410.1GYPA, GYPB, GYPC
5
Show member pathways
10.0CD47, GYPA, GYPB, GYPC

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:003123511.1SPTA1, SPTB
2cell cortexGO:000593811.0EPB41, SPTA1, SPTB
3cortical cytoskeletonGO:003086310.7DMTN, EPB41, EPB42, GYPC, SLC4A1, SPTA1
4cytoskeletonGO:000585610.6ADD2, ANK1, DMTN, EPB41, EPB42, SPTA1
5spectrinGO:000809110.5SPTA1, SPTB
6integral component of plasma membraneGO:000588710.5CD47, GYPA, GYPB, GYPC, HFE, RHD
7spectrin-associated cytoskeletonGO:001473110.0ANK1, DMTN, EPB41, SPTA1, SPTB
8membraneGO:00160209.5ADD2, ANK1, ANXA7, BLOC1S6, CD47, DMTN
9plasma membraneGO:00058869.4ADD2, ANK1, ANXA7, CD47, DMTN, EPB41

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1actin filament cappingGO:005169310.8DMTN, SPTA1, SPTB
2cytoskeleton organizationGO:000701010.7ANK1, DMTN, EPB42, SPTB
3actin cytoskeleton organizationGO:003003610.7ADD2, DMTN, EPB41, SPTA1
4positive regulation of protein bindingGO:003209210.6ADD2, EPB41, HFE, SPTA1
5protein complex assemblyGO:000646110.5ADD2, DMTN, EPB41, HFE
6leukocyte migrationGO:005090010.5ADD2, CD47, GYPA, GYPB, GYPC
7regulation of cell shapeGO:00083609.9ANXA7, DMTN, EPB41, EPB42, SPTA1

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

idNameGO IDScoreTop Affiliating Genes
1ankyrin bindingGO:003050611.0SLC4A1, SPTB
2actin filament bindingGO:005101510.7ADD2, BLOC1S6, SPTA1, SPTB
3actin bindingGO:000377910.6ADD2, DMTN, EPB41, SPTA1, SPTB
4spectrin bindingGO:003050710.5ADD2, ANK1, DMTN, EPB41
5protein homodimerization activityGO:004280310.4ADD2, BLOC1S6, GYPA, GYPC, SLC4A1, UGT1A1
6structural constituent of cytoskeletonGO:000520010.0ANK1, EPB41, EPB42, SPTA1, SPTB

Sources for Hereditary Spherocytosis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet