HS
MCID: HRD011
MIFTS: 66

Hereditary Spherocytosis (HS) malady

Immune diseases, Blood diseases categories

Summaries for Hereditary Spherocytosis

About this section
Sources:
21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
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

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

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


External Ids:

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

Related Diseases for Hereditary Spherocytosis

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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

About this section
Sources:
46OMIM
See all sources

Clinical features from OMIM:

182900

Clinical synopsis from OMIM:

182900

Drugs & Therapeutics for Hereditary Spherocytosis

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

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

About this section
Sources:
22GTR
See all sources

Genetic tests related to Hereditary Spherocytosis:

id Genetic test Affiliating Genes
1 Hereditary Spherocytosis22

Anatomical Context for Hereditary Spherocytosis

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Hereditary Spherocytosis:

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

Animal Models for Hereditary Spherocytosis or affiliated genes

About this section
Sources:
36MGI
See all sources

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

About this section
Sources:
50PubMed
See all sources

Articles related to Hereditary Spherocytosis:

(show top 50)    (show all 515)
idTitleAuthorsYear
1
Is activity restriction appropriate for patients with hereditary spherocytosis? A population-based analysis. (23307599)
2013
2
Erythrocyte membrane protein defects in hereditary spherocytosis patients in Turkish population. (22889517)
2012
3
Gilbert syndrome increasing unconjugated hyperbilirubinemia in a child with hereditary spherocytosis. (22134611)
2012
4
A de novo band 3 mutation in hereditary spherocytosis. (22170767)
2012
5
Partial splenectomy for hereditary spherocytosis: a multi-institutional review. (21238662)
2011
6
Intractable neonatal jaundice due to hereditary spherocytosis and Gilbert's syndrome. (22689841)
2011
7
A new ankyrin mutation (ANK1 EXON E9X) causing severe hereditary spherocytosis in the neonatal period. (20512576)
2011
8
Mutation in erythroid specific transcription factor KLF1 causes Hereditary Spherocytosis in the Nan hemolytic anemia mouse model. (20691777)
2010
9
Traditional laboratory measures of cardiovascular risk in hereditary spherocytosis. (20589636)
2010
10
Hereditary spherocytosis and elliptocytosis associated with prosthetic heart valve replacement: rheological study of erythrocyte modifications. (19308658)
2009
11
Clinico-hematological profile of hereditary spherocytosis: experience from a tertiary care center in North India. (19490762)
2009
12
Acute encephalopathy with human parvovirus B19 infection in hereditary spherocytosis. (18520445)
2008
13
Flow cytometry as a diagnostic tool for hereditary spherocytosis. (17016037)
2006
14
Molecular and haematological studies of four families with hereditary spherocytosis resulting from band 3 deficiency. (16914912)
2006
15
Near-total splenectomy for hereditary spherocytosis: clinical prospects in relation to disease severity. (16487182)
2006
16
A dinucleotide deletion in the ankyrin promoter alters gene expression, transcription initiation and TFIID complex formation in hereditary spherocytosis. (16037067)
2005
17
Hereditary spherocytosis associated with mutations in HFE gene. (12961032)
2003
18
Sickle cell trait associated with hereditary spherocytosis: a potentially life-threatening coexistence. (14663174)
2003
19
Absence of CD47 in protein 4.2-deficient hereditary spherocytosis in man: an interaction between the Rh complex and the band 3 complex. (12176912)
2002
20
Arterial elastorrhexis in beta-thalassaemia intermedia, sickle cell thalassaemia and hereditary spherocytosis. (11737245)
2001
21
Ankyrin gene mutations in japanese patients with hereditary spherocytosis. (11372755)
2001
22
Low frequency of ankyrin mutations in hereditary spherocytosis: identification of three novel mutations. (11102985)
2000
23
Heavy transfusions and presence of an anti-protein 4.2 antibody in 4. 2(-) hereditary spherocytosis (949delG). (10629586)
2000
24
Recombinant erythropoietin therapy as an alternative to blood transfusions in infants with hereditary spherocytosis. (11920183)
2000
25
Bleeding jejunal varices and portal thrombosis in a splenectomized patient with hereditary spherocytosis. (10711454)
2000
26
Coinheritance of Gilbert syndrome increases the risk for developing gallstones in patients with hereditary spherocytosis. (10498597)
1999
27
Hereditary spherocytosis: implications in bone marrow transplantation. (9489641)
1998
28
Juvenile polyposis coli and associated anomalies. Review of the literature and report of a case associated with hereditary spherocytosis. (9646204)
1997
29
Hereditary spherocytosis: a review of the clinical and molecular aspects of the disease. (8932827)
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
Higher incidence of isolated or combined deficiency of band 3 and/or band 4.2 in hereditary spherocytosis (HS) (7670008)
1995
32
Viral-associated haemophagocytosis and elevated serum TNF-alpha with parvovirus-B19-related pancytopenia in patients with hereditary spherocytosis. (7955926)
1994
33
Open heart operation in patients suffering from hereditary spherocytosis. (8512401)
1993
34
Pregnancy and hereditary spherocytosis. Report of 8 patients and a review. (8328819)
1993
35
Hypertonic cryohemolysis: a diagnostic test for hereditary spherocytosis. (2399901)
1990
36
Demonstration of the deletion of a copy of the ankyrin gene in a patient with hereditary spherocytosis by in situ hybridization. (2151901)
1990
37
Alteration of the erythrocyte membrane skeletal ultrastructure in hereditary spherocytosis, hereditary elliptocytosis, and pyropoikilocytosis. (2364170)
1990
38
Ultracentrifugal analysis of the junction complexes of the red cell membrane cytoskeletal network: application to hereditary spherocytosis and metabolically depleted cells. (2790221)
1989
39
Decreased amount of the Rh antigen D in hereditary spherocytosis (HS). (2514786)
1989
40
Reductions of erythrocyte membrane viscoelastic coefficients reflect spectrin deficiencies in hereditary spherocytosis. (3335631)
1988
41
Hereditary elliptocytosis, spherocytosis and related disorders: consequences of a deficiency or a mutation of membrane skeletal proteins. (3332099)
1987
42
A spin-label study of membrane proteins and internal microviscosity of erythrocytes in hereditary spherocytosis. (2824948)
1987
43
A patient with hereditary spherocytosis and silicosis who developed an IgA(lambda) monoclonal gammopathy. (3573411)
1987
44
Unusual ultrasound appearance of the spleen--a case of hereditary spherocytosis. (3512016)
1986
45
Red cell abnormalities in a kindred with an uncommon form of hereditary spherocytosis. (2996308)
1985
46
Observations on plasma and red cell lipids in hereditary spherocytosis. (6705235)
1984
47
Hereditary spherocytosis associated with a variant of band 3 protein in the erythrocyte membrane. (6492485)
1984
48
Disappearance of microspherocytes in peripheral circulation and normalization of decreased lipids in plasma and in red cells of patients with hereditary spherocytosis after splenectomy. (6465132)
1984
49
A case of hereditary spherocytosis associated with factor V deficiency. (6858567)
1983
50
Intestinal iron absorption under the influence of available storage iron and erythroblastic hyperplasia. Comparative studies in children with hereditary spherocytosis, nonspherocytic enzymopenic hemolytic anemia, acquired hemolytic anemia, vitamin B12 deficiency induced megaloblastic anemia, erythroblastic hypoplasia and aplastic anemia. (1130121)
1975

Genetic Variations for Hereditary Spherocytosis

About this section
Sources:
62UniProtKB/Swiss-Prot
See all sources

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

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
53Reactome
See all sources

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

About this section
Sources:
44Novoseek, 49PharmGKB, 11DrugBank, 24HMDB, 2BitterDB, 28IUPHAR, 59Tocris Bioscience
See all sources

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

About this section
Sources:
16Gene Ontology
See all sources

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:0510159.8BLOC1S6, SPTB, SPTA1
4antioxidant activityGO:0162099.5HP, PRDX2
5protein bindingGO:0055157.2ANK1, ANXA7, HFE, TFRC, G6PD, BLOC1S6

Products for genes affiliated with Hereditary Spherocytosis

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hereditary Spherocytosis

About this section
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