HS
MCID: HRD011
MIFTS: 59

Hereditary Spherocytosis (HS) malady

Immune, Blood categories

Summaries for Hereditary Spherocytosis

Sources:
43NIH Rare Diseases, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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 gilbert syndrome. 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 skin, spinal cord and lung, 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:64 Hereditary spherocytosis (also known as Minkowski–Chauffard syndrome) is a genetically-transmitted... more...

Description from OMIM:47 182900

Aliases & Classifications for Hereditary Spherocytosis

Sources:
61UMLS, 8Disease Ontology, 43NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 10DISEASES, 47OMIM, 45Novoseek, 57SNOMED-CT, 35MeSH, 27ICD9CM, 25ICD10
See all sources

Classifications:

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


Aliases & Descriptions:

hereditary spherocytosis 8 43 22 21 10 61
congenital spherocytic hemolytic anemia 8 43 21
congenital spherocytosis 43 21
spherocytosis, type 1 21 47
spherocytic anemia 43 21
minkowski chauffard syndrome 8
spherocytosis hereditary 45
anemia spherocytic 8
hartnup disease 61
h disease 45
hs 21


External Ids:

Disease Ontology8 DOID:12971
MeSH35 D013103
SNOMED-CT57 55995005, 154795009
ICD9CM27 282.0
ICD1025 D58.0

Related Diseases for Hereditary Spherocytosis

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Hereditary Spherocytosis family:

spherocytosis, hereditary, type 5

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

(show top 50)    (show all 162)
idRelated DiseaseScoreTop Affiliating Genes
1hereditary elliptocytosis30.9G6PD, RHD, SLC4A1, SPTB, SPTA1
2gilbert syndrome30.8UGT1A1, G6PD
3hemochromatosis30.7TFRC, HFE, HP
4thalassemia30.6HFE, HBG1, SLC4A1, SPTB, UGT1A1, TFRC
5cholelithiasis30.4UGT1A1
6pyropoikilocytosis30.3SPTA1
7iron deficiency anemia30.3G6PD, TFRC, HFE
8deficiency anemia30.2SPTA1, G6PD, TFRC, RHD, PKLR, HFE
9sickle cell anemia30.1SPTB
10pyruvate kinase deficiency30.0PKLR, G6PD
11kernicterus30.0G6PD, UGT1A1, RHD
12beta thalassemia30.0TFRC, HFE
13hemoglobinuria30.0HP, G6PD
14paroxysmal nocturnal hemoglobinuria30.0HP, G6PD
15alpha thalassemia30.0G6PD, UGT1A1, HFE, HBG1
16megaloblastic anemia30.0HP, TFRC
17sickle cell disease30.0G6PD, TFRC, UGT1A1, RHD, HBG1, HP
18hartnup disease11.0
19trichomegaly, cataract, and hereditary spherocytosis10.6
20protein s deficiency10.5
21hemoglobin h disease, nondeletional10.4
22hidradenitis suppurativa10.4
23pancytopenia10.4
24splenic infarction10.4
25splenic sequestration10.4
26hemoglobin e disease10.3
27moyamoya disease10.3
28angioid streaks10.3
29renal tubular acidosis10.3
30renal tubular acidosis, distal10.3
31cystinuria10.2
32histiocytic sarcoma10.2
33hemoglobin d disease10.2
34hemoglobin c disease10.2
35n syndrome10.2
36protein c deficiency10.2
37cardiomyopathy spherocytosis10.2
38pyropoikilocytosis hereditary10.2
39thromboembolism10.2
40sepsis10.2
41spherocytosis, hereditary, type 510.2
42temporal lobe epilepsy10.2
43dowling-degos disease10.2
44dyschromatosis symmetrica hereditaria 110.2
45dowling-degos disease 110.2
46dowling-degos disease 210.2
47insulin resistance10.2
48phosphoglycerate mutase deficiency10.1
49hemosiderosis10.1
50acrodermatitis10.1

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



Diseases related to hereditary spherocytosis

Clinical Features for Hereditary Spherocytosis

Sources:
47OMIM
See all sources

Clinical features from OMIM:

182900

Clinical synopsis from OMIM:

182900

Drugs & Therapeutics for Hereditary Spherocytosis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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

Sources:
22GTR
See all sources

Genetic tests related to Hereditary Spherocytosis:

id Genetic test Affiliating Genes
1 Hereditary Spherocytosis22

Anatomical Context for Hereditary Spherocytosis

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Hereditary Spherocytosis:

33
Skin, Spinal cord, Lung, Spleen, Bone marrow, Heart, T cells, B lymphoblasts, B cells, Fetal lung

Animal Models for Hereditary Spherocytosis or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Hereditary Spherocytosis

Sources:
51PubMed
See all sources

Articles related to Hereditary Spherocytosis:

(show top 50)    (show all 515)
idTitleAuthorsYear
1
A Case of hereditary spherocytosis coexisting with Gilbert's syndrome. (23575236)
2013
2
A neonate with Coombs-negative hemolytic jaundice with spherocytes but normal erythrocyte indices: a rare case of autosomal-recessive hereditary spherocytosis due to alpha-spectrin deficiency. (23624969)
2013
3
Laparoscopic splenectomy in patients with hereditary spherocytosis: report on 12 consecutive cases. (24129854)
2013
4
Anesthetic management of a patient with hereditary spherocytosis for laparoscopic cholecystectomy and splenectomy. (23495352)
2012
5
Comprehensive identification of erythrocyte membrane protein deficiency by 2D gel electrophoresis based proteomic analysis in hereditary elliptocytosis and spherocytosis. (22807418)
2012
6
Marked changes in red cell membrane proteins in hereditary spherocytosis: a proteomics approach. (22733371)
2012
7
Laparoscopic versus robotic subtotal splenectomy in hereditary spherocytosis. Potential advantages and limits of an expensive approach. (22476842)
2012
8
Laparoscopic splenectomy in a child with moyamoya syndrome, hereditary spherocytosis, and interstitial lung disease: a mere coincidence or partnership based on genetic similarities. (22606383)
2011
9
Evaluating neonatal hyperbilirubinemia in late preterm Hispanic twins led to the diagnosis of hereditary spherocytosis in them, and in their sibling and in their mother. (21879000)
2011
10
Complementary markers for the clinical severity classification of hereditary spherocytosis in unsplenectomized patients. (21138793)
2011
11
Propolis influence on erythrocyte membrane disorder (hereditary spherocytosis): a first approach. (21130830)
2011
12
Erythrocyte membrane protein destabilization versus clinical outcome in 160 Portuguese Hereditary Spherocytosis patients. (20346007)
2010
13
Hereditary spherocytosis in a 27-year-old woman: case report. (19763011)
2009
14
Presence of cytosolic peroxiredoxin 2 in the erythrocyte membrane of patients with hereditary spherocytosis. (18387321)
2008
15
Hereditary spherocytosis coexisting with Gilbert's syndrome: a diagnostic dilemma. (19037536)
2008
16
Ankyrin-linked hereditary spherocytosis in an African-American kindred. (18704959)
2008
17
Partial splenic embolization in children with hereditary spherocytosis. (18028435)
2008
18
Delayed adverse vascular events after splenectomy in hereditary spherocytosis. (18485083)
2008
19
Painful sensory neuropathy associated with hereditary spherocytosis. (17265023)
2007
20
Stuttering priapism associated with hereditary spherocytosis. (17949526)
2007
21
Physiologically important secondary modifications of red cell membrane in hereditary spherocytosis-evidence for in vivo oxidation and lipid rafts protein variations. (17208471)
2007
22
Kernicterus associated with hereditary spherocytosis and UGT1A1 promoter polymorphism. (16735790)
2006
23
Molecular mechanism of hereditary spherocytosis]. (16617750)
2006
24
Successful recombinant erythropoietin therapy for a developing anemic newborn with hereditary spherocytosis. (16635181)
2006
25
An adult with aplastic crisis induced by human parvovirus B19 as an initial presentation of hereditary spherocytosis. (15906963)
2005
26
Hereditary spherocytosis veiled by anemia and iron deficiency. (16122152)
2005
27
Guidelines for the diagnosis and management of hereditary spherocytosis. (15287938)
2004
28
Hereditary spherocytosis -- prevalence of erythrocyte membrane protein deficiency]. (12828006)
2003
29
Association of hereditary spherocytosis with familial adenomatous polyposis in a pedigree: a new syndrome or coincidence? (12560926)
2003
30
Hereditary spherocytosis in North India: need for more extensive data. (14719601)
2003
31
Autosomal non-dominant hereditary spherocytosis: does it occur in India? (12111779)
2002
32
Reduced incidence of thrombosis in mice with hereditary spherocytosis following neonatal treatment with normal hematopoietic cells. (11389042)
2001
33
Inherited protein C deficiency, protein S deficiency and hyperhomocysteinaemia in a patient with hereditary spherocytosis. (10448604)
1999
34
The role of prophylactic cholecystectomy during splenectomy in children with hereditary spherocytosis. (10442593)
1999
35
Frequent de novo monoallelic expression of beta-spectrin gene (SPTB) in children with hereditary spherocytosis and isolated spectrin deficiency. (9609518)
1998
36
A case of pigmented purpuric eruption associated with hereditary spherocytosis. (9779277)
1998
37
Ankyrin deficiency is the most common defect in dominant and non dominant hereditary spherocytosis. (9299863)
1997
38
Pancytopenia following infection with human parvovirus B19 as a presenting feature of hereditary spherocytosis in two siblings. (9079265)
1997
39
MR findings in hereditary spherocytosis. (7780951)
1995
40
Hereditary spherocytosis associated with protein band 3 defect in a Swiss kindred. (8011524)
1994
41
Coexistence of hereditary spherocytosis (HS) due to band 3 deficiency and beta-thalassaemia trait: partial correction of HS phenotype. (8136278)
1993
42
Hereditary spherocytosis with congestive heart failure: report of a case. (8324341)
1993
43
Absence of phosphorylation-induced gelation of erythrocyte membrane skeletons: a diagnostic tool for hereditary spherocytosis. (1554801)
1992
44
Splenic sequestration associated with sickle cell trait and hereditary spherocytosis. (1585908)
1992
45
Current problems in haematology. 2: Hereditary spherocytosis. (2066420)
1991
46
Phototherapy failure in jaundiced newborns with hereditary spherocytosis. (2333754)
1990
47
Hereditary spherocytosis. (2644787)
1989
48
Transient pancytopenia as an initial manifestation of hereditary spherocytosis. A case report. (3509116)
1987
49
Inhibition of erythropoiesis by human parvovirus-containing serum from a patient with hereditary spherocytosis in aplastic crisis. (3020677)
1986
50
Patients with hereditary spherocytosis may have clinically significant iron overload when they are also heterozygous for hemochromatosis. (6537681)
1985

Genetic Variations for Hereditary Spherocytosis

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Hereditary Spherocytosis:

63
id Symbol AA change Variation SNP ID
1ANK1p.Val463IleVAR_000596
2ANK1p.Leu276ArgVAR_054991
3ANK1p.Ile1054ThrVAR_054992

Expression for genes affiliated with Hereditary Spherocytosis

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

Sources:
54Reactome
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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

Sources:
45Novoseek, 50PharmGKB, 11DrugBank, 24HMDB, 2BitterDB, 29IUPHAR, 60Tocris Bioscience
See all sources

Compounds related to Hereditary Spherocytosis according to GeneCards/GeneDecks:

(show all 36)
idCompoundScoreTop Affiliating Genes
1naoh4510.5SLC4A1, RHD
2glucose4510.3SPTB, SLC4A1, RHD
3artesunate45 5011.2TFRC, G6PD
4aclacinomycin4510.2HBG1, TFRC
5thiobarbituric acid4510.2HP, G6PD
623-diphosphoglycerate4510.2HP, G6PD
7mefloquine45 1111.2RHD, G6PD
8oxalate4510.2RHD, SLC4A1
95-aminolevulinic acid45 2411.0HBG1, HFE, TFRC
10zinc protoporphyrin4510.0G6PD, TFRC, HP
11uric acid45 2410.9G6PD, HFE, HP
12glucose 6-phosphate45 2410.9HP, UGT1A1, G6PD
13vitamin b12459.9G6PD, TFRC, HP
14hydroxyurea45 50 1111.9HBG1, UGT1A1, TFRC
15chloroquine45 2 50 29 1113.9G6PD, TFRC, HP
16polyethylene glycol459.8HP, TFRC, G6PD
17citrate459.8G6PD, TFRC, HP, SLC4A1
18folate459.8G6PD, TFRC, HP, SLC4A1
19benzidine459.8TFRC, UGT1A1, HBG1, HP
20ascorbic acid45 2410.7G6PD, TFRC, HFE, HP
21porphobilinogen45 11 2411.6HBG1, TFRC
22phospholipid459.6SLC4A1, HP, ANXA7, RHD
23iron45 2410.5TFRC, RHD, HFE, HBG1, HP
24aspartate459.3G6PD, TFRC, UGT1A1, RHD, HFE, HP
25phosphatidylserine45 29 1111.3G6PD, RHD, ANXA7, ANK1, CD47, SPTB
26h2o2459.3G6PD, TFRC, RHD, PRDX2, HP
27testosterone45 60 11 2412.3G6PD, TFRC, UGT1A1, HFE, HP
28doxorubicin45 50 1111.3G6PD, TFRC, HBG1, SRI
29atp45 2910.3SLC4A1, HP, PKLR, PRDX2, RHD, G6PD
30cholesterol45 29 11 2412.1SLC4A1, HP, CD47, HFE, UGT1A1
31oxygen45 2410.1G6PD, RHD, PRDX2, CD47, HBG1, SPTB
32dexamethasone45 50 29 1112.0HP, HBG1, PRDX2, UGT1A1, TFRC
33glyceraldehyde 3-phosphate458.9SPTB, G6PD, TFRC, RHD, PRDX2, PKLR
34lipid458.7G6PD, RHD, HFE, ANXA7, ANK1, HP
35tyrosine458.6TFRC, UGT1A1, RHD, PKLR, HFE, ANK1
36serine458.6G6PD, TFRC, RHD, PRDX2, PKLR, CD47

GO Terms for genes affiliated with Hereditary Spherocytosis

Sources:
16Gene Ontology
See all sources

Cellular components related to Hereditary Spherocytosis according to GeneCards/GeneDecks:

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

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Sources for Hereditary Spherocytosis

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet