MCID: HRD011
MIFTS: 51

Hereditary Spherocytosis malady

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

Aliases & Classifications for Hereditary Spherocytosis

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Sources:
23Genetics Home Reference, 65UMLS, 10Disease Ontology, 45NIH Rare Diseases, 12DISEASES, 51Orphanet, 47Novoseek, 36MeSH, 24GTR, 27ICD10, 29ICD9CM, 42NCIt, 59SNOMED-CT, 66UMLS via Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet
See all MalaCards sources

Aliases & Descriptions for Hereditary Spherocytosis:

Name: Hereditary Spherocytosis 10 45 23 12 51 65
Congenital Spherocytic Hemolytic Anemia 10 45 23
Spherocytic Anemia 10 45 23
Spherocytosis, Hereditary 36 24
Congenital Spherocytosis 45 23
Spherocytosis, Type 1 23 65
Anemia, Hereditary Spherocytic Hemolytic 65
 
Minkowski Chauffard Syndrome 10
Minkowski-Chauffard Disease 51
Spherocytosis Hereditary 47
Hartnup Disease 65
H Disease 47
Hs 23

Characteristics:

Orphanet epidemiological data:

51
hereditary spherocytosis:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-5/10000 (Europe); Age of onset: All ages; Age of death: normal life expectancy

Classifications:



External Ids:

Disease Ontology10 DOID:12971
ICD1027 D58.0
ICD9CM29 282.0
MeSH36 D013103
NCIt42 C97074
SNOMED-CT59 154795009, 55995005
Orphanet51 822
UMLS via Orphanet66 C0037889, C0221409
ICD10 via Orphanet28 D58.0
MESH via Orphanet37 C536356, D013103
UMLS65 C0037889, C2674218, C0221409

Summaries for Hereditary Spherocytosis

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NIH Rare Diseases:45 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: 10/12/2015

MalaCards based summary: Hereditary Spherocytosis, also known as congenital spherocytic hemolytic anemia, is related to hemoglobin h disease, nondeletional and trichomegaly, cataract, and hereditary spherocytosis. 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 eye, and related mouse phenotypes are liver/biliary system and renal/urinary system.

Disease Ontology:10 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:23 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:68 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
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 399)
idRelated DiseaseScoreTop Affiliating Genes
1hemoglobin h disease, nondeletional34.0G6PD, HBB, UGT1A1
2trichomegaly, cataract, and hereditary spherocytosis12.4
3epb42-related hereditary spherocytosis12.4
4spherocytosis, type 111.7
5sptb-related spherocytosis11.7
6thalassemias, alpha-11.5
7alpha-thalassemia-myelodysplastic syndrome11.4
8spherocytosis, type 311.4
9spherocytosis, hereditary, type 511.4
10spherocytosis, type 411.4
11epidermolysis bullosa dystrophica, ar11.3
12recessive dystrophic epidermolysis bullosa-generalized other11.3
13severe generalized recessive dystrophic epidermolysis bullosa11.3
14hinman syndrome11.3
15alpha-thalassemia myelodysplasia syndrome, somatic11.2
16spastic paraplegia 18, autosomal recessive10.5ANK1, SPTB
17endotheliitis10.5
18breast cancer10.5
19pyropoikilocytosis10.5SPTA1, SPTB
20lymphoma10.5
21leukemia10.4
22trichomegaly10.4
23thyroiditis10.4
24adenocarcinoma10.4
25arterial calcification of infancy10.4CD47, RHD
26systemic lupus erythematosus10.3
27hepatitis10.3
28esophagitis10.3
29prostatitis10.3
30tuberculosis10.3
31pancreatitis10.3
32lupus erythematosus10.3
33chronic congestive splenomegaly10.3ANK1, HBB
34glucosephosphate dehydrogenase deficiency10.3G6PD, PKLR
35pseudohypoparathyroidism10.3G6PD, RHD, SLC4A1
36neonatal jaundice10.3G6PD, SLC4A1, UGT1A1
37lung cancer10.3
38prostate cancer10.3
39retinitis10.3
40neuronitis10.3
41familial adenomatous polyposis10.2GYPA, SPTB
42wernicke encephalopathy10.2G6PD, PKLR, UGT1A1
43thbd-related atypical hemolytic-uremic syndrome10.2HBB, UGT1A1
44arthritis10.2
45cervicitis10.2
46pneumonia10.2
47encephalitis10.2
48corneal disease10.2G6PD, UGT1A1
49pyruvate kinase deficiency10.1G6PD, HFE, PKLR, SLC4A1
50marantic endocarditis10.1GYPA, HBB

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



Diseases related to hereditary spherocytosis

Symptoms for Hereditary Spherocytosis

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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
1Antioxidants2442
2PapayaNutraceutical15

Interventional clinical trials:

idNameStatusNCT IDPhase
1Single Incision Versus Standard Laparoscopic SplenectomyActive, not recruitingNCT01276561
2Splenic Function After Spleen-Preserving Distal Pancreatectomy With Excision of Splenic Artery and VeinActive, not recruitingNCT00778362
3Hemolysis in Patients With Hereditary Spherocytosis (HS)Not yet recruitingNCT01201174
4GDF 15 in Sickle Cell Disease and Hereditary SpherocytosisNot yet recruitingNCT01201135
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

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Anatomical Context for Hereditary Spherocytosis

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MalaCards organs/tissues related to Hereditary Spherocytosis:

33
Spleen, Skin, Eye, Brain, Lung, Bone, Prostate

Animal Models for Hereditary Spherocytosis or affiliated genes

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MGI Mouse Phenotypes related to Hereditary Spherocytosis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.5ADD2, ANK1, EPB41, HFE, SPTA1, SPTB
2MP:00053679.1ADD2, ANK1, BLOC1S6, EPB41, SLC4A1, SPTA1
3MP:00053858.0ADD2, ANK1, ANXA7, BLOC1S6, CD47, G6PD
4MP:00053876.9ADD2, ANK1, ANXA7, BLOC1S6, CD47, EPB41
5MP:00053766.8ADD2, ANK1, ANXA7, BLOC1S6, CD47, EPB41
6MP:00053976.4ADD2, ANK1, ANXA7, BLOC1S6, CD47, DMTN

Publications for Hereditary Spherocytosis

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Articles related to Hereditary Spherocytosis:

(show top 50)    (show all 560)
idTitleAuthorsYear
1
Proportionate Dwarfism in Mice Lacking Heterochromatin Protein 1 Binding Protein 3 (HP1BP3) Is Associated With Alterations in the Endocrine IGF-1 Pathway. (26402843)
2015
2
A Risk-adapted Study of Cisplatin and Etoposide, with or Without Ifosfamide, in Patients with Metastatic Seminoma: Results of the GETUG S99 Multicenter Prospective Study. (24094847)
2014
3
p27KIP1 is involved in ERK1/2-mediated MMP-9 expression via the activation of NF-I_B binding in the IL-7-induced migration and invasion of 5637 cells. (24504262)
2014
4
The correlation between the observed-to-expected total fetal lung volume and intra-thoracic organ herniation on magnetic resonance images in fetuses with isolated left-sided congenital diaphragmatic hernia. (25331381)
2014
5
Molecular links between endothelial dysfunction and neurodegeneration in Alzheimer's disease. (24251393)
2014
6
Vocal cord actinomycosis mimicking a laryngeal tumor. (23573444)
2013
7
Effects of TGF-I^ signaling in clear cell renal cell carcinoma cells. (23618868)
2013
8
Pivotal role of NOD2 in inflammatory processes affecting atherosclerosis and periodontal bone loss. (24324141)
2013
9
Approaches to substance abuse in Cuba: Ricardo A. GonzA!lez MD PhD DrSc. Psychiatrist and consulting professor, Eduardo B. Ordaz. Psychiatric Hospital, Havana. Interviewed by Christina Mills. (24253343)
2013
10
A case of acromegaly complicated with diabetic ketoacidosis, pituitary apoplexy, and lymphoma. (24296058)
2013
11
Lumbar herniation following extended autologous latissimus dorsi breast reconstruction. (23721459)
2013
12
Survey on quality of life related factors in patients with peptic ulcer based on PRECEDE model in Yazd, Iran. (22514574)
2011
13
The histone demethylase UTX enables RB-dependent cell fate control. (20123895)
2010
14
Normal pressure hydrocephalus after gamma knife radiosurgery for vestibular schwannoma. (20739769)
2010
15
Identification of novel alternative splice isoforms of circulating proteins in a mouse model of human pancreatic cancer. (19118015)
2009
16
Prospective study of the effects of concomitant medications on thiopurine metabolism in inflammatory bowel disease. (19650826)
2009
17
Yin Yang 1 regulates the transcriptional activity of androgen receptor. (19668226)
2009
18
Folate supplementation limits the aggressiveness of glioma via the remethylation of DNA repeats element and genes governing apoptosis and proliferation. (19451595)
2009
19
Structure-based mutagenesis of the integrase-LEDGF/p75 interface uncouples a strict correlation between in vitro protein binding and HIV-1 fitness. (16959283)
2007
20
Kikuchi disease with transient eruption in a 7-year-old boy. (17845198)
2007
21
Reactive oxygen species mediate a cellular 'memory' of high glucose stress signalling. (17508197)
2007
22
A case of Churg-Strauss syndrome associated with antiphospholipid antibodies. (17175066)
2007
23
Cholecystokinin-2 receptor modulates cell adhesion through beta 1-integrin in human pancreatic cancer cells. (16547500)
2006
24
The calcium activated nucleotidases: A diverse family of soluble and membrane associated nucleotide hydrolyzing enzymes. (18404472)
2006
25
Maternal origin of inflammatory leukocytes in preterm fetal membranes, shown by fluorescence in situ hybridisation. (16085046)
2005
26
Congenital Spigelian hernia with cryptorchidism: probably a new syndrome. (15782280)
2005
27
Thiopurine S-methyltransferase polymorphisms: efficient screening method for patients considering taking thiopurine drugs. (14985890)
2004
28
Baritosis of the mediastinal lymph nodes. (12842570)
2003
29
Fatty acids liberated from high-density lipoprotein phospholipids by endothelial-derived lipase are incorporated into lipids in HepG2 cells. (12553881)
2003
30
Involvement of TRAIL/TRAIL-R interaction in IFN-alpha-induced apoptosis of Daudi B lymphoma cells. (11448118)
2001
31
Expression of nm23-H1 gene product in esophageal squamous cell carcinoma and its association with vessel invasion and survival. (11319942)
2001
32
Desulfurization and desulfonation: applications of sulfur-controlled gene expression in bacteria. (11762590)
2001
33
Expression profiling of cancer-related genes in human keratinocytes following non-lethal ultraviolet B irradiation. (11532376)
2001
34
Is it retirement time for the ASAT analyses?]. (10765631)
2000
35
Transforming JB6 cells exhibit enhanced integrin-mediated adhesion to osteopontin. (10797562)
2000
36
Vascular surgery between the millenniums. (10731884)
2000
37
Role of octreotide and somatostatin in the treatment of intestinal fistulae. (10207232)
1999
38
Hepatic penicilliosis in patients without skin lesions. (9597255)
1998
39
Characterization of a calmodulin kinase II inhibitor protein in brain. (9724800)
1998
40
Lens lipid peroxides and glutathione concentrations in diabetic cataract. (9133255)
1997
41
Recurrent thrombosis due to compound heterozygosity for factor V Leiden and factor V deficiency. (8735145)
1996
42
Granular cell tumours of the lower respiratory tract. (8522290)
1995
43
Enhanced interferon-gamma production and B7-2 expression in isolated intestinal mononuclear cells from patients with Crohn's disease. (8563891)
1995
44
Investigation of the rate limiting step for electron transfer from NADPH:cytochrome P450 reductase to cytochrome b5: a laser flash-photolysis study. (8179314)
1994
45
Expression of human bone morphogenetic proteins-2 or -4 in murine mesenchymal progenitor C3H10T1/2 cells induces differentiation into distinct mesenchymal cell lineages. (8274220)
1993
46
Hb F-Clarke or alpha 2G gamma 2(65)(E9)Lys-->Asn. (2442123)
1987
47
Intracranial calcification in a neonate with the Sturge Weber syndrome and additional problems. (431990)
1979
48
49
50

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
110.0ANK1, SPTA1, SPTB
2
Show member pathways
10.0ANK1, SPTA1, SPTB
39.7ADD2, DMTN

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:003123510.8SPTA1, SPTB
2spectrinGO:000809110.6EPB41, SPTA1, SPTB
3cytosolGO:00058298.8ANK1, ANXA7, BLOC1S6, DMTN, HBB, SPTA1

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

idNameGO IDScoreTop Affiliating Genes
1erythrocyte maturationGO:004324910.6EPB42, G6PD
2regulation of cell shapeGO:00083609.5ANXA7, DMTN, SPTA1
3positive regulation of protein bindingGO:00320929.1ADD2, EPB41, HFE, SPTA1

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

idNameGO IDScoreTop Affiliating Genes
1actin filament bindingGO:00510159.5ADD2, BLOC1S6, SPTA1, SPTB

Sources for Hereditary Spherocytosis

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet