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HS
MCID: HRD011
MIFTS: 60

Hereditary Spherocytosis (HS)

Categories: Blood diseases, Genetic diseases, Immune diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Hereditary Spherocytosis

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MalaCards integrated aliases for Hereditary Spherocytosis:

Name: Hereditary Spherocytosis 12 74 52 25 58 36 29 6 15 71 32
Congenital Spherocytic Hemolytic Anemia 12 74 52 25
Spherocytic Anemia 12 52 25
Congenital Spherocytosis 52 25
Spherocytosis, Type 1 25 71
Anemia, Hereditary Spherocytic Hemolytic 71
Minkowski Chauffard Syndrome 12
Minkowski-Chauffard Syndrome 74
Minkowski-Chauffard Disease 58
Spherocytosis, Hereditary 43
Spherocytosis Hereditary 54
Hs 25

Characteristics:

Orphanet epidemiological data:

58
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:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Immune diseases Blood diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:12971
KEGG 36 H00230
ICD9CM 34 282.0
MeSH 43 D013103
NCIt 49 C97074
SNOMED-CT 67 55995005
ICD10 32 D58.0
MESH via Orphanet 44 C536356 D013103
ICD10 via Orphanet 33 D58.0
UMLS via Orphanet 72 C0037889 C0221409
Orphanet 58 ORPHA822
UMLS 71 C0037889 C0221409 C2674218
Sources

Summaries for Hereditary Spherocytosis

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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. There are four forms of hereditary spherocytosis, which are distinguished by the severity of signs and symptoms. They are known as the mild form, the moderate form, the moderate/severe form, and the severe form. It is estimated that 20 to 30 percent of people with hereditary spherocytosis have the mild form, 60 to 70 percent have the moderate form, 10 percent have the moderate/severe form, and 3 to 5 percent have the severe form. People with the mild form may have very mild anemia or sometimes have no symptoms. People with the moderate form typically have anemia, jaundice, and splenomegaly. Many also develop gallstones. The signs and symptoms of moderate hereditary spherocytosis usually appear in childhood. Individuals with the moderate/severe form have all the features of the moderate form but also have severe anemia. Those with the severe form have life-threatening anemia that requires frequent blood transfusions to replenish their red blood cell supply. They also have severe splenomegaly, jaundice, and a high risk for developing gallstones. Some individuals with the severe form have short stature, delayed sexual development, and skeletal abnormalities.

MalaCards based summary : Hereditary Spherocytosis, also known as congenital spherocytic hemolytic anemia, is related to spherocytosis, type 2 and hemoglobinopathy, and has symptoms including icterus An important gene associated with Hereditary Spherocytosis is SPTB (Spectrin Beta, Erythrocytic), and among its related pathways/superpathways are L1CAM interactions and Cell surface interactions at the vascular wall. The drugs Nitric Oxide and Antioxidants have been mentioned in the context of this disorder. Affiliated tissues include spleen, testes and heart, and related phenotypes are increased red cell osmotic fragility and muscle weakness

Disease Ontology : 12 A congenital hemolytic anemia characterized by the production of red blood cells with a sphere shape, rather than the normal biconcave disk shape.

NIH Rare Diseases : 52 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 . Other symptoms of hemolytic anemia may include feeling that your heart is pounding or racing (palpitations), feeling dizzy, problems concentrating, and headaches. Some people with a severe form of hereditary spherocytosis may have short stature , delayed puberty, 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 .

KEGG : 36 Hereditary spherocytosis (SPH) is a heterogeneous group of disorders characterized by rounded red cells and chronic hemolysis.

Wikipedia : 74 Hereditary spherocytosis is an abnormality of red blood cells, or erythrocytes. The disorder is caused... more...

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Related Diseases for Hereditary Spherocytosis

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Diseases in the Hereditary Spherocytosis family:

Spherocytosis, Type 1 Spherocytosis, Type 3
Spherocytosis, Type 4 Spherocytosis, Type 5
Spherocytosis, Type 2 Epb42-Related Hereditary Spherocytosis

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

(show top 50) (show all 475)
# Related Disease Score Top Affiliating Genes
1 spherocytosis, type 2 33.9 SPTB HBG1
2 hemoglobinopathy 32.3 UGT1A1 HFE HBG1 G6PD
3 hemolytic anemia 32.3 UGT1A1 SPTB SPTA1 SLC4A1 RHD PKLR
4 thalassemia 32.0 UGT1A1 SLC4A1 HFE HBG1 G6PD
5 congenital hemolytic anemia 31.9 SPTB SPTA1 G6PD
6 deficiency anemia 31.9 SPTB SLC4A1 RHD PKLR HFE HBG1
7 anemia, autoimmune hemolytic 31.7 GYPA G6PD CD47
8 beta-thalassemia 31.6 UGT1A1 SPTB RHD HFE HBG1 G6PD
9 hereditary elliptocytosis 31.5 SPTB SPTA1 SLC4A1 SEC23B RHD GYPC
10 neonatal jaundice 31.5 UGT1A1 SPTA1 RHD PKLR G6PD
11 kernicterus 31.3 UGT1A1 SLC4A1 RHD G6PD
12 pyruvate kinase deficiency of red cells 31.3 SEC23B PKLR G6PD
13 congenital dyserythropoietic anemia 31.3 SEC23B RHD HFE EPB42 CD44
14 glucosephosphate dehydrogenase deficiency 31.3 UGT1A1 PKLR G6PD
15 sickle cell anemia 31.2 UGT1A1 HBG1 G6PD
16 alpha-thalassemia 31.1 UGT1A1 HFE HBG1 G6PD
17 pyropoikilocytosis, hereditary 30.9 SPTB SPTA1
18 blood group incompatibility 30.8 SLC4A1 RHD G6PD
19 hereditary stomatocytosis 30.8 SLC4A1 ADD2
20 neonatal anemia 30.7 SPTB RHD
21 malaria 30.6 SLC4A1 RHD PKLR GYPC GYPA G6PD
22 nephrocalcinosis 30.4 SPTA1 SLC4A1 CD44
23 epb42-related hereditary spherocytosis 12.5
24 spherocytosis, type 1 12.3
25 obsolete: trichomegaly-cataract-hereditary spherocytosis syndrome 12.3
26 spherocytosis, type 4 12.3
27 spherocytosis, type 5 12.3
28 spherocytosis, type 3 12.3
29 hidradenitis suppurativa 12.2
30 mesial temporal lobe epilepsy with hippocampal sclerosis 12.2
31 trichomegaly 11.6
32 epidermolysis bullosa dystrophica 11.4
33 mucopolysaccharidosis, type vii 11.4
34 anemia, congenital dyserythropoietic, type iii 11.3
35 renal tubular acidosis, distal, autosomal dominant 11.3
36 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema 11.3
37 hinman syndrome 11.2
38 arteriosclerosis obliterans 11.2
39 splenomegaly 10.9
40 epileptic encephalopathy, early infantile, 5 10.7 SPTB SPTA1 GYPC EPB41
41 cholelithiasis 10.7
42 fetal erythroblastosis 10.7 RHD GYPC GYPA
43 bilirubin metabolic disorder 10.7
44 retinohepatoendocrinologic syndrome 10.6 RHD GYPA CD47
45 congenital nonspherocytic hemolytic anemia 10.6 SEC23B PKLR G6PD
46 gallbladder disease 1 10.6
47 rh isoimmunization 10.6 RHD G6PD
48 epileptic encephalopathy, early infantile, 50 10.6 SEC23B PKLR
49 gilbert syndrome 10.5
50 hemosiderosis 10.5

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
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Symptoms & Phenotypes for Hereditary Spherocytosis

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Human phenotypes related to Hereditary Spherocytosis:

58 31 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 increased red cell osmotic fragility 58 31 hallmark (90%) Very frequent (99-80%) HP:0005502
2 muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0001324
3 splenomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0001744
4 hepatomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002240
5 hypercoagulability 58 31 frequent (33%) Frequent (79-30%) HP:0100724
6 pallor 58 31 frequent (33%) Frequent (79-30%) HP:0000980
7 cholelithiasis 58 31 frequent (33%) Frequent (79-30%) HP:0001081
8 jaundice 58 31 frequent (33%) Frequent (79-30%) HP:0000952
9 hyperbilirubinemia 58 31 frequent (33%) Frequent (79-30%) HP:0002904
10 reticulocytosis 58 31 frequent (33%) Frequent (79-30%) HP:0001923
11 spontaneous hemolytic crises 58 31 frequent (33%) Frequent (79-30%) HP:0005525
12 hypofibrinogenemia 58 31 frequent (33%) Frequent (79-30%) HP:0011900
13 spherocytosis 58 31 frequent (33%) Frequent (79-30%) HP:0004444
14 increased mean corpuscular hemoglobin concentration 58 31 frequent (33%) Frequent (79-30%) HP:0025548
15 ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001251
16 fever 58 31 occasional (7.5%) Occasional (29-5%) HP:0001945
17 abdominal pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0002027
18 myalgia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003326
19 chills 58 31 occasional (7.5%) Occasional (29-5%) HP:0025143
20 maculopapular exanthema 58 31 occasional (7.5%) Occasional (29-5%) HP:0040186
21 extramedullary hematopoiesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001978
22 restrictive cardiomyopathy 31 occasional (7.5%) HP:0001723
23 skin ulcer 58 31 very rare (1%) Very rare (<4-1%) HP:0200042
24 growth delay 58 31 very rare (1%) Very rare (<4-1%) HP:0001510
25 gout 58 31 very rare (1%) Very rare (<4-1%) HP:0001997
26 abdominal distention 58 31 very rare (1%) Very rare (<4-1%) HP:0003270
27 anemia 58 Frequent (79-30%)
28 restrictive heart failure 58 Occasional (29-5%)

UMLS symptoms related to Hereditary Spherocytosis:


icterus

GenomeRNAi Phenotypes related to Hereditary Spherocytosis according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 10.07 PKLR
2 Decreased viability GR00221-A-2 10.07 PKLR
3 Decreased viability GR00221-A-4 10.07 PKLR
4 Decreased viability GR00240-S-1 10.07 CD44
5 Decreased viability GR00301-A 10.07 PKLR
6 Decreased viability GR00342-S-3 10.07 PKLR
7 Decreased viability GR00402-S-2 10.07 ADD2 ANK1 BLOC1S6 CD44 CD47 DMTN
8 no effect GR00402-S-1 9.62 ADD2 ANK1 BLOC1S6 CD44 CD47 DMTN

MGI Mouse Phenotypes related to Hereditary Spherocytosis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.25 ADD2 ANK1 BLOC1S6 CD44 CD47 DMTN
2 homeostasis/metabolism MP:0005376 10.16 ADD2 ANK1 BLOC1S6 CD44 CD47 EPB41
3 cardiovascular system MP:0005385 10.02 ADD2 ANK1 BLOC1S6 CD44 CD47 G6PD
4 immune system MP:0005387 9.97 ADD2 ANK1 BLOC1S6 CD44 CD47 EPB41
5 liver/biliary system MP:0005370 9.5 ADD2 ANK1 CD44 EPB41 HFE SPTA1
6 renal/urinary system MP:0005367 9.23 ADD2 ANK1 BLOC1S6 CD44 EPB41 SLC4A1
Sources

Drugs & Therapeutics for Hereditary Spherocytosis

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Drugs for Hereditary Spherocytosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 22)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nitric Oxide Approved Phase 1 10102-43-9 145068
2 Antioxidants Phase 1
3 Anti-Asthmatic Agents Phase 1
4 Respiratory System Agents Phase 1
5 Neurotransmitter Agents Phase 1
6 Free Radical Scavengers Phase 1
7 Autonomic Agents Phase 1
8 Phosphodiesterase Inhibitors Phase 1
9 Bronchodilator Agents Phase 1
10 Protective Agents Phase 1
11 Vasodilator Agents Phase 1
12 Papaya Approved
13
Hydroxyurea Approved 127-07-1 3657
14
Thrombin Approved, Investigational
15 Antithrombins
16 Fibrin fragment D
17 Epoetin alfa 113427-24-0
18 Hepcidins
19 Factor VIII
20 Antithrombin III
21 Cystatins
22 Bile Acids and Salts

Interventional clinical trials:

(show all 13)
# Name Status NCT ID Phase Drugs
1 Cardiopulmonary Function Assessment and NO Based Therapies for Patients With Hemolysis-Associated Pulmonary Hypertension Completed NCT00352430 Phase 1 Nitric Oxide/INP Pulse Delivery;Nitric Oxide/INO Pulse Delivery
2 The Impact of Growth Differentiating Factor (GDF) 15 in Sickle Cell Disease and Hereditary Spherocytosis Unknown status NCT01201135
3 Oxidative Stress Contributes to Hemolysis in Patients With Hereditary Spherocytosis (HS) and Can be Ameliorated by Fermented Papaya Preparation (FPP) Unknown status NCT01201174
4 Splenic Function After Spleen-Preserving Distal Pancreatectomy With Excision of Splenic Artery and Vein Unknown status NCT00778362
5 Evaluation of Feeding Intolerance in Premature Infants Using Near Infrared Spectroscopy Unknown status NCT02534090
6 Long Term Effects of Erythrocyte Lysis Completed NCT00842621
7 Mortality and Morbidity in a Large Cohort of Asplenic Patients: a Nationwide Survey From the Italian Network on Asplenia Completed NCT03571399
8 Evaluation of Immune Status Before and After Splenectomy in Immune Thrombocytopenia Patients Recruiting NCT03998059
9 Gallbladder Bile Composition in Patients With Gallstones and Healthy Patients Not yet recruiting NCT03981315
10 Gall Bladder Status Among Children With Chronic Haemolytic Anemia Attending to Assuit University Children Hospital Not yet recruiting NCT03533322
11 The Dallas Hereditary Spherocytosis Cohort Study Terminated NCT01141621
12 Single Incision Versus Standard Laparoscopic Splenectomy Withdrawn NCT01276561
13 Pilot Study of Distal Pancreatectomy With Partial Splenectomy for Pancreatic Tumors Arising in the Body and Tail of the Pancreas Withdrawn NCT01412684

Search NIH Clinical Center for Hereditary Spherocytosis

Cochrane evidence based reviews: spherocytosis, hereditary

Sources

Genetic Tests for Hereditary Spherocytosis

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Genetic tests related to Hereditary Spherocytosis:

# Genetic test Affiliating Genes
1 Hereditary Spherocytosis 29
Sources

Anatomical Context for Hereditary Spherocytosis

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MalaCards organs/tissues related to Hereditary Spherocytosis:

40
Spleen, Testes, Heart, Skin, Liver, Bone, Eye
Sources

Publications for Hereditary Spherocytosis

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Articles related to Hereditary Spherocytosis:

(show top 50) (show all 1771)
# Title Authors PMID Year
1
Absence of CD47 in protein 4.2-deficient hereditary spherocytosis in man: an interaction between the Rh complex and the band 3 complex. 54 61 6
12176912 2002
2
Molecular basis of spectrin deficiency in beta spectrin Durham. A deletion within beta spectrin adjacent to the ankyrin-binding site precludes spectrin attachment to the membrane in hereditary spherocytosis. 54 61 6
8675627 1995
3
Band 3 Chur: a variant associated with band 3-deficient hereditary spherocytosis and substitution in a highly conserved position of transmembrane segment 11. 54 61 6
8547122 1995
4
Duplication of 10 nucleotides in the erythroid band 3 (AE1) gene in a kindred with hereditary spherocytosis and band 3 protein deficiency (band 3PRAGUE). 54 61 6
8282779 1994
5
Hereditary spherocytosis associated with protein band 3 defect in a Swiss kindred. 54 61 6
8011524 1994
6
Beta spectrin kissimmee: a spectrin variant associated with autosomal dominant hereditary spherocytosis and defective binding to protein 4.1. 54 61 6
8102379 1993
7
EPB42-Related Hereditary Spherocytosis 61 6
24624460 2014
8
Guidelines for the diagnosis and management of hereditary spherocytosis--2011 update. 61 6
22055020 2012
9
Novel beta-spectrin mutations in hereditary spherocytosis associated with decreased levels of mRNA. 61 6
19538529 2009
10
beta-Spectrin S(ta) Bárbara: a novel frameshift mutation in hereditary spherocytosis associated with detectable levels of mRNA and a germ cell line mosaicism. 61 6
11703334 2001
11
Band 3 Cape Town (E90K) causes severe hereditary spherocytosis in combination with band 3 Prague III. 61 6
11380459 2001
12
A recurrent frameshift mutation of the ankyrin gene associated with severe hereditary spherocytosis. 61 6
11167760 2000
13
Severe hereditary spherocytosis and distal renal tubular acidosis associated with the total absence of band 3. 61 6
10942416 2000
14
4.2 Nippon mutation in a non-Japanese patient with hereditary spherocytosis. 61 6
10406914 1999
15
Homozygous missense mutation (band 3 Fukuoka: G130R): a mild form of hereditary spherocytosis with near-normal band 3 content and minimal changes of membrane ultrastructure despite moderate protein 4.2 deficiency. 61 6
9734643 1998
16
Two distinct truncated variants of ankyrin associated with hereditary spherocytosis. 61 6
9590147 1998
17
Beta-spectrin Promiss-ao: a translation initiation codon mutation of the beta-spectrin gene (ATG --> GTG) associated with hereditary spherocytosis and spectrin deficiency in a Brazilian family. 61 6
9414314 1998
18
Modulation of clinical expression and band 3 deficiency in hereditary spherocytosis. 61 6
9207478 1997
19
Combination of two mutant alpha spectrin alleles underlies a severe spherocytic hemolytic anemia. 61 6
8941647 1996
20
Hereditary spherocytosis with band 3 deficiency. Association with a nonsense mutation of the band 3 gene (allele Lyon), and aggravation by a low-expression allele occurring in trans (allele Genas). 61 6
8704215 1996
21
A nonsense mutation in the erythrocyte band 3 gene associated with decreased mRNA accumulation in a kindred with dominant hereditary spherocytosis. 61 6
8567957 1996
22
A novel mutation causing an aberrant splicing in the protein 4.2 gene associated with hereditary spherocytosis (protein 4.2Notame). 61 6
8528207 1995
23
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. 61 6
7883994 1995
24
Mutations of conserved arginines in the membrane domain of erythroid band 3 lead to a decrease in membrane-associated band 3 and to the phenotype of hereditary spherocytosis. 61 6
7530501 1995
25
Human erythrocyte protein 4.2 deficiency associated with hemolytic anemia and a homozygous 40glutamic acid-->lysine substitution in the cytoplasmic domain of band 3 (band 3Montefiore). 61 6
8471774 1993
26
Band 3 Tuscaloosa: Pro327----Arg327 substitution in the cytoplasmic domain of erythrocyte band 3 protein associated with spherocytic hemolytic anemia and partial deficiency of protein 4.2. 54 6
1378323 1992
27
An alanine-to-threonine substitution in protein 4.2 cDNA is associated with a Japanese form of hereditary hemolytic anemia (protein 4.2NIPPON). 61 6
1558976 1992
28
A genetic defect in the binding of protein 4.1 to spectrin in a kindred with hereditary spherocytosis. 61 6
6215583 1982
29
Monovalent cation leaks in human red cells caused by single amino-acid substitutions in the transport domain of the band 3 chloride-bicarbonate exchanger, AE1. 6
16227998 2005
30
Band 3 Tokyo: Thr837-->Ala837 substitution in erythrocyte band 3 protein associated with spherocytic hemolysis. 6
9973643 1998
31
A point mutation in the protein 4.2 gene (allele 4.2 Tozeur) associated with hereditary haemolytic anaemia. 6
7772513 1995
32
A deletional frameshift mutation in protein 4.2 gene (allele 4.2 Lisboa) associated with hereditary hemolytic anemia. 6
7803799 1995
33
Point mutation in the band 4.2 gene associated with autosomal recessively inherited erythrocyte band 4.2 deficiency. 6
8319790 1993
34
Asynchronous synthesis of membrane skeletal proteins during terminal maturation of murine erythroblasts. 6
1385736 1992
35
A haemolytic syndrome associated with the complete absence of red cell membrane protein 4.2 in two Tunisian siblings. 6
2386772 1990
36
Synthesis and assembly of membrane skeletal proteins in mammalian red cell precursors. 6
3654760 1987
37
Hereditary spherocytosis and the (TA)nTAA polymorphism of UGT1A1 gene promoter region--a comparison of the bilirubin plasmatic levels in the different clinical forms. 54 61
19931474 2010
38
Band 3 Edmonton I, a novel mutant of the anion exchanger 1 causing spherocytosis and distal renal tubular acidosis. 54 61
20028337 2010
39
Beta-spectrinBari: a truncated beta-chain responsible for dominant hereditary spherocytosis. 54 61
19608679 2009
40
Compound mutations in human anion exchanger 1 are associated with complete distal renal tubular acidosis and hereditary spherocytosis. 54 61
19625994 2009
41
Interaction of anion exchanger 1 and glycophorin A in human erythroleukaemic K562 cells. 54 61
19438409 2009
42
Coinheritance of hereditary spherocytosis and reversibility of cirrhosis in a young female patient with hereditary hemochromatosis. 54 61
19380292 2009
43
The role of oxidative stress in hemolytic anemia. 54 61
18991647 2008
44
Hereditary spherocytosis. 54 61
18940465 2008
45
Band 3 Courcouronnes (Ser667Phe): a trafficking mutant differentially rescued by wild-type band 3 and glycophorin A. 54 61
18174378 2008
46
Autoimmune hemolytic anemia. 54 61
18537006 2008
47
A complex splicing defect associated with homozygous ankyrin-deficient hereditary spherocytosis. 54 61
17327413 2007
48
Otopalatodigital syndrome type 2 in two siblings with a novel filamin A 629G>T mutation: clinical, pathological, and molecular findings. 54 61
17431908 2007
49
Pathogenic proline mutation in the linker between spectrin repeats: disease caused by spectrin unfolding. 54 61
17192394 2007
50
Incidence and causes of severe neonatal hyperbilirubinemia in Canada. 54 61
16966660 2006
Sources

Variations for Hereditary Spherocytosis

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ClinVar genetic disease variations for Hereditary Spherocytosis:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SPTB NM_001355436.2(SPTB):c.6095T>C (p.Leu2032Pro)SNV Pathogenic 522602 rs1555366607 14:65234505-65234505 14:64767787-64767787
2 SPTB NM_001355436.2(SPTB):c.4063G>T (p.Glu1355Ter)SNV Pathogenic 624571 rs1566754467 14:65249211-65249211 14:64782493-64782493
3 SPTB NM_001355436.2(SPTB):c.6194_6195dup (p.Ala2066fs)duplication Likely pathogenic 523132 rs1555366592 14:65234404-65234405 14:64767686-64767687
Sources

Expression for Hereditary Spherocytosis

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Search GEO for disease gene expression data for Hereditary Spherocytosis.
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Pathways for Hereditary Spherocytosis

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Pathways related to Hereditary Spherocytosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
L1CAM interactions 65
Show member pathways
 11.53 SPTB SPTA1 ANK1
2
Cell surface interactions at the vascular wall 65
Show member pathways
 11.51 GYPC GYPA CD47 CD44
3
Miscellaneous transport and binding events 65
10.43 DMTN ADD2
4
Interaction between L1 and Ankyrins 65
10.28 SPTB SPTA1 ANK1
Sources

GO Terms for Hereditary Spherocytosis

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Cellular components related to Hereditary Spherocytosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 10.22 SPTB SPTA1 SEC23B PKLR HBG1 GYPA
2 membrane GO:0016020 10.19 UGT1A1 SPTA1 SLC4A1 SEC23B RHD HFE
3 integral component of plasma membrane GO:0005887 10.02 UGT1A1 SLC4A1 RHD HFE GYPC CD47
4 cytoskeleton GO:0005856 10 SPTB SPTA1 EPB42 EPB41 DMTN ANK1
5 basolateral plasma membrane GO:0016323 9.67 SLC4A1 EPB41 CD44 ANK1
6 cytoplasmic side of plasma membrane GO:0009898 9.55 SPTA1 SLC4A1 G6PD EPB41 ANK1
7 spectrin GO:0008091 9.43 SPTB SPTA1
8 spectrin-associated cytoskeleton GO:0014731 9.35 SPTB SPTA1 EPB41 DMTN ANK1
9 intrinsic component of the cytoplasmic side of the plasma membrane GO:0031235 9.32 SPTB SPTA1
10 cortical cytoskeleton GO:0030863 9.1 SPTA1 SLC4A1 GYPC EPB42 EPB41 DMTN

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

# Name GO ID Score Top Affiliating Genes
1 ER to Golgi vesicle-mediated transport GO:0006888 9.73 SPTB SPTA1 SEC23B ANK1
2 actin cytoskeleton organization GO:0030036 9.71 SPTA1 EPB41 DMTN ADD2
3 cytoskeleton organization GO:0007010 9.67 SPTB EPB42 DMTN ANK1
4 regulation of cell shape GO:0008360 9.62 SPTA1 EPB42 EPB41 DMTN
5 protein-containing complex assembly GO:0065003 9.56 HFE EPB41 DMTN ADD2
6 erythrocyte development GO:0048821 9.48 SLC4A1 DMTN
7 erythrocyte maturation GO:0043249 9.46 G6PD EPB42
8 leukocyte migration GO:0050900 9.35 GYPC GYPA CD47 CD44 ADD2
9 actin filament capping GO:0051693 9.33 SPTB SPTA1 DMTN
10 positive regulation of protein binding GO:0032092 8.92 SPTA1 HFE EPB41 ADD2

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

# Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 9.65 SPTB SPTA1 EPB41 DMTN ADD2
2 actin filament binding GO:0051015 9.55 SPTB SPTA1 DMTN BLOC1S6 ADD2
3 ankyrin binding GO:0030506 9.32 SPTB SLC4A1
4 spectrin binding GO:0030507 9.26 EPB41 DMTN ANK1 ADD2
5 structural constituent of cytoskeleton GO:0005200 9.1 SPTB SPTA1 EPB42 EPB41 ANK1 ADD2
Sources

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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