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HS
MCID: HRD011
MIFTS: 63

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 73 20 43 58 36 29 6 15 70 32
Congenital Spherocytic Hemolytic Anemia 12 73 20 43
Spherocytic Anemia 12 20 43
Congenital Spherocytosis 20 43
Spherocytosis, Type 1 43 70
Anemia, Hereditary Spherocytic Hemolytic 70
Minkowski Chauffard Syndrome 12
Minkowski-Chauffard Syndrome 73
Minkowski-Chauffard Disease 58
Spherocytosis, Hereditary 44
Spherocytosis Hereditary 54
Hs 43

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 44 D013103
NCIt 50 C97074
SNOMED-CT 67 154795009
ICD10 32 D58.0
MESH via Orphanet 45 C536356 D013103
ICD10 via Orphanet 33 D58.0
UMLS via Orphanet 71 C0037889 C0221409
Orphanet 58 ORPHA822
UMLS 70 C0037889 C0221409 C2674218
Sources

Summaries for Hereditary Spherocytosis

About this section
MedlinePlus Genetics : 43 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 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema, and has symptoms including icterus An important gene associated with Hereditary Spherocytosis is SPTB (Spectrin Beta, Erythrocytic), and among its related pathways/superpathways are Glucose / Energy Metabolism and L1CAM interactions. The drugs Papaya and Antioxidants have been mentioned in the context of this disorder. Affiliated tissues include spleen, heart and bone marrow, 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.

GARD : 20 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 : 73 Hereditary spherocytosis is an abnormality of red blood cells, or erythrocytes. A chronic disease with a... 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 259)
# Related Disease Score Top Affiliating Genes
1 spherocytosis, type 2 33.3 SPTB SPTA1 HBG1
2 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema 32.3 SPTA1 SLC4A1 RHAG EPB42 EPB41 ANK1
3 hemolytic anemia 32.0 UGT1A1 SPTB SPTA1 SLC4A1 RHD RHAG
4 bilirubin metabolic disorder 31.6 UGT1A8 UGT1A1 RHD G6PD
5 gilbert syndrome 31.5 UGT1A8 UGT1A1 HFE G6PD
6 congenital hemolytic anemia 31.5 SPTB SPTA1 SLC4A1 PKLR HBG1 GYPA
7 deficiency anemia 31.4 SPTB SPTA1 SLC4A1 RHD PKLR HFE
8 hemoglobinopathy 31.3 UGT1A1 HFE HBG1 GYPA G6PD
9 beta-thalassemia 31.2 UGT1A1 SPTB SPTA1 SLC4A1 RHD HFE
10 hereditary elliptocytosis 31.2 SPTB SPTA1 SLC4A1 RHD RHAG GYPC
11 neonatal jaundice 31.2 UGT1A1 SPTA1 PKLR G6PD
12 sickle cell disease 31.1 UGT1A1 RHD HBG1 G6PD
13 sickle cell anemia 31.1 UGT1A8 UGT1A1 HBG1 G6PD
14 glucosephosphate dehydrogenase deficiency 31.0 UGT1A8 UGT1A1 SLC4A1 PKLR G6PD
15 congenital dyserythropoietic anemia 31.0 RHD PKLR HFE EPB42
16 kernicterus 31.0 UGT1A8 UGT1A1 SLC4A1 RHD G6PD
17 alpha-thalassemia 30.8 UGT1A8 UGT1A1 HFE HBG1 G6PD
18 hereditary stomatocytosis 30.8 SLC4A1 RHAG ADD2
19 pyropoikilocytosis, hereditary 30.7 SPTB SPTA1
20 blood group incompatibility 30.5 UGT1A8 UGT1A1 SLC4A1 RHD G6PD
21 pyruvate kinase deficiency of red cells 30.5 PKLR G6PD
22 cryohydrocytosis 30.5 SLC4A1 RHAG
23 neonatal anemia 30.5 RHD PKLR
24 spherocytosis, type 1 11.7
25 spherocytosis, type 4 11.6
26 spherocytosis, type 5 11.6
27 spherocytosis, type 3 11.6
28 epb42-related hereditary spherocytosis 11.2
29 trichomegaly 11.1
30 anemia, congenital dyserythropoietic, type iii 11.0
31 autosomal dominant distal renal tubular acidosis 11.0
32 splenomegaly 10.8
33 thalassemia 10.7
34 cholelithiasis 10.6
35 gallbladder disease 1 10.6
36 developmental and epileptic encephalopathy 5 10.5 SPTB SPTA1 GYPC EPB41 ANK1
37 spinocerebellar ataxia 5 10.5 SPTB EPB41 ANK1
38 anemia, autoimmune hemolytic 10.5
39 glutamate-cysteine ligase deficiency 10.5 SPTA1 SLC4A1 RHD RHAG PKLR EPB41
40 epicardium cancer 10.5 UGT1A8 UGT1A1
41 rh deficiency syndrome 10.5 RHD RHAG GYPA CD47
42 fetal erythroblastosis 10.5 RHD GYPC GYPA
43 hemosiderosis 10.5
44 pigmentation disease 10.5 UGT1A8 UGT1A1 G6PD
45 inclusion body myopathy with early-onset paget disease of bone with or without frontotemporal dementia 1 10.5 RHAG GYPC GYPA
46 otopalatodigital syndrome spectrum disorder 10.5 RHD RHAG GYPA ADD2
47 rh isoimmunization 10.5 RHD G6PD
48 thiopurines, poor metabolism of, 1 10.4 UGT1A8 UGT1A1
49 hemochromatosis, type 1 10.4
50 melnick-needles syndrome 10.4 RHD RHAG GYPC GYPA ADD2

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
Sources

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 pallor 58 31 frequent (33%) Frequent (79-30%) HP:0000980
6 cholelithiasis 58 31 frequent (33%) Frequent (79-30%) HP:0001081
7 jaundice 58 31 frequent (33%) Frequent (79-30%) HP:0000952
8 reticulocytosis 58 31 frequent (33%) Frequent (79-30%) HP:0001923
9 hyperbilirubinemia 58 31 frequent (33%) Frequent (79-30%) HP:0002904
10 hypercoagulability 58 31 frequent (33%) Frequent (79-30%) HP:0100724
11 spherocytosis 58 31 frequent (33%) Frequent (79-30%) HP:0004444
12 hypofibrinogenemia 58 31 frequent (33%) Frequent (79-30%) HP:0011900
13 spontaneous hemolytic crises 58 31 frequent (33%) Frequent (79-30%) HP:0005525
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 maculopapular exanthema 58 31 occasional (7.5%) Occasional (29-5%) HP:0040186
20 extramedullary hematopoiesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001978
21 chills 58 31 occasional (7.5%) Occasional (29-5%) HP:0025143
22 restrictive cardiomyopathy 31 occasional (7.5%) HP:0001723
23 growth delay 58 31 very rare (1%) Very rare (<4-1%) HP:0001510
24 skin ulcer 58 31 very rare (1%) Very rare (<4-1%) HP:0200042
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 9.66 PKLR
2 Decreased viability GR00221-A-2 9.66 PKLR
3 Decreased viability GR00221-A-4 9.66 PKLR
4 Decreased viability GR00249-S 9.66 ADD2 CD47 G6PD GYPC PKLR
5 Decreased viability GR00301-A 9.66 PKLR
6 Decreased viability GR00342-S-3 9.66 PKLR
7 Decreased viability GR00386-A-1 9.66 BLOC1S6 G6PD GYPA RHD SPTA1 UGT1A1
8 Decreased viability GR00402-S-2 9.66 ANK1 CD47 EPB42 G6PD GYPC SPTB

MGI Mouse Phenotypes related to Hereditary Spherocytosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.16 ADD2 ANK1 BLOC1S6 CD47 DMTN EPB41
2 homeostasis/metabolism MP:0005376 10.03 ADD2 ANK1 BLOC1S6 CD47 EPB41 EPB42
3 immune system MP:0005387 9.7 ADD2 ANK1 BLOC1S6 CD47 EPB41 EPB42
4 renal/urinary system MP:0005367 9.17 ADD2 ANK1 BLOC1S6 EPB41 SLC4A1 SPTA1
Sources

Drugs & Therapeutics for Hereditary Spherocytosis

About this section

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Papaya Approved
2 Antioxidants

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Oxidative Stress Contributes to Hemolysis in Patients With Hereditary Spherocytosis (HS) and Can be Ameliorated by Fermented Papaya Preparation (FPP) Unknown status NCT01201174
2 The Impact of Growth Differentiating Factor (GDF) 15 in Sickle Cell Disease and Hereditary Spherocytosis Unknown status NCT01201135
3 Relationships Between Hemolysis, Erythrosis, Circulating Microparticles and Vascular Function in Patients With Hereditary Spherocytosis Not yet recruiting NCT04451785
4 The Dallas Hereditary Spherocytosis Cohort Study Terminated NCT01141621
5 Single Incision Versus Standard Laparoscopic Splenectomy Withdrawn NCT01276561

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, Heart, Bone Marrow, Spinal Cord, Kidney, Myeloid, Liver
Sources

Publications for Hereditary Spherocytosis

About this section

Articles related to Hereditary Spherocytosis:

(show top 50) (show all 1847)
# Title Authors PMID Year
1
A complex splicing defect associated with homozygous ankyrin-deficient hereditary spherocytosis. 54 6 61
17327413 2007
2
Simultaneous (AC)n microsatellite polymorphism analysis and single-stranded conformation polymorphism screening is an efficient strategy for detecting ankyrin-1 mutations in dominant hereditary spherocytosis. 54 6 61
12899723 2003
3
Absence of CD47 in protein 4.2-deficient hereditary spherocytosis in man: an interaction between the Rh complex and the band 3 complex. 61 54 6
12176912 2002
4
Band 3 Chur: a variant associated with band 3-deficient hereditary spherocytosis and substitution in a highly conserved position of transmembrane segment 11. 54 6 61
8547122 1995
5
Duplication of 10 nucleotides in the erythroid band 3 (AE1) gene in a kindred with hereditary spherocytosis and band 3 protein deficiency (band 3PRAGUE). 6 54 61
8282779 1994
6
Hereditary spherocytosis associated with protein band 3 defect in a Swiss kindred. 61 54 6
8011524 1994
7
Beta spectrin kissimmee: a spectrin variant associated with autosomal dominant hereditary spherocytosis and defective binding to protein 4.1. 54 61 6
8102379 1993
8
Novel beta-spectrin mutations in hereditary spherocytosis associated with decreased levels of mRNA. 6 61
19538529 2009
9
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
10
Band 3 Cape Town (E90K) causes severe hereditary spherocytosis in combination with band 3 Prague III. 61 6
11380459 2001
11
A recurrent frameshift mutation of the ankyrin gene associated with severe hereditary spherocytosis. 61 6
11167760 2000
12
Severe hereditary spherocytosis and distal renal tubular acidosis associated with the total absence of band 3. 61 6
10942416 2000
13
Characteristic features of the genotype and phenotype of hereditary spherocytosis in the Japanese population. 6 61
10745622 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
Hereditary spherocytosis with spectrin deficiency related to null mutations of the beta-spectrin gene. 61 6
9714702 1998
17
Two distinct truncated variants of ankyrin associated with hereditary spherocytosis. 61 6
9590147 1998
18
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
19
Modulation of clinical expression and band 3 deficiency in hereditary spherocytosis. 6 61
9207478 1997
20
Combination of two mutant alpha spectrin alleles underlies a severe spherocytic hemolytic anemia. 61 6
8941647 1996
21
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
22
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
23
Spectrin mutations in hereditary elliptocytosis and hereditary spherocytosis. 6 61
8844207 1996
24
A novel mutation causing an aberrant splicing in the protein 4.2 gene associated with hereditary spherocytosis (protein 4.2Notame). 6 61
8528207 1995
25
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
26
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
27
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
28
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
29
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
30
A genetic defect in the binding of protein 4.1 to spectrin in a kindred with hereditary spherocytosis. 6 61
6215583 1982
31
CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels. 6
32576985 2020
32
Genotype-phenotype correlations in hereditary elliptocytosis and hereditary pyropoikilocytosis. 6
27667160 2016
33
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
34
Band 3 Tokyo: Thr837-->Ala837 substitution in erythrocyte band 3 protein associated with spherocytic hemolysis. 6
9973643 1998
35
A point mutation in the protein 4.2 gene (allele 4.2 Tozeur) associated with hereditary haemolytic anaemia. 6
7772513 1995
36
Recurrent fatal hydrops fetalis associated with a nucleotide substitution in the erythrocyte beta-spectrin gene. 6
7883966 1995
37
A deletional frameshift mutation in protein 4.2 gene (allele 4.2 Lisboa) associated with hereditary hemolytic anemia. 6
7803799 1995
38
Point mutation in the band 4.2 gene associated with autosomal recessively inherited erythrocyte band 4.2 deficiency. 6
8319790 1993
39
Asynchronous synthesis of membrane skeletal proteins during terminal maturation of murine erythroblasts. 6
1385736 1992
40
A haemolytic syndrome associated with the complete absence of red cell membrane protein 4.2 in two Tunisian siblings. 6
2386772 1990
41
Synthesis and assembly of membrane skeletal proteins in mammalian red cell precursors. 6
3654760 1987
42
Hereditary spherocytosis and the (TA)nTAA polymorphism of UGT1A1 gene promoter region--a comparison of the bilirubin plasmatic levels in the different clinical forms. 61 54
19931474 2010
43
Band 3 Edmonton I, a novel mutant of the anion exchanger 1 causing spherocytosis and distal renal tubular acidosis. 54 61
20028337 2010
44
Beta-spectrinBari: a truncated beta-chain responsible for dominant hereditary spherocytosis. 54 61
19608679 2009
45
Compound mutations in human anion exchanger 1 are associated with complete distal renal tubular acidosis and hereditary spherocytosis. 54 61
19625994 2009
46
Interaction of anion exchanger 1 and glycophorin A in human erythroleukaemic K562 cells. 61 54
19438409 2009
47
Coinheritance of hereditary spherocytosis and reversibility of cirrhosis in a young female patient with hereditary hemochromatosis. 54 61
19380292 2009
48
The role of oxidative stress in hemolytic anemia. 61 54
18991647 2008
49
Hereditary spherocytosis. 61 54
18940465 2008
50
Band 3 Courcouronnes (Ser667Phe): a trafficking mutant differentially rescued by wild-type band 3 and glycophorin A. 54 61
18174378 2008
Sources

Variations for Hereditary Spherocytosis

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ClinVar genetic disease variations for Hereditary Spherocytosis:

6 (show top 50) (show all 758)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ANK1 NM_000037.4(ANK1):c.5005G>T (p.Glu1669Ter) SNV Pathogenic 506 rs137852829 GRCh37: 8:41529963-41529963
GRCh38: 8:41672445-41672445
2 ANK1 NM_000037.4(ANK1):c.5163G>A (p.Trp1721Ter) SNV Pathogenic 509 rs137852830 GRCh37: 8:41526016-41526016
GRCh38: 8:41668498-41668498
3 ANK1 NM_000037.4(ANK1):c.5497C>T (p.Arg1833Ter) SNV Pathogenic 510 rs137852831 GRCh37: 8:41519441-41519441
GRCh38: 8:41661923-41661923
4 SPTB NM_001355436.2(SPTB):c.604T>C (p.Trp202Arg) SNV Pathogenic 12835 rs121918646 GRCh37: 14:65268515-65268515
GRCh38: 14:64801797-64801797
5 SPTB SPTB, EX22-23DEL Deletion Pathogenic 12838 GRCh37:
GRCh38:
6 SPTB NM_001355436.2(SPTB):c.1912del (p.Arg638fs) Deletion Pathogenic 12842 rs863223304 GRCh37: 14:65260469-65260469
GRCh38: 14:64793751-64793751
7 SPTB NM_001355436.2(SPTB):c.5266C>T (p.Arg1756Ter) SNV Pathogenic 12843 rs267607086 GRCh37: 14:65239585-65239585
GRCh38: 14:64772867-64772867
8 SPTA1 NM_003126.2(SPTA1):c.5190_5310del SNV Pathogenic 12863 rs754614154 GRCh37: 1:158606553-158606553
GRCh38: 1:158636763-158636763
9 SPTA1 SPTA1, IVS30, C-T, -99 SNV Pathogenic 12864 GRCh37:
GRCh38:
10 EPB42 NM_000119.2(EPB42):c.922+1G>A SNV Pathogenic 13236 rs266257355 GRCh37: 15:43501471-43501471
GRCh38: 15:43209273-43209273
11 EPB42 NM_000119.2(EPB42):c.1747G>T (p.Glu583Ter) SNV Pathogenic 13237 rs115998465 GRCh37: 15:43495435-43495435
GRCh38: 15:43203237-43203237
12 EPB42 NM_000119.3(EPB42):c.950del (p.Arg317fs) Deletion Pathogenic 132636 rs515726213 GRCh37: 15:43500946-43500946
GRCh38: 15:43208748-43208748
13 SLC4A1 NM_000342.3(SLC4A1):c.(1094_1375)_(2057+11_2058-41)del Deletion Pathogenic 520435 GRCh37:
GRCh38:
14 ANK1 NM_000037.4(ANK1):c.5152C>T (p.Gln1718Ter) SNV Pathogenic 544800 rs1554522035 GRCh37: 8:41526027-41526027
GRCh38: 8:41668509-41668509
15 ANK1 NM_000037.4(ANK1):c.1702-2A>C SNV Pathogenic 544801 rs1554567249 GRCh37: 8:41571774-41571774
GRCh38: 8:41714256-41714256
16 ANK1 NM_000037.4(ANK1):c.534del (p.His178fs) Deletion Pathogenic 544804 rs1554578304 GRCh37: 8:41583357-41583357
GRCh38: 8:41725839-41725839
17 SPTB NM_001355436.2(SPTB):c.1331_1338del (p.Leu444fs) Deletion Pathogenic 544810 rs1555370967 GRCh37: 14:65263278-65263285
GRCh38: 14:64796560-64796567
18 SPTB NM_001355436.2(SPTB):c.2863C>T (p.Arg955Ter) SNV Pathogenic 544812 rs1555369657 GRCh37: 14:65253820-65253820
GRCh38: 14:64787102-64787102
19 SPTB NM_001355436.2(SPTB):c.5623C>T (p.Gln1875Ter) SNV Pathogenic 544817 rs1555367359 GRCh37: 14:65237778-65237778
GRCh38: 14:64771060-64771060
20 ANK1 NM_000037.4(ANK1):c.1519dup (p.Leu507fs) Duplication Pathogenic 511 rs397514029 GRCh37: 8:41573252-41573253
GRCh38: 8:41715734-41715735
21 SPTA1 NM_003126.4(SPTA1):c.1850dup (p.Ser618fs) Duplication Pathogenic 496724 rs1553234309 GRCh37: 1:158637835-158637836
GRCh38: 1:158668045-158668046
22 EPB42 NM_000119.2(EPB42):c.265delG (p.Val89Trpfs) Deletion Pathogenic 13234 rs266257354 GRCh37: 15:43508487-43508487
GRCh38: 15:43216289-43216289
23 SPTB NM_001355436.2(SPTB):c.1A>G (p.Met1Val) SNV Pathogenic 12841 rs121918651 GRCh37: 14:65289812-65289812
GRCh38: 14:64823094-64823094
24 ANK1 NM_000037.4(ANK1):c.2029C>T (p.Gln677Ter) SNV Pathogenic 617979 rs1563502820 GRCh37: 8:41563729-41563729
GRCh38: 8:41706211-41706211
25 ANK1 NM_000037.4(ANK1):c.3555G>A (p.Trp1185Ter) SNV Pathogenic 811917 rs1586145051 GRCh37: 8:41550697-41550697
GRCh38: 8:41693179-41693179
26 ANK1 NM_000037.4(ANK1):c.4306C>T (p.Arg1436Ter) SNV Pathogenic 811943 rs1586072383 GRCh37: 8:41543754-41543754
GRCh38: 8:41686236-41686236
27 ANK1 NM_000037.4(ANK1):c.4153C>T (p.Arg1385Ter) SNV Pathogenic 811958 rs750820522 GRCh37: 8:41546059-41546059
GRCh38: 8:41688541-41688541
28 SPTA1 NM_003126.4(SPTA1):c.2320C>T (p.Arg774Ter) SNV Pathogenic 931603 GRCh37: 1:158632636-158632636
GRCh38: 1:158662846-158662846
29 SPTA1 GRCh37/hg19 1q23.1(chr1:158655335-158667812) copy number loss Pathogenic 915962 GRCh37: 1:158655335-158667812
GRCh38:
30 ANK1 NM_000037.4(ANK1):c.4462C>T (p.Arg1488Ter) SNV Pathogenic 544802 rs777701149 GRCh37: 8:41542137-41542137
GRCh38: 8:41684619-41684619
31 ANK1 NM_000037.4(ANK1):c.1891G>T (p.Glu631Ter) SNV Pathogenic 993881 GRCh37: 8:41566403-41566403
GRCh38: 8:41708885-41708885
32 ANK1 NM_000037.4(ANK1):c.3092_3095del (p.Gln1031fs) Deletion Pathogenic 994253 GRCh37: 8:41552715-41552718
GRCh38: 8:41695197-41695200
33 ANK1 NM_000037.4(ANK1):c.1702-3_1710del Deletion Pathogenic 994264 GRCh37: 8:41571764-41571775
GRCh38: 8:41714246-41714257
34 ANK1 NM_000037.4(ANK1):c.841C>T (p.Arg281Ter) SNV Pathogenic 994426 GRCh37: 8:41580711-41580711
GRCh38: 8:41723193-41723193
35 ANK1 NM_000037.4(ANK1):c.2389-1G>A SNV Pathogenic 994435 GRCh37: 8:41559141-41559141
GRCh38: 8:41701623-41701623
36 SLC4A1 NM_000342.3(SLC4A1):c.2312G>A (p.Gly771Asp) SNV Pathogenic 17760 rs121912741 GRCh37: 17:42328956-42328956
GRCh38: 17:44251588-44251588
37 SLC4A1 NM_000342.3(SLC4A1):c.988C>T (p.Gln330Ter) SNV Pathogenic 17761 rs121912742 GRCh37: 17:42335880-42335880
GRCh38: 17:44258512-44258512
38 SLC4A1 NM_000342.3(SLC4A1):c.448C>T (p.Arg150Ter) SNV Pathogenic 17762 rs56361140 GRCh37: 17:42337809-42337809
GRCh38: 17:44260441-44260441
39 SLC4A1 NM_000342.3(SLC4A1):c.2509A>G (p.Thr837Ala) SNV Pathogenic 17770 rs121912750 GRCh37: 17:42328673-42328673
GRCh38: 17:44251305-44251305
40 SLC4A1 NM_000342.3(SLC4A1):c.1462G>A (p.Val488Met) SNV Pathogenic 17773 rs28931584 GRCh37: 17:42334882-42334882
GRCh38: 17:44257514-44257514
41 SLC4A1 NM_000342.3(SLC4A1):c.268G>A (p.Glu90Lys) SNV Pathogenic 17775 rs28929480 GRCh37: 17:42338084-42338084
GRCh38: 17:44260716-44260716
42 SLC4A1 NM_000342.3(SLC4A1):c.2279G>A (p.Arg760Gln) SNV Pathogenic 17780 rs121912755 GRCh37: 17:42330518-42330518
GRCh38: 17:44253150-44253150
43 SLC4A1 NM_000342.4(SLC4A1):c.1458C>G (p.Tyr486Ter) SNV Pathogenic 544805 rs1555596072 GRCh37: 17:42334886-42334886
GRCh38: 17:44257518-44257518
44 SLC4A1 NM_000342.4(SLC4A1):c.486-2A>G SNV Pathogenic 544806 rs1555596757 GRCh37: 17:42337302-42337302
GRCh38: 17:44259934-44259934
45 ANK1 NM_000037.4(ANK1):c.3984+2T>C SNV Pathogenic 994042 GRCh37: 8:41547990-41547990
GRCh38: 8:41690472-41690472
46 SLC4A1 NM_000342.4(SLC4A1):c.2278C>T (p.Arg760Trp) SNV Pathogenic 803425 rs373916826 GRCh37: 17:42330519-42330519
GRCh38: 17:44253151-44253151
47 ANK1 NM_000037.4(ANK1):c.1717del (p.Leu573fs) Deletion Pathogenic 973528 GRCh37: 8:41571757-41571757
GRCh38: 8:41714239-41714239
48 SLC4A1 NM_000342.3(SLC4A1):c.2608C>T (p.Arg870Trp) SNV Pathogenic 17776 rs28931585 GRCh37: 17:42328574-42328574
GRCh38: 17:44251206-44251206
49 ANK1 NM_000037.4(ANK1):c.2164C>T (p.Gln722Ter) SNV Pathogenic 994135 GRCh37: 8:41561924-41561924
GRCh38: 8:41704406-41704406
50 ANK1 NM_000037.4(ANK1):c.1801-17G>A SNV Pathogenic 513 rs786205243 GRCh37: 8:41566510-41566510
GRCh38: 8:41708992-41708992
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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
Glucose / Energy Metabolism 4
11.75 UGT1A8 UGT1A1 HBG1 G6PD
2
L1CAM interactions 65
Show member pathways
 11.53 SPTB SPTA1 ANK1
3
Miscellaneous transport and binding events 65
10.43 DMTN ADD2
4
Interaction between L1 and Ankyrins 65
10.28 SPTB SPTA1 ANK1
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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 plasma membrane GO:0005886 10.23 SLC4A1 RHD RHAG HFE GYPC GYPA
2 membrane GO:0016020 10.19 UGT1A8 UGT1A1 SPTA1 SLC4A1 RHD RHAG
3 cytoskeleton GO:0005856 9.98 SPTB SPTA1 EPB42 EPB41 DMTN ANK1
4 integral component of plasma membrane GO:0005887 9.92 UGT1A1 SLC4A1 RHD RHAG HFE GYPC
5 cytoplasmic side of plasma membrane GO:0009898 9.55 SPTA1 SLC4A1 G6PD EPB41 ANK1
6 spectrin GO:0008091 9.4 SPTB SPTA1
7 intrinsic component of the cytoplasmic side of the plasma membrane GO:0031235 9.37 SPTB SPTA1
8 spectrin-associated cytoskeleton GO:0014731 9.35 SPTB SPTA1 EPB41 DMTN ANK1
9 cortical cytoskeleton GO:0030863 9.1 SPTA1 SLC4A1 GYPC EPB42 EPB41 DMTN

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 leukocyte migration GO:0050900 9.81 GYPC GYPA CD47 ADD2
2 actin cytoskeleton organization GO:0030036 9.73 SPTA1 EPB41 DMTN ADD2
3 cytoskeleton organization GO:0007010 9.71 SPTB EPB42 DMTN ANK1
4 regulation of cell shape GO:0008360 9.62 SPTA1 EPB42 EPB41 DMTN
5 drug metabolic process GO:0017144 9.6 UGT1A8 UGT1A1
6 retinoic acid metabolic process GO:0042573 9.59 UGT1A8 UGT1A1
7 erythrocyte development GO:0048821 9.58 SLC4A1 DMTN
8 ion homeostasis GO:0050801 9.58 SLC4A1 EPB42
9 cellular glucuronidation GO:0052695 9.57 UGT1A8 UGT1A1
10 erythrocyte maturation GO:0043249 9.56 G6PD EPB42
11 protein-containing complex assembly GO:0065003 9.56 HFE EPB41 DMTN ADD2
12 xenobiotic glucuronidation GO:0052697 9.55 UGT1A8 UGT1A1
13 flavonoid glucuronidation GO:0052696 9.54 UGT1A8 UGT1A1
14 ammonium transmembrane transport GO:0072488 9.52 RHD RHAG
15 negative regulation of fatty acid metabolic process GO:0045922 9.49 UGT1A8 UGT1A1
16 ammonium transport GO:0015696 9.48 RHD RHAG
17 flavone metabolic process GO:0051552 9.46 UGT1A8 UGT1A1
18 cellular ion homeostasis GO:0006873 9.37 SLC4A1 RHAG
19 negative regulation of steroid metabolic process GO:0045939 9.16 UGT1A8 UGT1A1
20 actin filament capping GO:0051693 9.13 SPTB SPTA1 DMTN
21 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 protein homodimerization activity GO:0042803 9.8 UGT1A8 UGT1A1 SLC4A1 G6PD BLOC1S6 ADD2
2 actin binding GO:0003779 9.77 SPTB SPTA1 EPB41 DMTN ADD2
3 actin filament binding GO:0051015 9.65 SPTB SPTA1 DMTN BLOC1S6 ADD2
4 retinoic acid binding GO:0001972 9.46 UGT1A8 UGT1A1
5 UDP-glycosyltransferase activity GO:0008194 9.43 UGT1A8 UGT1A1
6 ammonium transmembrane transporter activity GO:0008519 9.4 RHD RHAG
7 ankyrin binding GO:0030506 9.33 SPTB SLC4A1 RHAG
8 spectrin binding GO:0030507 9.26 EPB41 DMTN ANK1 ADD2
9 structural constituent of cytoskeleton GO:0005200 9.1 SPTB SPTA1 EPB42 EPB41 ANK1 ADD2
Sources

Sources for Hereditary Spherocytosis

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 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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