MCID: HRD011
MIFTS: 55

Hereditary Spherocytosis

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

Aliases & Classifications for Hereditary Spherocytosis

MalaCards integrated aliases for Hereditary Spherocytosis:

Name: Hereditary Spherocytosis 12 76 53 25 59 37 29 6 15 73
Congenital Spherocytic Hemolytic Anemia 12 76 53 25
Spherocytic Anemia 12 53 25
Congenital Spherocytosis 53 25
Spherocytosis, Type 1 25 73
Anemia, Hereditary Spherocytic Hemolytic 73
Minkowski Chauffard Syndrome 12
Minkowski-Chauffard Disease 59
Spherocytosis, Hereditary 44
Spherocytosis Hereditary 55
Hs 25

Characteristics:

Orphanet epidemiological data:

59
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:



External Ids:

Disease Ontology 12 DOID:12971
ICD10 33 D58.0
ICD9CM 35 282.0
MeSH 44 D013103
NCIt 50 C97074
SNOMED-CT 68 154795009 55995005
Orphanet 59 ORPHA822
MESH via Orphanet 45 C536356 D013103
UMLS via Orphanet 74 C0221409 C0037889
ICD10 via Orphanet 34 D58.0
KEGG 37 H00230

Summaries for Hereditary Spherocytosis

NIH Rare Diseases : 53 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.

MalaCards based summary : Hereditary Spherocytosis, also known as congenital spherocytic hemolytic anemia, is related to thalassemia and neonatal jaundice, and has symptoms including icterus An important gene associated with Hereditary Spherocytosis is SPTB (Spectrin Beta, Erythrocytic), and among its related pathways/superpathways are Cell surface interactions at the vascular wall and L1CAM interactions. The drugs Papaya and Antioxidants have been mentioned in the context of this disorder. Affiliated tissues include spleen, skin and testes, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

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.

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.

Wikipedia : 76 Hereditary spherocytosis (also known as Minkowski–Chauffard syndrome) is an abnormality of red blood... more...

Related Diseases for Hereditary Spherocytosis

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 130)
# Related Disease Score Top Affiliating Genes
1 thalassemia 31.4 HBG1 HFE UGT1A1
2 neonatal jaundice 31.1 PKLR SPTA1 UGT1A1
3 pyropoikilocytosis, hereditary 31.1 SPTA1 SPTB
4 hemolytic anemia 31.1 ANK1 EPB42 PKLR PRDX2 SLC4A1 SPTA1
5 congenital hemolytic anemia 30.9 ANK1 HBG1 PKLR SPTA1 SPTB
6 hereditary elliptocytosis 30.9 ADD2 ANK1 EPB41 GYPC SLC4A1 SPTA1
7 kernicterus 30.8 SLC4A1 UGT1A1
8 beta-thalassemia 30.6 HBG1 HFE RHD SPTB UGT1A1
9 epb42-related hereditary spherocytosis 12.1
10 spherocytosis, type 2 11.9
11 spherocytosis, type 1 11.8
12 spherocytosis, type 3 11.8
13 spherocytosis, type 4 11.8
14 spherocytosis, type 5 11.8
15 hidradenitis suppurativa 11.7
16 mesial temporal lobe epilepsy with hippocampal sclerosis 11.2
17 mucopolysaccharidosis, type vii 11.1
18 anemia, congenital dyserythropoietic, type iii 11.0
19 renal tubular acidosis, distal, autosomal dominant 11.0
20 trichomegaly 11.0
21 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema 11.0
22 blood group incompatibility 10.9 RHD SLC4A1
23 retinohepatoendocrinologic syndrome 10.9 CD47 GYPB RHD
24 vaginal discharge 10.9 GYPC SPTB
25 chronic laryngitis 10.8 CD47 SLC4A1
26 fetal erythroblastosis 10.6 GYPA RHD
27 anemia, autoimmune hemolytic 10.5 GYPA RHD
28 autoimmune disease of blood 10.3 GYPA RHD
29 malaria 10.2 DMTN GYPA GYPB GYPC PKLR RHD
30 gilbert syndrome 10.2
31 splenic infarction 10.2
32 aging 10.1
33 thrombosis 10.1
34 mediastinitis 10.1
35 pulmonary hypertension, primary, 1 10.0
36 cholelithiasis 10.0
37 pancytopenia 10.0
38 pyruvate kinase deficiency of red cells 10.0
39 angioid streaks 10.0
40 renal tubular acidosis 10.0
41 splenic sequestration 10.0
42 hemosiderosis 10.0
43 protein c deficiency 10.0
44 renal tubular acidosis, distal 10.0
45 encephalopathy 10.0
46 coarctation of aorta 9.9
47 moyamoya disease 1 9.9
48 stroke, ischemic 9.9
49 alpha-thalassemia 9.9
50 lymphoma 9.9

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

Symptoms & Phenotypes for Hereditary Spherocytosis

UMLS symptoms related to Hereditary Spherocytosis:


icterus

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

26 (show all 22)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 10.11 HBG1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-119 10.11 EPB41
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-14 10.11 EPB41
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 10.11 RHD
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 10.11 HBG1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-193 10.11 HBG1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 10.11 HBG1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 10.11 RHD EPB41
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 10.11 RHD
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-28 10.11 RHD EPB41 HBG1
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 10.11 EPB41
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-55 10.11 HBG1
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 10.11 HBG1
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-77 10.11 HBG1
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-84 10.11 HBG1
16 Decreased viability GR00221-A-1 10.05 PKLR
17 Decreased viability GR00221-A-2 10.05 PKLR
18 Decreased viability GR00221-A-4 10.05 PKLR
19 Decreased viability GR00301-A 10.05 PKLR
20 Decreased viability GR00342-S-3 10.05 PKLR
21 Decreased viability GR00402-S-2 10.05 PRDX2 RHD SLC4A1 SPTA1 SPTB UGT1A1
22 no effect GR00402-S-1 9.62 GYPC HBG1 HFE PKLR PRDX2 RHD

MGI Mouse Phenotypes related to Hereditary Spherocytosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.2 ADD2 ANK1 ANXA7 BLOC1S6 CD47 DMTN
2 homeostasis/metabolism MP:0005376 10.1 ADD2 ANK1 ANXA7 BLOC1S6 CD47 EPB41
3 immune system MP:0005387 9.97 ANXA7 BLOC1S6 CD47 EPB41 EPB42 HFE
4 liver/biliary system MP:0005370 9.5 ADD2 ANK1 ANXA7 EPB41 HFE SPTA1
5 renal/urinary system MP:0005367 9.17 EPB41 SLC4A1 SPTA1 SPTB ADD2 ANK1

Drugs & Therapeutics for Hereditary Spherocytosis

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Papaya Approved, Nutraceutical Not Applicable
2 Antioxidants Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 GDF 15 in Sickle Cell Disease and Hereditary Spherocytosis Unknown status NCT01201135
2 Hemolysis in Patients With Hereditary Spherocytosis (HS) Unknown status NCT01201174 Not Applicable
3 Splenic Function After Spleen-Preserving Distal Pancreatectomy With Excision of Splenic Artery and Vein Unknown status NCT00778362
4 The Dallas Hereditary Spherocytosis Cohort Study Terminated NCT01141621
5 Single Incision Versus Standard Laparoscopic Splenectomy Withdrawn NCT01276561 Not Applicable
6 Distal Pancreatectomy With Partial Splenectomy for Pancreatic Tumors Withdrawn NCT01412684

Search NIH Clinical Center for Hereditary Spherocytosis

Cochrane evidence based reviews: spherocytosis, hereditary

Genetic Tests for Hereditary Spherocytosis

Genetic tests related to Hereditary Spherocytosis:

# Genetic test Affiliating Genes
1 Hereditary Spherocytosis 29

Anatomical Context for Hereditary Spherocytosis

MalaCards organs/tissues related to Hereditary Spherocytosis:

41
Spleen, Skin, Testes, Heart, Eye, Spinal Cord, Bone

Publications for Hereditary Spherocytosis

Articles related to Hereditary Spherocytosis:

(show top 50) (show all 634)
# Title Authors Year
1
Analysis of erythrocyte membrane proteins in patients with hereditary spherocytosis and other types of haemolytic anaemia. ( 29623813 )
2018
2
Utility of mean sphered cell volume and mean reticulocyte volume for the diagnosis of hereditary spherocytosis. ( 29338606 )
2018
3
Quantitative measurement of red cell surface protein expression reveals new biomarkers for hereditary spherocytosis. ( 29746727 )
2018
4
Are the Reference Ranges and Cutoff Values of Eosin-5'-Maleimide (EMA) Binding Test for Hereditary Spherocytosis Specific for Each Age Group? ( 29945336 )
2018
5
Exome sequencing confirms molecular diagnoses in 38 Chinese families with hereditary spherocytosis. ( 29572776 )
2018
6
Fatal Cardiac Hemochromatosis in a Patient with Hereditary Spherocytosis. ( 29563373 )
2018
7
Flow cytometric osmotic fragility test and eosin-5'-maleimide dye-binding tests are better than conventional osmotic fragility tests for the diagnosis of hereditary spherocytosis. ( 29573337 )
2018
8
Osmotic gradient ektacytometry: A valuable screening test for hereditary spherocytosis and other red blood cell membrane disorders. ( 29024480 )
2018
9
I+-thalassaemia combined with hereditary spherocytosis in the same patient. ( 29434716 )
2018
10
Diagnosis of Hereditary Spherocytosis and Secondary Hemochromatosis in a Patient with Jaundice. ( 29597199 )
2018
11
Next-generation sequencing identified a novel SPTB frameshift insertion causing hereditary spherocytosis in China. ( 29961904 )
2018
12
Targeted next-generation sequencing identifies a novel nonsense mutation in SPTB for hereditary spherocytosis: A case report of a Korean family. ( 29505016 )
2018
13
Genetic diagnosis and pathogenic analysis of an atypical hereditary spherocytosis combined with UGT1A1 partial deficiency: A case report. ( 29115431 )
2018
14
Novel hereditary spherocytosis-associated splice site mutation in the ANK1 gene caused by parental gonosomal mosaicism. ( 29449435 )
2018
15
Blueberry muffin rash secondary to hereditary spherocytosis. ( 29554165 )
2018
16
Molecular Genetic Mechanisms of Hereditary Spherocytosis: Current Perspectives. ( 29402830 )
2018
17
Cryohemolysis, erythrocyte osmotic fragility, and supplementary hematimetric indices in the diagnosis of hereditary spherocytosis. ( 29662857 )
2018
18
Results after laparoscopic partial splenectomy for children with hereditary spherocytosis: Are outcomes influenced by genetic mutation? ( 29506817 )
2018
19
An intrapancreatic accessory spleen presenting as a rapidly growing pancreatic mass after splenectomy in a patient with hereditary spherocytosis: a case report and literature review. ( 29492255 )
2018
20
Management in rare association of Moyamoya syndrome and hereditary spherocytosis. ( 28612582 )
2017
21
Usefulness of the EMA flow cytometric test in the diagnosis of hereditary spherocytosis post-transfusion. ( 28466540 )
2017
22
Extramedullary Hematopoiesis Mimicking Mediastinal Tumor in a Patient with Hereditary Spherocytosis: Case report. ( 29096349 )
2017
23
A de novo ankyrin mutation (ANK1 Q109X) causing severe hereditary spherocytosis from preterm neonatal period. ( 28280995 )
2017
24
A new frameshift mutation of the I^-spectrin gene associated with hereditary spherocytosis. ( 27709257 )
2017
25
Gilbert Syndrome with Concomitant Hereditary Spherocytosis Presenting with Moderate Unconjugated Hyperbilirubinemia. ( 28321066 )
2017
26
Nonimmune hydrops fetalis due to autosomal recessive hereditary spherocytosis. ( 29594000 )
2017
27
A long-term follow-up study of subtotal splenectomy in children with hereditary spherocytosis. ( 28417547 )
2017
28
Hereditary Spherocytosis in the Neonatal Period: A Case Report. ( 28847351 )
2017
29
Moyamoya Syndrome Associated With Hereditary Spherocytosis: An Emerging Clinical Entity. ( 28221268 )
2017
30
Identification of a de novo ANK1 mutation in a Chinese family with hereditary spherocytosis. ( 29099659 )
2017
31
Growth Failure in Hereditary Spherocytosis and the Effect of Splenectomy. ( 28368266 )
2017
32
Erythrophagocytosis by T-cell lymphoma cells in a patient with hereditary spherocytosis post-splenectomy. ( 29143312 )
2017
33
Hereditary Spherocytosis - Diagnosis, Surgical Treatment and Outcomes. A Literature Review. ( 28463670 )
2017
34
Usefulness of Reticulocyte Parameters for Diagnosis of Hereditary Spherocytosis in Children. ( 28596658 )
2017
35
Identification of a novel<i>de novo</i>ANK1 R1426* nonsense mutation in a Chinese family with hereditary spherocytosis by NGS. ( 29228571 )
2017
36
An Infant With Unusually High Unconjugated Hyperbilirubinemia Due to Coexistence of Hereditary Spherocytosis and Gilbert Syndrome. ( 29200157 )
2017
37
Flow cytometric analysis of patients with hereditary spherocytosis - an Indian scenario. ( 28914173 )
2017
38
Congenital dyserythropoietic anemia type II mimicking hereditary spherocytosis in Indian patient with SEC23B-Y462C mutations. ( 28879554 )
2017
39
An<i>ANK1</i>IVS3-2A&amp;gt;C mutation causes exon 4 skipping in two patients from a Chinese family with hereditary spherocytosis. ( 29348906 )
2017
40
Recombinant erythropoietin vs. blood transfusion care in infants with hereditary spherocytosis: a retrospective cohort study of A.I.E.O.P. patients (Associazione Italiana Emato-Oncologia Pediatrica). ( 28263406 )
2017
41
Ventricular assist device implantation in a young patient with non-compaction cardiomyopathy and hereditary spherocytosis. ( 29140423 )
2017
42
A comparative evaluation of Eosin-5'-maleimide flow cytometry reveals a high diagnostic efficacy for hereditary spherocytosis. ( 27339613 )
2016
43
Red blood cell aquaporin-1 expression is decreased in hereditary spherocytosis. ( 27465156 )
2016
44
Open-heart surgery using a centrifugal pump: a case of hereditary spherocytosis. ( 27566068 )
2016
45
Pulmonary arterial hypertension associated with hereditary spherocytosis and splenectomy in a patient with a mutation in the BMPR2 gene. ( 27525076 )
2016
46
Understanding splenectomy for children with hereditary spherocytosis. ( 27394058 )
2016
47
Advances in laboratory diagnosis of hereditary spherocytosis. ( 27837594 )
2016
48
Total versus partial splenectomy in pediatric hereditary spherocytosis: A systematic review and meta-analysis. ( 27300151 )
2016
49
CD44 as a potential screening marker for preliminary differentiation between congenital dyserythropoietic anemia type II and hereditary spherocytosis. ( 27784127 )
2016
50
Aplastic Crisis Secondary to Parvovirus B19 Infection as the First Manifestation of an Undiagnosed Hereditary Spherocytosis: Report of a Pediatric Series of Spanish Patients. ( 26583618 )
2016

Variations for Hereditary Spherocytosis

ClinVar genetic disease variations for Hereditary Spherocytosis:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SPTB NM_001024858.3(SPTB): c.6095T> C (p.Leu2032Pro) single nucleotide variant Pathogenic GRCh38 Chromosome 14, 64767787: 64767787
2 SPTB NM_001024858.3(SPTB): c.6095T> C (p.Leu2032Pro) single nucleotide variant Pathogenic GRCh37 Chromosome 14, 65234505: 65234505
3 SPTB duplication Likely pathogenic

Expression for Hereditary Spherocytosis

Search GEO for disease gene expression data for Hereditary Spherocytosis.

Pathways for Hereditary Spherocytosis

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.71 CD47 GYPA GYPB GYPC
2
Show member pathways
11.59 ANK1 SPTA1 SPTB
3 10.82 GYPA GYPB GYPC
4 10.54 ADD2 DMTN
5 10.28 ANK1 SPTA1 SPTB

GO Terms for Hereditary Spherocytosis

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

# Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 9.98 CD47 GYPB GYPC HFE RHD SLC4A1
2 cytoskeleton GO:0005856 9.87 ADD2 ANK1 DMTN EPB41 EPB42 SPTA1
3 cell cortex GO:0005938 9.63 EPB41 SPTA1 SPTB
4 intrinsic component of the cytoplasmic side of the plasma membrane GO:0031235 9.37 SPTA1 SPTB
5 spectrin-associated cytoskeleton GO:0014731 9.35 ANK1 DMTN EPB41 SPTA1 SPTB
6 spectrin GO:0008091 9.26 SPTA1 SPTB
7 cortical cytoskeleton GO:0030863 9.1 DMTN EPB41 EPB42 GYPC SLC4A1 SPTA1
8 plasma membrane GO:0005886 10.18 ADD2 ANK1 ANXA7 CD47 DMTN EPB41
9 membrane GO:0016020 10.06 ADD2 ANK1 ANXA7 BLOC1S6 CD47 DMTN

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

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton organization GO:0007010 9.71 ANK1 DMTN EPB42 SPTB
2 actin cytoskeleton organization GO:0030036 9.67 ADD2 DMTN EPB41 SPTA1
3 leukocyte migration GO:0050900 9.65 ADD2 CD47 GYPA GYPB GYPC
4 protein-containing complex assembly GO:0065003 9.62 ADD2 DMTN EPB41 HFE
5 actin filament capping GO:0051693 9.33 DMTN SPTA1 SPTB
6 positive regulation of protein binding GO:0032092 9.26 ADD2 EPB41 HFE SPTA1
7 regulation of cell shape GO:0008360 9.02 ANXA7 DMTN EPB41 EPB42 SPTA1

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 ADD2 DMTN EPB41 SPTA1 SPTB
2 actin filament binding GO:0051015 9.55 ADD2 BLOC1S6 DMTN SPTA1 SPTB
3 structural constituent of cytoskeleton GO:0005200 9.35 ANK1 EPB41 EPB42 SPTA1 SPTB
4 ankyrin binding GO:0030506 9.32 SLC4A1 SPTB
5 spectrin binding GO:0030507 8.92 ADD2 ANK1 DMTN EPB41

Sources for Hereditary Spherocytosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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