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 72 49 24 55 36 14 69 28
Congenital Spherocytic Hemolytic Anemia 12 72 49 24
Spherocytic Anemia 12 49 24
Congenital Spherocytosis 49 24
Spherocytosis, Type 1 24 69
Anemia, Hereditary Spherocytic Hemolytic 69
Minkowski Chauffard Syndrome 12
Minkowski-Chauffard Disease 55
Spherocytosis, Hereditary 41
Spherocytosis Hereditary 51
Hs 24

Characteristics:

Orphanet epidemiological data:

55
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 32 D58.0
ICD9CM 34 282.0
MeSH 41 D013103
NCIt 46 C97074
SNOMED-CT 64 154795009 55995005
Orphanet 55 ORPHA822
MESH via Orphanet 42 C536356 D013103
UMLS via Orphanet 70 C0037889 C0221409
ICD10 via Orphanet 33 D58.0
KEGG 36 H00230

Summaries for Hereditary Spherocytosis

NIH Rare Diseases : 49 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: 9/15/2016

MalaCards based summary : Hereditary Spherocytosis, also known as congenital spherocytic hemolytic anemia, is related to hemolytic anemia and hereditary elliptocytosis, and has symptoms including icterus An important gene associated with Hereditary Spherocytosis is ANK1 (Ankyrin 1), 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 hematopoietic system and homeostasis/metabolism

Genetics Home Reference : 24 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 : 72 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

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

(show top 50) (show all 132)
# Related Disease Score Top Affiliating Genes
1 hemolytic anemia 30.9 ANK1 EPB42 PKLR SLC4A1 SPTA1 SPTB
2 hereditary elliptocytosis 30.8 ANK1 EPB41 GYPC SLC4A1 SPTA1 SPTB
3 congenital hemolytic anemia 30.6 ANK1 PKLR SPTB
4 neonatal jaundice 30.6 PKLR SPTA1 UGT1A1
5 pyropoikilocytosis, hereditary 30.5 SPTA1 SPTB
6 kernicterus 30.4 SLC4A1 UGT1A1
7 beta-thalassemia 30.3 HFE RHD SPTB UGT1A1
8 epb42-related hereditary spherocytosis 12.1
9 spherocytosis, type 2 11.9
10 spherocytosis, type 1 11.8
11 spherocytosis, type 3 11.8
12 spherocytosis, type 4 11.8
13 spherocytosis, type 5 11.8
14 hidradenitis suppurativa 11.7
15 mesial temporal lobe epilepsy with hippocampal sclerosis 11.2
16 anemia, congenital dyserythropoietic, type iii 11.0
17 renal tubular acidosis, distal, autosomal dominant 11.0
18 trichomegaly 11.0
19 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema 11.0
20 blood group incompatibility 10.6 RHD SLC4A1
21 retinohepatoendocrinologic syndrome 10.5 CD47 GYPB RHD
22 vaginal discharge 10.5 GYPC SPTB
23 chronic laryngitis 10.5 CD47 SLC4A1
24 fetal erythroblastosis 10.4 GYPA RHD
25 anemia, autoimmune hemolytic 10.3 GYPA RHD
26 bilirubin metabolic disorder 10.2
27 gilbert syndrome 10.2
28 autoimmune disease of blood 10.2 GYPA RHD
29 splenic infarction 10.2
30 malaria 10.2 DMTN GYPA GYPB GYPC PKLR RHD
31 complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy 10.1
32 thalassemia 10.1
33 thrombosis 10.1
34 aging 10.1
35 gallbladder disease 1 10.1
36 mediastinitis 10.1
37 blood group, i system 10.0
38 pulmonary hypertension, primary, 1 10.0
39 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.0
40 cholelithiasis 10.0
41 pancytopenia 10.0
42 pyruvate kinase deficiency of red cells 10.0
43 angioid streaks 10.0
44 renal tubular acidosis 10.0
45 splenic sequestration 10.0
46 hemosiderosis 10.0
47 protein c deficiency 10.0
48 renal tubular acidosis, distal 10.0
49 encephalopathy 10.0
50 coarctation of aorta 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

MGI Mouse Phenotypes related to Hereditary Spherocytosis:

43
# 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 SPTA1 SPTB ADD2 ANK1 ANXA7 BLOC1S6
4 liver/biliary system MP:0005370 9.5 ADD2 ANK1 ANXA7 EPB41 HFE SPTA1
5 renal/urinary system MP:0005367 9.17 SPTA1 SPTB ADD2 ANK1 BLOC1S6 EPB41

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
2 Antioxidants

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
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
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 28

Anatomical Context for Hereditary Spherocytosis

MalaCards organs/tissues related to Hereditary Spherocytosis:

38
Spleen, Skin, Testes, Eye, Heart, Spinal Cord, Bone

Publications for Hereditary Spherocytosis

Articles related to Hereditary Spherocytosis:

(show top 50) (show all 613)
# Title Authors Year
1
Molecular Genetic Mechanisms of Hereditary Spherocytosis: Current Perspectives. ( 29402830 )
2018
2
Utility of mean sphered cell volume and mean reticulocyte volume for the diagnosis of hereditary spherocytosis. ( 29338606 )
2018
3
Genetic diagnosis and pathogenic analysis of an atypical hereditary spherocytosis combined with UGT1A1 partial deficiency: A case report. ( 29115431 )
2018
4
I+-thalassaemia combined with hereditary spherocytosis in the same patient. ( 29434716 )
2018
5
Osmotic gradient ektacytometry: A valuable screening test for hereditary spherocytosis and other red blood cell membrane disorders. ( 29024480 )
2018
6
Novel hereditary spherocytosis-associated splice site mutation in the ANK1 gene caused by parental gonosomal mosaicism. ( 29449435 )
2018
7
Moyamoya Syndrome Associated With Hereditary Spherocytosis: An Emerging Clinical Entity. ( 28221268 )
2017
8
Identification of a novel<i>de novo</i>ANK1 R1426* nonsense mutation in a Chinese family with hereditary spherocytosis by NGS. ( 29228571 )
2017
9
Congenital dyserythropoietic anemia type II mimicking hereditary spherocytosis in Indian patient with SEC23B-Y462C mutations. ( 28879554 )
2017
10
Identification of a de novo ANK1 mutation in a Chinese family with hereditary spherocytosis. ( 29099659 )
2017
11
An Infant With Unusually High Unconjugated Hyperbilirubinemia Due to Coexistence of Hereditary Spherocytosis and Gilbert Syndrome. ( 29200157 )
2017
12
Growth Failure in Hereditary Spherocytosis and the Effect of Splenectomy. ( 28368266 )
2017
13
A long-term follow-up study of subtotal splenectomy in children with hereditary spherocytosis. ( 28417547 )
2017
14
Flow cytometric analysis of patients with hereditary spherocytosis - an Indian scenario. ( 28914173 )
2017
15
Hereditary Spherocytosis in the Neonatal Period: A Case Report. ( 28847351 )
2017
16
Gilbert Syndrome with Concomitant Hereditary Spherocytosis Presenting with Moderate Unconjugated Hyperbilirubinemia. ( 28321066 )
2017
17
Extramedullary Hematopoiesis Mimicking Mediastinal Tumor in a Patient with Hereditary Spherocytosis: Case report. ( 29096349 )
2017
18
Usefulness of the EMA flow cytometric test in the diagnosis of hereditary spherocytosis post-transfusion. ( 28466540 )
2017
19
Hereditary Spherocytosis - Diagnosis, Surgical Treatment and Outcomes. A Literature Review. ( 28463670 )
2017
20
Usefulness of Reticulocyte Parameters for Diagnosis of Hereditary Spherocytosis in Children. ( 28596658 )
2017
21
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
22
A new frameshift mutation of the I^-spectrin gene associated with hereditary spherocytosis. ( 27709257 )
2017
23
Management in rare association of Moyamoya syndrome and hereditary spherocytosis. ( 28612582 )
2017
24
A de novo ankyrin mutation (ANK1 Q109X) causing severe hereditary spherocytosis from preterm neonatal period. ( 28280995 )
2017
25
Erythrophagocytosis by T-cell lymphoma cells in a patient with hereditary spherocytosis post-splenectomy. ( 29143312 )
2017
26
Ventricular assist device implantation in a young patient with non-compaction cardiomyopathy and hereditary spherocytosis. ( 29140423 )
2017
27
An<i>ANK1</i>IVS3-2A>C mutation causes exon 4 skipping in two patients from a Chinese family with hereditary spherocytosis. ( 29348906 )
2017
28
A genetic features and gene interaction study for identifying the genes that cause hereditary spherocytosis. ( 27696975 )
2016
29
Next-generation osmotic gradient ektacytometry for the diagnosis of hereditary spherocytosis: interlaboratory method validation and experience. ( 27559691 )
2016
30
Giant right ventricular outflow tract thrombus in hereditary spherocytosis: a case report. ( 27118929 )
2016
31
Mutational characteristics of ANK1 and SPTB genes in hereditary spherocytosis. ( 26830532 )
2016
32
Red blood cell aquaporin-1 expression is decreased in hereditary spherocytosis. ( 27465156 )
2016
33
Advances in laboratory diagnosis of hereditary spherocytosis. ( 27837594 )
2016
34
A case report of hereditary spherocytosis with concomitant chronic myelocytic leukemia. ( 28352784 )
2016
35
Total versus partial splenectomy in pediatric hereditary spherocytosis: A systematic review and meta-analysis. ( 27300151 )
2016
36
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
37
Paravertebral pseudotumor in patient with hereditary spherocytosis. ( 27536548 )
2016
38
Spinal Cord Infarction in a Patient with Hereditary Spherocytosis: A Case Report and Discussion. ( 27051541 )
2016
39
Previously undiagnosed hereditary spherocytosis in a patient with jaundice and pyelonephritis: a case report. ( 27906107 )
2016
40
Open-heart surgery using a centrifugal pump: a case of hereditary spherocytosis. ( 27566068 )
2016
41
Pulmonary arterial hypertension associated with hereditary spherocytosis and splenectomy in a patient with a mutation in the BMPR2 gene. ( 27525076 )
2016
42
Topological Structures and Membrane Nanostructures of Erythrocytes after Splenectomy in Hereditary Spherocytosis Patients via Atomic Force Microscopy. ( 27557951 )
2016
43
Spleen histology in children with sickle cell disease and hereditary spherocytosis: Hints on the disease pathophysiology. ( 27771375 )
2016
44
CD44 as a potential screening marker for preliminary differentiation between congenital dyserythropoietic anemia type II and hereditary spherocytosis. ( 27784127 )
2016
45
Disease-modifying influences of coexistent G6PD-deficiency, Gilbert syndrome and deletional alpha thalassemia in hereditary spherocytosis: A report of three cases. ( 27108201 )
2016
46
Pyoderma Gangrenosum in a Patient With Hereditary Spherocytosis. ( 26711368 )
2016
47
A comparative evaluation of Eosin-5'-maleimide flow cytometry reveals a high diagnostic efficacy for hereditary spherocytosis. ( 27339613 )
2016
48
Understanding splenectomy for children with hereditary spherocytosis. ( 27394058 )
2016
49
Evaluation of a Flow-Cytometric Osmotic Fragility Test for Hereditary Spherocytosis in Chinese Patients. ( 26505491 )
2016
50
Long-term follow-up of subtotal splenectomy for hereditary spherocytosis: a single-center study. ( 26773041 )
2016

Variations for Hereditary Spherocytosis

ClinVar genetic disease variations for Hereditary Spherocytosis:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ANK1 NM_001142446.1(ANK1): c.5128G> T (p.Glu1710Ter) single nucleotide variant Pathogenic rs137852829 GRCh37 Chromosome 8, 41529963: 41529963
2 ANK1 NM_001142446.1(ANK1): c.5286G> A (p.Trp1762Ter) single nucleotide variant Pathogenic rs137852830 GRCh37 Chromosome 8, 41526016: 41526016
3 ANK1 NM_001142446.1(ANK1): c.5620C> T (p.Arg1874Ter) single nucleotide variant Pathogenic rs137852831 GRCh37 Chromosome 8, 41519441: 41519441
4 ANK1 NM_001142446.1(ANK1): c.1618dupC (p.Leu540Profs) duplication Pathogenic rs397514029 GRCh37 Chromosome 8, 41573253: 41573253

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 9.95 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 10.21 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 complex assembly GO:0006461 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 filament binding GO:0051015 9.56 ADD2 BLOC1S6 SPTA1 SPTB
2 actin binding GO:0003779 9.55 ADD2 DMTN EPB41 SPTA1 SPTB
3 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.54 FGF5 SPTA1 SPTB
4 structural constituent of cytoskeleton GO:0005200 9.35 ANK1 EPB41 EPB42 SPTA1 SPTB
5 ankyrin binding GO:0030506 9.32 SLC4A1 SPTB
6 spectrin binding GO:0030507 8.92 ADD2 ANK1 DMTN EPB41

Sources for Hereditary Spherocytosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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