HS
MCID: HRD011
MIFTS: 54

Hereditary Spherocytosis (HS) malady

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

Aliases & Classifications for Hereditary Spherocytosis

Aliases & Descriptions for Hereditary Spherocytosis:

Name: Hereditary Spherocytosis 12 50 25 56 29 14 69
Congenital Spherocytic Hemolytic Anemia 12 50 25
Spherocytic Anemia 12 50 25
Congenital Spherocytosis 50 25
Spherocytosis, Type 1 25 69
Anemia, Hereditary Spherocytic Hemolytic 69
Minkowski Chauffard Syndrome 12
Minkowski-Chauffard Disease 56
Spherocytosis, Hereditary 42
Spherocytosis Hereditary 52
Hs 25

Characteristics:

Orphanet epidemiological data:

56
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 42 D013103
NCIt 47 C97074
SNOMED-CT 64 154795009 55995005
Orphanet 56 ORPHA822
MESH via Orphanet 43 C536356 D013103
UMLS via Orphanet 70 C0221409 C0037889
ICD10 via Orphanet 34 D58.0
UMLS 69 C0037889

Summaries for Hereditary Spherocytosis

NIH Rare Diseases : 50 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 spherocytosis, type 3 and pyropoikilocytosis, 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 Antioxidants and Papaya 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

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.

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.

Wikipedia : 71 Hereditary spherocytosis (also known as Minkowski–Chauffard syndrome) is an autosomal dominant... more...

Related Diseases for Hereditary Spherocytosis

Diseases in the Hereditary Spherocytosis family:

Spherocytosis, Type 3 Spherocytosis, Type 1
Spherocytosis, Hereditary, Type 5 Spherocytosis, Type 4
Hereditary Spherocytosis Type 2 Epb42-Related Hereditary Spherocytosis
Ank1-Related Spherocytosis Epb42-Related Spherocytosis
Slc4a1-Related Spherocytosis Spta1-Related Spherocytosis
Sptb-Related Spherocytosis

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

(show top 50) (show all 127)
id Related Disease Score Top Affiliating Genes
1 spherocytosis, type 3 32.8 SPTA1 SPTB
2 pyropoikilocytosis 30.2 EPB41 SPTA1
3 kernicterus 29.9 ANK1 EPB41 GYPC SLC4A1 SPTA1 SPTB
4 epb42-related hereditary spherocytosis 12.0
5 hereditary spherocytosis type 2 11.9
6 spherocytosis, type 1 11.7
7 spherocytosis, hereditary, type 5 11.6
8 spherocytosis, type 4 11.6
9 hidradenitis suppurativa 11.5
10 sptb-related spherocytosis 11.5
11 dyschromatosis symmetrica hereditaria 11.0
12 dowling-degos disease 2 11.0
13 dowling-degos disease 1 11.0
14 reticulate acropigmentation of kitamura 11.0
15 trichomegaly 10.9
16 recessive dystrophic epidermolysis bullosa-generalized other 10.8
17 epidermolysis bullosa dystrophica, ar 10.8
18 recessive dystrophic epidermolysis bullosa 10.8
19 hinman syndrome 10.8
20 corneal dystrophy, subepithelial mucinous 10.4 EPB41 SLC4A1
21 mental retardation, buenos aires type 10.3 CD47 GYPB RHD
22 adenosine triphosphate, elevated, of erythrocytes 10.3 HFE PKLR SLC4A1
23 erf-related craniosynostosis 10.3 EPB41 SPTB
24 meningeal melanocytoma 10.3 ANK1 HBG1 PKLR SPTB
25 mutism 10.3 RHD SLC4A1
26 thalassemia-beta, dominant inclusion-body 10.3 HBG1 HFE RHD UGT1A1
27 larynx sarcoma 10.3 HBG1 HFE UGT1A1
28 hepatitis b 10.3 ANK1 EPB42 PKLR SLC4A1 SPTA1 SPTB
29 hemolytic anemia 10.1
30 immunodeficiency due to defect in mapbp-interacting protein 10.1 DMTN GYPA GYPB GYPC RHD SLC4A1
31 tracheal cancer 10.1 HBG1 HFE UGT1A1
32 hereditary elliptocytosis 10.1
33 hemochromatosis 10.1
34 splenic infarction 10.1
35 gilbert syndrome 10.1
36 thalassemia 10.1
37 thrombosis 10.1
38 sarcoma 10.0
39 pancytopenia 10.0
40 mediastinitis 10.0
41 cholelithiasis 10.0
42 splenic sequestration 9.9
43 angioid streaks 9.9
44 encephalopathy 9.9
45 pyruvate kinase deficiency 9.9
46 renal tubular acidosis 9.9
47 protein c deficiency 9.9
48 hidradenitis 9.8
49 eclampsia 9.8
50 pre-eclampsia 9.8

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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.2 EPB41 EPB42 HFE PKLR PRDX2 RHD
2 homeostasis/metabolism MP:0005376 10.1 EPB42 HFE PKLR PRDX2 RHD SLC4A1
3 immune system MP:0005387 9.97 ADD2 ANK1 ANXA7 BLOC1S6 CD47 EPB41
4 liver/biliary system MP:0005370 9.5 ADD2 ANK1 ANXA7 EPB41 HFE SPTA1
5 renal/urinary system MP:0005367 9.17 ADD2 ANK1 BLOC1S6 EPB41 SLC4A1 SPTA1

Drugs & Therapeutics for Hereditary Spherocytosis

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


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Antioxidants
2 Papaya Nutraceutical

Interventional clinical trials:


id Name Status NCT ID Phase
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:

id Genetic test Affiliating Genes
1 Hereditary Spherocytosis 29

Anatomical Context for Hereditary Spherocytosis

MalaCards organs/tissues related to Hereditary Spherocytosis:

39
Spleen, Skin, Testes, Eye, Heart, Bone, Spinal Cord

Publications for Hereditary Spherocytosis

Articles related to Hereditary Spherocytosis:

(show top 50) (show all 594)
id Title Authors Year
1
A new frameshift mutation of the I^-spectrin gene associated with hereditary spherocytosis. ( 27709257 )
2017
2
A long-term follow-up study of subtotal splenectomy in children with hereditary spherocytosis. ( 28417547 )
2017
3
Growth Failure in Hereditary Spherocytosis and the Effect of Splenectomy. ( 28368266 )
2017
4
Hereditary Spherocytosis - Diagnosis, Surgical Treatment and Outcomes. A Literature Review. ( 28463670 )
2017
5
Moyamoya Syndrome Associated With Hereditary Spherocytosis: An Emerging Clinical Entity. ( 28221268 )
2017
6
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
7
Gilbert Syndrome with Concomitant Hereditary Spherocytosis Presenting with Moderate Unconjugated Hyperbilirubinemia. ( 28321066 )
2017
8
A de novo ankyrin mutation (ANK1 Q109X) causing severe hereditary spherocytosis from preterm neonatal period. ( 28280995 )
2017
9
Usefulness of the EMA flow cytometric test in the diagnosis of hereditary spherocytosis post-transfusion. ( 28466540 )
2017
10
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
11
Spleen histology in children with sickle cell disease and hereditary spherocytosis: Hints on the disease pathophysiology. ( 27771375 )
2016
12
A case report of hereditary spherocytosis with concomitant chronic myelocytic leukemia. ( 28352784 )
2016
13
Understanding splenectomy for children with hereditary spherocytosis. ( 27394058 )
2016
14
Spinal Cord Infarction in a Patient with Hereditary Spherocytosis: A Case Report and Discussion. ( 27051541 )
2016
15
Giant right ventricular outflow tract thrombus in hereditary spherocytosis: a case report. ( 27118929 )
2016
16
Evaluation of a Flow-Cytometric Osmotic Fragility Test for Hereditary Spherocytosis in Chinese Patients. ( 26505491 )
2016
17
Topological Structures and Membrane Nanostructures of Erythrocytes after Splenectomy in Hereditary Spherocytosis Patients via Atomic Force Microscopy. ( 27557951 )
2016
18
Advances in laboratory diagnosis of hereditary spherocytosis. ( 27837594 )
2016
19
Total versus partial splenectomy in pediatric hereditary spherocytosis: A systematic review and meta-analysis. ( 27300151 )
2016
20
Next-generation osmotic gradient ektacytometry for the diagnosis of hereditary spherocytosis: interlaboratory method validation and experience. ( 27559691 )
2016
21
Mutational characteristics of ANK1 and SPTB genes in hereditary spherocytosis. ( 26830532 )
2016
22
Pulmonary arterial hypertension associated with hereditary spherocytosis and splenectomy in a patient with a mutation in the BMPR2 gene. ( 27525076 )
2016
23
Disease-modifying influences of coexistent G6PD-deficiency, Gilbert syndrome and deletional alpha thalassemia in hereditary spherocytosis: A report of three cases. ( 27108201 )
2016
24
Red blood cell aquaporin-1 expression is decreased in hereditary spherocytosis. ( 27465156 )
2016
25
A genetic features and gene interaction study for identifying the genes that cause hereditary spherocytosis. ( 27696975 )
2016
26
Paravertebral pseudotumor in patient with hereditary spherocytosis. ( 27536548 )
2016
27
Previously undiagnosed hereditary spherocytosis in a patient with jaundice and pyelonephritis: a case report. ( 27906107 )
2016
28
A comparative evaluation of Eosin-5'-maleimide flow cytometry reveals a high diagnostic efficacy for hereditary spherocytosis. ( 27339613 )
2016
29
CD44 as a potential screening marker for preliminary differentiation between congenital dyserythropoietic anemia type II and hereditary spherocytosis. ( 27784127 )
2016
30
Pyoderma Gangrenosum in a Patient With Hereditary Spherocytosis. ( 26711368 )
2016
31
Long-term follow-up of subtotal splenectomy for hereditary spherocytosis: a single-center study. ( 26773041 )
2016
32
Open-heart surgery using a centrifugal pump: a case of hereditary spherocytosis. ( 27566068 )
2016
33
Mean reticulocyte volume: a specific parameter to screen for hereditary spherocytosis. ( 25868528 )
2015
34
Paraspinal extramedullary hematopoiesis in hereditary spherocytosis with a concurrent follicular lymphoma: case report and review of the literature. ( 26369323 )
2015
35
Complex Congenital Cardiac Surgery in an Adult Patient With Hereditary Spherocytosis: Avoidance of Massive Hemolysis Associated With Extracorporeal Circulation in the Presence of Red Blood Cell Fragility. ( 27021177 )
2015
36
An adolescent with hereditary spherocytosis who presented with splenic infarction. ( 26139647 )
2015
37
Malignant systemic hypertension, encephalopathy and bradycardia following splenectomy for hereditary spherocytosis. ( 26009599 )
2015
38
Occurrence of Wilms' tumor in a child with hereditary spherocytosis. ( 26690609 )
2015
39
Percentage of hyperdense cells: Automated parameter to hereditary spherocytosis screening. ( 26210847 )
2015
40
CENTRAL RETINAL VEIN OCCLUSION IN HEREDITARY SPHEROCYTOSIS. ( 26579593 )
2015
41
Eryptosis is induced by hyperthermia in hereditary spherocytosis red blood cells. ( 26509780 )
2015
42
Hereditary Spherocytosis Unmasked by Human Parvovirus B19 Induced Aplastic Crisis in a Family. ( 26379354 )
2015
43
A Diagnostic Pitfall: Salmonella Splenic Infarction in Hereditary Spherocytosis. ( 26272774 )
2015
44
Klebsiella brain abscess in an infant with hereditary spherocytosis. ( 25691204 )
2015
45
Comparison and evaluation of three screening tests of hereditary spherocytosis in Chinese patients. ( 25501660 )
2015
46
A pediatrician's practical guide to diagnosing and treating hereditary spherocytosis in neonates. ( 26009624 )
2015
47
Hereditary Spherocytosis in a Middle-aged Man Complicated with Common Bile Duct Stones. ( 26073240 )
2015
48
Laparoscopic splenectomy for hereditary spherocytosis-preliminary report. ( 26268883 )
2015
49
Identification of a novel p.Q1772X ANK1 mutation in a Korean family with hereditary spherocytosis. ( 26107955 )
2015
50
Hereditary spherocytosis: evaluation of 68 children. ( 25548458 )
2015

Variations for Hereditary Spherocytosis

ClinVar genetic disease variations for Hereditary Spherocytosis:

6
id 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:

id 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:

id Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.91 ADD2 ANK1 DMTN EPB41 EPB42 SPTA1
2 integral component of plasma membrane GO:0005887 9.76 CD47 GYPA GYPB GYPC HFE RHD
3 cell cortex GO:0005938 9.63 EPB41 SPTA1 SPTB
4 intrinsic component of the cytoplasmic side of the plasma membrane GO:0031235 9.4 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 membrane GO:0016020 10.22 ADD2 ANK1 ANXA7 BLOC1S6 CD47 DMTN
9 plasma membrane GO:0005886 10.21 ADD2 ANK1 ANXA7 CD47 DMTN EPB41

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

id 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:

id Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 9.8 ADD2 BLOC1S6 GYPA GYPC SLC4A1 UGT1A1
2 actin filament binding GO:0051015 9.56 ADD2 BLOC1S6 SPTA1 SPTB
3 actin binding GO:0003779 9.55 ADD2 DMTN EPB41 SPTA1 SPTB
4 ankyrin binding GO:0030506 9.37 SLC4A1 SPTB
5 structural constituent of cytoskeleton GO:0005200 9.35 ANK1 EPB41 EPB42 SPTA1 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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