MCID: SPH018
MIFTS: 38

Spherocytosis, Hereditary, Type 5 malady

Genetic diseases, Blood diseases, Rare diseases, Immune diseases categories

Summaries for Spherocytosis, Hereditary, Type 5

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48OMIM, 34MalaCards
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MalaCards: Spherocytosis, Hereditary, Type 5, also known as hereditary spherocytosis, is related to hereditary spherocytosis and hemolytic anemia. An important gene associated with Spherocytosis, Hereditary, Type 5 is EPB42 (erythrocyte membrane protein band 4.2), and among its related pathways are Sertoli-Sertoli Cell Junction Dynamics and NCAM signaling for neurite out-growth. The compounds phosphatidylserine and glyceraldehyde 3-phosphate have been mentioned in the context of this disorder. Related mouse phenotypes are liver/biliary system and integument.

Description from OMIM:48 612690,182900,270970,612653

Aliases & Classifications for Spherocytosis, Hereditary, Type 5

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50Orphanet, 63UMLS, 48OMIM, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Blood diseases, Immune diseases


Characteristics (Orphanet epidemiological data):

50
hereditary spherocytosis:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-5/10000; Age of onset: Variable; Age of death: Normal


Aliases & Descriptions:

spherocytosis, hereditary, type 5 48
hereditary spherocytosis 50 63
anemia, hereditary spherocytic hemolytic 63
minkowski-chauffard disease 50


External Ids:

MESH via Orphanet37 C536356, D013103
ICD10 via Orphanet27 D58.0
SNOMED-CT via Orphanet60 55995005
UMLS via Orphanet64 C0037889, C0221409

Related Diseases for Spherocytosis, Hereditary, Type 5

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18GeneCards, 19GeneDecks
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Diseases in the Hereditary Spherocytosis family:

Epb42-Related Hereditary Spherocytosis Slc4a1-Related Spherocytosis
Ank1-Related Spherocytosis Spta1-Related Spherocytosis
Epb42-Related Spherocytosis Sptb-Related Spherocytosis
Spherocytosis, Type 3 Spherocytosis, Type 2
spherocytosis, hereditary, type 5 Spherocytosis, Type 4

Diseases related to Spherocytosis, Hereditary, Type 5 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 78)
idRelated DiseaseScoreTop Affiliating Genes
1hereditary spherocytosis32.3EPB42
2hemolytic anemia30.7SLC4A1, ANK1, SPTB
3hereditary elliptocytosis30.5SPTB, SPTA1, SLC4A1
4pyropoikilocytosis30.3SPTA1
5alpha thalassemia30.1SPTB, SLC4A1
6trichomegaly, cataract, and hereditary spherocytosis10.6
7hemochromatosis10.5
8splenic infarction10.4
9thalassemia10.4
10gilbert syndrome10.4
11pancytopenia10.4
12hypertension10.4
13mediastinitis10.4
14splenic sequestration10.3
15angioid streaks10.3
16protein c deficiency10.3
17renal tubular acidosis10.3
18cholelithiasis10.2
19cerebritis10.2
20moyamoya disease10.2
21congenital hemolytic anemia10.2
22neuropathy10.2
23pulmonary embolism10.2
24epb42-related hereditary spherocytosis10.2
25pyruvate kinase deficiency10.2
26thromboembolism10.2
27sepsis10.2
28vesiculitis10.2
29erythema infectiosum10.1
30hepatitis c10.1
31intrahepatic cholestasis10.1
32polycythemia vera10.1
33evans' syndrome10.1
34sickle cell anemia10.1
35thrombocytosis10.1
36factor v deficiency10.1
37thrombotic thrombocytopenic purpura10.1
38protein s deficiency10.1
39priapism10.1
40kernicterus10.1
41hemoglobinuria10.1
42portal vein thrombosis10.1
43silicosis10.1
44infectious mononucleosis10.1
45hypertrophic cardiomyopathy10.1
46patent foramen ovale10.1
47beta thalassemia10.1
48familial adenomatous polyposis10.1
49ganglioneuroma10.1
50dubin-johnson syndrome10.1

Graphical network of the top 20 diseases related to Spherocytosis, Hereditary, Type 5:



Diseases related to spherocytosis, hereditary, type 5

Symptoms for Spherocytosis, Hereditary, Type 5

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48OMIM
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Clinical features from OMIM:

612690,182900,270970,612653

Drugs & Therapeutics for Spherocytosis, Hereditary, Type 5

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Spherocytosis, Hereditary, Type 5

Drug clinical trials:

Search ClinicalTrials for Spherocytosis, Hereditary, Type 5

Search NIH Clinical Center for Spherocytosis, Hereditary, Type 5

Search CenterWatch for Spherocytosis, Hereditary, Type 5

Genetic Tests for Spherocytosis, Hereditary, Type 5

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Anatomical Context for Spherocytosis, Hereditary, Type 5

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Animal Models for Spherocytosis, Hereditary, Type 5 or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Spherocytosis, Hereditary, Type 5:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.5ANK1, SPTA1, SPTB
2MP:00107718.5SPTA1, SLC4A1, ANK1
3MP:00053678.1SLC4A1, ANK1, SPTA1, SPTB
4MP:00053858.1SLC4A1, ANK1, SPTA1, SPTB
5MP:00053787.9SLC4A1, ANK1, SPTA1, SPTB
6MP:00053977.7SLC4A1, SPTA1, EPB42, SPTB, ANK1
7MP:00053877.7SLC4A1, ANK1, EPB42, SPTA1, SPTB
8MP:00107687.7SLC4A1, SPTB, SPTA1, ANK1
9MP:00053767.6SPTB, SPTA1, EPB42, ANK1, SLC4A1

Publications for Spherocytosis, Hereditary, Type 5

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Variations for Spherocytosis, Hereditary, Type 5

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Spherocytosis, Hereditary, Type 5:

65
id Symbol AA change Variation ID SNP ID
1EPB42p.Ala112ThrVAR_007482rs28933988
2EPB42p.Arg280GlnVAR_012268
3EPB42p.Asp145TyrVAR_058099
4EPB42p.Arg287CysVAR_058100

Clinvar genetic disease variations for Spherocytosis, Hereditary, Type 5:

1 (show all 11)
id Gene Name Type Significance SNP ID Assembly Location
1EPB42NM_000119.2(EPB42): c.424G> A (p.Ala142Thr)single nucleotide variantPathogenicrs104894487GRCh37Chr 15, 43507389: 43507389
2EPB42NM_000119.2(EPB42): c.265delG (p.Val89Trpfs)deletionPathogenicrs266257354GRCh37Chr 15, 43508487: 43508487
3EPB42NM_000119.2(EPB42): c.929G> A (p.Arg310Gln)single nucleotide variantPathogenicrs121917734GRCh37Chr 15, 43500967: 43500967
4EPB42NM_000119.2(EPB42): c.922+1G> Asingle nucleotide variantPathogenicrs266257355GRCh37Chr 15, 43501471: 43501471
5EPB42NM_000119.2(EPB42): c.1747G> T (p.Glu583Ter)single nucleotide variantPathogenicrs115998465GRCh37Chr 15, 43495435: 43495435
6EPB42NM_000119.2(EPB42): c.523G> T (p.Asp175Tyr)single nucleotide variantPathogenicrs143682977GRCh38Chr 15, 43211532: 43211532
7EPB42NM_000119.2(EPB42): c.920C> T (p.Thr307Ile)single nucleotide variantPathogenicrs515726211GRCh38Chr 15, 43209276: 43209276
8EPB42NM_000119.2(EPB42): c.949C> T (p.Arg317Cys)single nucleotide variantPathogenicrs515726212GRCh38Chr 15, 43208749: 43208749
9EPB42NM_000119.2(EPB42): c.950delG (p.Arg317Profs)deletionPathogenicrs515726213GRCh38Chr 15, 43208748: 43208748
10EPB42NM_000119.2(EPB42): c.1699G> A (p.Ala567Thr)single nucleotide variantPathogenicrs45495503GRCh38Chr 15, 43206339: 43206339
11EPB42NM_000119.2(EPB42): c.286+6T> Asingle nucleotide variantPathogenicrs515726214GRCh38Chr 15, 43216262: 43216262

Expression for genes affiliated with Spherocytosis, Hereditary, Type 5

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Spherocytosis, Hereditary, Type 5

Search GEO for disease gene expression data for Spherocytosis, Hereditary, Type 5.

Pathways for genes affiliated with Spherocytosis, Hereditary, Type 5

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51PathCards, 54QIAGEN, 56Reactome
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Pathways related to Spherocytosis, Hereditary, Type 5 according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1SPTB, SPTA1
2
Show member pathways
9.1SPTB, SPTA1
3
Show member pathways
8.5ANK1, SPTA1, SPTB
48.5SPTB, SPTA1, ANK1

Compounds for genes affiliated with Spherocytosis, Hereditary, Type 5

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46Novoseek, 30IUPHAR, 12DrugBank
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Compounds related to Spherocytosis, Hereditary, Type 5 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1phosphatidylserine46 30 1211.2ANK1, SPTB
2glyceraldehyde 3-phosphate469.1SLC4A1, SPTB
3lipid468.8SLC4A1, ANK1, SPTB

GO Terms for genes affiliated with Spherocytosis, Hereditary, Type 5

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17Gene Ontology
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Cellular components related to Spherocytosis, Hereditary, Type 5 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytoskeletonGO:0058569.4ANK1, EPB42
2Z discGO:0300189.3SLC4A1, ANK1
3spectrinGO:0080919.2SPTA1, SPTB
4basolateral plasma membraneGO:0163239.2SLC4A1, ANK1
5intrinsic component of the cytoplasmic side of the plasma membraneGO:0312359.2SPTB, SPTA1
6cortical cytoskeletonGO:0308639.0SLC4A1, ANK1, EPB42
7actin cytoskeletonGO:0156298.8SPTA1, SPTB
8spectrin-associated cytoskeletonGO:0147318.7ANK1, SPTA1, SPTB

Biological processes related to Spherocytosis, Hereditary, Type 5 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1regulation of cell shapeGO:0083609.2EPB42, SPTA1
2plasma membrane organizationGO:0070099.2SPTA1, SPTB
3actin filament cappingGO:0516939.1SPTA1, SPTB
4hemopoiesisGO:0300978.8SPTA1, SPTB
5porphyrin-containing compound biosynthetic processGO:0067798.6ANK1, SPTA1, SPTB
6axon guidanceGO:0074118.4SPTB, SPTA1, ANK1

Molecular functions related to Spherocytosis, Hereditary, Type 5 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ankyrin bindingGO:0305069.4SLC4A1, SPTB
2actin bindingGO:0037799.4SLC4A1, SPTB
3actin filament bindingGO:0510159.0SPTB, SPTA1
4structural constituent of cytoskeletonGO:0052008.1ANK1, EPB42, SPTA1, SPTB
5protein bindingGO:0055157.2SLC4A1, ANK1, EPB42, SPTA1, SPTB

Products for genes affiliated with Spherocytosis, Hereditary, Type 5

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Sources for Spherocytosis, Hereditary, Type 5

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet