MCID: SPH018
MIFTS: 36

Spherocytosis, Hereditary, Type 5 malady

Blood diseases category

Summaries for Spherocytosis, Hereditary, Type 5

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46OMIM, 32MalaCards
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MalaCards: Spherocytosis, Hereditary, Type 5, also known as hereditary spherocytosis, is related to hereditary spherocytosis and hereditary elliptocytosis. An important gene associated with Spherocytosis, Hereditary, Type 5 is EPB42 (erythrocyte membrane protein band 4.2), and among its related pathways are NCAM signaling for neurite out-growth and Interaction between L1 and Ankyrins. The compounds glyceraldehyde 3-phosphate and phosphatidylserine have been mentioned in the context of this disorder. Related mouse phenotypes are liver/biliary system and renal/urinary system.

Description from OMIM:46 612690,182900,270970,612653

Aliases & Classifications for Spherocytosis, Hereditary, Type 5

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48Orphanet, 60UMLS, 46OMIM, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Blood diseases


Characteristics (Orphanet epidemiological data):

48
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 46
hereditary spherocytosis 48 60
anemia, hereditary spherocytic hemolytic 60
minkowski-chauffard disease 48


External Ids:

MESH via Orphanet35 C536356, D013103
ICD10 via Orphanet26 D58.0
SNOMED-CT via Orphanet57 55995005
UMLS via Orphanet61 C0037889, C0221409

Related Diseases for Spherocytosis, Hereditary, Type 5

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17GeneCards, 18GeneDecks
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Diseases in the Hereditary Spherocytosis family:

Epb42-Related Hereditary Spherocytosis spherocytosis, hereditary, type 5

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

(show top 50)    (show all 73)
idRelated DiseaseScoreTop Affiliating Genes
1hereditary spherocytosis32.0ANK1, SLC4A1, EPB42, SPTB, SPTA1
2hereditary elliptocytosis30.8SLC4A1, SPTB, SPTA1
3hemolytic anemia30.7ANK1, SLC4A1, SPTB
4deficiency anemia30.3SPTA1, SPTB, SLC4A1, ANK1
5alpha thalassemia30.0SPTB, SLC4A1
6trichomegaly, cataract, and hereditary spherocytosis10.5
7hemochromatosis10.5
8splenic infarction10.4
9thalassemia10.4
10gilbert syndrome10.3
11pancytopenia10.3
12splenic sequestration10.3
13hypertension10.3
14mediastinitis10.3
15moyamoya disease10.3
16angioid streaks10.3
17renal tubular acidosis10.3
18protein c deficiency10.3
19cholelithiasis10.3
20neonatal jaundice10.3
21cerebritis10.2
22iron deficiency anemia10.2
23congenital hemolytic anemia10.2
24neuropathy10.2
25pulmonary embolism10.2
26epb42-related hereditary spherocytosis10.2
27erythema infectiosum10.0
28evans' syndrome10.0
29polycythemia vera10.0
30intrahepatic cholestasis10.0
31hepatitis c10.0
32patent foramen ovale10.0
33beta thalassemia10.0
34familial adenomatous polyposis10.0
35sickle cell anemia10.0
36thrombocytosis10.0
37ischemic neuropathy10.0
38factor v deficiency10.0
39viral pneumonia10.0
40hemoglobinuria10.0
41kernicterus10.0
42thrombotic thrombocytopenic purpura10.0
43priapism10.0
44protein s deficiency10.0
45portal vein thrombosis10.0
46silicosis10.0
47infectious mononucleosis10.0
48hypertrophic cardiomyopathy10.0
49familial hypertrophic cardiomyopathy10.0
50megaloblastic anemia10.0

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



Diseases related to spherocytosis, hereditary, type 5

Clinical Features for Spherocytosis, Hereditary, Type 5

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46OMIM
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Clinical features from OMIM:

612690,182900,270970,612653

Drugs & Therapeutics for Spherocytosis, Hereditary, Type 5

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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

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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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36MGI
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MGI Mouse Phenotypes related to Spherocytosis, Hereditary, Type 5:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.5ANK1, SPTB, SPTA1
2MP:00053678.1SPTA1, SPTB, SLC4A1, ANK1
3MP:00053788.0SPTA1, SPTB, SLC4A1, ANK1
4MP:00053857.9SPTA1, SPTB, SLC4A1, ANK1
5MP:00053977.7SPTA1, SPTB, SLC4A1, EPB42, ANK1
6MP:00053877.6ANK1, EPB42, SLC4A1, SPTB, SPTA1
7MP:00053767.5ANK1, EPB42, SLC4A1, SPTB, SPTA1

Publications for Spherocytosis, Hereditary, Type 5

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Genetic Variations for Spherocytosis, Hereditary, Type 5

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Spherocytosis, Hereditary, Type 5:

62
id Symbol AA change Variation ID SNP ID
1EPB42p.Ala112ThrVAR_007482rs28933988
2EPB42p.Arg280GlnVAR_012268
3EPB42p.Asp145TyrVAR_058099
4EPB42p.Arg287CysVAR_058100

Expression for genes affiliated with Spherocytosis, Hereditary, Type 5

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1BioGPS, 15Gene 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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53Reactome
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Pathways related to Spherocytosis, Hereditary, Type 5 according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3SPTA1, SPTB
28.8SPTA1, SPTB, ANK1

Compounds for genes affiliated with Spherocytosis, Hereditary, Type 5

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44Novoseek, 28IUPHAR, 11DrugBank
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Compounds related to Spherocytosis, Hereditary, Type 5 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1glyceraldehyde 3-phosphate449.0SPTB, SLC4A1
2phosphatidylserine44 28 1111.0SPTB, ANK1

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

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16Gene Ontology
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Cellular components related to Spherocytosis, Hereditary, Type 5 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1spectrinGO:0080919.3SPTB, SPTA1
2actin cytoskeletonGO:0156299.3SPTA1, SPTB
3intrinsic to internal side of plasma membraneGO:0312359.2SPTA1, SPTB
4spectrin-associated cytoskeletonGO:0147318.9SPTA1, SPTB, ANK1
5basolateral plasma membraneGO:0163238.8SLC4A1, ANK1
6cortical cytoskeletonGO:0308638.7SLC4A1, EPB42, ANK1

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

idNameGO IDScoreTop Affiliating Genes
1regulation of cell shapeGO:0083609.5SPTA1, EPB42
2plasma membrane organizationGO:0070099.4SPTA1, SPTB
3actin filament cappingGO:0516939.3SPTA1, SPTB
4hemopoiesisGO:0300979.0SPTA1, SPTB
5porphyrin-containing compound biosynthetic processGO:0067798.9SPTA1, SPTB, ANK1
6axon guidanceGO:0074118.7ANK1, SPTB, SPTA1

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

idNameGO IDScoreTop Affiliating Genes
1actin filament bindingGO:0510159.0SPTB, SPTA1
2ankyrin bindingGO:0305068.9SPTB, SLC4A1
3structural constituent of cytoskeletonGO:0052008.4SPTA1, SPTB, EPB42, ANK1
4protein bindingGO:0055157.5SPTA1, SPTB, SLC4A1, EPB42, ANK1

Products for genes affiliated with Spherocytosis, Hereditary, Type 5

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Sources for Spherocytosis, Hereditary, Type 5

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet