MCID: SPH018
MIFTS: 31

Spherocytosis, Hereditary, Type 5 malady

Blood category

Summaries for Spherocytosis, Hereditary, Type 5

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47OMIM, 33MalaCards
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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:47 612690,182900,270970,612653

Aliases & Classifications for Spherocytosis, Hereditary, Type 5

Sources:
49Orphanet, 61UMLS, 47OMIM, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
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 47
hereditary spherocytosis 49 61
anemia, hereditary spherocytic hemolytic 61
minkowski-chauffard disease 49


External Ids:

MESH via Orphanet36 C536356, D013103
ICD10 via Orphanet26 D58.0
SNOMED-CT via Orphanet58 55995005
UMLS via Orphanet62 C0037889, C0221409

Related Diseases for Spherocytosis, Hereditary, Type 5

Sources:
17GeneCards, 18GeneDecks
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Diseases in the hereditary spherocytosis family:

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 74)
idRelated DiseaseScoreTop Affiliating Genes
1hereditary spherocytosis32.1ANK1, SLC4A1, EPB42, SPTB, SPTA1
2hereditary elliptocytosis30.8SLC4A1, SPTB, SPTA1
3thalassemia30.5SPTB, SLC4A1
4pyropoikilocytosis30.3SPTA1
5deficiency anemia30.2SPTA1, SPTB, SLC4A1, ANK1
6trichomegaly, cataract, and hereditary spherocytosis10.6
7gilbert syndrome10.5
8protein s deficiency10.5
9hemochromatosis10.5
10pancytopenia10.4
11splenic infarction10.4
12splenic sequestration10.4
13moyamoya disease10.3
14angioid streaks10.3
15renal tubular acidosis10.3
16cholelithiasis10.3
17renal tubular acidosis, distal10.3
18hemoglobin d disease10.2
19hemoglobin c disease10.2
20iron deficiency anemia10.2
21n syndrome10.2
22protein c deficiency10.2
23cardiomyopathy spherocytosis10.2
24pyropoikilocytosis hereditary10.2
25thromboembolism10.2
26sepsis10.2
27erythema infectiosum10.1
28evans' syndrome10.1
29polycythemia vera10.1
30intrahepatic cholestasis10.1
31hepatitis c10.1
32patent foramen ovale10.1
33beta thalassemia10.1
34familial adenomatous polyposis10.1
35sickle cell anemia10.1
36thrombocytosis10.1
37ischemic neuropathy10.1
38viral pneumonia10.1
39hemoglobinuria10.1
40kernicterus10.1
41alpha thalassemia10.1
42thrombotic thrombocytopenic purpura10.1
43priapism10.1
44portal vein thrombosis10.1
45silicosis10.1
46infectious mononucleosis10.1
47hypertrophic cardiomyopathy10.1
48megaloblastic anemia10.1
49ischemic optic neuropathy10.1
50crigler-najjar syndrome10.1

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

Sources:
47OMIM
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Clinical features from OMIM:

612690,182900,270970,612653

Drugs & Therapeutics for Spherocytosis, Hereditary, Type 5

Sources:
5CenterWatch, 42NIH 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

Search CenterWatch for Spherocytosis, Hereditary, Type 5

Genetic Tests for Spherocytosis, Hereditary, Type 5

Anatomical Context for Spherocytosis, Hereditary, Type 5

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

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Spherocytosis, Hereditary, Type 5

Genetic Variations for Spherocytosis, Hereditary, Type 5

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Spherocytosis, Hereditary, Type 5:

63
id Symbol AA change Variation SNP ID
1EPB42p.Ala112ThrVAR_007482rs28933988
2EPB42p.Arg280GlnVAR_012268
3EPB42p.Asp145TyrVAR_058099
4EPB42p.Arg287CysVAR_058100

Expression for genes affiliated with Spherocytosis, Hereditary, Type 5

Sources:
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

Sources:
54Reactome
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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

Sources:
45Novoseek, 29IUPHAR, 11DrugBank
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Compounds related to Spherocytosis, Hereditary, Type 5 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1glyceraldehyde 3-phosphate459.0SPTB, SLC4A1
2phosphatidylserine45 29 1111.0SPTB, ANK1

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

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

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

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

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet