MCID: SPH019
MIFTS: 14

Spherocytic Elliptocytosis malady

Summaries for Spherocytic Elliptocytosis

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Sources:
46OMIM, 32MalaCards
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MalaCards: Spherocytic Elliptocytosis, also known as elliptocytosis, hereditary, is related to hereditary elliptocytosis and deficiency anemia. An important gene associated with Spherocytic Elliptocytosis is SPTB (spectrin, beta, erythrocytic).

Description from OMIM:46 166900

Aliases & Classifications for Spherocytic Elliptocytosis

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Sources:
48Orphanet, 46OMIM, 60UMLS, 26ICD10 via Orphanet
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Classifications:



Aliases & Descriptions:

spherocytic elliptocytosis 48 46
elliptocytosis, hereditary 60


External Ids:

ICD10 via Orphanet26 D58.1
OMIM46 166900

Related Diseases for Spherocytic Elliptocytosis

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17GeneCards, 18GeneDecks
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Diseases related to Spherocytic Elliptocytosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1hereditary elliptocytosis31.1SPTB, EPB42
2deficiency anemia10.0SPTB
3hereditary spherocytosis10.0SPTB, EPB42

Clinical Features for Spherocytic Elliptocytosis

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46OMIM
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Clinical features from OMIM:

166900

Clinical synopsis from OMIM:

166900

Drugs & Therapeutics for Spherocytic Elliptocytosis

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Spherocytic Elliptocytosis

Drug clinical trials:

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Search NIH Clinical Center for Spherocytic Elliptocytosis

Search CenterWatch for Spherocytic Elliptocytosis

Genetic Tests for Spherocytic Elliptocytosis

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Anatomical Context for Spherocytic Elliptocytosis

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Animal Models for Spherocytic Elliptocytosis or affiliated genes

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Publications for Spherocytic Elliptocytosis

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Genetic Variations for Spherocytic Elliptocytosis

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Expression for genes affiliated with Spherocytic Elliptocytosis

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Spherocytic Elliptocytosis

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Pathways for genes affiliated with Spherocytic Elliptocytosis

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Compounds for genes affiliated with Spherocytic Elliptocytosis

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GO Terms for genes affiliated with Spherocytic Elliptocytosis

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16Gene Ontology
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Molecular functions related to Spherocytic Elliptocytosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1structural constituent of cytoskeletonGO:0052009.1SPTB, EPB42

Products for genes affiliated with Spherocytic Elliptocytosis

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Spherocytic Elliptocytosis

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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