MCID: CMM019

Common Hereditary Elliptocytosis malady

Genetic diseases, Rare diseases, Immune diseases, Blood diseases categories
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Summaries for Common Hereditary Elliptocytosis

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MalaCards based summary: Common Hereditary Elliptocytosis is related to hereditary elliptocytosis. An important gene associated with Common Hereditary Elliptocytosis is SPTA1 (spectrin, alpha, erythrocytic 1 (elliptocytosis 2)).

Aliases & Classifications for Common Hereditary Elliptocytosis

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Sources:
48Orphanet, 26ICD10 via Orphanet
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Common Hereditary Elliptocytosis, Aliases & Descriptions:

Name: Common Hereditary Elliptocytosis 48


Classifications:

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


External Ids:

ICD10 via Orphanet26 D58.1

Related Diseases for Common Hereditary Elliptocytosis

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Diseases in the Hereditary Elliptocytosis family:

Elliptocytosis 3 Elliptocytosis 2
Elliptocytosis-1 common hereditary elliptocytosis

Diseases related to Common Hereditary Elliptocytosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1hereditary elliptocytosis10.4

Symptoms for Common Hereditary Elliptocytosis

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Drugs & Therapeutics for Common Hereditary Elliptocytosis

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Drug clinical trials:

Search ClinicalTrials for Common Hereditary Elliptocytosis

Search NIH Clinical Center for Common Hereditary Elliptocytosis

Genetic Tests for Common Hereditary Elliptocytosis

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Anatomical Context for Common Hereditary Elliptocytosis

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Animal Models for Common Hereditary Elliptocytosis or affiliated genes

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Publications for Common Hereditary Elliptocytosis

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Articles related to Common Hereditary Elliptocytosis:

idTitleAuthorsYear
1
The common hereditary elliptocytosis-associated I+-spectrin L260P mutation perturbs erythrocyte membranes by stabilizing spectrin in the closed dimer conformation. (23974198)
2013
2
Unique alpha-spectrin mutant in a kindred with common hereditary elliptocytosis. (3818958)
1987

Variations for Common Hereditary Elliptocytosis

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Expression for genes affiliated with Common Hereditary Elliptocytosis

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Expression patterns in normal tissues for genes affiliated with Common Hereditary Elliptocytosis

Search GEO for disease gene expression data for Common Hereditary Elliptocytosis.

Pathways for genes affiliated with Common Hereditary Elliptocytosis

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Compounds for genes affiliated with Common Hereditary Elliptocytosis

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GO Terms for genes affiliated with Common Hereditary Elliptocytosis

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Products for genes affiliated with Common Hereditary Elliptocytosis

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  • Antibodies
  • Proteins
  • Lysates

Sources for Common Hereditary 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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet