MCID: SPH015
MIFTS: 11

Spherocytosis, Type 3 malady

Genetic diseases, Rare diseases, Immune diseases, Blood diseases categories
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Summaries for Spherocytosis, Type 3

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Sources:
47OMIM, 33MalaCards
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MalaCards: Spherocytosis, Type 3 is related to hereditary spherocytosis. An important gene associated with Spherocytosis, Type 3 is SPTA1 (spectrin, alpha, erythrocytic 1 (elliptocytosis 2)).

Description from OMIM:47 270970

Aliases & Classifications for Spherocytosis, Type 3

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Sources:
47OMIM, 62UMLS
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Classifications:

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


Aliases & Descriptions:

spherocytosis, type 3 47 62


Related Diseases for Spherocytosis, Type 3

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Sources:
17GeneCards, 18GeneDecks
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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, Type 3 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1hereditary spherocytosis10.1

Symptoms for Spherocytosis, Type 3

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47OMIM
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Symptoms by clinical synopsis from OMIM:

270970

Clinical features from OMIM:

270970

Drugs & Therapeutics for Spherocytosis, Type 3

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Spherocytosis, Type 3

Search NIH Clinical Center for Spherocytosis, Type 3

Genetic Tests for Spherocytosis, Type 3

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Anatomical Context for Spherocytosis, Type 3

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Animal Models for Spherocytosis, Type 3 or affiliated genes

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Publications for Spherocytosis, Type 3

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Variations for Spherocytosis, Type 3

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Sources:
1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Spherocytosis, Type 3:

1
id Gene Name Type Significance SNP ID Assembly Location
1SPTA1SPTA1, IVS36, A-G, -1single nucleotide variantPathogenic/card/spherocytosis_type_3
2SPTA1SPTA1, IVS30, C-T, -99single nucleotide variantPathogenic/card/spherocytosis_type_3

Expression for genes affiliated with Spherocytosis, Type 3

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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Spherocytosis, Type 3

Search GEO for disease gene expression data for Spherocytosis, Type 3.

Pathways for genes affiliated with Spherocytosis, Type 3

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Compounds for genes affiliated with Spherocytosis, Type 3

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GO Terms for genes affiliated with Spherocytosis, Type 3

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Products for genes affiliated with Spherocytosis, Type 3

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Spherocytosis, Type 3

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet