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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MalaCards based summary: Spherocytosis, Type 3 is related to hereditary spherocytosis, and has symptoms including An important gene associated with Spherocytosis, Type 3 is SPTA1 (spectrin, alpha, erythrocytic 1 (elliptocytosis 2)).

Description from OMIM:46 270970

Aliases & Classifications for Spherocytosis, Type 3

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Spherocytosis, Type 3, Aliases & Descriptions:

Name: Spherocytosis, Type 3 46


Classifications:

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


Related Diseases for Spherocytosis, Type 3

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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 spherocytosis10.2

Symptoms for Spherocytosis, Type 3

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Symptoms by clinical synopsis from OMIM:

270970

Clinical features from OMIM:

270970

HPO human phenotypes related to Spherocytosis, Type 3:

id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 hemolytic anemia HP:0001878
3 spherocytosis HP:0004444

Drugs & Therapeutics for Spherocytosis, Type 3

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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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Clinvar genetic disease variations for Spherocytosis, Type 3:

6
id Gene Name Type Significance SNP ID Assembly Location
1SPTA1SPTA1, IVS36, A-G, -1single nucleotide variantPathogenic
2SPTA1SPTA1, IVS30, C-T, -99single nucleotide variantPathogenic

Expression for genes affiliated with Spherocytosis, Type 3

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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

Sources for Spherocytosis, Type 3

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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