MCID: SPH015
MIFTS: 11

Spherocytosis, Type 3 malady

Genetic diseases, Rare diseases, Immune diseases, Blood diseases categories

Summaries for Spherocytosis, Type 3

About this section
Sources:
48OMIM, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
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:48 270970

Aliases & Classifications for Spherocytosis, Type 3

About this section
Sources:
48OMIM, 63UMLS
See all sources

Classifications:

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


Aliases & Descriptions:

spherocytosis, type 3 48 63


Related Diseases for Spherocytosis, Type 3

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

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

About this section
Sources:
48OMIM
See all sources

Symptoms by clinical synopsis from OMIM:

270970

Clinical features from OMIM:

270970

Drugs & Therapeutics for Spherocytosis, Type 3

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Spherocytosis, Type 3

Drug clinical trials:

Search ClinicalTrials for Spherocytosis, Type 3

Search NIH Clinical Center for Spherocytosis, Type 3

Search CenterWatch for Spherocytosis, Type 3

Genetic Tests for Spherocytosis, Type 3

About this section

Anatomical Context for Spherocytosis, Type 3

About this section

Animal Models for Spherocytosis, Type 3 or affiliated genes

About this section

Publications for Spherocytosis, Type 3

About this section

Variations for Spherocytosis, Type 3

About this section
Sources:
1 National Center for Biotechnology Information (Clinvar)
See all sources

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

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
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

About this section

Compounds for genes affiliated with Spherocytosis, Type 3

About this section

GO Terms for genes affiliated with Spherocytosis, Type 3

About this section

Products for genes affiliated with Spherocytosis, Type 3

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Spherocytosis, Type 3

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet