MCID: SPH018
MIFTS: 18

Spherocytosis, Hereditary, Type 5 malady

Genetic diseases, Rare diseases, Immune diseases, Blood diseases, Ear diseases, Bone diseases, Skin diseases, Endocrine diseases categories

Summaries for Spherocytosis, Hereditary, Type 5

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MalaCards based summary: Spherocytosis, Hereditary, Type 5, also known as spherocytosis, type 5, is related to spherocytosis, type 1, and has symptoms including autosomal recessive inheritance, hemolytic anemia and spherocytosis. An important gene associated with Spherocytosis, Hereditary, Type 5 is EPB42 (erythrocyte membrane protein band 4.2).

Description from OMIM:47 612690

Aliases & Classifications for Spherocytosis, Hereditary, Type 5

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Spherocytosis, Hereditary, Type 5, Aliases & Descriptions:

Name: Spherocytosis, Hereditary, Type 5 47 11
 
Spherocytosis, Type 5 47 24


Classifications:



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OMIM47 612690

Related Diseases for Spherocytosis, Hereditary, Type 5

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Diseases in the Hereditary Spherocytosis family:

Spherocytosis, Type 3 Spherocytosis, Type 1
Spherocytosis, Type 4 spherocytosis, hereditary, type 5
Epb42-Related Hereditary Spherocytosis Slc4a1-Related Spherocytosis
Ank1-Related Spherocytosis Spta1-Related Spherocytosis
Epb42-Related Spherocytosis Sptb-Related Spherocytosis

Diseases related to Spherocytosis, Hereditary, Type 5 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1spherocytosis, type 110.2

Symptoms for Spherocytosis, Hereditary, Type 5

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Clinical features from OMIM:

612690

HPO human phenotypes related to Spherocytosis, Hereditary, Type 5:

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, Hereditary, Type 5

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Drug clinical trials:

Search ClinicalTrials for Spherocytosis, Hereditary, Type 5

Search NIH Clinical Center for Spherocytosis, Hereditary, Type 5

Genetic Tests for Spherocytosis, Hereditary, Type 5

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Genetic tests related to Spherocytosis, Hereditary, Type 5:

id Genetic test Affiliating Genes
1 Spherocytosis Type 524

Anatomical Context for Spherocytosis, Hereditary, Type 5

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Animal Models for Spherocytosis, Hereditary, Type 5 or affiliated genes

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Publications for Spherocytosis, Hereditary, Type 5

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Variations for Spherocytosis, Hereditary, Type 5

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UniProtKB/Swiss-Prot genetic disease variations for Spherocytosis, Hereditary, Type 5:

64
id Symbol AA change Variation ID SNP ID
1EPB42p.Ala112ThrVAR_007482rs28933988
2EPB42p.Arg280GlnVAR_012268
3EPB42p.Asp145TyrVAR_058099
4EPB42p.Arg287CysVAR_058100

Clinvar genetic disease variations for Spherocytosis, Hereditary, Type 5:

7 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1EPB42NM_000119.2(EPB42): c.424G> A (p.Ala142Thr)single nucleotide variantPathogenicrs104894487GRCh37Chr 15, 43507389: 43507389
2EPB42NM_000119.2(EPB42): c.265delG (p.Val89Trpfs)deletionPathogenicrs266257354GRCh37Chr 15, 43508487: 43508487
3EPB42NM_000119.2(EPB42): c.929G> A (p.Arg310Gln)single nucleotide variantPathogenicrs121917734GRCh37Chr 15, 43500967: 43500967
4EPB42NM_000119.2(EPB42): c.922+1G> Asingle nucleotide variantPathogenicrs266257355GRCh37Chr 15, 43501471: 43501471
5EPB42NM_000119.2(EPB42): c.1747G> T (p.Glu583Ter)single nucleotide variantPathogenicrs115998465GRCh37Chr 15, 43495435: 43495435
6EPB42NM_000119.2(EPB42): c.523G> T (p.Asp175Tyr)single nucleotide variantPathogenicrs143682977GRCh38Chr 15, 43211532: 43211532
7EPB42NM_000119.2(EPB42): c.920C> T (p.Thr307Ile)single nucleotide variantPathogenicrs515726211GRCh38Chr 15, 43209276: 43209276
8EPB42NM_000119.2(EPB42): c.949C> T (p.Arg317Cys)single nucleotide variantPathogenicrs515726212GRCh38Chr 15, 43208749: 43208749
9EPB42NM_000119.2(EPB42): c.950delG (p.Arg317Profs)deletionPathogenicrs515726213GRCh38Chr 15, 43208748: 43208748
10EPB42NM_000119.2(EPB42): c.1699G> A (p.Ala567Thr)single nucleotide variantPathogenicrs45495503GRCh38Chr 15, 43206339: 43206339
11EPB42NM_000119.2(EPB42): c.286+6T> Asingle nucleotide variantPathogenicrs515726214GRCh38Chr 15, 43216262: 43216262

Expression for genes affiliated with Spherocytosis, Hereditary, Type 5

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Search GEO for disease gene expression data for Spherocytosis, Hereditary, Type 5.

Pathways for genes affiliated with Spherocytosis, Hereditary, Type 5

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Compounds for genes affiliated with Spherocytosis, Hereditary, Type 5

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GO Terms for genes affiliated with Spherocytosis, Hereditary, Type 5

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Products for genes affiliated with Spherocytosis, Hereditary, Type 5

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Spherocytosis, Hereditary, Type 5

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet