MCID: SPH018
MIFTS: 19

Spherocytosis, Hereditary, Type 5 malady

Categories: Genetic diseases, Rare diseases, Immune diseases, Blood diseases

Aliases & Classifications for Spherocytosis, Hereditary, Type 5

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Aliases & Descriptions for Spherocytosis, Hereditary, Type 5:

Name: Spherocytosis, Hereditary, Type 5 52 12
Spherocytosis 5 70 27
Hereditary Spherocytosis Type 5 70
 
Spherocytosis, Type 5 68
Sph5 70
Hs5 70

Characteristics:

HPO:

64
spherocytosis, hereditary, type 5:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 612690
MedGen37 C2675192

Summaries for Spherocytosis, Hereditary, Type 5

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UniProtKB/Swiss-Prot:70 Spherocytosis 5: Spherocytosis is a hematologic disorder leading to chronic hemolytic anemia and characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. Absence of band 4.2 associated with spur or target erythrocytes has also been reported.

MalaCards based summary: Spherocytosis, Hereditary, Type 5, also known as spherocytosis 5, is related to epb42-related spherocytosis, and has symptoms including hemolytic anemia and spherocytosis. An important gene associated with Spherocytosis, Hereditary, Type 5 is EPB42 (Erythrocyte Membrane Protein Band 4.2).

Description from OMIM:52 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, hereditary, type 5 Spherocytosis, Type 4
Epb42-Related Hereditary Spherocytosis Ank1-Related Spherocytosis
Epb42-Related Spherocytosis Slc4a1-Related Spherocytosis
Spta1-Related Spherocytosis Sptb-Related Spherocytosis

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

idRelated DiseaseScoreTop Affiliating Genes
1epb42-related spherocytosis10.8

Symptoms & Phenotypes for Spherocytosis, Hereditary, Type 5

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Clinical features from OMIM:

612690

Human phenotypes related to Spherocytosis, Hereditary, Type 5:

 64
id Description HPO Frequency HPO Source Accession
1 hemolytic anemia64 HP:0001878
2 spherocytosis64 HP:0004444

Drugs & Therapeutics for Spherocytosis, Hereditary, Type 5

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Interventional clinical trials:

Search ClinicalTrials, 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 527

Anatomical Context for Spherocytosis, Hereditary, Type 5

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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:

70
id Symbol AA change Variation ID SNP ID
1EPB42p.Ala112ThrVAR_007482rs28933988
2EPB42p.Arg280GlnVAR_012268rs121917734
3EPB42p.Asp145TyrVAR_058099rs143682977
4EPB42p.Arg287CysVAR_058100rs515726212

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1EPB42NM_000119.2(EPB42): c.424G> A (p.Ala142Thr)SNVPathogenicrs104894487GRCh37Chr 15, 43507389: 43507389
2EPB42NM_000119.2(EPB42): c.265delG (p.Val89Trpfs)deletionPathogenicrs266257354GRCh37Chr 15, 43508487: 43508487
3EPB42NM_000119.2(EPB42): c.929G> A (p.Arg310Gln)SNVPathogenicrs121917734GRCh37Chr 15, 43500967: 43500967
4EPB42NM_000119.2(EPB42): c.922+1G> ASNVPathogenicrs266257355GRCh37Chr 15, 43501471: 43501471
5EPB42NM_000119.2(EPB42): c.1747G> T (p.Glu583Ter)SNVPathogenicrs115998465GRCh38Chr 15, 43203237: 43203237
6EPB42NM_000119.2(EPB42): c.523G> T (p.Asp175Tyr)SNVPathogenicrs143682977GRCh38Chr 15, 43211532: 43211532
7EPB42NM_000119.2(EPB42): c.920C> T (p.Thr307Ile)SNVPathogenicrs515726211GRCh38Chr 15, 43209276: 43209276
8EPB42NM_000119.2(EPB42): c.949C> T (p.Arg317Cys)SNVPathogenicrs515726212GRCh38Chr 15, 43208749: 43208749
9EPB42NM_000119.2(EPB42): c.950delG (p.Arg317Profs)deletionPathogenicrs515726213GRCh38Chr 15, 43208748: 43208748

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

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Sources for Spherocytosis, Hereditary, Type 5

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet