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 50 12
Spherocytosis 5 68 25
Hereditary Spherocytosis Type 5 68
 
Sph5 68
Hs5 68

Characteristics:

HPO:

62
spherocytosis, hereditary, type 5:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 612690
MedGen35 C2675192

Summaries for Spherocytosis, Hereditary, Type 5

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UniProtKB/Swiss-Prot:68 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:50 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 spherocytosis11.0

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 hemolytic anemia HP:0001878
2 spherocytosis 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 525

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:

68
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 (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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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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet