MCID: SPH018
MIFTS: 17

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 49 11
Spherocytosis 5 67 24
Hereditary Spherocytosis Type 5 67
 
Spherocytosis, Type 5 65
Sph5 67
Hs5 67

Characteristics:

HPO:

61
spherocytosis, hereditary, type 5:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 612690
MedGen34 C2675192
UMLS65 C2675192

Summaries for Spherocytosis, Hereditary, Type 5

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UniProtKB/Swiss-Prot:67 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 anemiaand spherocytosis. An important gene associated with Spherocytosis, Hereditary, Type 5 is EPB42 (Erythrocyte Membrane Protein Band 4.2). Affiliated tissues include thyroid.

Description from OMIM:49 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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Anatomical Context for Spherocytosis, Hereditary, Type 5

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MalaCards organs/tissues related to Spherocytosis, Hereditary, Type 5:

33
Thyroid

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:

67
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:

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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet