MCID: SPH018

Spherocytosis, Hereditary, Type 5 malady

Genetic diseases, Rare diseases, Immune diseases, Blood diseases categories
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Summaries for Spherocytosis, Hereditary, Type 5

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MalaCards based summary: Spherocytosis, Hereditary, Type 5 and has symptoms including An important gene associated with Spherocytosis, Hereditary, Type 5 is EPB42 (erythrocyte membrane protein band 4.2).

Description from OMIM:46 612690

Aliases & Classifications for Spherocytosis, Hereditary, Type 5

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Spherocytosis, Hereditary, Type 5, Aliases & Descriptions:

Name: Spherocytosis, Hereditary, Type 5 46


Classifications:

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


Related Diseases for Spherocytosis, Hereditary, Type 5

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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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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:

6 (show all 11)
id Gene Name 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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Expression patterns in normal tissues for genes affiliated with Spherocytosis, Hereditary, Type 5

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

Sources for Spherocytosis, Hereditary, Type 5

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet