SPH5
MCID: SPH018
MIFTS: 29

Spherocytosis, Hereditary, Type 5 (SPH5) malady

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

Aliases & Classifications for Spherocytosis, Hereditary, Type 5

Aliases & Descriptions for Spherocytosis, Hereditary, Type 5:

Name: Spherocytosis, Hereditary, Type 5 54 13
Hereditary Spherocytosis Type 5 12 66 14
Spherocytosis 5 66 29
Sph5 12 66
Hs5 12 66
Hereditary Spherocytosis 5 12
Spherocytosis, Type 5 69

Characteristics:

HPO:

32
spherocytosis, hereditary, type 5:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 612690
Disease Ontology 12 DOID:0110920
MedGen 40 C2675192

Summaries for Spherocytosis, Hereditary, Type 5

UniProtKB/Swiss-Prot : 66 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 hereditary spherocytosis type 5, is related to epb42-related spherocytosis and renal tubular acidosis, distal, ar, 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), and among its related pathways/superpathways is Cytosolic sensors of pathogen-associated DNA. Related phenotype is Synthetic lethal with vaccinia virus (VACV) infection.

Disease Ontology : 12 A hereditary spherocytosis that has material basis in a mutation of EPB42 on chromosome 15q15.2.

Description from OMIM: 612690

Related Diseases for Spherocytosis, Hereditary, Type 5

Symptoms & Phenotypes for Spherocytosis, Hereditary, Type 5

Clinical features from OMIM:

612690

Human phenotypes related to Spherocytosis, Hereditary, Type 5:

32
id Description HPO Frequency HPO Source Accession
1 hemolytic anemia 32 HP:0001878
2 spherocytosis 32 HP:0004444

GenomeRNAi Phenotypes related to Spherocytosis, Hereditary, Type 5 according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with vaccinia virus (VACV) infection GR00362-A 9.02 CCL15 CTCF GATA1 PCDH11X PCDHAC1

Drugs & Therapeutics for Spherocytosis, Hereditary, Type 5

Search Clinical Trials , NIH Clinical Center for Spherocytosis, Hereditary, Type 5

Genetic Tests for Spherocytosis, Hereditary, Type 5

Genetic tests related to Spherocytosis, Hereditary, Type 5:

id Genetic test Affiliating Genes
1 Spherocytosis Type 5 29

Anatomical Context for Spherocytosis, Hereditary, Type 5

Publications for Spherocytosis, Hereditary, Type 5

Variations for Spherocytosis, Hereditary, Type 5

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

66
id Symbol AA change Variation ID SNP ID
1 EPB42 p.Ala112Thr VAR_007482 rs28933988
2 EPB42 p.Arg280Gln VAR_012268 rs121917734
3 EPB42 p.Asp145Tyr VAR_058099 rs143682977
4 EPB42 p.Arg287Cys VAR_058100 rs515726212

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 EPB42 NM_000119.2(EPB42): c.424G> A (p.Ala142Thr) single nucleotide variant Pathogenic rs104894487 GRCh37 Chromosome 15, 43507389: 43507389
2 EPB42 NM_000119.2(EPB42): c.265delG (p.Val89Trpfs) deletion Pathogenic rs266257354 GRCh37 Chromosome 15, 43508487: 43508487
3 EPB42 NM_000119.2(EPB42): c.929G> A (p.Arg310Gln) single nucleotide variant Pathogenic rs121917734 GRCh37 Chromosome 15, 43500967: 43500967
4 EPB42 NM_000119.2(EPB42): c.922+1G> A single nucleotide variant Pathogenic rs266257355 GRCh37 Chromosome 15, 43501471: 43501471
5 EPB42 NM_000119.2(EPB42): c.1747G> T (p.Glu583Ter) single nucleotide variant Pathogenic rs115998465 GRCh37 Chromosome 15, 43495435: 43495435
6 EPB42 NM_000119.2(EPB42): c.523G> T (p.Asp175Tyr) single nucleotide variant Pathogenic rs143682977 GRCh38 Chromosome 15, 43211532: 43211532
7 EPB42 NM_000119.2(EPB42): c.920C> T (p.Thr307Ile) single nucleotide variant Pathogenic rs515726211 GRCh38 Chromosome 15, 43209276: 43209276
8 EPB42 NM_000119.2(EPB42): c.949C> T (p.Arg317Cys) single nucleotide variant Pathogenic rs515726212 GRCh38 Chromosome 15, 43208749: 43208749
9 EPB42 NM_000119.2(EPB42): c.950delG (p.Arg317Profs) deletion Pathogenic rs515726213 GRCh38 Chromosome 15, 43208748: 43208748

Expression for Spherocytosis, Hereditary, Type 5

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

GO Terms for Spherocytosis, Hereditary, Type 5

Biological processes related to Spherocytosis, Hereditary, Type 5 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cellular iron ion homeostasis GO:0006879 9.32 GDF2 RPS27A
2 positive regulation of type I interferon production GO:0032481 9.26 POLR2H POLR3K
3 cell development GO:0048468 9.16 GATA1 GDF2
4 homophilic cell adhesion via plasma membrane adhesion molecules GO:0007156 9.13 PCDH11X PCDHAC1 PCDHAC2
5 cell-cell signaling GO:0007267 8.92 CCL15 GATA1 PCDHAC1 PCDHAC2

Molecular functions related to Spherocytosis, Hereditary, Type 5 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 DNA-directed 5-3 RNA polymerase activity GO:0003899 8.62 POLR2H POLR3K

Sources for Spherocytosis, Hereditary, Type 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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