MCID: SPH017
MIFTS: 26

Spherocytosis, Type 5

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

Aliases & Classifications for Spherocytosis, Type 5

MalaCards integrated aliases for Spherocytosis, Type 5:

Name: Spherocytosis, Type 5 57 40 73
Hereditary Spherocytosis Type 5 12 75 15
Sph5 57 12 75
Hs5 57 12 75
Spherocytosis Type 5 29 6
Spherocytosis, Hereditary, 5; Hs5 57
Spherocytosis, Hereditary, Type 5 13
Spherocytosis, Hereditary, 5 57
Hereditary Spherocytosis 5 12
Spherocytosis 5 75

Characteristics:

HPO:

32
spherocytosis, type 5:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 612690
Disease Ontology 12 DOID:0110920
MedGen 42 C2675192
SNOMED-CT via HPO 69 258211005 61261009 17235000
UMLS 73 C2675192

Summaries for Spherocytosis, Type 5

UniProtKB/Swiss-Prot : 75 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, Type 5, also known as hereditary spherocytosis type 5, is related to spherocytosis, type 4 and hereditary spherocytosis. An important gene associated with Spherocytosis, Type 5 is EPB42 (Erythrocyte Membrane Protein Band 4.2). Related phenotypes are hemolytic anemia and spherocytosis

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, Type 5

Diseases in the Hereditary Spherocytosis family:

Spherocytosis, Type 1 Spherocytosis, Type 3
Spherocytosis, Type 4 Spherocytosis, Type 5
Spherocytosis, Type 2 Epb42-Related Hereditary Spherocytosis

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

# Related Disease Score Top Affiliating Genes
1 spherocytosis, type 4 9.6 CTCF GATA1
2 hereditary spherocytosis 9.1 CTCF EPB42 GATA1 RPS27A

Symptoms & Phenotypes for Spherocytosis, Type 5

Clinical features from OMIM:

612690

Human phenotypes related to Spherocytosis, Type 5:

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

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with vaccinia virus (VACV) infection GR00362-A 9.1 CCL15 CTCF GATA1 PCDH11X PCDHA1 PCDHAC1

Drugs & Therapeutics for Spherocytosis, Type 5

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

Genetic Tests for Spherocytosis, Type 5

Genetic tests related to Spherocytosis, Type 5:

# Genetic test Affiliating Genes
1 Spherocytosis Type 5 29 EPB42

Anatomical Context for Spherocytosis, Type 5

Publications for Spherocytosis, Type 5

Variations for Spherocytosis, Type 5

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

75
# Symbol AA change Variation ID SNP ID
1 EPB42 p.Ala112Thr VAR_007482 rs104894487
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, Type 5:

6
(show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 EPB42 NM_000119.2(EPB42): c.265delG (p.Val89Trpfs) deletion Pathogenic rs266257354 GRCh37 Chromosome 15, 43508487: 43508487
2 EPB42 NM_000119.2(EPB42): c.265delG (p.Val89Trpfs) deletion Pathogenic rs266257354 GRCh38 Chromosome 15, 43216289: 43216289
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.929G> A (p.Arg310Gln) single nucleotide variant Pathogenic rs121917734 GRCh38 Chromosome 15, 43208769: 43208769
5 EPB42 NM_000119.2(EPB42): c.922+1G> A single nucleotide variant Pathogenic rs266257355 GRCh37 Chromosome 15, 43501471: 43501471
6 EPB42 NM_000119.2(EPB42): c.922+1G> A single nucleotide variant Pathogenic rs266257355 GRCh38 Chromosome 15, 43209273: 43209273
7 EPB42 NM_000119.2(EPB42): c.1747G> T (p.Glu583Ter) single nucleotide variant Pathogenic rs115998465 GRCh37 Chromosome 15, 43495435: 43495435
8 EPB42 NM_000119.2(EPB42): c.1747G> T (p.Glu583Ter) single nucleotide variant Pathogenic rs115998465 GRCh38 Chromosome 15, 43203237: 43203237
9 EPB42 NM_000119.2(EPB42): c.523G> T (p.Asp175Tyr) single nucleotide variant Pathogenic rs143682977 GRCh38 Chromosome 15, 43211532: 43211532
10 EPB42 NM_000119.2(EPB42): c.523G> T (p.Asp175Tyr) single nucleotide variant Pathogenic rs143682977 GRCh37 Chromosome 15, 43503730: 43503730
11 EPB42 NM_000119.2(EPB42): c.920C> T (p.Thr307Ile) single nucleotide variant Pathogenic rs515726211 GRCh38 Chromosome 15, 43209276: 43209276
12 EPB42 NM_000119.2(EPB42): c.920C> T (p.Thr307Ile) single nucleotide variant Pathogenic rs515726211 GRCh37 Chromosome 15, 43501474: 43501474
13 EPB42 NM_000119.2(EPB42): c.949C> T (p.Arg317Cys) single nucleotide variant Pathogenic rs515726212 GRCh38 Chromosome 15, 43208749: 43208749
14 EPB42 NM_000119.2(EPB42): c.949C> T (p.Arg317Cys) single nucleotide variant Pathogenic rs515726212 GRCh37 Chromosome 15, 43500947: 43500947
15 EPB42 NM_000119.2(EPB42): c.950delG (p.Arg317Profs) deletion Pathogenic rs515726213 GRCh38 Chromosome 15, 43208748: 43208748
16 EPB42 NM_000119.2(EPB42): c.950delG (p.Arg317Profs) deletion Pathogenic rs515726213 GRCh37 Chromosome 15, 43500946: 43500946

Expression for Spherocytosis, Type 5

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

Pathways for Spherocytosis, Type 5

GO Terms for Spherocytosis, Type 5

Cellular components related to Spherocytosis, Type 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein-DNA complex GO:0032993 8.62 GATA1 POLR2H

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

# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.56 PCDH11X PCDHA1 PCDHAC1 PCDHAC2
2 nervous system development GO:0007399 9.46 GPSM1 PCDHA1 PCDHAC1 PCDHAC2
3 cellular iron ion homeostasis GO:0006879 9.37 GDF2 RPS27A
4 cell development GO:0048468 9.32 GATA1 GDF2
5 homophilic cell adhesion via plasma membrane adhesion molecules GO:0007156 9.26 PCDH11X PCDHA1 PCDHAC1 PCDHAC2
6 cell-cell signaling GO:0007267 9.02 CCL15 GATA1 PCDHA1 PCDHAC1 PCDHAC2

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

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 8.92 PCDH11X PCDHA1 PCDHAC1 PCDHAC2

Sources for Spherocytosis, Type 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....