MCID: EPB003
MIFTS: 10

Epb42-Related Hereditary Spherocytosis

Aliases & Classifications for Epb42-Related Hereditary Spherocytosis

MalaCards integrated aliases for Epb42-Related Hereditary Spherocytosis:

Name: Epb42-Related Hereditary Spherocytosis 24
Epb42-Related Hereditary Spherocytosi 29

Summaries for Epb42-Related Hereditary Spherocytosis

MalaCards based summary : Epb42-Related Hereditary Spherocytosis, also known as epb42-related hereditary spherocytosi, is related to spherocytosis, type 5 and cholelithiasis. An important gene associated with Epb42-Related Hereditary Spherocytosis is EPB42 (Erythrocyte Membrane Protein Band 4.2).

GeneReviews: NBK190102

Related Diseases for Epb42-Related Hereditary Spherocytosis

Diseases related to Epb42-Related Hereditary Spherocytosis via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 spherocytosis, type 5 10.3
2 cholelithiasis 10.3
3 hemosiderosis 10.3
4 hereditary spherocytosis 10.3
5 iron metabolism disease 10.3
6 bilirubin metabolic disorder 10.3
7 hemolytic anemia 10.3
8 splenomegaly 10.3
9 rare hereditary hemochromatosis 10.3

Graphical network of the top 20 diseases related to Epb42-Related Hereditary Spherocytosis:



Diseases related to Epb42-Related Hereditary Spherocytosis

Symptoms & Phenotypes for Epb42-Related Hereditary Spherocytosis

Drugs & Therapeutics for Epb42-Related Hereditary Spherocytosis

Search Clinical Trials , NIH Clinical Center for Epb42-Related Hereditary Spherocytosis

Genetic Tests for Epb42-Related Hereditary Spherocytosis

Genetic tests related to Epb42-Related Hereditary Spherocytosis:

# Genetic test Affiliating Genes
1 Epb42-Related Hereditary Spherocytosi 29

Anatomical Context for Epb42-Related Hereditary Spherocytosis

Publications for Epb42-Related Hereditary Spherocytosis

Articles related to Epb42-Related Hereditary Spherocytosis:

(show all 38)
# Title Authors PMID Year
1
Clinical outcomes of splenectomy in children: report of the splenectomy in congenital hemolytic anemia registry. 4
25382665 2015
2
Synchronous splenectomy during cholecystectomy for hereditary spherocytosis: is it really necessary? 4
24650472 2014
3
Prevention and control of meningococcal disease: recommendations of the Advisory Committee on Immunization Practices (ACIP). 4
23515099 2013
4
Cross-talk between available guidelines for the management of patients with beta-thalassemia major. 4
23485589 2013
5
Comparative effectiveness of different types of splenectomy for children with congenital hemolytic anemias. 4
22050869 2012
6
Guidelines for the diagnosis and management of hereditary spherocytosis--2011 update. 4
22055020 2012
7
Meningococcal conjugate vaccines policy update: booster dose recommendations. 4
22123893 2011
8
Splenectomy for hereditary spherocytosis: complete, partial or not at all? 4
22077527 2011
9
Compound heterozygosity for two novel mutations in the erythrocyte protein 4.2 gene causing spherocytosis in a Caucasian patient. 4
21275958 2011
10
Prevention of pneumococcal disease among infants and children - use of 13-valent pneumococcal conjugate vaccine and 23-valent pneumococcal polysaccharide vaccine - recommendations of the Advisory Committee on Immunization Practices (ACIP). 4
21150868 2010
11
Investigating the key membrane protein changes during in vitro erythropoiesis of protein 4.2 (-) cells (mutations Chartres 1 and 2). 4
20179084 2010
12
Protein 4.2 binds to the carboxyl-terminal EF-hands of erythroid alpha-spectrin in a calcium- and calmodulin-dependent manner. 4
20007969 2010
13
Protein 4.2: a complex linker. 4
19269200 2009
14
Hereditary spherocytosis. 4
18940465 2008
15
Band 3 Courcouronnes (Ser667Phe): a trafficking mutant differentially rescued by wild-type band 3 and glycophorin A. 4
18174378 2008
16
Mutations of different molecular origins exhibit contrasting patterns of regional substitution rate variation. 4
18463707 2008
17
Associations of protein 4.2 with band 3 and ankyrin. 4
16718373 2006
18
Protein-4.2 association with band 3 (AE1, SLCA4) in Xenopus oocytes: effects of three natural protein-4.2 mutations associated with hemolytic anemia. 4
15692067 2005
19
Hereditary spherocytosis--defects in proteins that connect the membrane skeleton to the lipid bilayer. 4
15071790 2004
20
A band 3-based macrocomplex of integral and peripheral proteins in the RBC membrane. 4
12531814 2003
21
Mapping of a spectrin-binding domain of human erythrocyte membrane protein 4.2. 4
12049649 2002
22
Long-term evaluation of the beneficial effect of subtotal splenectomy for management of hereditary spherocytosis. 4
11154215 2001
23
Characteristic features of the genotype and phenotype of hereditary spherocytosis in the Japanese population. 4
10745622 2000
24
Heavy transfusions and presence of an anti-protein 4.2 antibody in 4. 2(-) hereditary spherocytosis (949delG). 4
10629586 2000
25
4.2 Nippon mutation in a non-Japanese patient with hereditary spherocytosis. 4
10406914 1999
26
Hereditary spherocytosis: from clinical to molecular defects. 4
9573679 1998
27
Total absence of protein 4.2 and partial deficiency of band 3 in hereditary spherocytosis. 4
9401060 1997
28
Increased rotational mobility and extractability of band 3 from protein 4.2-deficient erythrocyte membranes: evidence of a role for protein 4.2 in strengthening the band 3-cytoskeleton linkage. 4
8839871 1996
29
Band 4.2 Komatsu: 523 GAT-->TAT (175 Asp-->Tyr) in exon 4 of the band 4.2 gene associated with total deficiency of band 4.2, hemolytic anemia with ovalostomatocytosis and marked disruption of the cytoskeletal network. 4
8547605 1995
30
A deletional frameshift mutation in protein 4.2 gene (allele 4.2 Lisboa) associated with hereditary hemolytic anemia. 4
7803799 1995
31
A novel mutation in the erythrocyte protein 4.2 gene of Japanese patients with hereditary spherocytosis (protein 4.2 Fukuoka). 4
7819064 1994
32
Red cell membrane protein band 4.2: phenotypic, genetic and electron microscopic aspects. 4
8142452 1994
33
Pregnancy and hereditary spherocytosis. Report of 8 patients and a review. 4
8328819 1993
34
An alanine-to-threonine substitution in protein 4.2 cDNA is associated with a Japanese form of hereditary hemolytic anemia (protein 4.2NIPPON). 4
1558976 1992
35
Modulation of erythrocyte membrane mechanical stability by 2,3-diphosphoglycerate in the neonatal poikilocytosis/elliptocytosis syndrome. 4
3818955 1987
36
Osmotic gradient ektacytometry: comprehensive characterization of red cell volume and surface maintenance. 4
6831052 1983
37
A technique to detect reduced mechanical stability of red cell membranes: relevance to elliptocytic disorders. 4
7059678 1982
38
EPB42-Related Hereditary Spherocytosis 38
24624460 2014

Variations for Epb42-Related Hereditary Spherocytosis

Expression for Epb42-Related Hereditary Spherocytosis

Search GEO for disease gene expression data for Epb42-Related Hereditary Spherocytosis.

Pathways for Epb42-Related Hereditary Spherocytosis

GO Terms for Epb42-Related Hereditary Spherocytosis

Sources for Epb42-Related Hereditary Spherocytosis

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