MCID: HRD012
MIFTS: 42

Hereditary Elliptocytosis malady

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

Aliases & Classifications for Hereditary Elliptocytosis

About this section

Aliases & Descriptions for Hereditary Elliptocytosis:

Name: Hereditary Elliptocytosis 11 46 13 25
Elliptocytosis, Hereditary 37 66
Congenital Elliptocytosis 11
 
Elliptocytosis Hereditary 48
Ovalocytosis 11

Classifications:



External Ids:

Disease Ontology11 DOID:2373
ICD1028 D58.1
ICD9CM30 282.1
MeSH37 D004612

Summaries for Hereditary Elliptocytosis

About this section
NIH Rare Diseases:46 Hereditary elliptocytosis refers to a group of inherited blood conditions where the red blood cells are abnormally shaped. symptoms can include fatigue, shortness of breath, gallstones, and yellowing of the skin and eyes (jaundice). affected individuals can also have an enlarged spleen. treatment is usually not necessary unless severe anemia occurs. surgery to remove the spleen may decrease the rate of red blood cell damage. last updated: 5/20/2011

MalaCards based summary: Hereditary Elliptocytosis, also known as elliptocytosis, hereditary, is related to pyropoikilocytosis and hepatitis. An important gene associated with Hereditary Elliptocytosis is SPTB (Spectrin Beta, Erythrocytic), and among its related pathways are Interaction between L1 and Ankyrins and L1CAM interactions. Affiliated tissues include spleen, skin and eye, and related mouse phenotypes are liver/biliary system and renal/urinary system.

Disease Ontology:11 A hematopoietic system disease characterized by oval or elliptical red blood cells, slight or absent hemolysis with little or no anemia; splenomegaly is often present.

Wikipedia:69 Hereditary elliptocytosis, also known as ovalocytosis, is an inherited blood disorder in which an... more...

Related Diseases for Hereditary Elliptocytosis

About this section

Graphical network of the top 20 diseases related to Hereditary Elliptocytosis:



Diseases related to hereditary elliptocytosis

Symptoms for Hereditary Elliptocytosis

About this section

Drugs & Therapeutics for Hereditary Elliptocytosis

About this section

Interventional clinical trials:

idNameStatusNCT IDPhase
1A Novel Mutation of the Spectrin GeneCompletedNCT00723567

Search NIH Clinical Center for Hereditary Elliptocytosis


Cochrane evidence based reviews: elliptocytosis, hereditary

Genetic Tests for Hereditary Elliptocytosis

About this section

Genetic tests related to Hereditary Elliptocytosis:

id Genetic test Affiliating Genes
1 Hereditary Elliptocytosis25

Anatomical Context for Hereditary Elliptocytosis

About this section

MalaCards organs/tissues related to Hereditary Elliptocytosis:

34
Spleen, Skin, Eye

Animal Models for Hereditary Elliptocytosis or affiliated genes

About this section

MGI Mouse Phenotypes related to Hereditary Elliptocytosis:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.1ANK1, EPB41, SPTA1, SPTB
2MP:00053678.4ANK1, EPB41, SLC4A1, SPTA1, SPTB
3MP:00053857.9ADD3, ANK1, SLC4A1, SPTA1, SPTB
4MP:00053977.0ADD1, ADD3, ANK1, EPB41, SLC4A1, SPTA1

Publications for Hereditary Elliptocytosis

About this section

Articles related to Hereditary Elliptocytosis:

(show top 50)    (show all 183)
idTitleAuthorsYear
1
Clinical Image: Hereditary Elliptocytosis with Pyropoikilocytosis. (26377499)
2015
2
Hereditary elliptocytosis. (23729040)
2013
3
Comprehensive identification of erythrocyte membrane protein deficiency by 2D gel electrophoresis based proteomic analysis in hereditary elliptocytosis and spherocytosis. (22807418)
2012
4
Nonsense-mediated mRNA decay (NMD) blockage promotes nonsense mRNA stabilization in protein 4.1R deficient cells carrying the 4.1R Coimbra variant of hereditary elliptocytosis. (20863723)
2010
5
Malaria and hereditary elliptocytosis. (17696197)
2008
6
ChAcdiak-Higashi syndrome: an accelerated phase with hereditary elliptocytosis: case report and review of the literature. (17264559)
2001
7
Presumed hereditary elliptocytosis in a dog. (10590790)
1999
8
Reduced spectrin-ankyrin binding in a South African hereditary elliptocytosis kindred homozygous for spectrin St Claude. (9746802)
1998
9
Spectrin self-association site: characterization and study of beta-spectrin mutations associated with hereditary elliptocytosis. (9576854)
1998
10
Red blood cell abnormalities in hereditary elliptocytosis and their relevance to variable clinical expression. (9322591)
1997
11
Expression of spectrin alpha I/65 hereditary elliptocytosis in patients from Brazil. (8790144)
1996
12
Stop codon in exon 30 (E2069X) of beta-spectrin gene associated with hereditary elliptocytosis in spectrin Nagoya. (8956043)
1996
13
A deletional frameshift mutation in spectrin beta-gene associated with hereditary elliptocytosis in spectrin Napoli. (7803301)
1994
14
Identification of three novel spectrin alpha I/74 mutations in hereditary elliptocytosis: further support for a triple-stranded folding unit model of the spectrin heterodimer contact site. (8018926)
1994
15
Alpha I/65 hereditary elliptocytosis in southern Italy: evidence for an African origin. (1353056)
1992
16
Sp alpha V/41: a common spectrin polymorphism at the alpha IV-alpha V domain junction. Relevance to the expression level of hereditary elliptocytosis due to alpha-spectrin variants located in trans. (2040699)
1991
17
A splice site mutation of the beta-spectrin gene causing exon skipping in hereditary elliptocytosis associated with a truncated beta-spectrin chain. (1840591)
1991
18
Molecular defect of truncated beta-spectrin associated with hereditary elliptocytosis. Beta-spectrin Gottingen. (2022662)
1991
19
Sequence and exon-intron organization of the DNA encoding the alpha I domain of human spectrin. Application to the study of mutations causing hereditary elliptocytosis. (2794061)
1989
20
Molecular basis of Sp alpha I/65 hereditary elliptocytosis in North Africa: insertion of a TTG triplet between codons 147 and 149 in the alpha-spectrin gene from five unrelated families. (2567189)
1989
21
Hereditary elliptocytosis in Africa. (2563138)
1989
22
Partial deficiency of protein 4.1 in hereditary elliptocytosis. (3674005)
1987
23
Mutant forms of spectrin alpha-subunits in hereditary elliptocytosis. (3597773)
1987
24
Prenatal diagnosis of hereditary elliptocytosis with molecular defect of spectrin. (3671334)
1987
25
Abnormal spectrin in hereditary elliptocytosis. (3940543)
1986
26
Pathologic and nonpathologic variants of the spectrin molecule in two black families with hereditary elliptocytosis. (4077050)
1985
27
Sp alpha I/65: a new variant of the alpha subunit of spectrin in hereditary elliptocytosis. (4027386)
1985
28
Hereditary elliptocytosis and related disorders. (3886240)
1985
29
The 4.1.(-) hereditary elliptocytosis. (3832803)
1985
30
A molecular defect of spectrin in a subset of patients with hereditary elliptocytosis. Alterations in the alpha-subunit domain involved in spectrin self-association. (6725555)
1984
31
A variant of erythrocyte membrane skeletal protein band 4.1 associated with hereditary elliptocytosis. (6487803)
1984
32
Hereditary elliptocytosis being the propositus with skeletal malformations 66 years old. (6636947)
1983
33
Elliptical erythrocyte membrane skeletons and heat-sensitive spectrin in hereditary elliptocytosis. (6940197)
1981
34
Characteristics of red blood cell survival from subjects with hereditary elliptocytosis. (729313)
1978
35
Hereditary elliptocytosis with hemolytic anaemia (a study of genetic markers). (914761)
1977
36
Study of glycolytic intermediates in hereditary elliptocytosis with thalassemia. (615267)
1977
37
beta+-Thalassaemia, Haemoglobin S and Hereditary elliptocytosis in a Zairian Family. Ischaemic costal necroses in a child with sickle cell beta+-Thalassaemia. (826082)
1976
38
Hereditary elliptocytosis associated with pernicious anaemia. (4217073)
1974
39
Combination of hereditary elliptocytosis and hereditary spherocytosis. (4426130)
1974
40
A red cell membrane protein abnormality in hereditary elliptocytosis. (4752708)
1973
41
Hereditary elliptocytosis (the first report in Thailand) in association with erythrocyte glucose-6-phosphate dehydrogenase deficiency and hemoglobin E. (5506338)
1970
42
Combination of hereditary elliptocytosis and heterozygous beta-thalassaemia: a family study. (5713643)
1968
43
Hereditary elliptocytosis: a report of two families from new guinea. (6018209)
1967
44
Cholelithiasis in the newborn infant in association with congenital toxoplasmosis and hereditary elliptocytosis. (5946658)
1966
45
HEREDITARY ELLIPTOCYTOSIS: GENETIC LINKAGE WITH THE RH CHROMOSOME. (14313534)
1965
46
INCIDENCE, HAEMATOLOGICAL, ENZYMOLOGICAL FINDINGS AND HAEMOLYSIS IN THE HEREDITARY ELLIPTOCYTOSIS. STUDY OF FIFTY FOUR CASES. (14337633)
1965
47
Case report. Hereditary elliptocytosis with glucose-6-phosphate dehyrogenase deficiency and haemolytic anaemia. (13973269)
1963
48
HEREDITARY ELLIPTOCYTOSIS. (14081107)
1963
49
Hereditary elliptocytosis in two Maltese families. (13708126)
1961
50
Hereditary elliptocytosis and hemoglobin C trait; a report of two cases. (13304517)
1956

Variations for Hereditary Elliptocytosis

About this section

Expression for genes affiliated with Hereditary Elliptocytosis

About this section
Search GEO for disease gene expression data for Hereditary Elliptocytosis.

Pathways for genes affiliated with Hereditary Elliptocytosis

About this section

Pathways related to Hereditary Elliptocytosis according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.2ANK1, SPTA1, SPTB
2
Show member pathways
9.2ANK1, SPTA1, SPTB
39.0ADD1, ADD3

GO Terms for genes affiliated with Hereditary Elliptocytosis

About this section

Cellular components related to Hereditary Elliptocytosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1intrinsic component of the cytoplasmic side of the plasma membraneGO:00312359.8MIR7855, SPTA1, SPTB
2cortical cytoskeletonGO:00308639.8EPB41, SLC4A1, SPTA1
3actin cytoskeletonGO:00156299.8MIR7855, SPTA1, SPTB
4spectrinGO:00080919.6EPB41, MIR7855, SPTA1, SPTB
5protein complexGO:00432349.5EPB41, MIR7855, SPTB
6cytoskeletonGO:00058568.9ADD1, ADD3, ANK1
7spectrin-associated cytoskeletonGO:00147318.9ANK1, EPB41, MIR7855, SPTA1, SPTB
8membraneGO:00160207.8ADD1, ADD3, EPB41, SLC4A1, SPTA1
9cytosolGO:00058297.4ADD1, ADD3, ANK1, MIR7855, SPTA1, SPTB

Biological processes related to Hereditary Elliptocytosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1actin filament cappingGO:00516939.5MIR7855, SPTA1, SPTB
2axon guidanceGO:00074119.2MIR7855, SPTA1, SPTB
3positive regulation of protein bindingGO:00320929.2ADD1, EPB41, SPTA1
4actin cytoskeleton organizationGO:00300369.0ADD1, EPB41, SPTA1
5ER to Golgi vesicle-mediated transportGO:00068889.0ANK1, MIR7855, SPTA1, SPTB
6cytoskeleton organizationGO:00070108.7ADD3, ANK1, SPTB

Molecular functions related to Hereditary Elliptocytosis according to GeneCards Suite gene sharing:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1ankyrin bindingGO:00305069.7MIR7855, SLC4A1, SPTB
2Ras guanyl-nucleotide exchange factor activityGO:00050889.4MIR7855, SPTA1, SPTB
3calmodulin bindingGO:00055168.9ADD1, ADD3, EPB41
4spectrin bindingGO:00305078.9ADD1, ANK1, EPB41
5structural molecule activityGO:00051988.8ADD1, ADD3, ANK1
6actin filament bindingGO:00510158.7ADD1, MIR7855, SPTA1, SPTB
7structural constituent of cytoskeletonGO:00052007.6ADD3, ANK1, EPB41, MIR7855, SPTA1, SPTB
8actin bindingGO:00037797.3ADD1, ADD3, EPB41, MIR7855, SLC4A1, SPTB

Sources for Hereditary Elliptocytosis

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet