MCID: HRD012
MIFTS: 42

Hereditary Elliptocytosis malady

Genetic diseases, Rare diseases, Immune diseases, Blood diseases categories

Aliases & Classifications for Hereditary Elliptocytosis

About this section

Aliases & Descriptions for Hereditary Elliptocytosis:

Name: Hereditary Elliptocytosis 10 45 12
Elliptocytosis, Hereditary 65 36
Elliptocytosis Hereditary 47 24
 
Congenital Elliptocytosis 10
Ovalocytosis 10


Classifications:



External Ids:

Disease Ontology10 DOID:2373
MeSH36 D004612
ICD9CM29 282.1
ICD1027 D58.1

Summaries for Hereditary Elliptocytosis

About this section
NIH Rare Diseases:45 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 hereditary spherocytosis. An important gene associated with Hereditary Elliptocytosis is SPTB (Spectrin, Beta, Erythrocytic), and among its related pathways are L1CAM interactions and Interaction between L1 and Ankyrins. Affiliated tissues include spleen, skin and eye, and related mouse phenotypes are liver/biliary system and renal/urinary system.

Disease Ontology:10 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:68 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 Elliptocytosis24

Anatomical Context for Hereditary Elliptocytosis

About this section

MalaCards organs/tissues related to Hereditary Elliptocytosis:

33
Spleen, Skin, Eye

Animal Models for Hereditary Elliptocytosis or affiliated genes

About this section

MGI Mouse Phenotypes related to Hereditary Elliptocytosis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.0ANK1, EPB41, SPTA1, SPTB
2MP:00053678.5ANK1, EPB41, SLC4A1, SPTA1, SPTB
3MP:00053858.0ACSL4, ANK1, SLC4A1, SPTA1, SPTB
4MP:00053977.0ACSL4, ANK1, EPB41, RHD, SLC4A1, SPTA1
5MP:00053766.7ACSL4, ANK1, EPB41, RHD, SLC4A1, SPTA1

Publications for Hereditary Elliptocytosis

About this section

Articles related to Hereditary Elliptocytosis:

(show top 50)    (show all 182)
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
Association of hereditary elliptocytosis and Gilbert's syndrome as the cause of biliary calculosis: case report. (21858981)
2011
5
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
6
Malaria and hereditary elliptocytosis. (17696197)
2008
7
ChAcdiak-Higashi syndrome: an accelerated phase with hereditary elliptocytosis: case report and review of the literature. (17264559)
2001
8
Hereditary elliptocytosis complicating pregnancy. (15512307)
1999
9
Reduced spectrin-ankyrin binding in a South African hereditary elliptocytosis kindred homozygous for spectrin St Claude. (9746802)
1998
10
Coinheritance of alpha-and beta-spectrin gene mutations in a case of hereditary elliptocytosis. (9882098)
1998
11
Red blood cell abnormalities in hereditary elliptocytosis and their relevance to variable clinical expression. (9322591)
1997
12
Expression of spectrin alpha I/65 hereditary elliptocytosis in patients from Brazil. (8790144)
1996
13
Molecular genetics of hereditary elliptocytosis and hereditary spherocytosis. (9037349)
1996
14
Hereditary elliptocytosis associated with spectrin Le Puy in a Japanese family: ultrastructural aspect of the red cell skeleton. (8119389)
1994
15
A deletional frameshift mutation in spectrin beta-gene associated with hereditary elliptocytosis in spectrin Napoli. (7803301)
1994
16
A splice site mutation of alpha-spectrin gene causing skipping of exon 18 in hereditary elliptocytosis. (8490186)
1993
17
Abnormalities of beta spectrin with hereditary elliptocytosis in mother and child]. (1635163)
1992
18
Alpha I/65 hereditary elliptocytosis in southern Italy: evidence for an African origin. (1353056)
1992
19
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
20
Hereditary elliptocytosis due to both qualitative and quantitative defects in membrane skeletal protein 4.1. (1932756)
1991
21
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
22
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
23
A molecular study of heterozygous protein 4.1 deficiency in hereditary elliptocytosis. (3058231)
1988
24
Confirming or ruling out hereditary elliptocytosis. (3124471)
1988
25
Hereditary elliptocytosis, spherocytosis and related disorders: consequences of a deficiency or a mutation of membrane skeletal proteins. (3332099)
1987
26
Molecular determinants of clinical expression of hereditary elliptocytosis and pyropoikilocytosis. (3620700)
1987
27
Abnormal spectrin in hereditary elliptocytosis. (3940543)
1986
28
Homozygous hereditary elliptocytosis with hemolytic anemia. (6719166)
1984
29
A case of hereditary elliptocytosis associated with constitutional indocyanine green excretory defect. (6727059)
1984
30
Defective binding of spectrin to ankyrin in a kindred with recessively inherited hereditary elliptocytosis. (6236232)
1984
31
Hereditary elliptocytosis with a spectrin molecular defect in a white patient. (6426236)
1984
32
Hereditary elliptocytosis being the propositus with skeletal malformations 66 years old. (6636947)
1983
33
Increased heat sensitivity of red blood cells in hereditary elliptocytosis with acquired cobalamin (vitamin B12) deficiency. (7082825)
1982
34
Spectrin beta-chain variant associated with hereditary elliptocytosis. (7119110)
1982
35
Deficiency of skeletal membrane protein band 4.1 in homozygous hereditary elliptocytosis. Implications for erythrocyte membrane stability. (6894932)
1981
36
Defective membrane skeleton assembly in hereditary elliptocytosis. (7330008)
1981
37
Tryptic digestion of spectrin in variants of hereditary elliptocytosis. (7229027)
1981
38
Hereditary elliptocytosis with haemolytic crisis following infection. A case report. (735409)
1978
39
Pyknocytosis in a neonate: an unusual presentation of hereditary elliptocytosis. (830464)
1977
40
Hereditary elliptocytosis associated with pernicious anaemia. (4217073)
1974
41
Combination of hereditary elliptocytosis and hereditary spherocytosis. (4426130)
1974
42
A red cell membrane protein abnormality in hereditary elliptocytosis. (4752708)
1973
43
Hereditary elliptocytosis and Plasmodium falciparum malaria. (4623244)
1972
44
Hereditary elliptocytosis: a report of two families from new guinea. (6018209)
1967
45
Cholelithiasis in the newborn infant in association with congenital toxoplasmosis and hereditary elliptocytosis. (5946658)
1966
46
Case report. Hereditary elliptocytosis with glucose-6-phosphate dehyrogenase deficiency and haemolytic anaemia. (13973269)
1963
47
HEREDITARY ELLIPTOCYTOSIS. (14081107)
1963
48
Compensated and uncompensated hyperhaemolysis in hereditary elliptocytosis. (13690182)
1960
49
Hereditary elliptocytosis and hemoglobin C trait; a report of two cases. (13304517)
1956
50
Hereditary elliptocytosis in a family in Dalecarlia. (14387575)
1955

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 pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.2ANK1, SPTA1, SPTB
29.2ANK1, SPTA1, SPTB

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:003123510.4SPTA1, SPTB
2spectrinGO:00080919.9EPB41, SPTA1, SPTB
3spectrin-associated cytoskeletonGO:00147319.5ANK1, EPB41, SPTA1, SPTB
4cortical cytoskeletonGO:00308638.8EPB41, GYPC, SLC4A1, SPTA1, SPTB
5membraneGO:00160206.9ACSL4, EPB41, GYPC, RHD, SLC4A1, SPTA1

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

idNameGO IDScoreTop Affiliating Genes
1actin filament cappingGO:005169310.1SPTA1, SPTB
2plasma membrane organizationGO:000700910.0SPTA1, SPTB
3porphyrin-containing compound biosynthetic processGO:00067799.9SPTA1, SPTB
4hemopoiesisGO:00300979.8SPTA1, SPTB
5positive regulation of protein bindingGO:00320929.7EPB41, SPTA1

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

idNameGO IDScoreTop Affiliating Genes
1ankyrin bindingGO:003050610.0SLC4A1, SPTB
2spectrin bindingGO:00305079.8ANK1, EPB41
3actin bindingGO:00037799.0EPB41, SLC4A1, SPTB
4structural constituent of cytoskeletonGO:00052008.8ANK1, EPB41, SPTA1, SPTB

Sources for Hereditary Elliptocytosis

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet