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HE
MCID: HRD012
MIFTS: 51

Hereditary Elliptocytosis (HE)

Categories: Blood diseases, Genetic diseases, Immune diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Hereditary Elliptocytosis

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MalaCards integrated aliases for Hereditary Elliptocytosis:

Name: Hereditary Elliptocytosis 12 74 52 58 36 29 6 15 32
Elliptocytosis, Hereditary 43 71
Congenital Elliptocytosis 12
Elliptocytosis Hereditary 54
Ovalocytosis 12
He 58

Characteristics:

Orphanet epidemiological data:

58
hereditary elliptocytosis
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-5/10000 (Worldwide); Age of onset: All ages; Age of death: normal life expectancy;

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Immune diseases Blood diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:2373
KEGG 36 H00231
ICD9CM 34 282.1
MeSH 43 D004612
NCIt 49 C35882
SNOMED-CT 67 191169008
ICD10 32 D58.1
MESH via Orphanet 44 D004612
ICD10 via Orphanet 33 D58.1
UMLS via Orphanet 72 C0013902
Orphanet 58 ORPHA288
UMLS 71 C0013902
Sources

Summaries for Hereditary Elliptocytosis

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NIH Rare Diseases : 52 Hereditary elliptocytosis (HE) refers to a group of inherited blood conditions where the red blood cells are abnormally shaped . Symptoms vary from very mild to severe and can include fatigue, shortness of breath, gallstones , and yellowing of the skin and eyes (jaundice ). Some people with this condition have an enlarged spleen . Hereditary elliptocytosis is caused by a genetic change in either the EPB41 , SPTA1 , or SPTB gene , and is inherited in an autosomal dominant pattern. Hereditary pyropoikilocytosis is a related condition with more serious symptoms, and is inherited in an autosomal recessive pattern. Diagnosis of this condition is made by looking at the shape of the red blood cells under a microscope. Treatment is usually not necessary unless severe anemia occurs. In severe cases, surgery to remove the spleen may decrease the rate of red blood cell damage. HE is generally not life-threatening.

MalaCards based summary : Hereditary Elliptocytosis, also known as elliptocytosis, hereditary, is related to pyropoikilocytosis, hereditary and thalassemia. An important gene associated with Hereditary Elliptocytosis is EPB41 (Erythrocyte Membrane Protein Band 4.1), and among its related pathways/superpathways are L1CAM interactions and Miscellaneous transport and binding events. The drugs Iron and Vitamin A have been mentioned in the context of this disorder. Affiliated tissues include spleen, eye and skin, and related phenotypes are elliptocytosis and increased red cell osmotic fragility

Disease Ontology : 12 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.

KEGG : 36 Hereditary elliptocytosis (HE) is an autosomal dominant hematologic disorder characterized by elliptically shaped erythrocytes and a variable degree of hemolytic anemia caused by fragility of the erythrocyte membrane skeleton due to defects in alpha-spectrin, beta-spectrin, or protein 4.1.

Wikipedia : 74 Hereditary elliptocytosis, also known as ovalocytosis, is an inherited blood disorder in which an... more...

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Related Diseases for Hereditary Elliptocytosis

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Diseases in the Hereditary Elliptocytosis family:

Elliptocytosis 2 Elliptocytosis 1
Elliptocytosis 3

Diseases related to Hereditary Elliptocytosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 91)
# Related Disease Score Top Affiliating Genes
1 pyropoikilocytosis, hereditary 33.1 SPTB SPTA1
2 thalassemia 31.1 SLC4A1 HBE1 G6PD
3 hemolytic anemia 30.8 SPTB SPTA1 SLC4A1 RHD G6PD EPB42
4 beta-thalassemia 30.7 SPTB SLC4A1 RHD HBE1 G6PD
5 hereditary stomatocytosis 30.7 SLC4A1 ADD2 ADD1
6 blood group incompatibility 30.6 SLC4A1 RHD G6PD
7 neonatal jaundice 30.5 SPTA1 RHD G6PD
8 neonatal anemia 30.4 SPTB RHD
9 malaria 30.2 SPTB SLC4A1 RHD HBE1 GYPC GYPA
10 congenital hemolytic anemia 29.6 SPTB SPTA1 SLC4A1 HBE1 GYPA G6PD
11 hereditary spherocytosis 29.6 SPTB SPTA1 SLC4A1 RHD OSGEP HBE1
12 ovalocytosis, hereditary hemolytic, with defective erythropoiesis 12.4
13 ovalocytosis, southeast asian 12.3
14 elliptocytosis 3 11.8
15 elliptocytosis 2 11.7
16 elliptocytosis 1 11.7
17 blood group, gerbich system 11.6
18 renal tubular acidosis, distal, autosomal dominant 11.3
19 hemoglobinopathy 10.8
20 epileptic encephalopathy, early infantile, 5 10.4 SPTB SPTAN1
21 glutamate-cysteine ligase deficiency 10.4 SPTB SPTA1 SLC4A1 ANK1
22 diffuse idiopathic skeletal hyperostosis 10.4 ADD3 ADD2 ADD1
23 actinomycosis 10.4 ADD3 ADD2 ADD1
24 spinocerebellar ataxia 5 10.4 SPTB SPTAN1 EPB41 ANK1
25 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 10.4
26 kernicterus 10.4 SLC4A1 RHD G6PD
27 rh isoimmunization 10.4 RHD G6PD
28 meningococcal infection 10.4 G6PD ADD1
29 retinohepatoendocrinologic syndrome 10.4 RHD GYPA CD47
30 fetal erythroblastosis 10.4 RHD GYPC GYPA
31 deficiency anemia 10.3
32 splenomegaly 10.3
33 otopalatodigital syndrome spectrum disorder 10.3 SLC4A1 RHD GYPA
34 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema 10.3 SLC4A1 EPB42 EPB41
35 melnick-needles syndrome 10.3 SLC4A1 RHD GYPA
36 hypereosinophilic syndrome 10.3
37 bilirubin metabolic disorder 10.2
38 rare hemolytic anemia 10.2
39 hemoglobin d disease 10.2 HBE1 GYPA
40 metabolic acidosis 10.2
41 hypokalemia 10.2
42 pfeiffer syndrome 10.1
43 autoimmune lymphoproliferative syndrome 10.1
44 helix syndrome 10.1
45 cholelithiasis 10.1
46 renal tubular acidosis 10.1
47 nephrocalcinosis 10.1 SPTA1 SLC4A1 OSGEP
48 spherocytosis, type 2 10.1 SPTB SPTA1
49 endosteal hyperostosis, autosomal dominant 10.0
50 cryohydrocytosis 10.0

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



Diseases related to Hereditary Elliptocytosis
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Symptoms & Phenotypes for Hereditary Elliptocytosis

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Human phenotypes related to Hereditary Elliptocytosis:

58 31 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 elliptocytosis 58 31 frequent (33%) Frequent (79-30%) HP:0004445
2 increased red cell osmotic fragility 58 31 frequent (33%) Frequent (79-30%) HP:0005502
3 splenomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001744
4 reticulocytosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001923
5 prolonged neonatal jaundice 58 31 occasional (7.5%) Occasional (29-5%) HP:0006579
6 stomatocytosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0004446
7 neonatal hyperbilirubinemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003265
8 congenital hemolytic anemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0004804
9 fever 58 31 very rare (1%) Very rare (<4-1%) HP:0001945
10 frontal bossing 58 31 very rare (1%) Very rare (<4-1%) HP:0002007
11 hydrops fetalis 58 31 very rare (1%) Very rare (<4-1%) HP:0001789
12 abdominal pain 58 31 very rare (1%) Very rare (<4-1%) HP:0002027
13 postnatal growth retardation 58 31 very rare (1%) Very rare (<4-1%) HP:0008897
14 cholelithiasis 58 31 very rare (1%) Very rare (<4-1%) HP:0001081
15 chills 58 31 very rare (1%) Very rare (<4-1%) HP:0025143
16 jaundice 58 Occasional (29-5%)
17 hemolytic anemia 58 Occasional (29-5%)
18 hyperbilirubinemia 58 Occasional (29-5%)
19 abnormal erythrocyte morphology 58 Obligate (100%)
20 poikilocytosis 58 Occasional (29-5%)

GenomeRNAi Phenotypes related to Hereditary Elliptocytosis according to GeneCards Suite gene sharing:

26 (show all 21)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-100 10.11 OSGEP
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-105 10.11 HBE1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-121 10.11 OSGEP
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-123 10.11 OSGEP
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-146 10.11 SPTAN1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-147 10.11 OSGEP
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-149 10.11 SPTAN1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-161 10.11 OSGEP
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-191 10.11 OSGEP
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 10.11 HBE1 OSGEP
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-207 10.11 HBE1
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-63 10.11 OSGEP
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-64 10.11 SPTAN1
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 10.11 HBE1
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-73 10.11 HBE1
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-79 10.11 HBE1
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-9 10.11 SPTAN1
18 Decreased viability GR00249-S 9.91 ADD2 CD47 CD5L COL4A5 G6PD GYPC
19 Decreased viability GR00386-A-1 9.91 ADD1 G6PD GYPA RHD SPTA1
20 Decreased viability GR00402-S-2 9.91 ANK1 CD47 EPB42 G6PD GYPC OSGEP
21 Increased shRNA abundance GR00327-A 8.92 ACSL4 ADD1 ADD3 G6PD

MGI Mouse Phenotypes related to Hereditary Elliptocytosis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.16 ACSL4 ADD1 ADD2 ADD3 ANK1 CD47
2 cardiovascular system MP:0005385 10.06 ACSL4 ADD2 ADD3 ANK1 CD47 COL4A5
3 homeostasis/metabolism MP:0005376 10 ACSL4 ADD1 ADD2 ANK1 CD47 COL4A5
4 immune system MP:0005387 9.65 ADD2 ANK1 CD47 CD5L COL4A5 EPB41
5 renal/urinary system MP:0005367 9.17 ADD2 ANK1 COL4A5 EPB41 SLC4A1 SPTA1
Sources

Drugs & Therapeutics for Hereditary Elliptocytosis

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Drugs for Hereditary Elliptocytosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved, Experimental 15438-31-0, 7439-89-6 27284 23925
2
Vitamin A Approved, Nutraceutical, Vet_approved 22737-96-8, 68-26-8, 11103-57-4 9904001 445354
3 Trace Elements
4 Vitamins
5 Retinol palmitate
6 retinol
7 Nutrients
8 Micronutrients

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Gall Bladder Status Among Children With Chronic Haemolytic Anemia Attending to Assuit University Children Hospital Unknown status NCT03533322
2 Case Report: A Novel Mutation of the Spectrin Gene in a Family of Northern European Descent Is Associated With Three Different Phenotypes Completed NCT00723567
3 Effects of Vitamin A Supplementation on Intestinal Parasitic Reinfections, Growth, Iron Status and Educational Achievement Among Orang Asli Schoolchildren in Pos Betau, Pahang, Malaysia Completed NCT00936091 vitamin A supplements;Placebo

Search NIH Clinical Center for Hereditary Elliptocytosis

Cochrane evidence based reviews: elliptocytosis, hereditary

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Genetic Tests for Hereditary Elliptocytosis

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Genetic tests related to Hereditary Elliptocytosis:

# Genetic test Affiliating Genes
1 Hereditary Elliptocytosis 29
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Anatomical Context for Hereditary Elliptocytosis

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MalaCards organs/tissues related to Hereditary Elliptocytosis:

40
Spleen, Eye, Skin, Testes, Heart, Kidney, Myeloid
Sources

Publications for Hereditary Elliptocytosis

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Articles related to Hereditary Elliptocytosis:

(show top 50) (show all 419)
# Title Authors PMID Year
1
Protein 4.1 Lille, a novel mutation in the downstream initiation codon of protein 4.1 gene associated with heterozygous 4,1(-) hereditary elliptocytosis. 6 61
7627190 1995
2
A novel mobile element inserted in the alpha spectrin gene: spectrin dayton. A truncated alpha spectrin associated with hereditary elliptocytosis. 61 6
8040317 1994
3
A splice site mutation of alpha-spectrin gene causing skipping of exon 18 in hereditary elliptocytosis. 61 6
8490186 1993
4
An alpha-spectrin mutation responsible for hereditary elliptocytosis associated in cis with the alpha v/41 polymorphism. 6 61
8444470 1993
5
Severe poikilocytosis associated with a de novo alpha 28 Arg-->Cys mutation in spectrin. 61 6
8435324 1993
6
An isoform-specific mutation in the protein 4.1 gene results in hereditary elliptocytosis and complete deficiency of protein 4.1 in erythrocytes but not in nonerythroid cells. 6 61
8423235 1993
7
Homozygous 4.1(-) hereditary elliptocytosis associated with a point mutation in the downstream initiation codon of protein 4.1 gene. 6 61
1430200 1992
8
Fast screening methods to detect mutations of spectrin in subjects with hereditary elliptocytosis. 61 6
1642244 1992
9
A common type of the spectrin alpha I 46-50a-kD peptide abnormality in hereditary elliptocytosis and pyropoikilocytosis is associated with a mutation distant from the proteolytic cleavage site. Evidence for the functional importance of the triple helical model of spectrin. 6 61
1541680 1992
10
Molecular analysis of insertion/deletion mutations in protein 4.1 in elliptocytosis. II. Determination of molecular genetic origins of rearrangements. 6 61
2384598 1990
11
Hereditary pyropoikilocytosis and elliptocytosis in a white French family with the spectrin alpha I/74 variant related to a CGT to CAT codon change (Arg to His) at position 22 of the spectrin alpha I domain. 6 61
2328319 1990
12
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. 6 61
2794061 1989
13
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. 6 61
2567189 1989
14
Distinct variants of erythrocyte protein 4.1 inherited in linkage with elliptocytosis and Rh type in three white families. 6 61
3134067 1988
15
Mutant forms of spectrin alpha-subunits in hereditary elliptocytosis. 6 61
3597773 1987
16
Double inheritance of an alpha I/65 spectrin variant in a child with homozygous elliptocytosis. 6 61
3708157 1986
17
A new abnormal variant of spectrin in black patients with hereditary elliptocytosis. 6 61
3922449 1985
18
Pathologic and nonpathologic variants of the spectrin molecule in two black families with hereditary elliptocytosis. 61 6
4077050 1985
19
The heterozygous form of 4.1(-) hereditary elliptocytosis [the 4.1(-) trait]. 61 6
3965051 1985
20
Spectrin tetramer-dimer equilibrium in hereditary elliptocytosis. 6 61
7074218 1982
21
Deficiency of skeletal membrane protein band 4.1 in homozygous hereditary elliptocytosis. Implications for erythrocyte membrane stability. 61 6
6894932 1981
22
[1st instance of the absence of an erythrocyte membrane protein (band 4(1)) in a case of familial elliptocytic anemia]. 6 61
7255153 1980
23
Red cell membrane disorders. 61 52
28447420 2017
24
Genotype-phenotype correlations in hereditary elliptocytosis and hereditary pyropoikilocytosis. 61 52
27667160 2016
25
A novel splicing mutation of the alpha-spectrin gene in the original hereditary pyropoikilocytosis kindred. 6
16150946 2005
26
SVA elements are nonautonomous retrotransposons that cause disease in humans. 6
14628287 2003
27
Structure and genetics of the partially duplicated gene RP located immediately upstream of the complement C4A and the C4B genes in the HLA class III region. Molecular cloning, exon-intron structure, composite retroposon, and breakpoint of gene duplication. 6
8132574 1994
28
Mutations involving the spectrin heterodimer contact site: clinical expression and alterations in specific function. 6
8434258 1993
29
Spectrin Jendouba: an alpha II/31 spectrin variant that is associated with elliptocytosis and carries a mutation distant from the dimer self-association site. 6
1638030 1992
30
Occurrence of the alpha I 22 Arg----His (CGT----CAT) spectrin mutation in Tunisia: potential association with severe elliptopoikilocytosis. 6
2043465 1991
31
A defect in alpha-spectrin mRNA accumulation in hereditary pyropoikilocytosis. 6
1845156 1991
32
Molecular analysis of insertion/deletion mutations in protein 4.1 in elliptocytosis. I. Biochemical identification of rearrangements in the spectrin/actin binding domain and functional characterizations. 6
2384597 1990
33
Two elliptocytogenic alpha I/74 variants of the spectrin alpha I domain. Spectrin Culoz (GGT----GTT; alpha I 40 Gly----Val) and spectrin Lyon (CTT----TTT; alpha I 43 Leu---Phe). 6
2384601 1990
34
Severe recessive poikilocytic anaemia with a new spectrin alpha chain variant. 6
2346729 1990
35
Spectrin Tunis (Sp alpha I/78), an elliptocytogenic variant, is due to the CGG----TGG codon change (Arg----Trp) at position 35 of the alpha I domain. 6
2568861 1989
36
Multiple protein 4.1 isoforms produced by alternative splicing in human erythroid cells. 6
3194408 1988
37
Spectrin Oran (alpha II/21), a new spectrin variant concerning the alpha II domain and causing severe elliptocytosis in the homozygous state. 6
2895677 1988
38
Restoration of normal membrane stability to unstable protein 4.1-deficient erythrocyte membranes by incorporation of purified protein 4.1. 6
3722387 1986
39
A congenital haemolytic anaemia with thermal sensitivity of the erythrocyte membrane. 6
1191563 1975
40
Spectrin-based skeleton in red blood cells and malaria. 54 61
17414207 2007
41
Pathogenic proline mutation in the linker between spectrin repeats: disease caused by spectrin unfolding. 54 61
17192394 2007
42
DNA methylation in promoter regions of red cell membrane protein genes in healthy individuals and patients with hereditary membrane disorders. 54 61
16158818 2005
43
Hemoglobinopathies, G6PD deficiency, and hereditary elliptocytosis in Bahrain. 61 54
15757247 2004
44
Hereditary elliptocytosis: spectrin and protein 4.1R. 61 54
15071791 2004
45
Experience with eosin-5'-maleimide as a diagnostic tool for red cell membrane cytoskeleton disorders. 61 54
14641141 2003
46
Erythrocyte membrane proteins in healthy Saudis and patients with hereditary spherocytosis and hereditary elliptocytosis. 54 61
16985305 2003
47
Molecular basis of red cell membrane disorders. 61 54
12432217 2002
48
Reversible erythrocyte skeleton destabilization is modulated by beta-spectrin phosphorylation in childhood leukemia. 61 54
11237068 2001
49
Defective spectrin integrity and neonatal thrombosis in the first mouse model for severe hereditary elliptocytosis. 61 54
11154235 2001
50
Mild spherocytic hereditary elliptocytosis and altered levels of alpha- and gamma-adducins in beta-adducin-deficient mice. 61 54
10845937 2000
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Variations for Hereditary Elliptocytosis

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ClinVar genetic disease variations for Hereditary Elliptocytosis:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 EPB41 NM_203342.2(EPB41):c.444_450del (p.Asn149fs)deletion Pathogenic 221297 rs869025285 1:29344901-29344907 1:29018389-29018395
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Expression for Hereditary Elliptocytosis

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Search GEO for disease gene expression data for Hereditary Elliptocytosis.
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Pathways for Hereditary Elliptocytosis

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

# Super pathways Score Top Affiliating Genes
1
L1CAM interactions 65
Show member pathways
 11.55 SPTB SPTAN1 SPTA1 ANK1
2
Miscellaneous transport and binding events 65
10.41 ADD3 ADD2 ADD1
3
Interaction between L1 and Ankyrins 65
10.4 SPTB SPTAN1 SPTA1 ANK1
Sources

GO Terms for Hereditary Elliptocytosis

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.38 SPTAN1 SPTA1 SLC4A1 RHD GYPC GYPA
2 plasma membrane GO:0005886 10.25 SLC4A1 RHD OSGEP GYPC GYPA EPB42
3 cytoskeleton GO:0005856 10.02 SPTB SPTAN1 SPTA1 EPB42 EPB41 ANK1
4 postsynaptic density GO:0014069 9.81 EPB41 ADD3 ADD2 ADD1
5 cell cortex GO:0005938 9.72 SPTB SPTAN1 SPTA1 EPB41 ADD3
6 blood microparticle GO:0072562 9.7 SLC4A1 HBE1 CD5L
7 plasma membrane raft GO:0044853 9.61 ADD3 ADD2 ADD1
8 cytoplasmic side of plasma membrane GO:0009898 9.55 SPTA1 SLC4A1 G6PD EPB41 ANK1
9 F-actin capping protein complex GO:0008290 9.49 ADD2 ADD1
10 intrinsic component of the cytoplasmic side of the plasma membrane GO:0031235 9.46 SPTB SPTA1
11 spectrin GO:0008091 9.43 SPTB SPTAN1 SPTA1
12 spectrin-associated cytoskeleton GO:0014731 9.26 SPTB SPTA1 EPB41 ANK1
13 cortical cytoskeleton GO:0030863 9.02 SPTA1 SLC4A1 GYPC EPB42 EPB41

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

# Name GO ID Score Top Affiliating Genes
1 leukocyte migration GO:0050900 9.76 GYPC GYPA CD47 ADD2
2 actin cytoskeleton organization GO:0030036 9.73 SPTA1 EPB41 ADD2 ADD1
3 ER to Golgi vesicle-mediated transport GO:0006888 9.71 SPTB SPTAN1 SPTA1 ANK1
4 actin filament bundle assembly GO:0051017 9.5 ADD3 ADD2 ADD1
5 erythrocyte maturation GO:0043249 9.48 G6PD EPB42
6 barbed-end actin filament capping GO:0051016 9.43 ADD3 ADD2 ADD1
7 hemoglobin metabolic process GO:0020027 9.37 EPB42 ADD1
8 actin filament capping GO:0051693 9.33 SPTB SPTAN1 SPTA1
9 positive regulation of protein binding GO:0032092 9.26 SPTA1 EPB41 ADD2 ADD1
10 cytoskeleton organization GO:0007010 9.02 SPTB SPTAN1 EPB42 ANK1 ADD3

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

# Name GO ID Score Top Affiliating Genes
1 actin filament binding GO:0051015 9.77 SPTB SPTA1 ADD3 ADD2 ADD1
2 calmodulin binding GO:0005516 9.72 SPTAN1 EPB41 ADD3 ADD2 ADD1
3 actin binding GO:0003779 9.7 SPTB SPTAN1 SPTA1 EPB41 ADD3 ADD2
4 structural molecule activity GO:0005198 9.65 EPB41 ANK1 ADD3 ADD2 ADD1
5 ankyrin binding GO:0030506 9.4 SPTB SLC4A1
6 spectrin binding GO:0030507 9.35 EPB41 ANK1 ADD3 ADD2 ADD1
7 structural constituent of cytoskeleton GO:0005200 9.28 SPTB SPTAN1 SPTA1 EPB42 EPB41 ANK1
Sources

Sources for Hereditary Elliptocytosis

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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