HE
MCID: HRD012
MIFTS: 54

Hereditary Elliptocytosis (HE)

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

Aliases & Classifications for Hereditary Elliptocytosis

MalaCards integrated aliases for Hereditary Elliptocytosis:

Name: Hereditary Elliptocytosis 12 73 20 58 36 29 6 15 32
Elliptocytosis, Hereditary 44 70
Ovalocytosis 12 6
Congenital Elliptocytosis 12
Elliptocytosis Hereditary 54
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:

Orphanet: 58  
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:2373
KEGG 36 H00231
ICD9CM 34 282.1
MeSH 44 D004612
NCIt 50 C35882
SNOMED-CT 67 154801000
ICD10 32 D58.1
MESH via Orphanet 45 D004612
ICD10 via Orphanet 33 D58.1
UMLS via Orphanet 71 C0013902
Orphanet 58 ORPHA288
UMLS 70 C0013902

Summaries for Hereditary Elliptocytosis

GARD : 20 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 hemolytic anemia. 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. Affiliated tissues include spleen and myeloid, 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 : 73 Hereditary elliptocytosis, also known as ovalocytosis, is an inherited blood disorder in which an... more...

Related Diseases for Hereditary Elliptocytosis

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 102)
# Related Disease Score Top Affiliating Genes
1 pyropoikilocytosis, hereditary 32.2 SPTB SPTA1
2 hemolytic anemia 30.8 SPTB SPTA1 SLC4A1 RHD G6PD EPB42
3 hemoglobinopathy 30.7 HBE1 GYPA G6PD
4 beta-thalassemia 30.4 SPTB SPTA1 SLC4A1 RHD HBE1 G6PD
5 deficiency anemia 30.4 SPTB SPTA1 SLC4A1 RHD HBE1 G6PD
6 hereditary stomatocytosis 30.2 SLC4A1 ADD2 ADD1
7 glucosephosphate dehydrogenase deficiency 30.2 SLC4A1 HBE1 G6PD
8 hemoglobin h disease 30.2 HBE1 G6PD EPB41
9 blood group incompatibility 30.2 SLC4A1 RHD G6PD
10 pyruvate kinase deficiency of red cells 30.0 HBE1 G6PD
11 spherocytosis, type 2 30.0 SPTB SPTA1
12 hereditary spherocytosis 29.9 SPTB SPTA1 SLC4A1 RHD OSGEP HBE1
13 malaria 29.7 SPTA1 SLC4A1 RHD HBE1 GYPC GYPA
14 congenital hemolytic anemia 29.6 SPTB SPTA1 SLC4A1 HBE1 GYPA G6PD
15 elliptocytosis 3 11.3
16 elliptocytosis 2 11.2
17 elliptocytosis 1 11.2
18 ovalocytosis, southeast asian 11.1
19 blood group, gerbich system 11.1
20 autosomal dominant distal renal tubular acidosis 11.0
21 ovalocytosis, hereditary hemolytic, with defective erythropoiesis 11.0
22 meningococcal infection 10.3 G6PD ADD1
23 rh isoimmunization 10.3 RHD G6PD
24 thalassemia 10.3
25 spinocerebellar ataxia 5 10.3 SPTB SPTAN1 EPB41 ANK1
26 kernicterus 10.3 SLC4A1 RHD G6PD
27 cataract 14, multiple types 10.3 SLC4A1 OSGEP
28 splenomegaly 10.3
29 rh deficiency syndrome 10.3 RHD GYPA CD47
30 fetal erythroblastosis 10.3 RHD GYPC GYPA
31 hemoglobin d disease 10.2 HBE1 GYPA
32 nystagmus 6, congenital, x-linked 10.2 EPB41 CD47
33 glutamate-cysteine ligase deficiency 10.2 SPTA1 SLC4A1 RHD EPB41 ANK1
34 otopalatodigital syndrome spectrum disorder 10.2 RHD GYPA ADD2 ADD1
35 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema 10.2 SPTA1 SLC4A1 EPB42 EPB41 ANK1
36 congenital nonspherocytic hemolytic anemia 10.2 HBE1 G6PD
37 developmental and epileptic encephalopathy 5 10.2 SPTB SPTAN1 SPTA1 GYPC EPB41 ANK1
38 helix syndrome 10.2
39 bilirubin metabolic disorder 10.2
40 rare hemolytic anemia 10.2
41 hypereosinophilic syndrome 10.1
42 melnick-needles syndrome 10.1 RHD GYPC GYPA ADD3 ADD2 ADD1
43 pfeiffer syndrome 10.1
44 autoimmune lymphoproliferative syndrome 10.1
45 cholelithiasis 10.1
46 renal tubular acidosis 10.1
47 47,xyy 10.1
48 metabolic acidosis 10.0
49 hypokalemia 10.0
50 neonatal anemia 10.0

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



Diseases related to Hereditary Elliptocytosis

Symptoms & Phenotypes for Hereditary Elliptocytosis

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 frontal bossing 58 31 very rare (1%) Very rare (<4-1%) HP:0002007
10 fever 58 31 very rare (1%) Very rare (<4-1%) HP:0001945
11 hydrops fetalis 58 31 very rare (1%) Very rare (<4-1%) HP:0001789
12 postnatal growth retardation 58 31 very rare (1%) Very rare (<4-1%) HP:0008897
13 cholelithiasis 58 31 very rare (1%) Very rare (<4-1%) HP:0001081
14 abdominal pain 58 31 very rare (1%) Very rare (<4-1%) HP:0002027
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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.06 ACSL4 ADD1 ADD2 ADD3 ANK1 CD47
2 cardiovascular system MP:0005385 10 ACSL4 ADD2 ADD3 ANK1 CD47 COL4A5
3 homeostasis/metabolism MP:0005376 9.8 ACSL4 ADD1 ADD2 ANK1 CD47 COL4A5
4 renal/urinary system MP:0005367 9.17 ADD2 ANK1 COL4A5 EPB41 SLC4A1 SPTA1

Drugs & Therapeutics for Hereditary Elliptocytosis

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Case Report: A Novel Mutation of the Spectrin Gene in a Family of Northern European Descent Is Associated With Three Different Phenotypes Completed NCT00723567

Search NIH Clinical Center for Hereditary Elliptocytosis

Cochrane evidence based reviews: elliptocytosis, hereditary

Genetic Tests for Hereditary Elliptocytosis

Genetic tests related to Hereditary Elliptocytosis:

# Genetic test Affiliating Genes
1 Hereditary Elliptocytosis 29

Anatomical Context for Hereditary Elliptocytosis

MalaCards organs/tissues related to Hereditary Elliptocytosis:

40
Spleen, Myeloid

Publications for Hereditary Elliptocytosis

Articles related to Hereditary Elliptocytosis:

(show top 50) (show all 620)
# 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. 6 61
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. 6 61
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. 6 61
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. 61 6
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. 61 6
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. 61 6
3922449 1985
18
Pathologic and nonpathologic variants of the spectrin molecule in two black families with hereditary elliptocytosis. 6 61
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. 61 6
7074218 1982
21
Deficiency of skeletal membrane protein band 4.1 in homozygous hereditary elliptocytosis. Implications for erythrocyte membrane stability. 6 61
6894932 1981
22
[1st instance of the absence of an erythrocyte membrane protein (band 4(1)) in a case of familial elliptocytic anemia]. 61 6
7255153 1980
23
Red cell membrane disorders. 61 20
28447420 2017
24
Genotype-phenotype correlations in hereditary elliptocytosis and hereditary pyropoikilocytosis. 61 20
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
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
33
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
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
Distal renal tubular acidosis in Filipino children, caused by mutations of the anion-exchanger SLC4A1 (AE1, Band 3) gene. 54 61
20068363 2010
41
[Genetic resistance to malaria]. 54 61
19566055 2009
42
Molecular population genetics of SLC4A1 and Southeast Asian ovalocytosis. 61 54
19229254 2009
43
The mutant erythrocyte band 3 protein in Southeast Asian ovalocytosis does not bind eosin-5-maleimide. 61 54
19230205 2009
44
Southeast Asian ovalocytosis and a sickle cell trait in a young patient with sudden retinal stroke: a fortuitous association? 61 54
19958192 2009
45
Dominant-negative effect of Southeast Asian ovalocytosis anion exchanger 1 in compound heterozygous distal renal tubular acidosis. 61 54
17941824 2008
46
Distal renal tubular acidosis and ovalocytosis: a case report. 54 61
17690931 2008
47
Host erythrocyte polymorphisms and exposure to Plasmodium falciparum in Papua New Guinea. 54 61
18173836 2008
48
Spectrin-based skeleton in red blood cells and malaria. 61 54
17414207 2007
49
Pathogenic proline mutation in the linker between spectrin repeats: disease caused by spectrin unfolding. 61 54
17192394 2007
50
[Erythrocyte polymorphism in Mali: epidemiology and resistance mechanisms against severe Plasmodium falciparum malaria]. 54 61
18225432 2007

Variations for Hereditary Elliptocytosis

ClinVar genetic disease variations for Hereditary Elliptocytosis:

6 (show top 50) (show all 443)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SPTA1 NM_003126.4(SPTA1):c.1412A>C (p.Gln471Pro) SNV Pathogenic 12845 rs121918635 GRCh37: 1:158641925-158641925
GRCh38: 1:158672135-158672135
2 SPTA1 NM_003126.4(SPTA1):c.781T>C (p.Ser261Pro) SNV Pathogenic 12848 rs121918636 GRCh37: 1:158648222-158648222
GRCh38: 1:158678432-158678432
3 SPTA1 NM_003126.4(SPTA1):c.135G>T (p.Arg45Ser) SNV Pathogenic 12849 rs121918637 GRCh37: 1:158655027-158655027
GRCh38: 1:158685237-158685237
4 SPTA1 NM_003126.4(SPTA1):c.2465-1G>A SNV Pathogenic 12860 rs863223305 GRCh37: 1:158631200-158631200
GRCh38: 1:158661410-158661410
5 SPTA1 SPTA1, EX5DEL, SVA RETROTRANSPOSON INS Indel Pathogenic 12861 GRCh37:
GRCh38:
6 EPB41 NM_203342.2(EPB41):c.-159_159del Deletion Pathogenic 16711 GRCh37:
GRCh38:
7 EPB41 NM_004437.3(EPB41):c.1219_1587del Deletion Pathogenic 16712 GRCh37:
GRCh38:
8 EPB41 NM_004437.3(EPB41):c.1219_1458del Deletion Pathogenic 16713 GRCh37:
GRCh38:
9 EPB41 NM_004437.4(EPB41):c.2T>G (p.Met1Arg) SNV Pathogenic 16714 rs121434564 GRCh37: 1:29320002-29320002
GRCh38: 1:28993490-28993490
10 EPB41 NM_004437.4(EPB41):c.2T>C (p.Met1Thr) SNV Pathogenic 16715 rs121434564 GRCh37: 1:29320002-29320002
GRCh38: 1:28993490-28993490
11 EPB41 NM_004437.4(EPB41):c.444_450del (p.Asn149fs) Deletion Pathogenic 221297 rs869025285 GRCh37: 1:29344901-29344907
GRCh38: 1:29018389-29018395
12 SPTA1 NM_003126.4(SPTA1):c.121C>T (p.Arg41Trp) SNV Pathogenic 12852 rs121918640 GRCh37: 1:158655041-158655041
GRCh38: 1:158685251-158685251
13 SPTA1 NM_003126.4(SPTA1):c.83G>T (p.Arg28Leu) SNV Pathogenic 12853 rs121918641 GRCh37: 1:158655079-158655079
GRCh38: 1:158685289-158685289
14 SPTA1 NM_003126.4(SPTA1):c.82C>A (p.Arg28Ser) SNV Pathogenic 12854 rs121918642 GRCh37: 1:158655080-158655080
GRCh38: 1:158685290-158685290
15 SPTA1 NM_003126.4(SPTA1):c.82C>T (p.Arg28Cys) SNV Pathogenic 12855 rs121918642 GRCh37: 1:158655080-158655080
GRCh38: 1:158685290-158685290
16 SPTA1 NM_003126.4(SPTA1):c.620T>C (p.Leu207Pro) SNV Pathogenic 12857 rs121918643 GRCh37: 1:158650431-158650431
GRCh38: 1:158680641-158680641
17 SPTA1 NM_003126.4(SPTA1):c.779T>C (p.Leu260Pro) SNV Pathogenic 12844 rs121918634 GRCh37: 1:158648224-158648224
GRCh38: 1:158678434-158678434
18 SPTA1 NM_003126.4(SPTA1):c.83G>A (p.Arg28His) SNV Pathogenic 12856 rs121918641 GRCh37: 1:158655079-158655079
GRCh38: 1:158685289-158685289
19 SPTA1 NM_003126.4(SPTA1):c.4632dup (p.Ala1545fs) Duplication Pathogenic 997515 GRCh37: 1:158612305-158612306
GRCh38: 1:158642515-158642516
20 SPTA1 NM_003126.4(SPTA1):c.460_462dup (p.Leu155dup) Duplication Pathogenic 12847 rs757679761 GRCh37: 1:158651385-158651386
GRCh38: 1:158681595-158681596
21 SPTA1 NM_003126.4(SPTA1):c.145C>T (p.Leu49Phe) SNV Pathogenic 12851 rs121918639 GRCh37: 1:158655017-158655017
GRCh38: 1:158685227-158685227
22 SPTA1 NM_003126.4(SPTA1):c.3163C>T (p.Gln1055Ter) SNV Pathogenic 1030628 GRCh37: 1:158623089-158623089
GRCh38: 1:158653299-158653299
23 SPTA1 NM_003126.4(SPTA1):c.4339-99C>T SNV Pathogenic 1030630 GRCh37: 1:158613314-158613314
GRCh38: 1:158643524-158643524
24 SPTA1 NM_003126.4(SPTA1):c.6813_6814del (p.Glu2271fs) Microsatellite Pathogenic 1030633 GRCh37: 1:158584071-158584072
GRCh38: 1:158614281-158614282
25 SPTA1 NM_003126.4(SPTA1):c.1458dup (p.Gln487fs) Duplication Pathogenic 1033566 GRCh37: 1:158641878-158641879
GRCh38: 1:158672088-158672089
26 SPTA1 NM_003126.4(SPTA1):c.6414del (p.Ile2138fs) Deletion Pathogenic 1033568 GRCh37: 1:158589963-158589963
GRCh38: 1:158620173-158620173
27 EPB41 NM_001376013.1(EPB41):c.1944+1G>C SNV Likely pathogenic 804342 rs1477424620 GRCh37: 1:29385365-29385365
GRCh38: 1:29058853-29058853
28 SPTA1 NM_003126.4(SPTA1):c.137G>T (p.Gly46Val) SNV Likely pathogenic 12850 rs121918638 GRCh37: 1:158655025-158655025
GRCh38: 1:158685235-158685235
29 SPTB NM_001355436.2(SPTB):c.3015C>T (p.Ala1005=) SNV Uncertain significance 257107 rs147235045 GRCh37: 14:65253668-65253668
GRCh38: 14:64786950-64786950
30 SPTB NM_001355436.2(SPTB):c.1504C>T (p.Arg502Cys) SNV Uncertain significance 313765 rs755636829 GRCh37: 14:65262195-65262195
GRCh38: 14:64795477-64795477
31 OR10Z1 , SPTA1 NM_003126.4(SPTA1):c.*99_*100TG[23] Microsatellite Uncertain significance 292929 rs55832242 GRCh37: 1:158580921-158580922
GRCh38: 1:158611131-158611132
32 OR10Z1 , SPTA1 NM_003126.4(SPTA1):c.*99_*100TG[14] Microsatellite Uncertain significance 292932 rs55832242 GRCh37: 1:158580922-158580927
GRCh38: 1:158611132-158611137
33 OR10Z1 , SPTA1 NM_003126.4(SPTA1):c.*99_*100TG[15] Microsatellite Uncertain significance 292931 rs55832242 GRCh37: 1:158580922-158580925
GRCh38: 1:158611132-158611135
34 OR10Z1 , SPTA1 NM_003126.4(SPTA1):c.*99_*100TG[18] Microsatellite Uncertain significance 292926 rs55832242 GRCh37: 1:158580921-158580922
GRCh38: 1:158611131-158611132
35 OR10Z1 , SPTA1 NM_003126.4(SPTA1):c.*99_*100TG[16] Microsatellite Uncertain significance 292930 rs55832242 GRCh37: 1:158580922-158580923
GRCh38: 1:158611132-158611133
36 SPTB NM_001355436.2(SPTB):c.5943C>T (p.Arg1981=) SNV Uncertain significance 257131 rs75000411 GRCh37: 14:65235831-65235831
GRCh38: 14:64769113-64769113
37 SPTB NM_001355436.2(SPTB):c.3479G>A (p.Arg1160His) SNV Uncertain significance 313738 rs76283214 GRCh37: 14:65253204-65253204
GRCh38: 14:64786486-64786486
38 SPTA1 NM_003126.4(SPTA1):c.2572A>G (p.Lys858Glu) SNV Uncertain significance 293010 rs767236735 GRCh37: 1:158631092-158631092
GRCh38: 1:158661302-158661302
39 SPTA1 NM_003126.4(SPTA1):c.1834-12_1834-10del Deletion Uncertain significance 293025 rs886045390 GRCh37: 1:158637862-158637864
GRCh38: 1:158668072-158668074
40 SPTA1 NM_003126.4(SPTA1):c.-121dup Duplication Uncertain significance 293065 rs368830436 GRCh37: 1:158656427-158656428
GRCh38: 1:158686637-158686638
41 SPTA1 NM_003126.4(SPTA1):c.1834-14del Deletion Uncertain significance 293026 rs3039789 GRCh37: 1:158637866-158637866
GRCh38: 1:158668076-158668076
42 SPTB NM_001355436.2(SPTB):c.2108T>C (p.Met703Thr) SNV Uncertain significance 313753 rs755434241 GRCh37: 14:65260273-65260273
GRCh38: 14:64793555-64793555
43 SPTB NM_001355436.2(SPTB):c.5052C>T (p.Arg1684=) SNV Uncertain significance 313720 rs229593 GRCh37: 14:65240064-65240064
GRCh38: 14:64773346-64773346
44 SPTA1 NM_003126.4(SPTA1):c.6120+11del Deletion Uncertain significance 292958 rs750152009 GRCh37: 1:158592762-158592762
GRCh38: 1:158622972-158622972
45 SPTA1 NM_003126.4(SPTA1):c.1834-15_1834-14del Deletion Uncertain significance 293027 rs3039789 GRCh37: 1:158637866-158637867
GRCh38: 1:158668076-158668077
46 SPTA1 NM_003126.4(SPTA1):c.6789-19_6789-17dup Duplication Uncertain significance 292948 rs5778083 GRCh37: 1:158584103-158584104
GRCh38: 1:158614313-158614314
47 SPTB NM_001355436.2(SPTB):c.4973+4C>T SNV Uncertain significance 313722 rs758611621 GRCh37: 14:65241111-65241111
GRCh38: 14:64774393-64774393
48 SPTB NM_001355436.2(SPTB):c.6270-8_6270-6dup Duplication Uncertain significance 313700 rs528966701 GRCh37: 14:65233524-65233525
GRCh38: 14:64766806-64766807
49 SPTA1 NM_003126.4(SPTA1):c.5911-17_5911-8del Deletion Uncertain significance 292961 rs554241455 GRCh37: 1:158592990-158592999
GRCh38: 1:158623200-158623209
50 OR10Z1 , SPTA1 NM_003126.4(SPTA1):c.*97_*98insATGTGT Insertion Uncertain significance 292933 rs1553221961 GRCh37: 1:158580956-158580957
GRCh38: 1:158611166-158611167

Expression for Hereditary Elliptocytosis

Search GEO for disease gene expression data for Hereditary Elliptocytosis.

Pathways for Hereditary Elliptocytosis

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.55 SPTB SPTAN1 SPTA1 ANK1
2 10.41 ADD3 ADD2 ADD1
3 10.4 SPTB SPTAN1 SPTA1 ANK1

GO Terms for Hereditary Elliptocytosis

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 10.33 SPTAN1 SPTA1 SLC4A1 RHD GYPC GYPA
2 plasma membrane GO:0005886 10.28 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 9.63 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 9.48 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:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 leukocyte migration GO:0050900 9.76 GYPC GYPA CD47 ADD2
2 ER to Golgi vesicle-mediated transport GO:0006888 9.73 SPTB SPTAN1 SPTA1 ANK1
3 actin cytoskeleton organization GO:0030036 9.71 SPTA1 EPB41 ADD2 ADD1
4 regulation of cell shape GO:0008360 9.69 SPTA1 EPB42 EPB41
5 actin filament bundle assembly GO:0051017 9.5 ADD3 ADD2 ADD1
6 ion homeostasis GO:0050801 9.49 SLC4A1 EPB42
7 erythrocyte maturation GO:0043249 9.48 G6PD EPB42
8 barbed-end actin filament capping GO:0051016 9.43 ADD3 ADD2 ADD1
9 hemoglobin metabolic process GO:0020027 9.37 EPB42 ADD1
10 actin filament capping GO:0051693 9.33 SPTB SPTAN1 SPTA1
11 positive regulation of protein binding GO:0032092 9.26 SPTA1 EPB41 ADD2 ADD1
12 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 for Hereditary Elliptocytosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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