EL1
MCID: ELL010
MIFTS: 32

Elliptocytosis 1 (EL1)

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

Aliases & Classifications for Elliptocytosis 1

MalaCards integrated aliases for Elliptocytosis 1:

Name: Elliptocytosis 1 57 72 29 6 39 70
Elliptocytosis-1 57 13
El1 57 72
Protein 4.1 of Erythrocyte Membrane, Defect of 57
Elliptocytosis, Rhesus-Linked Type 57
Elliptocytosis Rhesus-Linked Type 72
Elliptocytosis, Hereditary 70
4.1-Minus Trait 57
Ovalocytosis 72
4.1- Trait 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
affected individuals may have heterozygous or homozygous mutations
patients with heterozygous mutations may be clinically asymptomatic


HPO:

31

Classifications:



External Ids:

OMIM® 57 611804
MeSH 44 D004612
MedGen 41 C2678497
UMLS 70 C0013902 C2678497

Summaries for Elliptocytosis 1

OMIM® : 57 Elliptocytosis is a hematologic disorder characterized by elliptically shaped erythrocytes and a variable degree of hemolytic anemia. Usually inherited as an autosomal dominant trait, elliptocytosis results from mutation in any one of several genes encoding proteins of the red cell membrane skeleton (summary by McGuire et al., 1988). (611804) (Updated 20-May-2021)

MalaCards based summary : Elliptocytosis 1, also known as elliptocytosis-1, is related to ovalocytosis, southeast asian and elliptocytosis 2. An important gene associated with Elliptocytosis 1 is EPB41 (Erythrocyte Membrane Protein Band 4.1). Affiliated tissues include kidney, myeloid and bone, and related phenotypes are splenomegaly and pallor

UniProtKB/Swiss-Prot : 72 Elliptocytosis 1: A Rhesus-linked form of hereditary elliptocytosis, a genetically heterogeneous, autosomal dominant hematologic disorder. It is characterized by variable hemolytic anemia and elliptical or oval red cell shape.

Related Diseases for Elliptocytosis 1

Diseases in the Hereditary Elliptocytosis family:

Elliptocytosis 2 Elliptocytosis 1
Elliptocytosis 3

Diseases related to Elliptocytosis 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 55)
# Related Disease Score Top Affiliating Genes
1 ovalocytosis, southeast asian 11.7
2 elliptocytosis 2 11.2
3 elliptocytosis 3 11.0
4 autosomal dominant distal renal tubular acidosis 11.0
5 ovalocytosis, hereditary hemolytic, with defective erythropoiesis 11.0
6 renal tubular acidosis 10.4
7 distal renal tubular acidosis 10.3
8 malaria 10.3
9 deficiency anemia 10.2
10 hemolytic anemia 10.1
11 hypereosinophilic syndrome 10.1
12 thalassemia 10.1
13 hereditary elliptocytosis 10.1
14 metabolic acidosis 10.0
15 bilirubin metabolic disorder 10.0
16 glucosephosphate dehydrogenase deficiency 10.0
17 hypokalemia 10.0
18 helix syndrome 10.0
19 neonatal anemia 10.0
20 hereditary spherocytosis 10.0
21 plasmodium vivax malaria 10.0
22 leukemia, acute myeloid 9.9
23 myelodysplastic syndrome 9.9
24 myeloid leukemia 9.9
25 pernicious anemia 9.8
26 renal tubular acidosis, distal, 1 9.8
27 cryohydrocytosis 9.8
28 thymoma, familial 9.8
29 renal tubular acidosis, distal, 4, with hemolytic anemia 9.8
30 beta-thalassemia 9.8
31 scoliosis 9.8
32 bone disease 9.8
33 osteomalacia 9.8
34 secondary hyperparathyroidism 9.8
35 nephrocalcinosis 9.8
36 telangiectasis 9.8
37 hyperparathyroidism 9.8
38 plasmodium falciparum malaria 9.8
39 bardet-biedl syndrome 9.8
40 neonatal jaundice 9.8
41 hemoglobinopathy 9.8
42 thymoma 9.8
43 thymic carcinoma 9.8
44 syphilis 9.8
45 blood group incompatibility 9.8
46 hemoglobin e disease 9.8
47 kidney disease 9.8
48 nephrolithiasis 9.8
49 hypersplenism 9.8
50 chronic kidney disease 9.8

Graphical network of the top 20 diseases related to Elliptocytosis 1:



Diseases related to Elliptocytosis 1

Symptoms & Phenotypes for Elliptocytosis 1

Human phenotypes related to Elliptocytosis 1:

31
# Description HPO Frequency HPO Source Accession
1 splenomegaly 31 HP:0001744
2 pallor 31 HP:0000980
3 jaundice 31 HP:0000952
4 hemolytic anemia 31 HP:0001878
5 elliptocytosis 31 HP:0004445

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Abdomen Spleen:
splenomegaly

Skin Nails Hair Skin:
pallor
jaundice

Hematology:
anemia
elliptocytosis
aplastic crisis (in some patients)

Clinical features from OMIM®:

611804 (Updated 20-May-2021)

Drugs & Therapeutics for Elliptocytosis 1

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 Elliptocytosis 1

Genetic Tests for Elliptocytosis 1

Genetic tests related to Elliptocytosis 1:

# Genetic test Affiliating Genes
1 Elliptocytosis 1 29 EPB41

Anatomical Context for Elliptocytosis 1

MalaCards organs/tissues related to Elliptocytosis 1:

40
Kidney, Myeloid, Bone

Publications for Elliptocytosis 1

Articles related to Elliptocytosis 1:

(show all 37)
# Title Authors PMID Year
1
Homozygous 4.1(-) hereditary elliptocytosis associated with a point mutation in the downstream initiation codon of protein 4.1 gene. 6 57
1430200 1992
2
Distinct variants of erythrocyte protein 4.1 inherited in linkage with elliptocytosis and Rh type in three white families. 57 6
3134067 1988
3
Restoration of normal membrane stability to unstable protein 4.1-deficient erythrocyte membranes by incorporation of purified protein 4.1. 6 57
3722387 1986
4
The heterozygous form of 4.1(-) hereditary elliptocytosis [the 4.1(-) trait]. 57 6
3965051 1985
5
Deficiency of skeletal membrane protein band 4.1 in homozygous hereditary elliptocytosis. Implications for erythrocyte membrane stability. 6 57
6894932 1981
6
[1st instance of the absence of an erythrocyte membrane protein (band 4(1)) in a case of familial elliptocytic anemia]. 6 57
7255153 1980
7
The molecular basis of hereditary red cell membrane disorders. 57
16730867 2007
8
Cloning and characterization of 4.1G (EPB41L2), a new member of the skeletal protein 4.1 (EPB41) gene family. 57
9598318 1998
9
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
7627190 1995
10
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
8423235 1993
11
Molecular analysis of insertion/deletion mutations in protein 4.1 in elliptocytosis. II. Determination of molecular genetic origins of rearrangements. 6
2384598 1990
12
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
13
Multiple protein 4.1 isoforms produced by alternative splicing in human erythroid cells. 6
3194408 1988
14
A molecular study of heterozygous protein 4.1 deficiency in hereditary elliptocytosis. 57
3058231 1988
15
Partial deficiency of protein 4.1 in hereditary elliptocytosis. 57
3674005 1987
16
Red cell membrane alteration involving protein 4.1 and protein 3 in a case of recessively inherited haemolytic anaemia. 57
3653367 1987
17
Molecular basis of hereditary elliptocytosis due to protein 4.1 deficiency. 57
3755799 1986
18
Hereditary elliptocytosis: clinical, morphological and biochemical studies of 38 cases. 57
3748797 1986
19
The characterization of protein 4.1 Presles, a shortened variant of RBC membrane protein 4.1. 57
3995181 1985
20
A variant of erythrocyte membrane skeletal protein band 4.1 associated with hereditary elliptocytosis. 57
6487803 1984
21
A shortened variant of red cell membrane protein 4.1. 57
7082842 1982
22
Elliptical erythrocyte membrane skeletons and heat-sensitive spectrin in hereditary elliptocytosis. 57
6940197 1981
23
Analysis of the red cell membrane in a family with hereditary elliptocytosis--total or partial of protein 4.1. 57
10819025 1981
24
Inherited disorders of the red cell membrane skeleton. 57
6992078 1980
25
On the orientation of the Rh: El1 linkage group. 57
413469 1977
26
Combination of hereditary elliptocytosis and heterozygous beta-thalassaemia: a family study. 57
5713643 1968
27
Homozygous hereditary elliptocytosis as the cause of haemolytic anemia in infancy. 57
5731934 1968
28
Hereditary elliptocytosis in Iceland. 57
6075442 1967
29
Hereditary elliptocutosis: linkage data in man. 57
4981252 1967
30
Erythrocyte sodium transport in hereditary elliptocytosis. 57
5970952 1966
31
Hereditary haemolytic anaemia associated with elliptocytosis: a study of three families. 57
13686129 1961
32
Data on linkage in man: ovalocytosis, sickling and the Rhesus blood group complex. 57
13810494 1960
33
The detection and estimation of linkage between the genes for elliptocytosis and the Rh blood type. 57
13313518 1956
34
Elliptocytosis with hemolytic anemia: the effects of splenectomy. 57
13224248 1955
35
Fetal anemia of unknown cause--a diagnostic challenge. 61
22161617 2011
36
Characterization and chromosomal localization of PTPRO, a novel receptor protein tyrosine phosphatase, expressed in hematopoietic stem cells. 61
9434160 1997
37
Pediatric laparoscopic splenectomy using the lateral approach. 61
8694957 1996

Variations for Elliptocytosis 1

ClinVar genetic disease variations for Elliptocytosis 1:

6 (show all 16)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EPB41 NM_203342.2(EPB41):c.-159_159del Deletion Pathogenic 16711 GRCh37:
GRCh38:
2 EPB41 NM_004437.3(EPB41):c.1219_1587del Deletion Pathogenic 16712 GRCh37:
GRCh38:
3 EPB41 NM_004437.3(EPB41):c.1219_1458del Deletion Pathogenic 16713 GRCh37:
GRCh38:
4 EPB41 NM_004437.4(EPB41):c.2T>G (p.Met1Arg) SNV Pathogenic 16714 rs121434564 GRCh37: 1:29320002-29320002
GRCh38: 1:28993490-28993490
5 EPB41 NM_004437.4(EPB41):c.2T>C (p.Met1Thr) SNV Pathogenic 16715 rs121434564 GRCh37: 1:29320002-29320002
GRCh38: 1:28993490-28993490
6 EPB41 NM_001376013.1(EPB41):c.1944+1G>C SNV Likely pathogenic 804342 rs1477424620 GRCh37: 1:29385365-29385365
GRCh38: 1:29058853-29058853
7 EPB41 NM_004437.4(EPB41):c.1321G>C (p.Ala441Pro) SNV Uncertain significance 585090 rs199764020 GRCh37: 1:29391533-29391533
GRCh38: 1:29065021-29065021
8 EPB41 NM_001376013.1(EPB41):c.2021G>A (p.Ser674Asn) SNV Uncertain significance 811351 rs1302220038 GRCh37: 1:29391507-29391507
GRCh38: 1:29064995-29064995
9 EPB41 NM_001376013.1(EPB41):c.1187A>G (p.Tyr396Cys) SNV Uncertain significance 811463 rs201227668 GRCh37: 1:29356974-29356974
GRCh38: 1:29030462-29030462
10 EPB41 NM_001376013.1(EPB41):c.640G>A (p.Val214Ile) SNV Uncertain significance 811532 rs111642750 GRCh37: 1:29320013-29320013
GRCh38: 1:28993501-28993501
11 EPB41 NM_001376013.1(EPB41):c.1464-20T>C SNV Benign 811677 rs139715164 GRCh37: 1:29365746-29365746
GRCh38: 1:29039234-29039234
12 EPB41 NM_001376013.1(EPB41):c.2314-19G>C SNV Benign 993382 GRCh37: 1:29435829-29435829
GRCh38: 1:29109317-29109317
13 EPB41 NM_001376013.1(EPB41):c.2577C>T (p.Thr859=) SNV Benign 993792 GRCh37: 1:29442291-29442291
GRCh38: 1:29115779-29115779
14 EPB41 NM_001376013.1(EPB41):c.120A>G (p.Gln40=) SNV Benign 994251 GRCh37: 1:29314069-29314069
GRCh38: 1:28987557-28987557
15 EPB41 NM_004437.4(EPB41):c.244C>T (p.Pro82Ser) SNV Benign 618089 rs142874233 GRCh37: 1:29342245-29342245
GRCh38: 1:29015733-29015733
16 EPB41 NM_001376013.1(EPB41):c.24G>A (p.Val8=) SNV Benign 811014 rs75060926 GRCh37: 1:29313973-29313973
GRCh38: 1:28987461-28987461

Expression for Elliptocytosis 1

Search GEO for disease gene expression data for Elliptocytosis 1.

Pathways for Elliptocytosis 1

GO Terms for Elliptocytosis 1

Sources for Elliptocytosis 1

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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