EL1
MCID: ELL010
MIFTS: 28

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 58 76 30 6 41 74
Elliptocytosis-1 58 13
El1 58 76
Protein 4.1 of Erythrocyte Membrane, Defect of 58
Elliptocytosis, Rhesus-Linked Type 58
Elliptocytosis Rhesus-Linked Type 76
Elliptocytosis, Hereditary 74
4.1-Minus Trait 58
Ovalocytosis 76
4.1- Trait 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive
autosomal dominant

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


HPO:

33

Classifications:



Summaries for Elliptocytosis 1

OMIM : 58 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)

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

UniProtKB/Swiss-Prot : 76 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

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:

33
# Description HPO Frequency HPO Source Accession
1 hemolytic anemia 33 HP:0001878
2 pallor 33 HP:0000980
3 jaundice 33 HP:0000952
4 elliptocytosis 33 HP:0004445

Symptoms via clinical synopsis from OMIM:

58
Abdomen Spleen:
splenomegaly

Skin Nails Hair Skin:
pallor
jaundice

Hematology:
anemia
elliptocytosis
aplastic crisis (in some patients)

Clinical features from OMIM:

611804

Drugs & Therapeutics for Elliptocytosis 1

Search Clinical Trials , NIH Clinical Center for Elliptocytosis 1

Genetic Tests for Elliptocytosis 1

Genetic tests related to Elliptocytosis 1:

# Genetic test Affiliating Genes
1 Elliptocytosis 1 30 EPB41

Anatomical Context for Elliptocytosis 1

MalaCards organs/tissues related to Elliptocytosis 1:

42
Myeloid

Publications for Elliptocytosis 1

Articles related to Elliptocytosis 1:

(show all 20)
# Title Authors Year
1
EL1-like Casein Kinases Suppress ABA Signaling and Responses by Phosphorylating and Destabilizing the ABA Receptors PYR/PYLs in Arabidopsis. ( 29505832 )
2018
2
Draft Genome Sequence of the Grapevine Dieback Fungus Eutypa lata UCR-EL1. ( 23723393 )
2013
3
Rice homeobox transcription factor HOX1a positively regulates gibberellin responses by directly suppressing EL1. ( 21951842 )
2011
4
The Inhibitory Effect of Phytoclear-EL1 on Melanogenesis. ( 20523826 )
2009
5
Low expression of MDS1-EVI1-like-1 (MEL1) and EVI1-like-1 (EL1) genes in favorable-risk acute myeloid leukemia. ( 14585371 )
2003
6
A Dde I RFLP in exon 21 of human EL1 gene, encoding protein 4.1, detectable by SSCP. ( 9554757 )
1998
7
Protein 4.1 Lille, a novel mutation in the downstream initiation codon of protein 4.1 gene associated with heterozygous 4,1(-) hereditary elliptocytosis. ( 7627190 )
1995
8
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. ( 8423235 )
1993
9
Homozygous 4.1(-) hereditary elliptocytosis associated with a point mutation in the downstream initiation codon of protein 4.1 gene. ( 1430200 )
1992
10
Two RFLPs in the human protein 4.1 gene (EL1). ( 1682895 )
1991
11
Rapid localization of membrane skeletal protein 4.1 (EL1) to human chromosome 1p33----p34.2 by nonradioactive in situ hybridization. ( 1914519 )
1991
12
Molecular analysis of insertion/deletion mutations in protein 4.1 in elliptocytosis. II. Determination of molecular genetic origins of rearrangements. ( 2384598 )
1990
13
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. ( 2384597 )
1990
14
Multiple protein 4.1 isoforms produced by alternative splicing in human erythroid cells. ( 3194408 )
1988
15
Distinct variants of erythrocyte protein 4.1 inherited in linkage with elliptocytosis and Rh type in three white families. ( 3134067 )
1988
16
Restoration of normal membrane stability to unstable protein 4.1-deficient erythrocyte membranes by incorporation of purified protein 4.1. ( 3722387 )
1986
17
The heterozygous form of 4.1(-) hereditary elliptocytosis [the 4.1(-) trait]. ( 3965051 )
1985
18
Deficiency of skeletal membrane protein band 4.1 in homozygous hereditary elliptocytosis. Implications for erythrocyte membrane stability. ( 6894932 )
1981
19
[1st instance of the absence of an erythrocyte membrane protein (band 4(1)) in a case of familial elliptocytic anemia]. ( 7255153 )
1980
20
On the orientation of the Rh: El1 linkage group. ( 413469 )
1977

Variations for Elliptocytosis 1

ClinVar genetic disease variations for Elliptocytosis 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 EPB41 NM_203342.2(EPB41): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs121434564 GRCh37 Chromosome 1, 29320002: 29320002
2 EPB41 NM_203342.2(EPB41): c.-159_159del deletion Pathogenic
3 EPB41 NM_004437.3(EPB41): c.1219_1587del369 deletion Pathogenic
4 EPB41 NM_004437.3(EPB41): c.1219_1458del240 deletion Pathogenic
5 EPB41 NM_203342.2(EPB41): c.2T> G (p.Met1Arg) single nucleotide variant Pathogenic rs121434564 GRCh37 Chromosome 1, 29320002: 29320002
6 EPB41 NM_203342.2(EPB41): c.2T> G (p.Met1Arg) single nucleotide variant Pathogenic rs121434564 GRCh38 Chromosome 1, 28993490: 28993490
7 EPB41 NM_203342.2(EPB41): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs121434564 GRCh38 Chromosome 1, 28993490: 28993490
8 EPB41 NM_004437.3(EPB41): c.1321G> C (p.Ala441Pro) single nucleotide variant not provided GRCh38 Chromosome 1, 29065021: 29065021
9 EPB41 NM_004437.3(EPB41): c.1321G> C (p.Ala441Pro) single nucleotide variant not provided GRCh37 Chromosome 1, 29391533: 29391533

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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