EL1
MCID: ELL010
MIFTS: 24

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). 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

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 all 25)
# Related Disease Score Top Affiliating Genes
1 ovalocytosis, southeast asian 12.7
2 ovalocytosis, hereditary hemolytic, with defective erythropoiesis 12.1
3 elliptocytosis 3 11.2
4 renal tubular acidosis, distal, autosomal dominant 11.1
5 elliptocytosis 2 11.1
6 renal tubular acidosis 10.5
7 renal tubular acidosis, distal 10.4
8 malaria 10.4
9 thalassemia 10.1
10 leukemia, acute myeloid 10.1
11 leukemia 10.1
12 myeloid leukemia 10.1
13 hereditary elliptocytosis 10.0
14 cryohydrocytosis 10.0
15 thymoma, familial 10.0
16 beta-thalassemia 10.0
17 hemolytic anemia 10.0
18 neonatal anemia 10.0
19 hereditary spherocytosis 10.0
20 plasmodium vivax malaria 10.0
21 bilirubin metabolic disorder 10.0
22 thymoma 10.0
23 thymic carcinoma 10.0
24 hypersplenism 10.0
25 bowenoid papulosis 10.0

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

Publications for Elliptocytosis 1

Articles related to Elliptocytosis 1:

# Title Authors Year
1
The heterozygous form of 4.1(-) hereditary elliptocytosis [the 4.1(-) trait]. ( 3965051 )
1985

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.-159_159del deletion Pathogenic
2 EPB41 NM_004437.3(EPB41): c.1219_1587del369 deletion Pathogenic
3 EPB41 NM_004437.3(EPB41): c.1219_1458del240 deletion Pathogenic
4 EPB41 NM_203342.2(EPB41): c.2T> G (p.Met1Arg) single nucleotide variant Pathogenic rs121434564 GRCh37 Chromosome 1, 29320002: 29320002
5 EPB41 NM_203342.2(EPB41): c.2T> G (p.Met1Arg) single nucleotide variant Pathogenic rs121434564 GRCh38 Chromosome 1, 28993490: 28993490
6 EPB41 NM_203342.2(EPB41): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs121434564 GRCh37 Chromosome 1, 29320002: 29320002
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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