MCID: ELL010
MIFTS: 22

Elliptocytosis 1

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

Aliases & Classifications for Elliptocytosis 1

MalaCards integrated aliases for Elliptocytosis 1:

Name: Elliptocytosis 1 57 75 29 6 40 73
Elliptocytosis-1 57 13
El1 57 75
Protein 4.1 of Erythrocyte Membrane, Defect of 57
Elliptocytosis, Rhesus-Linked Type 57
Elliptocytosis Rhesus-Linked Type 75
Elliptocytosis, Hereditary 73
4.1-Minus Trait 57
Ovalocytosis 75
4.1- Trait 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant
autosomal recessive

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


HPO:

32
elliptocytosis 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 611804
MedGen 42 C2678497
MeSH 44 D004612
UMLS 73 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)

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 elliptocytosis

UniProtKB/Swiss-Prot : 75 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:

# Related Disease Score Top Affiliating Genes
1 ovalocytosis, southeast asian 12.5
2 ovalocytosis, hereditary hemolytic, with defective erythropoiesis 11.9
3 elliptocytosis 3 11.0
4 hereditary elliptocytosis 9.9
5 leukemia, acute myeloid 9.9
6 leukemia 9.9
7 myeloid leukemia 9.9

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



Diseases related to Elliptocytosis 1

Symptoms & Phenotypes for Elliptocytosis 1

Symptoms via clinical synopsis from OMIM:

57
AbdomenSpleen:
splenomegaly

Hematology:
elliptocytosis
anemia
aplastic crisis (in some patients)

Skin Nails Hair Skin:
pallor
jaundice


Clinical features from OMIM:

611804

Human phenotypes related to Elliptocytosis 1:

32
# Description HPO Frequency HPO Source Accession
1 hemolytic anemia 32 HP:0001878
2 elliptocytosis 32 HP:0004445

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 29 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

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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