Elliptocytosis 1; El1

Description

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). Genetic Heterogeneity of ElliptocytosisElliptocytosis-2 (OMIM ) is caused by mutation in the SPTA1 gene (OMIM ). Elliptocytosis-3 (OMIM ) is caused by mutation in the SPTB gene (OMIM ). Elliptocytosis-4 (OMIM ), also known as Southeast Asian ovalocytosis, is caused by mutation in the SLC4A1 gene (OMIM ). Also see pyropoikilocytosis (OMIM ).See Delaunay (2007) for a discussion of the molecular basis of hereditary red cell membrane disorders.

Clinical Features

Phenotypes and symptoms related to Elliptocytosis 1; El1

  • Anemia
  • Jaundice
  • Pallor
  • Hemolytic anemia
  • Poikilocytosis
  • Elliptocytosis
  • Congenital hemolytic anemia
  • Pyropoikilocytosis

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Elliptocytosis 1; El1 Is also known as protein 4.1 of erythrocyte membrane, defect of, elliptocytosis, rhesus-linked type, 4.1- trait, 4.1-minus trait.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Elliptocytosis 1; El1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Red Blood Cell Membrane Disorders panel by next-generation sequencing (NGS).

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

RHAG, SLC2A1, SPTA1, SPTB, XK, ATP11C, ABCG5, ABCG8, COL4A1, PIEZO1, EPB41, EPB42, GYPC, ANK1, KCNN4
Specificity
7 %
Genes
100 %
Hemolytic Anemia Panel by next-generation sequencing (NGS).

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

RHAG, SEC23B, SLC2A1, SPTA1, SPTB, TPI1, XK, ATP11C, ABCG5, ABCG8, LPIN2, CDAN1, NT5C3A, COL4A1, C15orf41, PIEZO1, EPB41, EPB42, AK1, ALAS2 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %
EPB41 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

EPB41
Specificity
100 %
Genes
100 %
EPB41 Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

EPB41
Specificity
100 %
Genes
100 %
Hemolytic Anemia Deletion/Duplication Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

RHAG, SEC23B, SLC2A1, SPTA1, SPTB, TPI1, XK, ABCG5, ABCG8, LPIN2, CDAN1, NT5C3A, C15orf41, PIEZO1, EPB41, EPB42, AK1, G6PD, ALDOA, GATA1 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %
Red Blood Cell Membrane Disorders Deletion/Duplication Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

RHAG, SLC2A1, SPTA1, SPTB, XK, ABCG5, ABCG8, PIEZO1, EPB41, EPB42, GYPC, ANK1
Specificity
9 %
Genes
100 %
Hereditary Hemolytic Anemia Panel, Sequencing.

By ARUP Laboratories, Molecular Genetics and Genomics (United States).

SLCO1B1, SLCO1B3, SPTA1, SPTB, TPI1, UGT1A1, UGT1A6, UGT1A7, NT5C3A, ADA, CYB5R3, PIEZO1, EPB41, EPB42, AK1, G6PD, ALDOA, GCLC, GPI, GSS , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Elliptocytosis 1 (EL1, sequence analysis of EPB41 gene).

By CGC Genetics (Portugal).

EPB41
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM MESH Genetic Syndrome Finder

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