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elliptocytosis 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

elliptocytosis 1

MONDO:0012731

Also known as:EPB41 hereditary elliptocytosiselliptocytosis type 1hereditary elliptocytosis caused by mutation in EPB41

Overview

Any hereditary elliptocytosis in which the cause of the disease is a mutation in the EPB41 gene.

GeneticsAutosomal recessive, Autosomal dominant · EPB41 (chr 1)

ResearchLimited published research (2 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include: Elliptocytosis, Pallor, Red blood cell destruction (hemolytic anemia), and Jaundice and 1 more.

Organ System	Phenotype Count	Example Features
Blood and immune system	2	Red blood cell destruction (hemolytic anemia), Enlarged spleen (splenomegaly)

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

EPB41 encodes erythrocyte membrane protein band 4.1 (864 aa). Protein 4.1 is a major structural element of the erythrocyte membrane skeleton. Highest expression in Brain Cerebellar Hemisphere (91.5 TPM) and Brain Cerebellum (83.3 TPM).

Elliptocytosis 1 is associated with mutations in the EPB41 gene on chromosome 1.

EPB41 is classified as a druggable target (Transporter category) with score 2.5.

Diagnosis

Genetic testing for EPB41 is available. Testing is considered confirmatory for diagnosis.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for elliptocytosis 1.

2 publications have been identified in PubMed for elliptocytosis 1. Research spans Case Report / Case Series (100%).

Recent Publications

Sun X (2025). [PMID: 40687448](https://pubmed.ncbi.nlm.nih.gov/40687448/). *Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion*. [Case Report / Case Series]
Molina-Arrebola MA (2025). [PMID: 40530495](https://pubmed.ncbi.nlm.nih.gov/40530495/). *American journal of hematology*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 1:59 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:611804

GARD

Genetic and Rare Diseases Info Center

GARD:15528

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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elliptocytosis 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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