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elliptocytosis 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

elliptocytosis 2

MONDO:0007533

Also known as:SPTA1 hereditary elliptocytosiselliptocytosis type 2hereditary elliptocytosis caused by mutation in SPTA1

Overview

Any hereditary elliptocytosis in which the cause of the disease is a mutation in the SPTA1 gene.

GeneticsAutosomal dominant · SPTA1 (chr 1)

OnsetNEONATAL

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, Neonatal hyperbilirubinemia, Red blood cell destruction (hemolytic anemia), and Increased immature red blood cells (reticulocytosis).

Organ System	Phenotype Count	Example Features
Blood and immune system	2	Red blood cell destruction (hemolytic anemia), Increased immature red blood cells (reticulocytosis)

Genetic Landscape

SPTA1 function has not been fully characterized.

Elliptocytosis 2 is associated with mutations in the SPTA1 gene on chromosome 1.

Diagnosis

Genetic testing for SPTA1 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 2.

12 publications have been identified in PubMed for elliptocytosis 2. Research spans Case Report / Case Series (75%), Epidemiology / Natural History (17%), and Basic Science / Preclinical (8%).

Research Type	Count	% of Total
Patient case studies	9	75%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 5:31 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:130600

GARD

Genetic and Rare Diseases Info Center

GARD:15064

Questions for Your Care Team

→Should I pursue genetic testing for SPTA1, and what would the results mean for my family?
→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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Kisho

elliptocytosis 2

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

elliptocytosis 2

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications