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hereditary spherocytosis type 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hereditary spherocytosis type 1

MONDO:0008447

Also known as:ANK1 hereditary spherocytosisHS1SPH1

Overview

Any hereditary spherocytosis in which the cause of the disease is a mutation in the ANK1 gene.

GeneticsAutosomal recessive, Autosomal dominant · ANK1 (chr 8)

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 always present findings: Hyperbilirubinemia, Red blood cell destruction (hemolytic anemia), and Increased immature red blood cells (reticulocytosis); and very common findings: Spherocytosis and Jaundice. 8 total HPO annotations.

Organ System	Phenotype Count	Example Features
Digestive system	3	Cholelithiasis, Jaundice, 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.

ANK1 encodes ankyrin 1 (1,881 aa). Component of the ankyrin-1 complex, a multiprotein complex involved in the stability and shape of the erythrocyte membrane. Highest expression in Brain Cerebellar Hemisphere (88.8 TPM) and Brain Cerebellum (85.2 TPM).

Hereditary spherocytosis type 1 is associated with mutations in the ANK1 gene on chromosome 8.

ANK1 is classified as a druggable target (Transporter category) with score 4.4.

Diagnosis

Genetic testing for ANK1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for hereditary spherocytosis type 1 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 3 always present features, 2 very common features, 2 common features.

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 hereditary spherocytosis type 1.

68 publications have been identified in PubMed for hereditary spherocytosis type 1. Research spans Case Report / Case Series (37%), Epidemiology / Natural History (18%), and Diagnostic / Biomarker (13%).

Research Type	Count	% of Total
Patient case studies	25	37%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:55 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:182900

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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hereditary spherocytosis type 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

hereditary spherocytosis type 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications