Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

hemolytic anemia due to adenylate kinase deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hemolytic anemia due to adenylate kinase deficiency

MONDO:0012967

Also known as:adenylate kinase deficiency, hemolytic anaemia due toadenylate kinase deficiency, hemolytic anemia due to

Overview

Hemolytic anemia due to adenylate kinase deficiency is a rare hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by moderate to severe chronic nonspherocytic hemolytic anemia that may require regular blood transfusions and/or splenectomy and may be associated with psychomotor impairment.

GeneticsAutosomal recessive · AK1 (chr 9)

ResearchLimited published research (1 article)

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: Reduced erythrocyte adenylate kinase activity. 2 total HPO annotations.

Organ System	Phenotype Count	Example Features
Blood and immune system	1	Red blood cell destruction (hemolytic anemia)

Explore clinical features

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.

AK1 encodes adenylate kinase 1 (194 aa). Catalyzes the reversible transfer of the terminal phosphate group between ATP and AMP. Also displays broad nucleoside diphosphate kinase activity. Highest expression in Muscle Skeletal (223.5 TPM) and Heart Atrial Appendage (136.2 TPM).

Hemolytic anemia due to adenylate kinase deficiency is associated with mutations in the AK1 gene on chromosome 9.

The AK1 protein participates in (d)AMP + ATP (d)ADP + ADP (AK1) and (d)ADP + ADP (d)AMP + ATP (AK1) pathways.

AK1 is classified as a druggable target (Enzyme and Kinase categories) with score 1.5.

Diagnosis

Genetic testing for AK1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present feature.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 hemolytic anemia due to adenylate kinase deficiency.

1 publication has been identified in PubMed for hemolytic anemia due to adenylate kinase deficiency. Research spans Case Report / Case Series (100%).

Recent Publications

Chen L (2025). [PMID: 40016400](https://pubmed.ncbi.nlm.nih.gov/40016400/). *Ann Hematol*. [Case Report / Case Series]

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

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:612631

Orphanet

European rare disease database

Orphanet:86817

GARD

Genetic and Rare Diseases Info Center

GARD:16760

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?

← Back to All Diseases

hemolytic anemia due to adenylate kinase deficiency

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team