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sideroblastic anemia 3 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

sideroblastic anemia 3

MONDO:0014804

Also known as:GLRX5-related sideroblastic anaemiaGLRX5-related sideroblastic anemiaSIDBA3

Overview

GeneticsAutosomal recessive · GLRX5 (chr 14)

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 sometimes findings: Liver scarring (cirrhosis) (cirrhosis). 15 total HPO annotations.

Organ System	Phenotype Count	Example Features
Digestive system	7	Liver scarring (cirrhosis) (cirrhosis), Enlarged liver (hepatomegaly), Elevated hepatic iron concentration

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.

GLRX5 encodes glutaredoxin 5 (157 aa). Monothiol glutaredoxin involved in mitochondrial iron-sulfur (Fe/S) cluster transfer. Highest expression in Testis (65.0 TPM) and Adrenal Gland (55.8 TPM).

Sideroblastic anemia 3 is associated with mutations in the GLRX5 gene on chromosome 14.

The GLRX5 protein participates in Formation of 4Fe-4S cluster on ISCA1:ISCA2, FXN:NFS1:ISD11:ISCU assembles 2Fe-2S iron-sulfur cluster, and Mitochondrial iron-sulfur cluster biogenesis pathways.

GLRX5 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for GLRX5 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for sideroblastic anemia 3 has been reported in the published literature.

Prognosis

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 sideroblastic anemia 3.

22 publications have been identified in PubMed for sideroblastic anemia 3. Research spans Case Report / Case Series (45%), Basic Science / Preclinical (23%), and Review / Meta-Analysis (18%).

Research Type	Count	% of Total
Patient case studies	10	45%

Data assembled from 6 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:616860

Orphanet

European rare disease database

Orphanet:255132

GARD

Genetic and Rare Diseases Info Center

GARD:17235

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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Kisho

sideroblastic anemia 3

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

sideroblastic anemia 3

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications