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heme oxygenase 1 deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

heme oxygenase 1 deficiency

MONDO:0013536

Also known as:HMOX1D

Overview

GeneticsAutosomal recessive · HMOX1 (chr 22)

OnsetCHILDHOOD

ResearchLimited published research (6 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 always present findings: Elevated circulating aspartate aminotransferase concentration, Nephritis, Elevated platelet count (thrombocytosis), and Increased circulating interleukin 6 concentration and others. 23 total HPO annotations.

Organ System	Phenotype Count	Example Features
Lab test results	6	Elevated circulating aspartate aminotransferase concentration, Increased circulating interleukin 6 concentration, Elevated ferritin (iron storage marker) (increased circulating ferritin 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.

HMOX1 encodes heme oxygenase 1 (288 aa). Catalyzes the oxidative cleavage of heme at the alpha-methene bridge carbon, released as carbon monoxide (CO), to generate biliverdin IXalpha, while releasing the central heme iron chelate as ferrous iron. Highest expression in Spleen (895.4 TPM) and Cells Cultured fibroblasts (185.9 TPM).

Heme oxygenase 1 deficiency is strongly associated with mutations in the HMOX1 gene on chromosome 22.

The HMOX1 protein participates in Cellular response to chemical stress pathway.

HMOX1 is classified as a druggable target (Drug Resistance, Druggable Genome, and Enzyme categories) with score 5.8.

Diagnosis

Genetic testing for HMOX1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 22 always present features.

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 heme oxygenase 1 deficiency.

6 publications have been identified in PubMed for heme oxygenase 1 deficiency. Research spans Basic Science / Preclinical (100%).

Recent Publications

Alves de Souza RW (2026). [PMID: 42136106](https://pubmed.ncbi.nlm.nih.gov/42136106/). *J Cachexia Sarcopenia Muscle*. [Basic Science / Preclinical]
Rana M (2025). [PMID: 41015105](https://pubmed.ncbi.nlm.nih.gov/41015105/). *Dev Biol*. [Basic Science / Preclinical]
Chen G (2025). [PMID: 40001185](https://pubmed.ncbi.nlm.nih.gov/40001185/). *Stem Cell Res Ther*. [Basic Science / Preclinical]
Berendes LS (2025). [PMID: 40945734](https://pubmed.ncbi.nlm.nih.gov/40945734/). *J Biol Chem*. [Basic Science / Preclinical]
Patel AK (2024). [PMID: 39348688](https://pubmed.ncbi.nlm.nih.gov/39348688/). *Blood Adv*. [Basic Science / Preclinical]
Chudy P (2024). [PMID: 39047636](https://pubmed.ncbi.nlm.nih.gov/39047636/). *Redox Biol*. [Basic Science / Preclinical]

Data assembled from 7 of 12 sources · Last updated Sep 18, 2026, 3:43 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614034

Orphanet

European rare disease database

Orphanet:562509

GARD

Genetic and Rare Diseases Info Center

GARD:17995

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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heme oxygenase 1 deficiency

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

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