heme oxygenase 1 deficiency
MONDO:0013536Mondo
Findings
No curated finding names heme oxygenase 1 deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
40 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AspleniaHPOHP:0001746
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Cervical lymphadenopathyHPOHP:0025289
- 1 of 1 reported patient
- ChemosisHPOHP:0012375
- 1 of 1 reported patient
- Coombs-positive hemolytic anemiaHPOHP:0004844
- 1 of 1 reported patient
- Diffuse alveolar hemorrhageHPOHP:0025420
- 1 of 1 reported patient
- Elevated circulating alanine aminotransferase concentrationHPOHP:0031964
- 1 of 1 reported patient
- Elevated circulating aspartate aminotransferase concentrationHPOHP:0031956
- 1 of 1 reported patient
- Elevated circulating C-reactive protein concentrationHPOHP:0011227
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- EpistaxisHPOHP:0000421
- 1 of 1 reported patient
- Growth delayHPOHP:0001510
- 1 of 1 reported patient · Childhood onset
- Frequent (30% to 79% of cases)
- HematuriaHPOHP:0000790
- 2 of 2 reported patients
- Hemolytic anemiaHPOHP:0001878
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
Show the remaining 28
- HepatomegalyHPOHP:0002240
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- HypertensionHPOHP:0000822
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Increased circulating ferritin concentrationHPOHP:0003281
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Increased circulating interleukin 6 concentrationHPOHP:0030783
- 1 of 1 reported patient
- Increased circulating lactate dehydrogenase concentrationHPOHP:0025435
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Lymphadenopathy
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- HMOX1HGNC:5013
- Strong · ClinGen · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
1 name
Resolves to: heme oxygenase 1 deficiency
- Also called
- heme oxygenase-1 deficiency