Heme oxygenase-1 deficiency
Synonyms: HO-1 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Childhood
- Status
- active
A rare inborn error of metabolism characterized by congenital asplenia and childhood or adolescent onset of generalized inflammation, persistent intravascular hemolysis and anemia, severe endothelial injury with abnormal coagulation, bleeding diathesis, and nephropathy. Additional reported manifestations include growth retardation, mild facial dysmorphism, and hepatomegaly.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Heme oxygenase-1 deficiency | HO-1 deficiency |
| fr | Déficit en hème oxygénase-1 | Déficit en HO-1 |
| de | Hämoxygenase 1-Mangel | HO-1-Defizienz |
| es | Deficiencia de hemo oxigenasa 1 | Deficiencia de HO-1 |
| it | Deficit di eme ossigenasi-1 | Deficit di HO-1 |
| nl | Heem-oxygenase-1-deficiëntie | HO-1-deficiëntie |
| pt | Deficiência de heme oxigenase-1 | |
| pl | Niedobór oksygenazy hemowej-1 | = en |
| cs | Deficit hem oxygenázy-1 | = en |
| uk | Дефіцит гемоксигенази-1 | Дефіцит HO-1 |
| zh | 血红素加氧酶-1缺乏症 | = en |
| tr | Hem oksijenaz-1 eksikliği | HO-1 eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614034 | E | validated | |
| ICD-10 | E88.8 | NTBT | attributed | validated |
| ICD-11 | 5C58.Y | NTBT | attributed | validated |
| MONDO | 0013536 | E | validated | |
| MeSH | C564200 | E | validated | |
| UMLS | C1841651 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:309813Disorder of porphyrin and heme metabolism
rare inborn errors of metabolism; rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HMOX1 | Disease-causing germline mutation(s) in | Assessed | HGNC:5013 | ENSG00000100292 | 141250 | 22q12.3 | heme oxygenase 1 | 31216709[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 9884342[PMID]_21088618[PMID]_22023467[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_22023467[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
28 annotations · validated 2026-01-19| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001878 | Hemolytic anemia | |
| HP:0002240 | Hepatomegaly | |
| HP:0033480 | Hypobilirubinemia | |
| HP:0003281 | Increased circulating ferritin concentration | |
| HP:0001954 | Recurrent fever | |
| Frequent (79-30%) | ||
| HP:0001903 | Anemia | |
| HP:0001746 | Asplenia | |
| HP:0011227 | Elevated circulating C-reactive protein concentration | |
| HP:0033106 | Elevated circulating D-dimer concentration | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0020180 | Elevated haptoglobin level | |
| HP:0001510 | Growth delay | |
| HP:0003077 | Hyperlipidemia | |
| HP:0000822 | Hypertension | |
| HP:0011900 | Hypofibrinogenemia | |
| HP:0025435 | Increased circulating lactate dehydrogenase concentration | |
| HP:0001974 | Increased total leukocyte count | |
| HP:0000093 | Proteinuria | |
| HP:0001894 | Thrombocytosis | |
| Occasional (29-5%) | ||
| HP:0006530 | Abnormal pulmonary interstitial morphology | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0002007 | Frontal bossing | |
| HP:0032550 | Howell-Jolly bodies | |
| HP:0006270 | Hypoplastic spleen | |
| HP:0002170 | Intracranial hemorrhage | |
| HP:0000123 | Nephritis | |
| HP:0002878 | Respiratory failure | |
| HP:0001981 | Schistocytosis | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 38178812[PMID]_38178812[PMID]_33546372[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/562509
- This record as JSON: /data/d/562509.json