HEME OXYGENASE 1 DEFICIENCY
General Information (adopted from Orphanet):
| Synonyms, Signs: |
HMOX1D |
| Number of Symptoms | 6 |
| OrphanetNr: | |
| OMIM Id: |
614034
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| ICD-10: |
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| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive inheritance [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0000790) | Hematuria | 106 / 7739 | ||||
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(HPO:0000093) | Proteinuria | 169 / 7739 | ||||
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(HPO:0002240) | Hepatomegaly | 467 / 7739 | ||||
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(HPO:0001510) | Growth delay | 295 / 7739 | ||||
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(HPO:0001878) | Hemolytic anemia | 83 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Yachie et al. (1999) reported the first human case of heme oxygenase-1 deficiency. The patient was 26 months old when he was first brought for medical care because of recurrent fever and generalized erythematous rash. Growth retardation was ... |
| Molecular genetics OMIM |
By sequence analysis of the HMOX1 gene in a patient with heme oxygenase-1 deficiency, Yachie et al. (1999) identified complete loss of exon 2 on the maternal allele (141250.0001) and a 2-nucleotide deletion in exon 3 on the ... |