ORPHA:700111
Homozygous hemoglobin O Arab disease
Synonyms: Homozygous O Arab hemoglobinopathy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Orphadata ships no English definition for this code.
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Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Homozygous hemoglobin O Arab disease | Homozygous O Arab hemoglobinopathy |
| fr | Hémoglobinose O Arab homozygote | |
| de | Homozygotes Hämoglobin O Arab | HbSO, homozygot |
| es | Enfermedad homocigota de la hemoglobina O-árabe | Hemoglobinopatía homocigótica O-árabe |
| it | Emoglobina omozigote O malattia Araba | Emoglobinopatia omozigote O Araba |
| nl | Ziekte door homozygote hemoglobine O-Arab | Homozygote O-Arab hemoglobinopathie |
| pt | Homozygous hemoglobin O Arab disease | |
| pl | Homozygous hemoglobin O Arab disease | = en |
| cs | Homozygous hemoglobin O Arab disease | = en |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | D58.2 | NTBT | attributed | validated |
| ICD-11 | 3A51.9 | E | specific | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:466066Genetic hemoglobinopathy
rare genetic diseases - ORPHA:68364Hemoglobinopathy
rare hematological diseases; rare transplant-related disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HBB | Disease-causing germline mutation(s) in | Assessed | HGNC:4827 | ENSG00000244734 | 141900 | 11p15.4 | hemoglobin subunit beta | 23192960[PMID]_37554704[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 20 cases | Worldwide | Case(s) | Validated | 18254282[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 18254282[PMID]_ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/700111
- This record as JSON: /data/d/700111.json