ORPHA:700090
Sickle cell S-O Arab disease
Synonyms: HbS-O Arab disease · Hemoglobin S-O Arab disease
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Sickle cell S-O Arab disease | HbS-O Arab disease · Hemoglobin S-O Arab disease |
| fr | Drépanocytose S-O Arab | Hémoglobinose S-O Arab |
| de | Sichelzellkrankheit S-Arab | HbSOArab · Hämoglobin S-O Arab · SCD-S/OArab |
| es | Anemia falciforme SO-árabe | Anemia HbSO-árabe · Anemia de células falciformes SO-árabe · Enfermedad de la hemoglobina SO-árabe |
| it | Falcemia S-O araba | Malattia HbS-O araba · Malattia correlata allemoglobina S-O araba |
| nl | Sikkelcelziekte door HbS-O-Arab | Sikkelcelziekte door hemoglobine S-O-Arab |
| pt | Sickle cell S-O Arab disease | |
| pl | Sickle cell S-O Arab disease | = en |
| cs | Sickle cell S-O Arab disease | = en |
2
Cross-references
qualifier = Orphanet mapping relationNo cross-references in this release.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:700085Sickle cell disease due to hemoglobin S and a non-S/non-C hemoglobin variant
rare genetic diseases; rare hematological diseases; rare transplant-related disorders
No children.
4
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 | 32595482[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/700090
- This record as JSON: /data/d/700090.json