ORPHA:700107
Sickle cell S-other specified hemoglobin variant
Synonyms: HbS-other specified hemoglobin variant disease
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Age of onset
- Antenatal, 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 | Sickle cell S-other specified hemoglobin variant | HbS-other specified hemoglobin variant disease |
| fr | Drépanocytose S-autre variant spécifié d'hémoglobine | |
| de | Sichelzellkrankheit mit anderen Hämoglobinvarianten | HbS-andere näher bezeichnete Hämoglobinvariante |
| es | Anemia falciforme HbS-otra variante de hemoglobina especificada | Anemia de células falciformes HbS-otra variante de hemoglobina especificada · Enfermedad de Hbs-otra variante de hemoglonina especificada |
| it | Falcemia S-altra mutazione specifica dell'emoglobina | HbS-altra mutazione specifica dell'emoglobina |
| nl | Sikkelcelziekte door HbS-andere gespecifieerde hemoglobinevariant | |
| pt | Sickle cell S-other specified hemoglobin variant | |
| pl | Sickle cell S-other specified hemoglobin variant | = en |
| cs | Sickle cell S-other specified hemoglobin variant | = en |
2
Cross-references
qualifier = Orphanet mapping relationNo cross-references in this release.
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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 | 23388674[PMID]_34113458[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 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/700107
- This record as JSON: /data/d/700107.json