ORPHA:699822
Sickle cell S-Lepore disease
Synonyms: HbS-Lepore disease · Hemoglobin S-Lepore disease
- Type
- Clinical subtype
- Group
- Subtype of disorder
- 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-Lepore disease | HbS-Lepore disease · Hemoglobin S-Lepore disease |
| fr | Drépanocytose S-Lepore | Hémoglobinose S-Lepore |
| de | Sichelzellkrankheit S-Lepore | HbSLepore · Hämoglobin S-Lepore · SCD-S/Lepore |
| es | Enfermedad falciforme S-Lepore | Enfermedad de HbS-Lepore · Enfermedad de células falciformes S-Lepore · Enfermedad de la hemoglobina S-Lepore |
| it | Falcemia S-Lepore | Malattia HbS-Lepore · Emoglobinopatia S-Lepore |
| nl | Sikkelcel S-Lepore-ziekte | HbS-Lepore-ziekte · Hemoglobine S-Lepore-ziekte |
| pt | Sickle cell S-Lepore disease | |
| pl | Sickle cell S-Lepore disease | = en |
| cs | Sickle cell S-Lepore disease | = en |
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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.
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Genes
2 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 | 34334973[PMID]_20022270[PMID] |
| HBD | Disease-causing germline mutation(s) in | Assessed | HGNC:4829 | ENSG00000223609 | 142000 | 11p15.4 | hemoglobin subunit delta | 34334973[PMID]_20022270[PMID] |
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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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/699822
- This record as JSON: /data/d/699822.json