Sickle cell S-C disease
Synonyms: HbSC disease · Hemoglobin S-C disease · Sickle cell-hemoglobin C disease
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- All ages
- Status
- active
A rare, genetic hemoglobinopathy characterized by anemia, reticulocytosis and erythrocyte abnormalities including target cells, irreversibly sickled cells and crystal-containing cells. Clinical course is similar to sickle cell disease, but less severe and with less complications. Signs and symptoms may include acute episodes of pain, splenic infarction and splenic sequestration crisis, acute chest syndrome, focal segmental glomerulosclerosis, ischemic brain injury, peripheral retinopathy, and osteonecrosis.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Sickle cell S-C disease | HbSC disease · Hemoglobin S-C disease · Sickle cell-hemoglobin C disease |
| fr | Drépanocytose SC | Drépanocytose-hémoglobine C · HbSC |
| de | Sichelzellkrankheit HbSC | HbSC-Krankheit · Hämoglobin S-C-Krankheit |
| es | Anemia falciforme S-C | Anemia de células falciformes S-C · Anemia de células falciformes-hemoglobina C · Anemia falciforme-hemoglobina C · Enfermedad HbSC · Enfermedad de la hemoglobina S-C |
| it | Drepanocitosi e emoglobinopatia C | HbSC |
| nl | Sikkelcelziekte S-C | HbSC-ziekte · Hemoglobine S-C-ziekte · Sikkelcel-hemoglobine C-ziekte |
| pt | Anemia falciforme S-C | Anemia falciforme hemoglobina C · Doença HbSC · Doença hemoglobina S-C |
| pl | Niedokrwistość sierpowata - choroba hemoglobiny C | Choroba HbSC |
| cs | Syndrom srpkovité anémie a onemocnění hemoglobinu C | HbSC onemocnění |
| uk | Синдром серповидноклітинної анемії з гемоглобіном С | Захворювання HbSC |
| zh | 镰状细胞血红蛋白C病综合征 | HbSC病 |
| tr | Orak hücre-hemoglobin C hastalığı sendromu | HbSC hastalığı |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | D57.2 | NTBT | inclusion | validated |
| ICD-11 | 3A51.3 | NTBT | attributed | validated |
| ICD-11 | 3A51.4 | NTBT | attributed | validated |
| MONDO | 0016669 | E | validated | |
| MeSH | D006450 | E | validated | |
| UMLS | C0019034 | E | validated | |
| GARD | 6584 | E | validated | |
| MedDRA | 10057072 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:275752Sickle cell disease
rare genetic diseases; rare hematological diseases; rare transplant-related disorders
No children.
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 | 20301551[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/251365
- This record as JSON: /data/d/251365.json