Sickle cell S-D Punjab disease
Synonyms: HbSD disease · Hemoglobin S-D Punjab disease · Sickle cell-hemoglobin D disease
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- All ages
- Status
- active
A rare, genetic hemoglobinopathy characterized by all the characteristics of sickle cell anemia (SCA). Clinical course is similar to SCA, including acute episodes of pain, splenic infarction and splenic sequestration crisis, vaso-occlusive crisis, acute chest syndrome, ischemic brain injury, osteomyelitis and avascular bone necrosis. The genotype is characterized by an HbS allele in combination with the HbD variant, beta121Glu>Gln.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Sickle cell S-D Punjab disease | HbSD disease · Hemoglobin S-D Punjab disease · Sickle cell-hemoglobin D disease |
| fr | Drépanocytose S-D Punjab | Drépanocytose-hémoglobine D Punjab · Drépanocytose-hémoglobinose D · HbSD |
| de | Sichelzellkrankheit S-D Punjab | HbSD-Krankheit · Hämoglobin D-Punjab-Kankheit · Sichelzellkrankheit HbSD |
| es | Anemia falciforme S-D Punjab | Enfermedad de la hemoglobina S-D Punjab · Anemia de células falciformes S-D Punjab · Anemia de células falciformes-hemoglobina D · Anemia falciforme-hemoglobina D · Enfermedad HbSD |
| it | Sindrome anemia a cellule falciformi-emoglobinopatia D | |
| nl | Sikkelcelziekte S-D Punjab | HbSD-ziekte · Hemoglobine S-D Punjab-ziekte · Sikkelcel-hemoglobine D-ziekte |
| pt | Anemia falciforme S-D Punjab | Anemia falciforme hemoglobina D · Doença HbSD · Doença hemoglobina S-D Punjab |
| pl | Niedokrwistość sierpowata - choroba hemoglobiny D | Choroba HbSD |
| cs | Syndrom srpkovité anémie a onemocnění hemoglobinu D | HbSD onemocnění |
| uk | Синдром серповидноклітинної анемії з гемоглобіном D | Захворювання HbSD |
| zh | 镰状细胞血红蛋白D病综合征 | HbSD病 |
| tr | Orak hücre-hemoglobin D hastalığı sendromu | HbSD 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 | index | validated |
| MONDO | 0016670 | E | validated | |
| UMLS | C0272084 | E | validated | |
| GARD | 12458 | E | validated | |
| MedDRA | 10056724 | 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: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.
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/251370
- This record as JSON: /data/d/251370.json