ORPHA:715143
Heterozygous beta-thalassemia intermedia with supernumerary alpha-globin gene
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Heterozygous beta-thalassemia intermedia with supernumerary alpha-globin gene | |
| fr | Bêta-thalassémie intermédiaire hétérozygote avec gènes alpha-globine surnuméraires | |
| de | Heterozygote Beta-Thalassämie intermedia mit überzähligem Alpha-Globin-Gen | |
| es | Beta-talasemia intermedia heterocigótica con gen supernumerario de globina alfa | |
| it | Beta talassemia intermedia eterozigote con un gene dellalfa-globina soprannumerario | |
| nl | Heterozygote bètathalassemie intermedia met surnumerair alfa-globinegen | |
| pt | Heterozygous beta-thalassemia intermedia with supernumerary alpha-globin gene | |
| pl | Heterozygotyczna beta-talasemia pośrednia z nadliczbowym genem alfa-globiny | |
| cs | Heterozygous beta-thalassemia intermedia with supernumerary alpha-globin gene |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | D56.1 | NTBT | attributed | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:848Beta-thalassemia
rare genetic diseases; rare renal diseases; rare endocrine diseases; rare hematological diseases; rare transplant-related disorders
No children.
4
Genes
3 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 | 18249014[PMID]_25690803[PMID]_34434372[PMID] |
| HBA1 | Role in the phenotype of | Assessed | HGNC:4823 | ENSG00000206172 | 141800 | 16p13.3 | hemoglobin subunit alpha 1 | 18249014[PMID]_25690803[PMID]_34434372[PMID] |
| HBA2 | Role in the phenotype of | Assessed | HGNC:4824 | ENSG00000188536 | 141850 | 16p13.3 | hemoglobin subunit alpha 2 | 18249014[PMID]_25690803[PMID]_34434372[PMID] |
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | 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.
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/715143
- This record as JSON: /data/d/715143.json