ORPHA:715157
Low oxygen affinity beta chain hemoglobin disease
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Low oxygen affinity beta chain hemoglobin disease | |
| fr | Anémie par hémoglobine hypoaffine bêta | |
| de | Beta-Ketten-Hämoglobin-Krankheit mit geringer Sauerstoffaffinität | |
| es | Enfermedad de la hemoglobina de cadena beta con baja afinidad por el oxígeno | |
| it | Emoglobinopatia con catena beta a bassa affinità per l'ossigeno | |
| nl | Aandoening door bèta-hemoglobine met lage affiniteit voor zuurstof | |
| pt | Low oxygen affinity beta chain hemoglobin disease | |
| pl | Hemoglobinopatia łańcucha beta z niskim powinowactwem do tlenu | |
| cs | Low oxygen affinity beta chain hemoglobin disease |
2
Cross-references
qualifier = Orphanet mapping relationNo cross-references in this release.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:715147Low oxygen affinity hemoglobin disease
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 | 28066926[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
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/715157
- This record as JSON: /data/d/715157.json