ORPHA:715147
Low oxygen affinity hemoglobin disease
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- 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 hemoglobin disease | |
| fr | Anémie par hémoglobine hypoaffine | |
| de | Hämoglobin-Krankheit mit verringerter Sauerstoffaffinität | |
| es | Enfermedad de la hemoglobina con baja afinidad por el oxígeno | |
| it | Emoglobinopatia a bassa affinità per l'ossigeno | |
| nl | Aandoening door hemoglobine met lage affiniteit voor zuurstof | |
| pt | Low oxygen affinity hemoglobin disease | |
| pl | Hemoglobinopatia z niskim powinowactwem do tlenu | |
| cs | Low oxygen affinity hemoglobin disease |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | D58.2 | 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 (2):
- ORPHA:466066Genetic hemoglobinopathy
rare genetic diseases - ORPHA:68364Hemoglobinopathy
rare hematological diseases; rare transplant-related disorders
4
Genes
0 direct · 3 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| HBA2 | ORPHA:715154Low oxygen affinity alpha chain hemoglobin disease | Disease-causing germline mutation(s) in | Assessed | HGNC:4824 | ENSG00000188536 | 141850 | 16p13.3 | hemoglobin subunit alpha 2 | 32411491[PMID]_11134494[PMID] |
| HBB | ORPHA:715157Low oxygen affinity beta chain hemoglobin disease | Disease-causing germline mutation(s) in | Assessed | HGNC:4827 | ENSG00000244734 | 141900 | 11p15.4 | hemoglobin subunit beta | 28066926[PMID] |
| HBG2 | ORPHA:280615Low oxygen affinity gamma chain hemoglobin disease | Disease-causing germline mutation(s) in | Assessed | HGNC:4832 | ENSG00000196565 | 142250 | 11p15.4 | hemoglobin subunit gamma 2 | 21561349[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/715147
- This record as JSON: /data/d/715147.json