Low oxygen affinity gamma chain hemoglobin disease
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
Hemoglobinopathy Toms River is a rare, genetic hemoglobinopathy disorder, due to a defect in the gamma subunit of the fetal hemoglobin, characterized by neonatal cyanosis, low hemoglobin oxygen saturation levels without arterial hypoxemia, moderate anemia and reticulocytosis, not associated with heart or lung disease. Symptoms progressively subside within the first months of life.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Low oxygen affinity gamma chain hemoglobin disease | |
| fr | Anémie par hémoglobine hypoaffine gamma | |
| de | Gamma-Globinketten-Hämoglobinopathie mit niedriger Sauerstoffaffinität | |
| es | Enfermedad de la hemoglobina de cadena gamma con baja afinidad por el oxígeno | |
| it | Malattia da catena gamma dellemoglobina a bassa affinità per l'ossigeno | |
| nl | Aandoening door gamma-hemoglobine met lage affiniteit voor zuurstof | Hemoglobinopathie van Toms River · Toms River-hemoglobinopathie · Voorbijgaande neonatale cyanose en anemie door Toms River-hemoglobine |
| pt | Doença da hemoglobina da cadeia gama com baixa afinidade pelo oxigénio | Cianose neonatal transitória e anemia por hemoglobina Toms River |
| pl | Hemoglobinopatia łańcuchów gamma o niskim powinowactwie do tlenu | Przejściowa sinica i niedokrwistość noworodkowa z powodu hemoglobiny Toms River |
| cs | Hemoglobinopatie Toms River | Přechodná neonatální cyanóza s anémií způsobená Toms River hemoglobinem |
| uk | Гемоглобінопатія Томс Рівер | Транзиторний неонатальний ціаноз та анемія через гемоглобін Томс Рівер |
| zh | Toms River血红蛋白病 | Toms River血红蛋白所致一过性新生儿紫癜和贫血 |
| tr | Hemoglobinopati Toms River | Toms River Hemoglobine bağlı geçici yenidoğan siyanoz ve anemiye |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613977 | NTBT | not yet validated | |
| ICD-10 | D58.2 | NTBT | attributed | validated |
| ICD-11 | 3A50.4 | NTBT | attributed | validated |
| MONDO | 0017238 | E | validated | |
| UMLS | C5190689 | 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:715147Low oxygen affinity hemoglobin 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 |
|---|---|---|---|---|---|---|---|---|
| HBG2 | Disease-causing germline mutation(s) in | Assessed | HGNC:4832 | ENSG00000196565 | 142250 | 11p15.4 | hemoglobin subunit gamma 2 | 21561349[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
| Cases/families | 10 cases | Worldwide | Case(s) | Validated | 21561349[PMID] |
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/280615
- This record as JSON: /data/d/280615.json