Hemoglobin M disease
Synonyms: Autosomal dominant methemoglobinemia · M hemoglobinopathy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- No data available
- Status
- active
A rare hemoglobinopathy characterized by the presence of hemoglobin variants with structural abnormalities in the globin portion of the molecule which lead to auto-oxidation of heme iron, resulting in methemoglobinemia. Patients present with cyanosis for which no treatment is necessary. Mode of inheritance is autosomal dominant.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hemoglobin M disease | Autosomal dominant methemoglobinemia · M hemoglobinopathy |
| fr | Hémoglobinose M | Hémoglobinopathie M · Méthémoglobinémie autosomique dominante |
| de | Hämoglobin-M-Krankheit | Hämoglobinopathie M · Methämoglobinämie, autosomal-dominante |
| es | Enfermedad de la hemoglobina M | Hemoglobinopatía M · Metahemoglobinemia autosómica dominante |
| it | Emoglobinopatia M | Metaemoglobinemia autosomica dominante · Emoglobinopatia M |
| nl | Hemoglobine M-ziekte | Autosomaal dominante methemoglobinemie · M hemoglobinopathie |
| pt | Metahemoglobinémia autossómica dominante | Hemoglobinopatia M |
| pl | Autosomalna dominująca methemoglobinemia | Choroba hemoglobiy M · Dziedziczna methemoglobinemia z powodu mutacji hemoglobiny · Hemoglobinopatia M |
| cs | Autozomálně dominantní methemoglobinemie | Nemoc M hemoglobinu · M hemoglobinopatie · Dědičná methemoglobinemie způsobená vrozenou mutací hemoglobinu |
| uk | Захворювання гемоглобіну М | М-гемоглобінопатія |
| zh | 血红蛋白-M病 | M型血红蛋白病 |
| tr | Hemoglobin M hastalığı | M hemoglobinopati |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617971 | BTNT | validated | |
| OMIM | 617973 | BTNT | validated | |
| ICD-10 | D74.0 | NTBT | attributed | validated |
| ICD-11 | 3A92 | E | specific | validated |
| MONDO | 0018023 | E | validated | |
| MeSH | C581942 | E | validated | |
| UMLS | C3665425 | E | validated | |
| GARD | 13007 | 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 (2):
- ORPHA:707993Methemoglobinemia-related cyanosis
rare hematological diseases - ORPHA:158300Rare genetic hematologic disease
rare genetic diseases
No children.
Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HBA1 | Disease-causing germline mutation(s) in | Assessed | HGNC:4823 | ENSG00000206172 | 141800 | 16p13.3 | hemoglobin subunit alpha 1 | 8416301[PMID]_3026948[PMID] |
| HBA2 | Disease-causing germline mutation(s) in | Assessed | HGNC:4824 | ENSG00000188536 | 141850 | 16p13.3 | hemoglobin subunit alpha 2 | 8416301[PMID]_25031065[PMID] |
| HBB | Disease-causing germline mutation(s) in | Assessed | HGNC:4827 | ENSG00000244734 | 141900 | 11p15.4 | hemoglobin subunit beta | 8416301[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/330041
- This record as JSON: /data/d/330041.json