ORPHA:231401
Alpha-thalassemia-myelodysplastic syndrome
Synonyms: ATMDS · Acquired HbH disease · Acquired hemoglobin H disease
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adult
- Status
- active
An acquired form of alpha-thalassemia characterized by a myelodysplastic syndrome (MDS) or more rarely a myeloproliferative disease (MPD) associated with hemoglobin H disease (HbH).
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Alpha-thalassemia-myelodysplastic syndrome | ATMDS · Acquired HbH disease · Acquired hemoglobin H disease |
| fr | Syndrome d'alpha-thalassémie-syndrome myélodysplasique | ATMDS · Hémoglobinose H acquise · Maladie HbH acquise · Thalassémie alpha-syndrome myélodysplasique |
| de | Alpha-Thalassämie-myelodysplastisches Syndrom | ATMDS · HbH-Krankheit, erworbene · Hämoglobin-H-Krankheit, erworbene |
| es | Alfa-talasemia-síndrome mielodisplásico | ATMDS · Enfermedad de la HbH adquirida · Enfermedad de la hemoglobina H adquirida |
| it | Alfa talassemia - sindrome mielodisplastica | ATMDS · Emoglobinopatia H acquisita · Malattia HbH acquisita |
| nl | Alfa-thalassemie - myelodysplastisch syndroom | ATMDS · Verworven HbH-ziekte · Verworven hemoglobine H-ziekte |
| pt | Alfa-talassemia-síndrome mielodisplásica | |
| pl | Alfa-talasemia - zespół mielodysplastyczny | ATMDS · Nabyta choroba HbH · Nabyta choroba hemoglobiny H |
| cs | Alfa-talasémie s myelodysplastickým syndromem | ATMDS · Získaná HbH nemoc · Hemoglobinopatie s hemoglobinem H |
| uk | Альфа-таласемія-мієлодиспластичний синдром | Набута хвороба HbH · Набута хвороба гемоглобіну Н · ATMDS |
| zh | α-地中海贫血-骨髓增生异常综合征 | 获得性血红蛋白H病 |
| tr | Alfa-talasemi-miyelodisplastik sendrom | ATMDS · Edinsel HbH hastalığı · Edinsel hemoglobin H hastalığı |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300448 | E | validated | |
| ICD-10 | D46.7 | NTBT | attributed | validated |
| ICD-10 | D56.0 | NTBT | attributed | validated |
| ICD-11 | 3A50.0Y | NTBT | index | validated |
| MONDO | 0010328 | E | validated | |
| MeSH | C563023 | E | validated | |
| UMLS | C0585216 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:232288Syndrome with alpha-thalassemia as a major feature
rare genetic diseases; rare hematological diseases; rare transplant-related disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ATRX | Disease-causing somatic mutation(s) in | Assessed | HGNC:886 | ENSG00000085224 | 300032 | Xq21.1 | ATRX chromatin remodeler |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 80 cases | Worldwide | Case(s) | Validated | [EXPERT] | |
| Point prevalence | <1 / 1 000 000 | — | 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.
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HPO phenotypes
12 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001875 | Decreased total neutrophil count | |
| HP:0012378 | Fatigue | |
| HP:0011903 | HbH hemoglobin | |
| HP:0001935 | Microcytic anemia | |
| HP:0001873 | Thrombocytopenia | |
| Frequent (79-30%) | ||
| HP:0001892 | Abnormal bleeding | |
| HP:0000978 | Bruising susceptibility | |
| HP:0002094 | Dyspnea | |
| Occasional (29-5%) | ||
| HP:0002488 | Acute leukemia | |
| HP:0002721 | Immunodeficiency | |
| HP:0002863 | Myelodysplasia | |
| HP:0001744 | Splenomegaly | |
Run the differential on the 5 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/231401
- This record as JSON: /data/d/231401.json