Transient myeloproliferative syndrome
Synonyms: Transient myeloproliferative disease · TMD · Transient abnormal myelopoiesis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare hematologic disease characterized by clinical and morphological findings indistinguishable from those of acute myeloid leukemia, typically occurring in newborns with Down syndrome. Peripheral blood and bone marrow blasts display features suggestive of megakaryoblasts. In addition to trisomy 21, acquired GATA1 mutations are present in blast cells. Patients may be asymptomatic or present with thrombocytopenia, less commonly other cytopenias, leukocytosis, hepatosplenomegaly, jaundice, ascites, respiratory distress, bleeding, and pericardial or pleural effusions. Most patients undergo spontaneous remission within the first three months of life, although some may develop life-threatening hepatic, renal, or cardiac complications.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Transient myeloproliferative syndrome | Transient myeloproliferative disease · TMD · Transient abnormal myelopoiesis |
| fr | Syndrome myéloprolifératif transitoire | MMT · Maladie myéloproliférative transitoire · Myélopoïèse transitoire anormale · TMD |
| de | Transientes myeloproliferatives Syndrom | TMD · Transiente abnormale Myelopoese · Transiente myeloproliferative Krankheit |
| es | Síndrome mieloproliferativo transitorio | Enfermedad mieloproliferativa transitoria · Mielopoyesis anómala transitoria · SMT |
| it | Sindrome mieloproliferativa transitoria | Malattia mieloproliferativa transitoria · Mielopoiesi anomala transitoria · TMD |
| nl | Voorbijgaand myeloproliferatief syndroom | TMD · Voorbijgaande abnormale myelopoëse · Voorbijgaande myeloproliferatieve ziekte |
| pt | Síndrome meloproliferativo transitório | |
| pl | Przejściowy zespół mieloproliferacyjny | Przejściowa choroba mieloproliferacyjna · Przejściowa nieprawidłowa mielopoeza · TMD |
| cs | Tranzientní myeloproliferativní syndrom | TMD · Tranzientní abnormální myelopoéza · Tranzientní myeloproliferativní choroba |
| uk | Транзиторний мієлопроліферативний синдром | TMD · Транзиторний аномальний мієлопоез · Транзиторна мієлопроліферативна хвороба |
| zh | 一过性骨髓增生综合征 | 一过性骨髓增生性疾病 |
| tr | Geçici miyeloproliferatif sendrom | TMD · Geçici anormal miyelopoezis · Geçici miyeloproliferatif hastalık |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 159595 | E | validated | |
| ICD-10 | D47.1 | NTBT | attributed | validated |
| ICD-11 | 2A60.40 | E | specific | validated |
| MONDO | 0008040 | E | validated | |
| MeSH | C563551 | E | validated | |
| UMLS | C1834582 | E | validated | |
| GARD | 12765 | 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:98274Myeloproliferative neoplasm
rare hematological diseases; rare neoplastic diseases; rare transplant-related disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GATA1 | Disease-causing somatic mutation(s) in | Assessed | HGNC:4170 | ENSG00000102145 | 305371 | Xp11.23 | GATA binding protein 1 | 14636651[PMID] |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/420611
- This record as JSON: /data/d/420611.json