ORPHA:52688

Myelodysplastic syndrome

Type: Clinical group
Group: Group of disorders
Age of onset: All ages
Status: active

A group of myeloid hemopathies characterized by blood cytopenias, marrow dysplasia and a high risk of progression to acute myeloid leukemia (AML).

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Myelodysplastic syndrome
fr	Syndrome myélodysplasique
de	Myelodysplastische Syndrome
es	Síndrome mielodisplásico
it	Sindrome mielodisplastica
nl	Myelodysplastisch syndroom
pt	Síndromes mielodisplásicos
pl	Zespół mielodysplastyczny
cs	Myelodysplastický syndrom
uk	Мієлодиспластичний синдром
zh	骨髓增生异常综合征
tr	Miyelodisplastik sendrom

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	Validation
OMIM	614286	E	validated
MONDO	0018881	E	validated
MONDO	18881	E	validated
MeSH	D009190	E	validated
UMLS	C3463824	E	validated
GARD	7132	E	validated
MedDRA	10028532	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):

ORPHA:250908Rare neoplastic disease

Parents in the classifications (1):

ORPHA:171895Myeloid hemopathy
rare hematological diseases; rare neoplastic diseases; rare transplant-related disorders

Children (6):

Codes that Orphanet moved or referred to this one:

ORPHA:101096OBSOLETE: Aregenerative anemia referred to · inactive

Genes

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
TP53	Major susceptibility factor in	Assessed	HGNC:11998	ENSG00000141510	191170	17p13.1	tumor protein p53	32747829[PMID]

Prevalence and incidence

17 records

Type	Class	Value	Area	Qualification	Validation	Source
Annual incidence	1-9 / 100 000	1.5 / 100 000	Europe	Value and class	Validated	RARECARE surveillance of rare cancers in Europe[OTHER]
Lifetime Prevalence	1-9 / 100 000	5.02 / 100 000	Europe	Value and class	Validated	22033323[PMID]_RARECARE surveillance of rare cancers in Europe[OTHER]
Annual incidence	1-9 / 100 000	4.15 / 100 000	Germany	Value and class	Validated	21708407[PMID]
Point prevalence	1-9 / 100 000	7 / 100 000	Germany	Value and class	Validated	21708407[PMID]
Annual incidence	1-9 / 100 000	6.4 / 100 000	France	Value and class	Validated	OTHERitut National du Cancer 2013[OTHER]
Point prevalence	1-9 / 100 000	1.35 / 100 000	Japan	Value and class	Not yet validated	7718765[PMID]
Annual incidence	1-9 / 100 000	3.35 / 100 000	United States	Value and class	Validated	18443215[PMID]_17345612[PMID]_National Cancer OTHERitute[OTHER]_ORPHANET
Annual incidence	1-9 / 100 000	5.4 / 100 000	Greece	Value and class	Not yet validated	23572136[PMID]
Annual incidence	1-9 / 100 000	8.5 / 100 000	United Kingdom	Value and class	Not yet validated	7986716[PMID]_7819118[PMID]_ ORPHANET
Annual incidence	1-9 / 100 000	3.5 / 100 000	Sweden	Value and class	Not yet validated	7720834[PMID]
Annual incidence	1-9 / 1 000 000	0.5 / 100 000	Romania	Value and class	Validated	19411107[PMID]
Annual incidence	1-9 / 100 000	8.1 / 100 000	Spain	Value and class	Validated	14555322[PMID]
Point prevalence	1-5 / 10 000	15 / 100 000	United States	Value and class	Not yet validated	emedicine 2009[OTHER]
Point prevalence	1-9 / 100 000	—	Europe	Class only	Not yet validated	ORPHANET
Annual incidence	1-9 / 100 000	1.95 / 100 000	Poland	Value and class	Validated	27699872[PMID]
Point prevalence	1-9 / 100 000	6.2 / 100 000	Poland	Value and class	Validated	27699872[PMID]
Annual incidence	1-9 / 100 000	3.8 / 100 000	Switzerland	Value and class	Validated	28056392[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/52688
This record as JSON: /data/d/52688.json