ORPHA:284343

DICER1 tumor-predisposition syndrome

Synonyms: PPB familial tumor and dysplasia syndrome · PPBFTDS · Pleuropulmonary blastoma familial tumor and dysplasia syndrome

Type: Disease
Group: Disorder
Inheritance: Autosomal dominant
Age of onset: Adolescent, Adult, Childhood
Status: active

Orphadata ships no English definition for this code.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	DICER1 tumor-predisposition syndrome	PPB familial tumor and dysplasia syndrome · PPBFTDS · Pleuropulmonary blastoma familial tumor and dysplasia syndrome
fr	Syndrome DICER1 de prédisposition aux tumeurs	PPBFTDS · Syndrome du blastome pleuropulmonaire de susceptibilité familiale aux tumeurs et dysplasies
de	DICER1-Tumorprädispositionssyndrom	DICER1-Syndrom · DICER1-assoziiertes Tumorsyndrom · PPB-Tumor-Syndrom, familiäres · PPBFTDS · Prädisposition für die familiäre Form des Pleuropulmonalen Blastom-Syndroms
es	Síndrome de predisposición tumoral familiar al blastoma pleuropulmonar	PPBFTDS · Síndrome DICER1 · Síndrome de predisposición tumoral familar al BPP
it	Sindrome DICER1 da predisposizione ai tumori	PPBFTDS · Sindrome da BPP familiare e displasia · Sindrome da blastoma pleuro-polmonare familiare e displasia
nl	DICER1-tumorpredispositiesyndroom	PPB familiale tumor en dysplasie-syndroom · PPBFTDS · Pleuropulmonaal blastoom familiale tumor en dysplasie-syndroom
pt	Síndrome de predisposição tumoral DICER1	PPBFTDS · Síndrome de displasia e blastoma pleuropulmonar familiar · Síndrome de displasia e tumor familiar PPB
pl	Rodzinny zespół podatności na blastoma opłucnej i płuc	PPBFTDS · Rodzinny zespół podatności na pleuropulmonary blastoma · Rodzinny zespół podatności na PPB · Zespół DICER1 · Zespół predyspozycji do nowotworów związany z DICER1
cs	Syndrom predispozice k nádorům z rodiny pleuropulmonálních blastomů	Syndrom DICER1 · PPBFTDS · Syndrom predispozice k nádorům z rodiny PPB · Syndrom predispozice k nádorům z rodiny pleuro-pulmonálních blastomů
uk	Синдром схильності до пухлин DICER1	Сімейна пухлина та синдром дисплазії плевропульмональної бластоми · Синдром сімейної пухлини та дисплазії PPB · PPBFTDS
zh	胸肺母细胞瘤家族性肿瘤易感综合征	PPB家族性肿瘤易感综合征
tr	Plöropulmoner blastom ailesel tümör duyarlılık sendromu	Pleuro-pulmoner blastom ailesel tümör duyarlılık sendromu · PPBFTDS · DICER1 sendromu · PPB ailesel tümör duyarlılık sendromu

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	601200	NTBT		validated
ICD-10	C34.8	NTBT	attributed	not yet validated
MONDO	0100216	E		validated
UMLS	C3839822	E		validated
GARD	10734	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 (2):

ORPHA:140162Inherited cancer-predisposing syndrome
rare genetic diseases; rare neoplastic diseases
ORPHA:64742Pleuropulmonary blastoma
rare respiratory diseases; rare neoplastic diseases

No children.

Genes

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
DICER1	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:17098	ENSG00000100697	606241	14q32.13	dicer 1, ribonuclease III	21266384[PMID]_24761742[PMID]

Prevalence and incidence

1 record

Type	Class	Value	Area	Qualification	Validation	Source
Annual incidence	<1 / 1 000 000	0.007 / 100 000	Worldwide	Value and class	Not yet validated	22796286[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/284343
This record as JSON: /data/d/284343.json