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Pleuropulmonary blastoma family tumor susceptibility syndrome
1 OMIM reference -
1 associated gene
17 connected diseases
No signs/symptoms info
Disease Type of connection
Familial multinodular goiter
Ovarian malignant Sertoli-Leydig cell tumor
Dystonia 16
Congenital analbuminemia
Aicardi-Goutières syndrome
Dyschromatosis symmetrica hereditaria
Familial infantile bilateral striatal necrosis
Acute myeloblastic leukemia with maturation
Acute myeloblastic leukemia without maturation
Acute myelomonocytic leukemia
Acute promyelocytic leukemia
Anauxetic dysplasia
Proximal spinal muscular atrophy type 1
Proximal spinal muscular atrophy type 2
Proximal spinal muscular atrophy type 3
Proximal spinal muscular atrophy type 4
Pseudohypoaldosteronism type 2E
Synonym(s):
- DICER1 syndrome
- PPB family tumor susceptibility syndrome
- PPBFTDS
- Pleuro-pulmonary blastoma family tumor susceptibility syndrome
Classification (Orphanet):
- Rare oncologic disease
- Rare respiratory disease
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: -
Average age onset: adolescence / young
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
DICER1 Q9UPY3606241
No signs/symptoms info available.