MCID: DCR009
MIFTS: 24

Dicer1-Related Disorders

Categories: Cancer diseases, Genetic diseases

Aliases & Classifications for Dicer1-Related Disorders

MalaCards integrated aliases for Dicer1-Related Disorders:

Name: Dicer1-Related Disorders 25
Dicer1 Syndrome 25 26 30 17 74
Dicer1-Pleuropulmonary Blastoma Familial Tumor Predisposition Syndrome 25
Dicer1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome 26
Pleuropulmonary Blastoma Familial Tumor and Dysplasia Syndrome 26
Pleuropulmonary Blastoma Family Tumor Susceptibility Syndrome 26

Characteristics:

GeneReviews:

25
Penetrance The penetrance of heterozygous germline dicer1 pathogenic variants appears to be reduced; however, the penetrance for any specific dicer1-related disorder is not known. while it is uncommon to have more than one individual in a family diagnosed with ppb, some of the other conditions associated with a germline dicer1 pathogenic variant (e.g., nodular hyperplasia of the thyroid, benign lung cysts) may have higher penetrance...

Classifications:



External Ids:

UMLS 74 C3839822

Summaries for Dicer1-Related Disorders

MalaCards based summary : Dicer1-Related Disorders, also known as dicer1 syndrome, is related to dicer1-related pleuropulmonary blastoma cancer predisposition syndrome and pleuropulmonary blastoma. The drugs Dactinomycin and Vincristine have been mentioned in the context of this disorder. Affiliated tissues include thyroid, lung and kidney.

GeneReviews: NBK196157

Related Diseases for Dicer1-Related Disorders

Graphical network of the top 20 diseases related to Dicer1-Related Disorders:



Diseases related to Dicer1-Related Disorders

Symptoms & Phenotypes for Dicer1-Related Disorders

Drugs & Therapeutics for Dicer1-Related Disorders

Drugs for Dicer1-Related Disorders (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dactinomycin Approved, Investigational 50-76-0 457193 2019
2
Vincristine Approved, Investigational 2068-78-2, 57-22-7 5978
3
Ifosfamide Approved 3778-73-2 3690
4
Doxorubicin Approved, Investigational 23214-92-8 31703
5
Cyclophosphamide Approved, Investigational 50-18-0, 6055-19-2 2907
6
Doxil Approved June 1999 31703
7
Isophosphamide mustard 0

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 DICER1-related Pleuropulmonary Blastoma Cancer Predisposition Syndrome: A Natural History Study Recruiting NCT01247597
2 International PPB Registry for PPB, DICER1 and Associated Conditions Recruiting NCT03382158
3 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268

Search NIH Clinical Center for Dicer1-Related Disorders

Genetic Tests for Dicer1-Related Disorders

Genetic tests related to Dicer1-Related Disorders:

# Genetic test Affiliating Genes
1 Dicer1 Syndrome 30

Anatomical Context for Dicer1-Related Disorders

MalaCards organs/tissues related to Dicer1-Related Disorders:

42
Thyroid, Lung, Kidney, Liver, Testes, Cervix, Heart

Publications for Dicer1-Related Disorders

Articles related to Dicer1-Related Disorders:

(show all 33)
# Title Authors Year
1
Mesenchymal Hamartoma of the Liver and DICER1 Syndrome. ( 31067372 )
2019
2
Clinical and Molecular Characteristics May Alter Treatment Strategies of Thyroid Malignancies in DICER1 Syndrome. ( 30260442 )
2019
3
DICER1 Syndrome: Characterization of the Ocular Phenotype in a Family-Based Cohort Study. ( 30339877 )
2019
4
An update on the central nervous system manifestations of DICER1 syndrome. ( 30953130 )
2019
5
Revisiting pleuropulmonary blastoma and atypical choroid plexus papilloma in a young child: DICER1 syndrome or not? ( 29943907 )
2018
6
Genomics of a pediatric ovarian fibrosarcoma. Association with the DICER1 syndrome. ( 29459759 )
2018
7
Multinodular Goiter Progression Toward Malignancy in a Case of DICER1 Syndrome: Histologic and Molecular Alterations. ( 29538609 )
2018
8
Second primary rhabdomyosarcoma of the uterine cervix presenting with synchronous ovarian Sertoli-Leydig cell tumor: An illustrative case of DICER1 syndrome. ( 30014022 )
2018
9
A case of neuroblastoma in DICER1 syndrome: Chance finding or noncanonical causation? ( 28766837 )
2018
10
DICER1 syndrome: Approach to testing and management at a large pediatric tertiary care center. ( 28960912 )
2018
11
Three synchronous malignancies in a patient with DICER1 syndrome. ( 29395683 )
2018
12
DICER1 Syndrome: DICER1 Mutations in Rare Cancers. ( 29762508 )
2018
13
Structural renal abnormalities in the DICER1 syndrome: a family-based cohort study. ( 30178239 )
2018
14
Further evidence that full gene deletions of DICER1 predispose to DICER1 syndrome. ( 30597651 )
2018
15
Identification of somatic and germ-line DICER1 mutations in pleuropulmonary blastoma, cystic nephroma and rhabdomyosarcoma tumors within a DICER1 syndrome pedigree. ( 28222777 )
2017
16
Embryonal rhabdomyosarcoma in a patient with a heterozygous frameshift variant in the DICER1 gene and additional manifestations of the DICER1 syndrome. ( 27896549 )
2017
17
Quantification of Thyroid Cancer and Multinodular Goiter Risk in the DICER1 Syndrome: A Family-Based Cohort Study. ( 28323992 )
2017
18
Macrocephaly associated with the DICER1 syndrome. ( 27441995 )
2017
19
Multimorbidity and Genetic Characteristics of DICER1 Syndrome Based on Systematic Review. ( 27906793 )
2017
20
Fetal Congenital Lung Lesions, DICER1 Syndrome, and Family History as a Risk Assessment Tool. ( 27960159 )
2017
21
Pediatric imaging in DICER1 syndrome. ( 28474256 )
2017
22
The co-occurrence of an ovarian Sertoli-Leydig cell tumor with a thyroid carcinoma is highly suggestive of a DICER1 syndrome. ( 26983701 )
2016
23
Hodgkin lymphoma as a novel presentation of familial DICER1 syndrome. ( 26526666 )
2016
24
Evolution of Renal Cysts to Anaplastic Sarcoma of Kidney in a Child With DICER1 Syndrome. ( 26928971 )
2016
25
High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome. ( 26475046 )
2016
26
DICER1 syndrome can mimic different genetic tumor predispositions. ( 26577641 )
2016
27
Gynecologic Manifestations of the DICER1 Syndrome. ( 27241106 )
2016
28
Ovarian embryonal rhabdomyosarcoma is a rare manifestation of the DICER1 syndrome. ( 25836323 )
2015
29
Temporal order of RNase IIIb and loss-of-function mutations during development determines phenotype in DICER1 syndrome: a unique variant of the two-hit tumor suppression model. ( 26925222 )
2015
30
Case 211: pleuropulmonary blastoma in association with cystic nephroma-DICER1 syndrome. ( 25340273 )
2014
31
Medulloepithelioma in DICER1 syndrome treated with resection. ( 23640610 )
2013
32
DICER1 syndrome: a new cancer syndrome. ( 23625684 )
2013
33
DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome. ( 21266384 )
2011

Variations for Dicer1-Related Disorders

Expression for Dicer1-Related Disorders

Search GEO for disease gene expression data for Dicer1-Related Disorders.

Pathways for Dicer1-Related Disorders

GO Terms for Dicer1-Related Disorders

Sources for Dicer1-Related Disorders

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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