MCID: DCR007
MIFTS: 21

Dicer1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome

Categories: Cancer diseases, Rare diseases

Aliases & Classifications for Dicer1-Related Pleuropulmonary Blastoma Cancer Predisposition...

MalaCards integrated aliases for Dicer1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome:

Name: Dicer1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome 53 29 6
Dicer1 Syndrome 53 73
Dicer1-Related Pleuropulmonary Blastoma 53

Classifications:



External Ids:

UMLS 73 C3839822

Summaries for Dicer1-Related Pleuropulmonary Blastoma Cancer Predisposition...

NIH Rare Diseases : 53 DICER1-related pleuropulmonary blastoma cancer predisposition syndrome causes a moderately increased risk for certain cancers and tumors. The lungs, kidneys, ovaries, and thyroid are the most commonly involved sites. Pleuropulmonary blastoma is the most commonly associated tumor and often occurs in infants and young children. Cysts in the kidneys (cystic nephroma) are also associated with DICER1 syndrome. These cysts typically develop in childhood, but do not usually cause any health problems. Women with DICER1 syndrome are at an increased risk for Sertoli-Leydig tumors of the ovaries. DICER1 syndrome is also associated with goiter (multiple fluid-filled or solid tumors in the thyroid gland). These goiters typically occur in adulthood and most often do not cause symptoms. This syndrome is caused by mutations in the DICER1 gene. It is passed through families in an autosomal dominant fashion. Affected members in the same family can be very differently affected.

MalaCards based summary : Dicer1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome, also known as dicer1 syndrome, is related to pleuropulmonary blastoma and dicer1-related disorders. An important gene associated with Dicer1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome is DICER1 (Dicer 1, Ribonuclease III). The drugs Dactinomycin and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include thyroid, lung and kidney.

Related Diseases for Dicer1-Related Pleuropulmonary Blastoma Cancer Predisposition...

Diseases related to Dicer1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 19)
# Related Disease Score Top Affiliating Genes
1 pleuropulmonary blastoma 12.1
2 dicer1-related disorders 11.7
3 rhabdomyosarcoma 10.1
4 goiter 10.1
5 multinodular goiter 10.0
6 leydig cell tumor 10.0
7 sertoli-leydig cell tumor 10.0
8 embryonal rhabdomyosarcoma 10.0
9 lymphoma, hodgkin, classic 9.8
10 neuroblastoma 9.8
11 lymphoma 9.8
12 sarcoma 9.8
13 thyroid cancer 9.8
14 cystic nephroma 9.8
15 fibrosarcoma 9.8
16 kidney sarcoma 9.8
17 embryoma 9.8
18 medulloepithelioma 9.8
19 heparin-induced thrombocytopenia 9.8

Graphical network of the top 20 diseases related to Dicer1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome:



Diseases related to Dicer1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome

Symptoms & Phenotypes for Dicer1-Related Pleuropulmonary Blastoma Cancer Predisposition...

Drugs & Therapeutics for Dicer1-Related Pleuropulmonary Blastoma Cancer Predisposition...

Drugs for Dicer1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome (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
Cyclophosphamide Approved, Investigational 6055-19-2, 50-18-0 2907
3
Vincristine Approved, Investigational 57-22-7, 2068-78-2 5978
4
Ifosfamide Approved 3778-73-2 3690
5
Doxorubicin Approved, Investigational 23214-92-8 31703
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 Ovarian & Testicular Stromal Tumor Registry Recruiting NCT01970696
3 International PPB Registry for PPB, DICER1 and Associated Conditions Recruiting NCT03382158
4 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268

Search NIH Clinical Center for Dicer1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome

Genetic Tests for Dicer1-Related Pleuropulmonary Blastoma Cancer Predisposition...

Genetic tests related to Dicer1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome:

# Genetic test Affiliating Genes
1 Dicer1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome 29 DICER1

Anatomical Context for Dicer1-Related Pleuropulmonary Blastoma Cancer Predisposition...

MalaCards organs/tissues related to Dicer1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome:

41
Thyroid, Lung, Kidney, Ovary, Testes, Cervix

Publications for Dicer1-Related Pleuropulmonary Blastoma Cancer Predisposition...

Articles related to Dicer1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome:

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

Variations for Dicer1-Related Pleuropulmonary Blastoma Cancer Predisposition...

ClinVar genetic disease variations for Dicer1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome:

6 (show top 50) (show all 2279)
# Gene Variation Type Significance SNP ID Assembly Location
1 DICER1 NM_177438.2(DICER1): c.4748T> G (p.Leu1583Arg) single nucleotide variant Pathogenic rs137852976 GRCh37 Chromosome 14, 95562509: 95562509
2 DICER1 NM_177438.2(DICER1): c.4748T> G (p.Leu1583Arg) single nucleotide variant Pathogenic rs137852976 GRCh38 Chromosome 14, 95096172: 95096172
3 DICER1 NM_177438.2(DICER1): c.1507G> T (p.Glu503Ter) single nucleotide variant Pathogenic rs137852977 GRCh37 Chromosome 14, 95583961: 95583961
4 DICER1 NM_177438.2(DICER1): c.1507G> T (p.Glu503Ter) single nucleotide variant Pathogenic rs137852977 GRCh38 Chromosome 14, 95117624: 95117624
5 DICER1 NM_177438.2(DICER1): c.2830C> T (p.Arg944Ter) single nucleotide variant Pathogenic rs137852978 GRCh37 Chromosome 14, 95572535: 95572535
6 DICER1 NM_177438.2(DICER1): c.2830C> T (p.Arg944Ter) single nucleotide variant Pathogenic rs137852978 GRCh38 Chromosome 14, 95106198: 95106198
7 DICER1 NM_177438.2(DICER1): c.1630C> T (p.Arg544Ter) single nucleotide variant Pathogenic rs137852979 GRCh37 Chromosome 14, 95582912: 95582912
8 DICER1 NM_177438.2(DICER1): c.1630C> T (p.Arg544Ter) single nucleotide variant Pathogenic rs137852979 GRCh38 Chromosome 14, 95116575: 95116575
9 DICER1 NM_177438.2(DICER1): c.4296G> A (p.Pro1432=) single nucleotide variant Likely benign rs146679273 GRCh37 Chromosome 14, 95562961: 95562961
10 DICER1 NM_177438.2(DICER1): c.4296G> A (p.Pro1432=) single nucleotide variant Likely benign rs146679273 GRCh38 Chromosome 14, 95096624: 95096624
11 DICER1 NM_177438.2(DICER1): c.4296G> A (p.Pro1432=) single nucleotide variant Likely benign rs146679273 NCBI36 Chromosome 14, 94632714: 94632714
12 DICER1 NM_177438.2(DICER1): c.20A> G (p.Gln7Arg) single nucleotide variant Benign/Likely benign rs117358479 GRCh37 Chromosome 14, 95599776: 95599776
13 DICER1 NM_177438.2(DICER1): c.20A> G (p.Gln7Arg) single nucleotide variant Benign/Likely benign rs117358479 GRCh38 Chromosome 14, 95133439: 95133439
14 DICER1 NM_177438.2(DICER1): c.59C> T (p.Ala20Val) single nucleotide variant Conflicting interpretations of pathogenicity rs147660793 GRCh37 Chromosome 14, 95599737: 95599737
15 DICER1 NM_177438.2(DICER1): c.59C> T (p.Ala20Val) single nucleotide variant Conflicting interpretations of pathogenicity rs147660793 GRCh38 Chromosome 14, 95133400: 95133400
16 DICER1 NM_177438.2(DICER1): c.1825G> T (p.Asp609Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs114947750 GRCh37 Chromosome 14, 95582086: 95582086
17 DICER1 NM_177438.2(DICER1): c.1825G> T (p.Asp609Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs114947750 GRCh38 Chromosome 14, 95115749: 95115749
18 DICER1 NM_177438.2(DICER1): c.2557A> G (p.Ile853Val) single nucleotide variant Conflicting interpretations of pathogenicity rs61729795 GRCh37 Chromosome 14, 95574310: 95574310
19 DICER1 NM_177438.2(DICER1): c.2557A> G (p.Ile853Val) single nucleotide variant Conflicting interpretations of pathogenicity rs61729795 GRCh38 Chromosome 14, 95107973: 95107973
20 DICER1 NM_177438.2(DICER1): c.2614G> A (p.Ala872Thr) single nucleotide variant Benign/Likely benign rs149242330 GRCh37 Chromosome 14, 95574253: 95574253
21 DICER1 NM_177438.2(DICER1): c.2614G> A (p.Ala872Thr) single nucleotide variant Benign/Likely benign rs149242330 GRCh38 Chromosome 14, 95107916: 95107916
22 DICER1 NM_177438.2(DICER1): c.179C> T (p.Thr60Ile) single nucleotide variant Uncertain significance rs587778228 GRCh37 Chromosome 14, 95598980: 95598980
23 DICER1 NM_177438.2(DICER1): c.179C> T (p.Thr60Ile) single nucleotide variant Uncertain significance rs587778228 GRCh38 Chromosome 14, 95132643: 95132643
24 DICER1 NM_177438.2(DICER1): c.3334A> G (p.Asn1112Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs587778229 GRCh37 Chromosome 14, 95570399: 95570399
25 DICER1 NM_177438.2(DICER1): c.3334A> G (p.Asn1112Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs587778229 GRCh38 Chromosome 14, 95104062: 95104062
26 DICER1 NM_177438.2(DICER1): c.3553G> A (p.Ala1185Thr) single nucleotide variant Uncertain significance rs150514959 GRCh37 Chromosome 14, 95570180: 95570180
27 DICER1 NM_177438.2(DICER1): c.3553G> A (p.Ala1185Thr) single nucleotide variant Uncertain significance rs150514959 GRCh38 Chromosome 14, 95103843: 95103843
28 DICER1 NM_177438.2(DICER1): c.4260_4262delGGA (p.Glu1420del) deletion Conflicting interpretations of pathogenicity rs544960260 GRCh37 Chromosome 14, 95562995: 95562997
29 DICER1 NM_177438.2(DICER1): c.4260_4262delGGA (p.Glu1420del) deletion Conflicting interpretations of pathogenicity rs544960260 GRCh38 Chromosome 14, 95096658: 95096660
30 DICER1 NM_177438.2(DICER1): c.4923T> G (p.Cys1641Trp) single nucleotide variant Uncertain significance rs587778231 GRCh37 Chromosome 14, 95562334: 95562334
31 DICER1 NM_177438.2(DICER1): c.4923T> G (p.Cys1641Trp) single nucleotide variant Uncertain significance rs587778231 GRCh38 Chromosome 14, 95095997: 95095997
32 DICER1 NM_177438.2(DICER1): c.5276A> G (p.Lys1759Arg) single nucleotide variant Uncertain significance rs144259142 GRCh37 Chromosome 14, 95560313: 95560313
33 DICER1 NM_177438.2(DICER1): c.5276A> G (p.Lys1759Arg) single nucleotide variant Uncertain significance rs144259142 GRCh38 Chromosome 14, 95093976: 95093976
34 DICER1 NM_177438.2(DICER1): c.1013A> C (p.Glu338Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs587778232 GRCh37 Chromosome 14, 95590896: 95590896
35 DICER1 NM_177438.2(DICER1): c.1013A> C (p.Glu338Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs587778232 GRCh38 Chromosome 14, 95124559: 95124559
36 DICER1 NM_177438.2(DICER1): c.5516G> A (p.Arg1839Gln) single nucleotide variant Uncertain significance rs587778233 GRCh37 Chromosome 14, 95557551: 95557551
37 DICER1 NM_177438.2(DICER1): c.5516G> A (p.Arg1839Gln) single nucleotide variant Uncertain significance rs587778233 GRCh38 Chromosome 14, 95091214: 95091214
38 DICER1 NM_177438.2(DICER1): c.5643T> C (p.Thr1881=) single nucleotide variant Likely benign rs199574382 GRCh38 Chromosome 14, 95090624: 95090624
39 DICER1 NM_177438.2(DICER1): c.5643T> C (p.Thr1881=) single nucleotide variant Likely benign rs199574382 GRCh37 Chromosome 14, 95556961: 95556961
40 DICER1 NM_177438.2(DICER1): c.5145C> T (p.Leu1715=) single nucleotide variant Benign/Likely benign rs139500905 GRCh38 Chromosome 14, 95094107: 95094107
41 DICER1 NM_177438.2(DICER1): c.5145C> T (p.Leu1715=) single nucleotide variant Benign/Likely benign rs139500905 GRCh37 Chromosome 14, 95560444: 95560444
42 DICER1 NM_177438.2(DICER1): c.4891T> G (p.Ser1631Ala) single nucleotide variant Likely benign rs145551486 GRCh37 Chromosome 14, 95562366: 95562366
43 DICER1 NM_177438.2(DICER1): c.4891T> G (p.Ser1631Ala) single nucleotide variant Likely benign rs145551486 GRCh38 Chromosome 14, 95096029: 95096029
44 DICER1 NM_177438.2(DICER1): c.4874C> A (p.Ser1625Tyr) single nucleotide variant Uncertain significance rs864622653 GRCh37 Chromosome 14, 95562383: 95562383
45 DICER1 NM_177438.2(DICER1): c.4874C> A (p.Ser1625Tyr) single nucleotide variant Uncertain significance rs864622653 GRCh38 Chromosome 14, 95096046: 95096046
46 DICER1 NM_177438.2(DICER1): c.4773C> T (p.Leu1591=) single nucleotide variant Likely benign rs138308365 GRCh38 Chromosome 14, 95096147: 95096147
47 DICER1 NM_177438.2(DICER1): c.4773C> T (p.Leu1591=) single nucleotide variant Likely benign rs138308365 GRCh37 Chromosome 14, 95562484: 95562484
48 DICER1 NM_177438.2(DICER1): c.4206+8_4206+9insTTGT insertion Benign rs763704682 GRCh38 Chromosome 14, 95099771: 95099772
49 DICER1 NM_177438.2(DICER1): c.4206+8_4206+9insTTGT insertion Benign rs763704682 GRCh37 Chromosome 14, 95566108: 95566109
50 DICER1 NM_177438.2(DICER1): c.4206+8_4206+9insTTGTGTGT insertion Benign rs763704682 GRCh38 Chromosome 14, 95099771: 95099772

Expression for Dicer1-Related Pleuropulmonary Blastoma Cancer Predisposition...

Search GEO for disease gene expression data for Dicer1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome.

Pathways for Dicer1-Related Pleuropulmonary Blastoma Cancer Predisposition...

GO Terms for Dicer1-Related Pleuropulmonary Blastoma Cancer Predisposition...

Sources for Dicer1-Related Pleuropulmonary Blastoma Cancer Predisposition...

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