MCID: DCR007
MIFTS: 19

Dicer1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome

Categories: Rare diseases, Cancer 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 dicer1-related disorders. An important gene associated with Dicer1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome is DICER1 (Dicer 1, Ribonuclease III). The drugs Doxorubicin and Ifosfamide have been mentioned in the context of this disorder. Affiliated tissues include thyroid, ovary 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:

# Related Disease Score Top Affiliating Genes
1 dicer1-related disorders 11.5

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
Doxorubicin Approved, Investigational 23214-92-8 31703
2
Ifosfamide Approved 3778-73-2 3690
3
Vincristine Approved, Investigational 2068-78-2, 57-22-7 5978
4
Cyclophosphamide Approved, Investigational 50-18-0, 6055-19-2 2907
5
Dactinomycin Approved, Investigational 50-76-0 2019 457193
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, Ovary, Kidney, Lung, Testes

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

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

(show all 16)
# 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
Identification of somatic and germ-line DICER1 mutations in pleuropulmonary blastoma, cystic nephroma and rhabdomyosarcoma tumors within a DICER1 syndrome pedigree. ( 28222777 )
2017
7
Quantification of Thyroid Cancer and Multinodular Goiter Risk in the DICER1 Syndrome: A Family-Based Cohort Study. ( 28323992 )
2017
8
Macrocephaly associated with the DICER1 syndrome. ( 27441995 )
2017
9
The co-occurrence of an ovarian Sertoli-Leydig cell tumor with a thyroid carcinoma is highly suggestive of a DICER1 syndrome. ( 26983701 )
2016
10
Hodgkin lymphoma as a novel presentation of familial DICER1 syndrome. ( 26526666 )
2016
11
Embryonal rhabdomyosarcoma in a patient with a heterozygous frameshift variant in the DICER1 gene and additional manifestations of the DICER1 syndrome. ( 27896549 )
2016
12
DICER1 syndrome can mimic different genetic tumor predispositions. ( 26577641 )
2016
13
Ovarian embryonal rhabdomyosarcoma is a rare manifestation of the DICER1 syndrome. ( 25836323 )
2015
14
DICER1 syndrome: a new cancer syndrome. ( 23625684 )
2013
15
Medulloepithelioma in DICER1 syndrome treated with resection. ( 23640610 )
2013
16
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 1944)
# 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.5643T> C (p.Thr1881=) single nucleotide variant Likely benign rs199574382 GRCh38 Chromosome 14, 95090624: 95090624
10 DICER1 NM_177438.2(DICER1): c.5643T> C (p.Thr1881=) single nucleotide variant Likely benign rs199574382 GRCh37 Chromosome 14, 95556961: 95556961
11 DICER1 NM_177438.2(DICER1): c.5145C> T (p.Leu1715=) single nucleotide variant Benign/Likely benign rs139500905 GRCh38 Chromosome 14, 95094107: 95094107
12 DICER1 NM_177438.2(DICER1): c.5145C> T (p.Leu1715=) single nucleotide variant Benign/Likely benign rs139500905 GRCh37 Chromosome 14, 95560444: 95560444
13 DICER1 NM_177438.2(DICER1): c.4891T> G (p.Ser1631Ala) single nucleotide variant Likely benign rs145551486 GRCh37 Chromosome 14, 95562366: 95562366
14 DICER1 NM_177438.2(DICER1): c.4891T> G (p.Ser1631Ala) single nucleotide variant Likely benign rs145551486 GRCh38 Chromosome 14, 95096029: 95096029
15 DICER1 NM_177438.2(DICER1): c.4874C> A (p.Ser1625Tyr) single nucleotide variant Uncertain significance rs864622653 GRCh37 Chromosome 14, 95562383: 95562383
16 DICER1 NM_177438.2(DICER1): c.4874C> A (p.Ser1625Tyr) single nucleotide variant Uncertain significance rs864622653 GRCh38 Chromosome 14, 95096046: 95096046
17 DICER1 NM_177438.2(DICER1): c.4773C> T (p.Leu1591=) single nucleotide variant Likely benign rs138308365 GRCh38 Chromosome 14, 95096147: 95096147
18 DICER1 NM_177438.2(DICER1): c.4773C> T (p.Leu1591=) single nucleotide variant Likely benign rs138308365 GRCh37 Chromosome 14, 95562484: 95562484
19 DICER1 NM_177438.2(DICER1): c.4206+8_4206+9insTTGT insertion Benign rs763704682 GRCh38 Chromosome 14, 95099771: 95099772
20 DICER1 NM_177438.2(DICER1): c.4206+8_4206+9insTTGT insertion Benign rs763704682 GRCh37 Chromosome 14, 95566108: 95566109
21 DICER1 NM_177438.2(DICER1): c.4206+8_4206+9insTTGTGTGT insertion Benign rs763704682 GRCh38 Chromosome 14, 95099771: 95099772
22 DICER1 NM_177438.2(DICER1): c.4206+8_4206+9insTTGTGTGT insertion Benign rs763704682 GRCh37 Chromosome 14, 95566108: 95566109
23 DICER1 NM_177438.2(DICER1): c.4206+8_4206+9insTTGTGTGTGT insertion Benign rs763704682 GRCh37 Chromosome 14, 95566108: 95566109
24 DICER1 NM_177438.2(DICER1): c.4206+8_4206+9insTTGTGTGTGT insertion Benign rs763704682 GRCh38 Chromosome 14, 95099771: 95099772
25 DICER1 NM_177438.2(DICER1): c.4206+7_4206+8dupTT duplication Benign rs763704682 GRCh38 Chromosome 14, 95099772: 95099773
26 DICER1 NM_177438.2(DICER1): c.4206+7_4206+8dupTT duplication Benign rs763704682 GRCh37 Chromosome 14, 95566109: 95566110
27 DICER1 NM_177438.2(DICER1): c.4014G> A (p.Ala1338=) single nucleotide variant Benign/Likely benign rs143454689 GRCh38 Chromosome 14, 95103382: 95103382
28 DICER1 NM_177438.2(DICER1): c.4014G> A (p.Ala1338=) single nucleotide variant Benign/Likely benign rs143454689 GRCh37 Chromosome 14, 95569719: 95569719
29 DICER1 NM_177438.2(DICER1): c.3972G> A (p.Lys1324=) single nucleotide variant Benign/Likely benign rs45562437 GRCh38 Chromosome 14, 95103424: 95103424
30 DICER1 NM_177438.2(DICER1): c.3972G> A (p.Lys1324=) single nucleotide variant Benign/Likely benign rs45562437 GRCh37 Chromosome 14, 95569761: 95569761
31 DICER1 NM_177438.2(DICER1): c.3519A> G (p.Thr1173=) single nucleotide variant Likely benign rs745483867 GRCh37 Chromosome 14, 95570214: 95570214
32 DICER1 NM_177438.2(DICER1): c.3519A> G (p.Thr1173=) single nucleotide variant Likely benign rs745483867 GRCh38 Chromosome 14, 95103877: 95103877
33 DICER1 NM_177438.2(DICER1): c.3466T> G (p.Leu1156Val) single nucleotide variant Uncertain significance rs760950917 GRCh38 Chromosome 14, 95103930: 95103930
34 DICER1 NM_177438.2(DICER1): c.3466T> G (p.Leu1156Val) single nucleotide variant Uncertain significance rs760950917 GRCh37 Chromosome 14, 95570267: 95570267
35 DICER1 NM_177438.2(DICER1): c.3428T> C (p.Leu1143Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs139786661 GRCh37 Chromosome 14, 95570305: 95570305
36 DICER1 NM_177438.2(DICER1): c.3428T> C (p.Leu1143Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs139786661 GRCh38 Chromosome 14, 95103968: 95103968
37 DICER1 NM_177438.2(DICER1): c.2370G> A (p.Arg790=) single nucleotide variant Benign/Likely benign rs112712209 GRCh37 Chromosome 14, 95574727: 95574727
38 DICER1 NM_177438.2(DICER1): c.2370G> A (p.Arg790=) single nucleotide variant Benign/Likely benign rs112712209 GRCh38 Chromosome 14, 95108390: 95108390
39 DICER1 NM_177438.2(DICER1): c.1935G> A (p.Pro645=) single nucleotide variant Benign/Likely benign rs61751177 GRCh38 Chromosome 14, 95113197: 95113197
40 DICER1 NM_177438.2(DICER1): c.1935G> A (p.Pro645=) single nucleotide variant Benign/Likely benign rs61751177 GRCh37 Chromosome 14, 95579534: 95579534
41 DICER1 NM_177438.2(DICER1): c.1510-4dupT duplication Benign/Likely benign rs546524688 GRCh38 Chromosome 14, 95116699: 95116699
42 DICER1 NM_177438.2(DICER1): c.1510-4dupT duplication Benign/Likely benign rs546524688 GRCh37 Chromosome 14, 95583036: 95583036
43 DICER1 NM_177438.2(DICER1): c.1377-4T> G single nucleotide variant Benign/Likely benign rs192490028 GRCh38 Chromosome 14, 95117758: 95117758
44 DICER1 NM_177438.2(DICER1): c.1377-4T> G single nucleotide variant Benign/Likely benign rs192490028 GRCh37 Chromosome 14, 95584095: 95584095
45 DICER1 NM_177438.2(DICER1): c.1377-9T> C single nucleotide variant Likely benign rs373746475 GRCh38 Chromosome 14, 95117763: 95117763
46 DICER1 NM_177438.2(DICER1): c.1377-9T> C single nucleotide variant Likely benign rs373746475 GRCh37 Chromosome 14, 95584100: 95584100
47 DICER1 NM_177438.2(DICER1): c.1191C> T (p.Ser397=) single nucleotide variant Likely benign rs780067844 GRCh38 Chromosome 14, 95124381: 95124381
48 DICER1 NM_177438.2(DICER1): c.1191C> T (p.Ser397=) single nucleotide variant Likely benign rs780067844 GRCh37 Chromosome 14, 95590718: 95590718
49 DICER1 NM_177438.2(DICER1): c.924C> T (p.Ala308=) single nucleotide variant Benign/Likely benign rs142397473 GRCh38 Chromosome 14, 95124648: 95124648
50 DICER1 NM_177438.2(DICER1): c.924C> T (p.Ala308=) single nucleotide variant Benign/Likely benign rs142397473 GRCh37 Chromosome 14, 95590985: 95590985

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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