MCID: DCR007
MIFTS: 23

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 54 30 6
Dicer1 Syndrome 54 74
Dicer1-Related Pleuropulmonary Blastoma 54

Classifications:



External Ids:

UMLS 74 C3839822

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

NIH Rare Diseases : 54 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 Vincristine and Ifosfamide 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 thyroid cancer 10.0
7 leydig cell tumor 10.0
8 sertoli-leydig cell tumor 10.0
9 embryonal rhabdomyosarcoma 10.0
10 lymphoma, hodgkin, classic 9.8
11 neuroblastoma 9.8
12 lymphoma 9.8
13 sarcoma 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
Vincristine Approved, Investigational 2068-78-2, 57-22-7 5978
2
Ifosfamide Approved 3778-73-2 3690
3
Cyclophosphamide Approved, Investigational 6055-19-2, 50-18-0 2907
4
Doxorubicin Approved, Investigational 23214-92-8 31703
5
Dactinomycin Approved, Investigational 50-76-0 457193 2019
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 30 DICER1

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

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

42
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 31)
# Title Authors Year
1
DICER1 Syndrome: Characterization of the Ocular Phenotype in a Family-Based Cohort Study. ( 30339877 )
2019
2
Genomics of a pediatric ovarian fibrosarcoma. Association with the DICER1 syndrome. ( 29459759 )
2018
3
Revisiting pleuropulmonary blastoma and atypical choroid plexus in a young child: DICER1 syndrome or not? ( 29943907 )
2018
4
A case of neuroblastoma in DICER1 syndrome: Chance finding or noncanonical causation? ( 28766837 )
2018
5
DICER1 syndrome: Approach to testing and management at a large pediatric tertiary care center. ( 28960912 )
2018
6
Multinodular Goiter Progression Toward Malignancy in a Case of DICER1 Syndrome: Histologic and Molecular Alterations. ( 29538609 )
2018
7
Second primary rhabdomyosarcoma of the uterine cervix presenting with synchronous ovarian Sertoli-Leydig cell tumor: An illustrative case of DICER1 syndrome. ( 30014022 )
2018
8
Three synchronous malignancies in a patient with DICER1 syndrome. ( 29395683 )
2018
9
DICER1 Syndrome: DICER1 Mutations in Rare Cancers. ( 29762508 )
2018
10
Structural renal abnormalities in the DICER1 syndrome: a family-based cohort study. ( 30178239 )
2018
11
Clinical and Molecular Characteristics May Alter Treatment Strategies of Thyroid Malignancies in DICER1-syndrome. ( 30260442 )
2018
12
Further evidence that full gene deletions of DICER1 predispose to DICER1 syndrome. ( 30597651 )
2018
13
Identification of somatic and germ-line DICER1 mutations in pleuropulmonary blastoma, cystic nephroma and rhabdomyosarcoma tumors within a DICER1 syndrome pedigree. ( 28222777 )
2017
14
Quantification of Thyroid Cancer and Multinodular Goiter Risk in the DICER1 Syndrome: A Family-Based Cohort Study. ( 28323992 )
2017
15
Macrocephaly associated with the DICER1 syndrome. ( 27441995 )
2017
16
Multimorbidity and Genetic Characteristics of DICER1 Syndrome Based on Systematic Review. ( 27906793 )
2017
17
Fetal Congenital Lung Lesions, DICER1 Syndrome, and Family History as a Risk Assessment Tool. ( 27960159 )
2017
18
Pediatric imaging in DICER1 syndrome. ( 28474256 )
2017
19
The co-occurrence of an ovarian Sertoli-Leydig cell tumor with a thyroid carcinoma is highly suggestive of a DICER1 syndrome. ( 26983701 )
2016
20
Hodgkin lymphoma as a novel presentation of familial DICER1 syndrome. ( 26526666 )
2016
21
Embryonal rhabdomyosarcoma in a patient with a heterozygous frameshift variant in the DICER1 gene and additional manifestations of the DICER1 syndrome. ( 27896549 )
2016
22
DICER1 syndrome can mimic different genetic tumor predispositions. ( 26577641 )
2016
23
Evolution of Renal Cysts to Anaplastic Sarcoma of Kidney in a Child With DICER1 Syndrome. ( 26928971 )
2016
24
High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome. ( 26475046 )
2016
25
Gynecologic Manifestations of the DICER1 Syndrome. ( 27241106 )
2016
26
Ovarian embryonal rhabdomyosarcoma is a rare manifestation of the DICER1 syndrome. ( 25836323 )
2015
27
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
28
Case 211: Pleuropulmonary Blastoma in Association with Cystic Nephroma-DICER1 Syndrome. ( 25340273 )
2014
29
DICER1 syndrome: a new cancer syndrome. ( 23625684 )
2013
30
Medulloepithelioma in DICER1 syndrome treated with resection. ( 23640610 )
2013
31
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.5643T> C (p.Thr1881=) single nucleotide variant Likely benign rs199574382 GRCh38 Chromosome 14, 95090624: 95090624
2 DICER1 NM_177438.2(DICER1): c.5643T> C (p.Thr1881=) single nucleotide variant Likely benign rs199574382 GRCh37 Chromosome 14, 95556961: 95556961
3 DICER1 NM_177438.2(DICER1): c.5145C> T (p.Leu1715=) single nucleotide variant Benign/Likely benign rs139500905 GRCh38 Chromosome 14, 95094107: 95094107
4 DICER1 NM_177438.2(DICER1): c.5145C> T (p.Leu1715=) single nucleotide variant Benign/Likely benign rs139500905 GRCh37 Chromosome 14, 95560444: 95560444
5 DICER1 NM_177438.2(DICER1): c.4891T> G (p.Ser1631Ala) single nucleotide variant Likely benign rs145551486 GRCh37 Chromosome 14, 95562366: 95562366
6 DICER1 NM_177438.2(DICER1): c.4891T> G (p.Ser1631Ala) single nucleotide variant Likely benign rs145551486 GRCh38 Chromosome 14, 95096029: 95096029
7 DICER1 NM_177438.2(DICER1): c.4874C> A (p.Ser1625Tyr) single nucleotide variant Uncertain significance rs864622653 GRCh37 Chromosome 14, 95562383: 95562383
8 DICER1 NM_177438.2(DICER1): c.4874C> A (p.Ser1625Tyr) single nucleotide variant Uncertain significance rs864622653 GRCh38 Chromosome 14, 95096046: 95096046
9 DICER1 NM_177438.2(DICER1): c.4773C> T (p.Leu1591=) single nucleotide variant Likely benign rs138308365 GRCh38 Chromosome 14, 95096147: 95096147
10 DICER1 NM_177438.2(DICER1): c.4773C> T (p.Leu1591=) single nucleotide variant Likely benign rs138308365 GRCh37 Chromosome 14, 95562484: 95562484
11 DICER1 NM_177438.2(DICER1): c.4206+8_4206+9insTTGT insertion Benign rs763704682 GRCh38 Chromosome 14, 95099771: 95099772
12 DICER1 NM_177438.2(DICER1): c.4206+8_4206+9insTTGT insertion Benign rs763704682 GRCh37 Chromosome 14, 95566108: 95566109
13 DICER1 NM_177438.2(DICER1): c.4206+8_4206+9insTTGTGTGT insertion Benign rs763704682 GRCh38 Chromosome 14, 95099771: 95099772
14 DICER1 NM_177438.2(DICER1): c.4206+8_4206+9insTTGTGTGT insertion Benign rs763704682 GRCh37 Chromosome 14, 95566108: 95566109
15 DICER1 NM_177438.2(DICER1): c.4206+8_4206+9insTTGTGTGTGT insertion Benign rs763704682 GRCh37 Chromosome 14, 95566108: 95566109
16 DICER1 NM_177438.2(DICER1): c.4206+8_4206+9insTTGTGTGTGT insertion Benign rs763704682 GRCh38 Chromosome 14, 95099771: 95099772
17 DICER1 NM_177438.2(DICER1): c.4206+7_4206+8dupTT duplication Benign rs1555368535 GRCh38 Chromosome 14, 95099772: 95099773
18 DICER1 NM_177438.2(DICER1): c.4206+7_4206+8dupTT duplication Benign rs1555368535 GRCh37 Chromosome 14, 95566109: 95566110
19 DICER1 NM_177438.2(DICER1): c.4014G> A (p.Ala1338=) single nucleotide variant Benign/Likely benign rs143454689 GRCh38 Chromosome 14, 95103382: 95103382
20 DICER1 NM_177438.2(DICER1): c.4014G> A (p.Ala1338=) single nucleotide variant Benign/Likely benign rs143454689 GRCh37 Chromosome 14, 95569719: 95569719
21 DICER1 NM_177438.2(DICER1): c.3972G> A (p.Lys1324=) single nucleotide variant Benign/Likely benign rs45562437 GRCh38 Chromosome 14, 95103424: 95103424
22 DICER1 NM_177438.2(DICER1): c.3972G> A (p.Lys1324=) single nucleotide variant Benign/Likely benign rs45562437 GRCh37 Chromosome 14, 95569761: 95569761
23 DICER1 NM_177438.2(DICER1): c.3519A> G (p.Thr1173=) single nucleotide variant Likely benign rs745483867 GRCh37 Chromosome 14, 95570214: 95570214
24 DICER1 NM_177438.2(DICER1): c.3519A> G (p.Thr1173=) single nucleotide variant Likely benign rs745483867 GRCh38 Chromosome 14, 95103877: 95103877
25 DICER1 NM_177438.2(DICER1): c.3466T> G (p.Leu1156Val) single nucleotide variant Uncertain significance rs760950917 GRCh38 Chromosome 14, 95103930: 95103930
26 DICER1 NM_177438.2(DICER1): c.3466T> G (p.Leu1156Val) single nucleotide variant Uncertain significance rs760950917 GRCh37 Chromosome 14, 95570267: 95570267
27 DICER1 NM_177438.2(DICER1): c.3428T> C (p.Leu1143Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs139786661 GRCh37 Chromosome 14, 95570305: 95570305
28 DICER1 NM_177438.2(DICER1): c.3428T> C (p.Leu1143Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs139786661 GRCh38 Chromosome 14, 95103968: 95103968
29 DICER1 NM_177438.2(DICER1): c.2370G> A (p.Arg790=) single nucleotide variant Benign/Likely benign rs112712209 GRCh37 Chromosome 14, 95574727: 95574727
30 DICER1 NM_177438.2(DICER1): c.2370G> A (p.Arg790=) single nucleotide variant Benign/Likely benign rs112712209 GRCh38 Chromosome 14, 95108390: 95108390
31 DICER1 NM_177438.2(DICER1): c.1935G> A (p.Pro645=) single nucleotide variant Benign/Likely benign rs61751177 GRCh38 Chromosome 14, 95113197: 95113197
32 DICER1 NM_177438.2(DICER1): c.1935G> A (p.Pro645=) single nucleotide variant Benign/Likely benign rs61751177 GRCh37 Chromosome 14, 95579534: 95579534
33 DICER1 NM_177438.2(DICER1): c.1510-4dupT duplication Benign/Likely benign rs546524688 GRCh38 Chromosome 14, 95116699: 95116699
34 DICER1 NM_177438.2(DICER1): c.1510-4dupT duplication Benign/Likely benign rs546524688 GRCh37 Chromosome 14, 95583036: 95583036
35 DICER1 NM_177438.2(DICER1): c.1377-4T> G single nucleotide variant Benign/Likely benign rs192490028 GRCh38 Chromosome 14, 95117758: 95117758
36 DICER1 NM_177438.2(DICER1): c.1377-4T> G single nucleotide variant Benign/Likely benign rs192490028 GRCh37 Chromosome 14, 95584095: 95584095
37 DICER1 NM_177438.2(DICER1): c.1377-9T> C single nucleotide variant Likely benign rs373746475 GRCh38 Chromosome 14, 95117763: 95117763
38 DICER1 NM_177438.2(DICER1): c.1377-9T> C single nucleotide variant Likely benign rs373746475 GRCh37 Chromosome 14, 95584100: 95584100
39 DICER1 NM_177438.2(DICER1): c.1191C> T (p.Ser397=) single nucleotide variant Likely benign rs780067844 GRCh38 Chromosome 14, 95124381: 95124381
40 DICER1 NM_177438.2(DICER1): c.1191C> T (p.Ser397=) single nucleotide variant Likely benign rs780067844 GRCh37 Chromosome 14, 95590718: 95590718
41 DICER1 NM_177438.2(DICER1): c.924C> T (p.Ala308=) single nucleotide variant Benign/Likely benign rs142397473 GRCh38 Chromosome 14, 95124648: 95124648
42 DICER1 NM_177438.2(DICER1): c.924C> T (p.Ala308=) single nucleotide variant Benign/Likely benign rs142397473 GRCh37 Chromosome 14, 95590985: 95590985
43 DICER1 NM_177438.2(DICER1): c.559C> T (p.Arg187Ter) single nucleotide variant Pathogenic rs763801533 GRCh38 Chromosome 14, 95130072: 95130072
44 DICER1 NM_177438.2(DICER1): c.559C> T (p.Arg187Ter) single nucleotide variant Pathogenic rs763801533 GRCh37 Chromosome 14, 95596409: 95596409
45 DICER1 NM_177438.2(DICER1): c.489C> G (p.Tyr163Ter) single nucleotide variant Pathogenic rs864622626 GRCh37 Chromosome 14, 95596479: 95596479
46 DICER1 NM_177438.2(DICER1): c.489C> G (p.Tyr163Ter) single nucleotide variant Pathogenic rs864622626 GRCh38 Chromosome 14, 95130142: 95130142
47 DICER1 NM_177438.2(DICER1): c.366G> A (p.Gly122=) single nucleotide variant Likely benign rs368741914 GRCh38 Chromosome 14, 95131581: 95131581
48 DICER1 NM_177438.2(DICER1): c.366G> A (p.Gly122=) single nucleotide variant Likely benign rs368741914 GRCh37 Chromosome 14, 95597918: 95597918
49 DICER1 NM_177438.2(DICER1): c.4748T> G (p.Leu1583Arg) single nucleotide variant Pathogenic rs137852976 GRCh37 Chromosome 14, 95562509: 95562509
50 DICER1 NM_177438.2(DICER1): c.4748T> G (p.Leu1583Arg) single nucleotide variant Pathogenic rs137852976 GRCh38 Chromosome 14, 95096172: 95096172

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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