MCID: DCR007
MIFTS: 30

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 72
Dicer1-Related Pleuropulmonary Blastoma 53

Classifications:



External Ids:

UMLS 72 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). 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 top 50) (show all 51)
# Related Disease Score Top Affiliating Genes
1 pleuropulmonary blastoma 11.9
2 dicer1-related disorders 11.8
3 embryoma 10.5
4 cystic nephroma 10.4
5 goiter 10.4
6 multinodular goiter 10.4
7 sertoli-leydig cell tumor 10.3
8 rhabdomyosarcoma 10.3
9 embryonal rhabdomyosarcoma 10.3
10 leydig cell tumor 10.3
11 medulloepithelioma 10.3
12 thyroid carcinoma 10.3
13 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.2
14 pineoblastoma 10.2
15 tumor predisposition syndrome 10.1
16 differentiated thyroid carcinoma 10.1
17 rare tumor 10.1
18 overgrowth syndrome 10.0
19 basal cell nevus syndrome 9.9
20 pilomatrixoma 9.9
21 medulloblastoma 9.9
22 nephrolithiasis, calcium oxalate 9.9
23 thyroid cancer, nonmedullary, 1 9.9
24 lymphoma, hodgkin, classic 9.9
25 neuroblastoma 1 9.9
26 papilloma of choroid plexus 9.9
27 retinitis pigmentosa 9.9
28 rhabdomyosarcoma, embryonal, 1 9.9
29 familial adenomatous polyposis 9.9
30 lymphoma 9.9
31 ovarian sex-cord stromal tumor 9.9
32 neuroretinitis 9.9
33 sarcoma 9.9
34 nephrocalcinosis 9.9
35 squamous cell papilloma 9.9
36 sex cord-gonadal stromal tumor 9.9
37 basal cell carcinoma 9.9
38 papilloma 9.9
39 fibrosarcoma 9.9
40 atypical choroid plexus papilloma 9.9
41 retinitis 9.9
42 thyroid gland papillary carcinoma 9.9
43 spindle cell sarcoma 9.9
44 kidney sarcoma 9.9
45 cowden syndrome 9.9
46 47,xyy 9.9
47 arachnoid cysts 9.9
48 ewing's family of tumors 9.9
49 pineal cyst 9.9
50 soft tissue sarcoma 9.9

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...

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 DICER1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome: A Natural History Study Recruiting NCT01247597
2 Natural History and Biospecimen Acquisition Study for Children and Adults With Rare Solid Tumors Recruiting NCT03739827

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, Pituitary, Liver, Testes

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

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

(show top 50) (show all 70)
# Title Authors PMID Year
1
Mesenchymal Hamartoma of the Liver and DICER1 Syndrome. 38
31390509 2019
2
Mesenchymal Hamartoma of the Liver and DICER1 Syndrome. Reply. 38
31390510 2019
3
Further evidence that full gene deletions of DICER1 predispose to DICER1 syndrome. 38
30597651 2019
4
Multinodular Goiter is a Gateway for Molecular Testing of DICER1 Syndrome. 38
31408196 2019
5
Germline Genetics and Childhood Cancer: Emerging Cancer Predisposition Syndromes and Psychosocial Impacts. 38
31414239 2019
6
Ten years of DICER1 mutations: Provenance, distribution, and associated phenotypes. 38
31342592 2019
7
Dicer1 Phosphomimetic Promotes Tumor Progression and Dissemination. 38
30914430 2019
8
Mesenchymal Hamartoma of the Liver and DICER1 Syndrome. 38
31067372 2019
9
An update on the central nervous system manifestations of DICER1 syndrome. 38
30953130 2019
10
Neoplasm Risk Among Individuals With a Pathogenic Germline Variant in DICER1. 38
30715996 2019
11
The prevalence of germline DICER1 pathogenic variation in cancer populations. 38
30672147 2019
12
Clinical and Molecular Characteristics May Alter Treatment Strategies of Thyroid Malignancies in DICER1 Syndrome. 38
30260442 2019
13
DICER1 Syndrome: Characterization of the Ocular Phenotype in a Family-Based Cohort Study. 38
30339877 2019
14
Germline and mosaic mutations causing pituitary tumours: genetic and molecular aspects. 38
30530903 2019
15
Identification of two 14q32 deletions involving DICER1 associated with the development of DICER1-related tumors. 38
29698806 2019
16
Genetic Causes of Rare Pediatric Ovarian Tumors. 38
31409083 2019
17
DICER1 Syndrome. 38
31409088 2019
18
Structural renal abnormalities in the DICER1 syndrome: a family-based cohort study. 38
30178239 2018
19
[DICER1 mutated, solid/trabecular thyroid papillary carcinoma in an 11-year-old child]. 38
29884466 2018
20
Revisiting pleuropulmonary blastoma and atypical choroid plexus papilloma in a young child: DICER1 syndrome or not? 38
29943907 2018
21
An update on the genetics of benign pituitary adenomas in children and adolescents. 38
30555957 2018
22
Second primary rhabdomyosarcoma of the uterine cervix presenting with synchronous ovarian Sertoli-Leydig cell tumor: An illustrative case of DICER1 syndrome. 38
30014022 2018
23
Analysis of DICER1 in familial and sporadic cases of transposition of the great arteries. 38
29399970 2018
24
DICER1 Syndrome: DICER1 Mutations in Rare Cancers. 38
29762508 2018
25
Multiple DICER1-related tumors in a child with a large interstitial 14q32 deletion. 38
29315962 2018
26
Three synchronous malignancies in a patient with DICER1 syndrome. 38
29395683 2018
27
Multinodular Goiter Progression Toward Malignancy in a Case of DICER1 Syndrome: Histologic and Molecular Alterations. 38
29538609 2018
28
Genomics of a pediatric ovarian fibrosarcoma. Association with the DICER1 syndrome. 38
29459759 2018
29
Familial multinodular goiter and Sertoli-Leydig cell tumors associated with a large intragenic in-frame DICER1 deletion. 38
29187512 2018
30
Uncommon hereditary gynaecological tumour syndromes: pathological features in tumours that may predict risk for a germline mutation. 38
29373116 2018
31
A Case Report of Syndromic Multinodular Goitre in Adolescence: Exploring the Phenotype Overlap between Cowden and DICER1 Syndromes. 38
29594054 2018
32
Anaplastic sarcomas of the kidney are characterized by DICER1 mutations. 38
28862265 2018
33
A case of neuroblastoma in DICER1 syndrome: Chance finding or noncanonical causation? 38
28766837 2018
34
DICER1 syndrome: Approach to testing and management at a large pediatric tertiary care center. 38
28960912 2018
35
A pair of DICER1-positive monozygotic twins: One with pleuropulmonary blastoma, another with acute transient hepatitis. 38
28688118 2017
36
The prevalence of DICER1 pathogenic variation in population databases. 38
28748527 2017
37
Pediatric imaging in DICER1 syndrome. 38
28474256 2017
38
Type III pleuropulmonary blastoma in a dicer1 germline mutation carrier: The management of residual lung cystic lesions. 38
28097783 2017
39
Embryonal rhabdomyosarcoma in a patient with a heterozygous frameshift variant in the DICER1 gene and additional manifestations of the DICER1 syndrome. 38
27896549 2017
40
Multimorbidity and Genetic Characteristics of DICER1 Syndrome Based on Systematic Review. 38
27906793 2017
41
Quantification of Thyroid Cancer and Multinodular Goiter Risk in the DICER1 Syndrome: A Family-Based Cohort Study. 38
28323992 2017
42
Macrocephaly associated with the DICER1 syndrome. 38
27441995 2017
43
Identification of somatic and germ-line DICER1 mutations in pleuropulmonary blastoma, cystic nephroma and rhabdomyosarcoma tumors within a DICER1 syndrome pedigree. 38
28222777 2017
44
Genetics and genomics of ovarian sex cord-stromal tumors. 38
27813081 2017
45
Fetal Congenital Lung Lesions, DICER1 Syndrome, and Family History as a Risk Assessment Tool. 38
27960159 2017
46
Familial non-medullary thyroid cancer: unraveling the genetic maze. 38
27807061 2016
47
Metachronous Type I pleuropulmonary blastoma and atypical choroid plexus papilloma in a young child. 38
27442759 2016
48
Novel Genetic Causes of Pituitary Adenomas. 38
27742789 2016
49
Deep Sequencing Reveals Spatially Distributed Distinct Hot Spot Mutations in DICER1-Related Multinodular Goiter. 38
27459524 2016
50
Evolution of Renal Cysts to Anaplastic Sarcoma of Kidney in a Child With DICER1 Syndrome. 38
26928971 2016

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 1353)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 DICER1 NM_177438.2(DICER1): c.1767del (p.Lys589fs) deletion Pathogenic rs1060503662 14:95582144-95582144 14:95115807-95115807
2 DICER1 NM_177438.2(DICER1): c.1747del (p.Glu583fs) deletion Pathogenic rs1060503633 14:95582795-95582795 14:95116458-95116458
3 DICER1 NM_177438.2(DICER1): c.2507_2508del (p.Phe836fs) deletion Pathogenic rs1060503628 14:95574359-95574360 14:95108022-95108023
4 DICER1 NM_177438.2(DICER1): c.3007C> T (p.Arg1003Ter) single nucleotide variant Pathogenic rs1060503605 14:95572101-95572101 14:95105764-95105764
5 DICER1 NM_177438.2(DICER1): c.2233C> T (p.Arg745Ter) single nucleotide variant Pathogenic rs1060503584 14:95577677-95577677 14:95111340-95111340
6 DICER1 NM_177438.2(DICER1): c.1706_1710del (p.Ile569fs) deletion Pathogenic rs1060503665 14:95582832-95582836 14:95116495-95116499
7 DICER1 NM_177438.2(DICER1): c.5494C> T (p.Gln1832Ter) single nucleotide variant Pathogenic rs1060503583 14:95557573-95557573 14:95091236-95091236
8 DICER1 NM_177438.2(DICER1): c.4130del (p.Pro1377fs) deletion Pathogenic rs34678453 14:95566193-95566193 14:95099856-95099856
9 DICER1 NM_177438.2(DICER1): c.3349G> T (p.Glu1117Ter) single nucleotide variant Pathogenic rs1060503617 14:95570384-95570384 14:95104047-95104047
10 DICER1 NM_177438.2(DICER1): c.2953del (p.Gln985fs) deletion Pathogenic rs1060503627 14:95572412-95572412 14:95106075-95106075
11 DICER1 NM_177438.2(DICER1): c.4401_4402CT[2] (p.Leu1469fs) short repeat Pathogenic rs1064795904 14:95562851-95562852 14:95096514-95096515
12 DICER1 NM_177438.2(DICER1): c.4458dup (p.Ser1487fs) duplication Pathogenic rs1131691197 14:95562799-95562799 14:95096462-95096462
13 DICER1 NM_177438.2(DICER1): c.2988-1G> T single nucleotide variant Pathogenic rs1131691192 14:95572121-95572121 14:95105784-95105784
14 DICER1 NM_177438.2(DICER1): c.4638C> A (p.Tyr1546Ter) single nucleotide variant Pathogenic rs773822569 14:95562619-95562619 14:95096282-95096282
15 DICER1 NM_177438.2(DICER1): c.2245_2248dup (p.Pro750fs) duplication Pathogenic rs1555371565 14:95577662-95577665 14:95111325-95111328
16 DICER1 NM_177438.2(DICER1): c.2197_2198GA[3] (p.Thr734fs) short repeat Pathogenic rs1555371596 14:95577710-95577711 14:95111373-95111374
17 DICER1 NM_177438.2(DICER1): c.1417del (p.Tyr473fs) deletion Pathogenic rs1555373228 14:95584051-95584051 14:95117714-95117714
18 DICER1 NM_177438.2(DICER1): c.1694del (p.Asp565fs) deletion Pathogenic rs1555372851 14:95582848-95582848 14:95116511-95116511
19 DICER1 NM_177438.2(DICER1): c.5479del (p.Leu1827fs) deletion Pathogenic rs1555366197 14:95557588-95557588 14:95091251-95091251
20 DICER1 NM_177438.2(DICER1): c.1029dup (p.Phe344fs) duplication Pathogenic rs1555374772 14:95590880-95590880 14:95124543-95124543
21 DICER1 NM_177438.2(DICER1): c.535del (p.Ala180fs) deletion Pathogenic rs1555375946 14:95596433-95596433 14:95130096-95130096
22 DICER1 NM_177438.2(DICER1): c.1137del (p.Lys379fs) deletion Pathogenic rs1555374734 14:95590772-95590772 14:95124435-95124435
23 DICER1 NM_177438.2(DICER1): c.823G> T (p.Glu275Ter) single nucleotide variant Pathogenic rs1555375333 14:95592997-95592997 14:95126660-95126660
24 DICER1 NM_177438.2(DICER1): c.901C> T (p.Gln301Ter) single nucleotide variant Pathogenic rs781144010 14:95592919-95592919 14:95126582-95126582
25 DICER1 NM_177438.2(DICER1): c.459dup (p.Val154fs) duplication Pathogenic rs1555375978 14:95596509-95596509 14:95130172-95130172
26 DICER1 NM_177438.2(DICER1): c.256del (p.Arg86fs) deletion Pathogenic rs1555376375 14:95598903-95598903 14:95132566-95132566
27 DICER1 NM_177438.2(DICER1): c.282_283dup (p.Arg95fs) duplication Pathogenic rs1555376368 14:95598876-95598877 14:95132539-95132540
28 DICER1 NM_177438.2(DICER1): c.5103C> G (p.Tyr1701Ter) single nucleotide variant Pathogenic rs875989780 14:95560486-95560486 14:95094149-95094149
29 DICER1 NM_177438.2(DICER1): c.4999G> T (p.Glu1667Ter) single nucleotide variant Pathogenic rs1555367522 14:95562258-95562258 14:95095921-95095921
30 DICER1 NM_177438.2(DICER1): c.2955delinsTT (p.Gln985fs) indel Pathogenic rs1555370268 14:95572410-95572410 14:95106073-95106073
31 DICER1 NM_177438.2(DICER1): c.4212del (p.Asp1405fs) deletion Pathogenic rs1555367927 14:95563045-95563045 14:95096708-95096708
32 DICER1 NM_177438.2(DICER1): c.100C> T (p.Gln34Ter) single nucleotide variant Pathogenic rs1555376548 14:95599696-95599696 14:95133359-95133359
33 DICER1 NM_177438.2(DICER1): c.757dup (p.Ile253fs) duplication Pathogenic rs1555375356 14:95593063-95593063 14:95126726-95126726
34 DICER1 NM_177438.2(DICER1): c.2370_2373dup (p.Leu792fs) duplication Pathogenic rs1555370915 14:95574724-95574727 14:95108387-95108390
35 DICER1 NM_177438.2(DICER1): c.947G> A (p.Trp316Ter) single nucleotide variant Pathogenic rs1555374839 14:95590962-95590962 14:95124625-95124625
36 DICER1 NM_177438.2(DICER1): c.4748T> G (p.Leu1583Arg) single nucleotide variant Pathogenic rs137852976 14:95562509-95562509 14:95096172-95096172
37 DICER1 NM_177438.2(DICER1): c.1507G> T (p.Glu503Ter) single nucleotide variant Pathogenic rs137852977 14:95583961-95583961 14:95117624-95117624
38 DICER1 NM_177438.2(DICER1): c.2830C> T (p.Arg944Ter) single nucleotide variant Pathogenic rs137852978 14:95572535-95572535 14:95106198-95106198
39 DICER1 NM_177438.2(DICER1): c.1630C> T (p.Arg544Ter) single nucleotide variant Pathogenic rs137852979 14:95582912-95582912 14:95116575-95116575
40 DICER1 NM_177438.2(DICER1): c.559C> T (p.Arg187Ter) single nucleotide variant Pathogenic rs763801533 14:95596409-95596409 14:95130072-95130072
41 DICER1 NM_177438.2(DICER1): c.489C> G (p.Tyr163Ter) single nucleotide variant Pathogenic rs864622626 14:95596479-95596479 14:95130142-95130142
42 DICER1 NM_177438.2(DICER1): c.4754C> G (p.Ser1585Ter) single nucleotide variant Pathogenic rs875989779 14:95562503-95562503 14:95096166-95096166
43 DICER1 NM_177438.2(DICER1): c.4407_4410del (p.Ser1470fs) deletion Pathogenic rs875989784 14:95562847-95562850 14:95096510-95096513
44 DICER1 NM_177438.2(DICER1): c.5315_5316del (p.Phe1772fs) deletion Pathogenic rs878855274 14:95560273-95560274 14:95093936-95093937
45 DICER1 NM_177438.2(DICER1): c.4004dup (p.Tyr1335Ter) duplication Pathogenic rs878855262 14:95569729-95569729 14:95103392-95103392
46 DICER1 NM_177438.2(DICER1): c.2026C> T (p.Arg676Ter) single nucleotide variant Pathogenic rs878855246 14:95579443-95579443 14:95113106-95113106
47 DICER1 NM_177438.2(DICER1): c.5465A> T (p.Asp1822Val) single nucleotide variant Pathogenic rs886037729 14:95557602-95557602 14:95091265-95091265
48 DICER1 NM_177438.2(DICER1): c.5394del (p.Glu1799fs) deletion Pathogenic rs886037728 14:95557673-95557673 14:95091336-95091336
49 DICER1 NM_177438.2(DICER1): c.5096-498_5364+356del deletion Pathogenic 14:95559869-95560991 14:95093532-95094654
50 DICER1 NM_177438.2(DICER1): c.5299del (p.His1767fs) deletion Pathogenic rs886037727 14:95560290-95560290 14:95093953-95093953

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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