MCID: DCR007
MIFTS: 29

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 52 29 6
Dicer1 Syndrome 52 71
Dicer1-Related Pleuropulmonary Blastoma 52

Classifications:



External Ids:

UMLS 71 C3839822

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

NIH Rare Diseases : 52 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 tumor predisposition. 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 all 47)
# Related Disease Score Top Affiliating Genes
1 pleuropulmonary blastoma 11.9
2 dicer1 tumor predisposition 11.8
3 embryoma 10.5
4 nephroma 10.5
5 goiter 10.4
6 sertoli-leydig cell tumor 10.4
7 multinodular goiter 10.4
8 rhabdomyosarcoma 10.4
9 leydig cell tumor 10.3
10 embryonal rhabdomyosarcoma 10.3
11 medulloepithelioma 10.3
12 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.3
13 thyroid carcinoma 10.3
14 tumor predisposition syndrome 10.2
15 pineoblastoma 10.2
16 differentiated thyroid carcinoma 10.1
17 rare tumor 10.1
18 sarcoma 10.0
19 spindle cell sarcoma 10.0
20 neuroblastoma 10.0
21 overgrowth syndrome 10.0
22 basal cell nevus syndrome 9.9
23 pilomatrixoma 9.9
24 medulloblastoma 9.9
25 thyroid cancer, nonmedullary, 1 9.9
26 arachnoid cysts, intracranial 9.9
27 lymphoma, hodgkin, classic 9.9
28 papilloma of choroid plexus 9.9
29 retinitis pigmentosa 9.9
30 rhabdomyosarcoma, embryonal, 1 9.9
31 familial adenomatous polyposis 9.9
32 lymphoma 9.9
33 ovarian sex-cord stromal tumor 9.9
34 neuroretinitis 9.9
35 nephrocalcinosis 9.9
36 squamous cell papilloma 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 kidney sarcoma 9.9
43 nephrolithiasis 9.9
44 cowden syndrome 9.9
45 47,xyy 9.9
46 soft tissue sarcoma 9.9
47 intraocular medulloepithelioma 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:

40
Thyroid, Lung, Kidney, Ovary, Pituitary, Testes, Liver

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

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

(show top 50) (show all 83)
# Title Authors PMID Year
1
Malignant teratoid tumor of the thyroid gland: an aggressive primitive multiphenotypic malignancy showing organotypical elements and frequent DICER1 alterations-is the term "thyroblastoma" more appropriate? 61
32507920 2020
2
A child with neuroblastoma and metachronous anaplastic sarcoma of the kidney: Underlying DICER1 syndrome? 61
32568472 2020
3
Embryonal Rhabdomyosarcoma of the Ovary and Fallopian Tube: Rare Neoplasms Associated With Germline and Somatic DICER1 Mutations. 61
31990691 2020
4
Somatic tumour testing establishes that bilateral DICER1-associated ovarian Sertoli-Leydig cell tumours represent independent primary neoplasms. 61
32333409 2020
5
An update on the central nervous system manifestations of DICER1 syndrome. 61
30953130 2020
6
[Hereditary predispositions to follicular thyroid tumors]. 61
32192806 2020
7
GABPA-dependent down-regulation of DICER1 in follicular thyroid tumours. 61
32163919 2020
8
DICER1 screening in 15 paediatric paratesticular sarcomas unveils an unusual DICER1-associated sarcoma. 61
32222066 2020
9
Expanding the spectrum of dicer1-associated sarcomas. 61
31537896 2020
10
Practical roles for molecular diagnostic testing in ovarian adult granulosa cell tumour, Sertoli-Leydig cell tumour, microcystic stromal tumour and their mimics. 61
31846522 2020
11
Poorly differentiated thyroid carcinoma of childhood and adolescence: a distinct entity characterized by DICER1 mutations. 61
31937902 2020
12
[DICER1 constitutional pathogenic variant syndrome: Where are we in 2019?] 61
31610911 2019
13
Multinodular goitre is a gateway for molecular testing of DICER1 syndrome. 61
31408196 2019
14
Ten years of DICER1 mutations: Provenance, distribution, and associated phenotypes. 61
31342592 2019
15
Insights into pituitary tumorigenesis: from Sanger sequencing to next-generation sequencing and beyond. 61
31793361 2019
16
Imaging of DICER1 syndrome. 61
31620849 2019
17
Mesenchymal Hamartoma of the Liver and DICER1 Syndrome. Reply. 61
31390510 2019
18
Germline Genetics and Childhood Cancer: Emerging Cancer Predisposition Syndromes and Psychosocial Impacts. 61
31414239 2019
19
Mesenchymal Hamartoma of the Liver and DICER1 Syndrome. 61
31390509 2019
20
Further evidence that full gene deletions of DICER1 predispose to DICER1 syndrome. 61
30597651 2019
21
Dicer1 Phosphomimetic Promotes Tumor Progression and Dissemination. 61
30914430 2019
22
Mesenchymal Hamartoma of the Liver and DICER1 Syndrome. 61
31067372 2019
23
The prevalence of germline DICER1 pathogenic variation in cancer populations. 61
30672147 2019
24
Neoplasm Risk Among Individuals With a Pathogenic Germline Variant in DICER1. 61
30715996 2019
25
Clinical and Molecular Characteristics May Alter Treatment Strategies of Thyroid Malignancies in DICER1 Syndrome. 61
30260442 2019
26
DICER1 Syndrome: Characterization of the Ocular Phenotype in a Family-Based Cohort Study. 61
30339877 2019
27
Germline and mosaic mutations causing pituitary tumours: genetic and molecular aspects. 61
30530903 2019
28
Identification of two 14q32 deletions involving DICER1 associated with the development of DICER1-related tumors. 61
29698806 2019
29
DICER1 Syndrome. 61
31409088 2019
30
Genetic Causes of Rare Pediatric Ovarian Tumors. 61
31409083 2019
31
Structural renal abnormalities in the DICER1 syndrome: a family-based cohort study. 61
30178239 2018
32
[DICER1 mutated, solid/trabecular thyroid papillary carcinoma in an 11-year-old child]. 61
29884466 2018
33
Revisiting pleuropulmonary blastoma and atypical choroid plexus papilloma in a young child: DICER1 syndrome or not? 61
29943907 2018
34
Second primary rhabdomyosarcoma of the uterine cervix presenting with synchronous ovarian Sertoli-Leydig cell tumor: An illustrative case of DICER1 syndrome. 61
30014022 2018
35
An update on the genetics of benign pituitary adenomas in children and adolescents. 61
30555957 2018
36
Multiple DICER1-related tumors in a child with a large interstitial 14q32 deletion. 61
29315962 2018
37
Analysis of DICER1 in familial and sporadic cases of transposition of the great arteries. 61
29399970 2018
38
DICER1 Syndrome: DICER1 Mutations in Rare Cancers. 61
29762508 2018
39
Three synchronous malignancies in a patient with DICER1 syndrome. 61
29395683 2018
40
Multinodular Goiter Progression Toward Malignancy in a Case of DICER1 Syndrome: Histologic and Molecular Alterations. 61
29538609 2018
41
Familial multinodular goiter and Sertoli-Leydig cell tumors associated with a large intragenic in-frame DICER1 deletion. 61
29187512 2018
42
Uncommon hereditary gynaecological tumour syndromes: pathological features in tumours that may predict risk for a germline mutation. 61
29373116 2018
43
Genomics of a pediatric ovarian fibrosarcoma. Association with the DICER1 syndrome. 61
29459759 2018
44
A Case Report of Syndromic Multinodular Goitre in Adolescence: Exploring the Phenotype Overlap between Cowden and DICER1 Syndromes. 61
29594054 2018
45
Anaplastic sarcomas of the kidney are characterized by DICER1 mutations. 61
28862265 2018
46
A case of neuroblastoma in DICER1 syndrome: Chance finding or noncanonical causation? 61
28766837 2018
47
DICER1 syndrome: Approach to testing and management at a large pediatric tertiary care center. 61
28960912 2018
48
A pair of DICER1-positive monozygotic twins: One with pleuropulmonary blastoma, another with acute transient hepatitis. 61
28688118 2017
49
The prevalence of DICER1 pathogenic variation in population databases. 61
28748527 2017
50
Pediatric imaging in DICER1 syndrome. 61
28474256 2017

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 1722) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DICER1 NM_030621.4(DICER1):c.1767del (p.Lys589fs)deletion Pathogenic 412191 rs1060503662 14:95582144-95582144 14:95115807-95115807
2 DICER1 NM_030621.4(DICER1):c.1747del (p.Glu583fs)deletion Pathogenic 412131 rs1060503633 14:95582795-95582795 14:95116458-95116458
3 DICER1 NM_030621.4(DICER1):c.2507_2508del (p.Phe836fs)deletion Pathogenic 412123 rs1060503628 14:95574359-95574360 14:95108022-95108023
4 DICER1 NM_030621.4(DICER1):c.3007C>T (p.Arg1003Ter)SNV Pathogenic 412077 rs1060503605 14:95572101-95572101 14:95105764-95105764
5 DICER1 NM_177438.2(DICER1):c.2233C>T (p.Arg745Ter)SNV Pathogenic 412038 rs1060503584 14:95577677-95577677 14:95111340-95111340
6 DICER1 NM_030621.4(DICER1):c.1706_1710del (p.Ile569fs)deletion Pathogenic 412198 rs1060503665 14:95582832-95582836 14:95116495-95116499
7 DICER1 NM_177438.2(DICER1):c.5494C>T (p.Gln1832Ter)SNV Pathogenic 412037 rs1060503583 14:95557573-95557573 14:95091236-95091236
8 DICER1 NM_030621.4(DICER1):c.4130del (p.Pro1377fs)deletion Pathogenic 412050 rs34678453 14:95566193-95566193 14:95099856-95099856
9 DICER1 NM_177438.2(DICER1):c.3349G>T (p.Glu1117Ter)SNV Pathogenic 412104 rs1060503617 14:95570384-95570384 14:95104047-95104047
10 DICER1 NM_030621.4(DICER1):c.2953del (p.Gln985fs)deletion Pathogenic 412122 rs1060503627 14:95572412-95572412 14:95106075-95106075
11 DICER1 NM_177438.2(DICER1):c.2988-1G>TSNV Pathogenic 429116 rs1131691192 14:95572121-95572121 14:95105784-95105784
12 DICER1 NM_177438.2(DICER1):c.4638C>A (p.Tyr1546Ter)SNV Pathogenic 477210 rs773822569 14:95562619-95562619 14:95096282-95096282
13 DICER1 NM_030621.4(DICER1):c.2245_2248dup (p.Pro750fs)duplication Pathogenic 477093 rs1555371565 14:95577661-95577662 14:95111324-95111325
14 DICER1 NM_030621.4(DICER1):c.2197_2198GA[3] (p.Thr734fs)short repeat Pathogenic 477091 rs1555371596 14:95577709-95577710 14:95111372-95111373
15 DICER1 NM_030621.4(DICER1):c.1417del (p.Tyr473fs)deletion Pathogenic 477039 rs1555373228 14:95584051-95584051 14:95117714-95117714
16 DICER1 NM_030621.4(DICER1):c.1694del (p.Asp565fs)deletion Pathogenic 477053 rs1555372851 14:95582848-95582848 14:95116511-95116511
17 DICER1 NM_030621.4(DICER1):c.535del (p.Ala180fs)deletion Pathogenic 477257 rs1555375946 14:95596433-95596433 14:95130096-95130096
18 DICER1 NM_030621.4(DICER1):c.1137del (p.Lys379fs)deletion Pathogenic 477023 rs1555374734 14:95590772-95590772 14:95124435-95124435
19 DICER1 NM_177438.2(DICER1):c.823G>T (p.Glu275Ter)SNV Pathogenic 477290 rs1555375333 14:95592997-95592997 14:95126660-95126660
20 DICER1 NM_177438.2(DICER1):c.901C>T (p.Gln301Ter)SNV Pathogenic 477292 rs781144010 14:95592919-95592919 14:95126582-95126582
21 DICER1 NM_030621.4(DICER1):c.459dup (p.Val154fs)duplication Pathogenic 477209 rs1555375978 14:95596508-95596509 14:95130171-95130172
22 DICER1 NM_030621.4(DICER1):c.256del (p.Arg86fs)deletion Pathogenic 477107 rs1555376375 14:95598903-95598903 14:95132566-95132566
23 DICER1 NM_030621.4(DICER1):c.282_283dup (p.Arg95fs)duplication Pathogenic 477120 rs1555376368 14:95598875-95598876 14:95132538-95132539
24 DICER1 NM_177438.2(DICER1):c.5103C>G (p.Tyr1701Ter)SNV Pathogenic 523888 rs875989780 14:95560486-95560486 14:95094149-95094149
25 DICER1 NM_177438.2(DICER1):c.4999G>T (p.Glu1667Ter)SNV Pathogenic 543602 rs1555367522 14:95562258-95562258 14:95095921-95095921
26 DICER1 NM_030621.4(DICER1):c.2955delinsTT (p.Gln985fs)indel Pathogenic 543648 rs1555370268 14:95572410-95572410 14:95106073-95106073
27 DICER1 NM_030621.4(DICER1):c.4212del (p.Asp1405fs)deletion Pathogenic 543615 rs1555367927 14:95563045-95563045 14:95096708-95096708
28 DICER1 NM_177438.2(DICER1):c.100C>T (p.Gln34Ter)SNV Pathogenic 543565 rs1555376548 14:95599696-95599696 14:95133359-95133359
29 DICER1 NM_030621.4(DICER1):c.757dup (p.Ile253fs)duplication Pathogenic 543554 rs1555375356 14:95593062-95593063 14:95126725-95126726
30 DICER1 NM_030621.4(DICER1):c.2370_2373dup (p.Leu792fs)duplication Pathogenic 543649 rs1555370915 14:95574723-95574724 14:95108386-95108387
31 DICER1 NM_030621.4(DICER1):c.947G>A (p.Trp316Ter)SNV Pathogenic 543605 rs1555374839 14:95590962-95590962 14:95124625-95124625
32 DICER1 NM_030621.4(DICER1):c.4762del (p.Gly1587_Leu1588insTer)deletion Pathogenic 570976 rs1566754840 14:95562495-95562495 14:95096158-95096158
33 DICER1 NM_177438.2(DICER1):c.3688C>T (p.Gln1230Ter)SNV Pathogenic 576876 rs1566767799 14:95570045-95570045 14:95103708-95103708
34 DICER1 NM_177438.2(DICER1):c.1847T>A (p.Leu616Ter)SNV Pathogenic 574836 rs771634025 14:95582064-95582064 14:95115727-95115727
35 DICER1 NM_177438.2(DICER1):c.1376+1G>ASNV Pathogenic 573393 rs886037670 14:95590532-95590532 14:95124195-95124195
36 DICER1 NM_030621.4(DICER1):c.5261_5364+79deldeletion Pathogenic 580813 rs1566749829 14:95560146-95560328 14:95093809-95093991
37 DICER1 NM_001195573.1(DICER1):c.5365-117_5365-114deldeletion Pathogenic 582239 rs1566746106 14:95557560-95557563 14:95091223-95091226
38 DICER1 NM_177438.2(DICER1):c.4031C>G (p.Ser1344Ter)SNV Pathogenic 582884 rs1566766572 14:95569702-95569702 14:95103365-95103365
39 DICER1 NM_177438.2(DICER1):c.3591C>A (p.Cys1197Ter)SNV Pathogenic 576410 rs1566768212 14:95570142-95570142 14:95103805-95103805
40 DICER1 NM_030621.4(DICER1):c.3909_3910del (p.Ser1304fs)deletion Pathogenic 652078 14:95569823-95569824 14:95103486-95103487
41 DICER1 NM_030621.4(DICER1):c.3402del (p.Gln1135fs)deletion Pathogenic 663671 14:95570331-95570331 14:95103994-95103994
42 DICER1 NM_030621.4(DICER1):c.1280_1283del (p.Lys427fs)deletion Pathogenic 658250 14:95590626-95590629 14:95124289-95124292
43 DICER1 NM_177438.2(DICER1):c.2018C>G (p.Ser673Ter)SNV Pathogenic 663618 14:95579451-95579451 14:95113114-95113114
44 DICER1 NM_177438.2(DICER1):c.1501C>T (p.Gln501Ter)SNV Pathogenic 643405 14:95583967-95583967 14:95117630-95117630
45 DICER1 NC_000014.9:g.(?_95090488)_(95133468_?)deldeletion Pathogenic 655753 14:95556825-95599805 14:95090488-95133468
46 DICER1 NM_177438.2(DICER1):c.2988-20_2988deldeletion Pathogenic 660444 14:95572120-95572140 14:95105783-95105803
47 DICER1 NM_177438.3(DICER1):c.5247dup (p.Val1750fs)duplication Pathogenic 861255 14:95560341-95560342 14:95094004-95094005
48 DICER1 NM_177438.3(DICER1):c.5234_5235del (p.Phe1745fs)deletion Pathogenic 841359 14:95560354-95560355 14:95094017-95094018
49 DICER1 NM_177438.3(DICER1):c.4401_4402CT[1] (p.Ser1468fs)short repeat Pathogenic 854090 14:95562851-95562854 14:95096514-95096517
50 DICER1 NM_177438.3(DICER1):c.4049del (p.Lys1350fs)deletion Pathogenic 862376 14:95569684-95569684 14:95103347-95103347

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...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....