MCID: DCR007
MIFTS: 29

Dicer1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome

Categories: Cancer diseases, Nephrological 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 20 29 6
Dicer1 Syndrome 20 71
Dicer1-Related Pleuropulmonary Blastoma 20

Classifications:



External Ids:

UMLS 71 C3839822

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

GARD : 20 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 tumor predisposition and pleuropulmonary blastoma. An important gene associated with Dicer1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome is DICER1 (Dicer 1, Ribonuclease III). Affiliated tissues include thyroid, pituitary and cervix.

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 53)
# Related Disease Score Top Affiliating Genes
1 dicer1 tumor predisposition 11.6
2 pleuropulmonary blastoma 11.3
3 embryoma 10.5
4 nephroma 10.4
5 goiter 10.4
6 sertoli-leydig cell tumor 10.4
7 multinodular goiter 10.3
8 leydig cell tumor 10.3
9 rhabdomyosarcoma 10.3
10 embryonal rhabdomyosarcoma 10.3
11 medulloepithelioma 10.3
12 thyroid carcinoma 10.2
13 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.2
14 tumor predisposition syndrome 10.2
15 pineoblastoma 10.1
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 9.8
23 pilomatrixoma 9.8
24 medulloblastoma 9.8
25 cystic disease of lung 9.8
26 lymphoma, hodgkin, classic 9.8
27 papilloma of choroid plexus 9.8
28 retinitis pigmentosa 9.8
29 rhabdomyosarcoma, embryonal, 1 9.8
30 alacrima, achalasia, and mental retardation syndrome 9.8
31 global developmental delay, lung cysts, overgrowth, and wilms tumor 9.8
32 familial adenomatous polyposis 9.8
33 lymphoma 9.8
34 ovarian sex-cord stromal tumor 9.8
35 neuroretinitis 9.8
36 nephrocalcinosis 9.8
37 squamous cell papilloma 9.8
38 amenorrhea 9.8
39 thyroid gland cancer 9.8
40 basal cell carcinoma 9.8
41 papilloma 9.8
42 fibrosarcoma 9.8
43 atypical choroid plexus papilloma 9.8
44 retinitis 9.8
45 kidney sarcoma 9.8
46 ovarian cyst 9.8
47 nephrolithiasis 9.8
48 adenoma 9.8
49 47,xyy 9.8
50 gynandroblastoma 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...

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 DICER1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome: A Natural History Study Recruiting NCT01247597

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, Pituitary, Cervix, Eye, Ovary

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

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

(show top 50) (show all 103)
# Title Authors PMID Year
1
The clinical aspects of pituitary tumour genetics. 61
33543431 2021
2
A Cystic Renal Mass in the Setting of a Pneumothorax: More Than Meets the Eye? 61
33571543 2021
3
Gene of the month: DICER1: ruler and controller. 61
33293352 2021
4
Prevalence and spectrum of DICER1 mutations in adult-onset thyroid nodules with indeterminate cytology. 61
33460435 2021
5
An autopsy case of prostatic rhabdomyosarcoma with DICER1 hotspot mutation. 61
33112496 2021
6
Clinical Outcomes and Complications of Pituitary Blastoma. 61
33236116 2021
7
Lung cyst and multinodular thyroid goiter: Keys to DICER1 syndrome diagnosis in a 16-year-old female. 61
33363744 2020
8
A child with neuroblastoma and metachronous anaplastic sarcoma of the kidney: Underlying DICER1 syndrome? 61
32568472 2020
9
Somatic DICER1 Mutations in a Pubertal Girl with Cervical Embryonal Rhabdomyosarcoma and Papillary Thyroid Adenoma. 61
32682898 2020
10
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
11
DICER1-associated embryonal rhabdomyosarcoma and adenosarcoma of the gynecologic tract: Pathology, molecular genetics, and indications for molecular testing. 61
33135284 2020
12
A complex DICER1 syndrome phenotype associated with a germline pathogenic variant affecting the RNase IIIa domain of DICER1. 61
33208384 2020
13
A Japanese Family with DICER1 Syndrome Found in Childhood-Onset Multinodular Goitre. 61
33080613 2020
14
The Value of DICER1 Mutation Analysis in "Subtle" Diagnostically Challenging Embryonal Rhabdomyosarcomas of the Uterine Cervix. 61
33021556 2020
15
Cytomorphologic features of thyroid disease in patients with DICER1 mutations: A report of cytology-histopathology correlation in 7 patients. 61
32897650 2020
16
Outcome of two pairs of monozygotic twins with pleuropulmonary blastoma: case report. 61
33028416 2020
17
DICER1-associated metastatic abdominopelvic primitive neuroectodermal tumor with an EWSR1 rearrangement in a 16-yr-old female. 61
33028642 2020
18
Familial non-medullary thyroid carcinoma: clinico-pathological features, current knowledge and novelty regarding genetic risk factors. 61
33045820 2020
19
Dicing the Disease with Dicer: The Implications of Dicer Ribonuclease in Human Pathologies. 61
33007856 2020
20
Somatic tumour testing establishes that bilateral DICER1-associated ovarian Sertoli-Leydig cell tumours represent independent primary neoplasms. 61
32333409 2020
21
DICER1 screening in 15 paediatric paratesticular sarcomas unveils an unusual DICER1-associated sarcoma. 61
32222066 2020
22
Sertoli-Leydig cell tumor in two siblings with DICER1 syndrome: A case report and literature review. 61
32629665 2020
23
Poorly differentiated thyroid carcinoma of childhood and adolescence: a distinct entity characterized by DICER1 mutations. 61
31937902 2020
24
Embryonal Rhabdomyosarcoma of the Ovary and Fallopian Tube: Rare Neoplasms Associated With Germline and Somatic DICER1 Mutations. 61
31990691 2020
25
GABPA-dependent down-regulation of DICER1 in follicular thyroid tumours. 61
32163919 2020
26
An update on the central nervous system manifestations of DICER1 syndrome. 61
30953130 2020
27
[Hereditary predispositions to follicular thyroid tumors]. 61
32192806 2020
28
DICER1 Syndrome and Cancer Predisposition: From a Rare Pediatric Tumor to Lifetime Risk. 61
33552988 2020
29
Expanding the spectrum of dicer1-associated sarcomas. 61
31537896 2020
30
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
31
Rare Germline DICER1 Variants in Pediatric Patients With Cushing's Disease: What Is Their Role? 61
32714280 2020
32
[DICER1 constitutional pathogenic variant syndrome: Where are we in 2019?] 61
31610911 2019
33
Multinodular goitre is a gateway for molecular testing of DICER1 syndrome. 61
31408196 2019
34
Ten years of DICER1 mutations: Provenance, distribution, and associated phenotypes. 61
31342592 2019
35
Insights into pituitary tumorigenesis: from Sanger sequencing to next-generation sequencing and beyond. 61
31793361 2019
36
Imaging of DICER1 syndrome. 61
31620849 2019
37
Mesenchymal Hamartoma of the Liver and DICER1 Syndrome. Reply. 61
31390510 2019
38
Germline Genetics and Childhood Cancer: Emerging Cancer Predisposition Syndromes and Psychosocial Impacts. 61
31414239 2019
39
Mesenchymal Hamartoma of the Liver and DICER1 Syndrome. 61
31390509 2019
40
Further evidence that full gene deletions of DICER1 predispose to DICER1 syndrome. 61
30597651 2019
41
Dicer1 Phosphomimetic Promotes Tumor Progression and Dissemination. 61
30914430 2019
42
Mesenchymal Hamartoma of the Liver and DICER1 Syndrome. 61
31067372 2019
43
Neoplasm Risk Among Individuals With a Pathogenic Germline Variant in DICER1. 61
30715996 2019
44
The prevalence of germline DICER1 pathogenic variation in cancer populations. 61
30672147 2019
45
DICER1 Syndrome: Characterization of the Ocular Phenotype in a Family-Based Cohort Study. 61
30339877 2019
46
Clinical and Molecular Characteristics May Alter Treatment Strategies of Thyroid Malignancies in DICER1 Syndrome. 61
30260442 2019
47
Germline and mosaic mutations causing pituitary tumours: genetic and molecular aspects. 61
30530903 2019
48
Genetic Causes of Rare Pediatric Ovarian Tumors. 61
31409083 2019
49
DICER1 Syndrome. 61
31409088 2019
50
Identification of two 14q32 deletions involving DICER1 associated with the development of DICER1-related tumors. 61
29698806 2019

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 2118)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DICER1 NM_177438.2(DICER1):c.489C>G (p.Tyr163Ter) SNV Pathogenic 220675 rs864622626 14:95596479-95596479 14:95130142-95130142
2 DICER1 NM_177438.2(DICER1):c.2236A>G (p.Arg746Gly) SNV Pathogenic 254305 rs886037686 14:95577674-95577674 14:95111337-95111337
3 DICER1 NM_177438.2(DICER1):c.832C>T (p.Leu278Phe) SNV Pathogenic 254354 rs768248216 14:95592988-95592988 14:95126651-95126651
4 DICER1 NM_177438.2(DICER1):c.2437-2A>G SNV Pathogenic 412146 rs1060503640 14:95574432-95574432 14:95108095-95108095
5 DICER1 NM_030621.4(DICER1):c.1706_1710del (p.Ile569fs) Deletion Pathogenic 412198 rs1060503665 14:95582832-95582836 14:95116495-95116499
6 DICER1 NM_030621.4(DICER1):c.4130del (p.Pro1377fs) Deletion Pathogenic 412050 rs34678453 14:95566193-95566193 14:95099856-95099856
7 DICER1 NM_030621.4(DICER1):c.1747del (p.Glu583fs) Deletion Pathogenic 412131 rs1060503633 14:95582795-95582795 14:95116458-95116458
8 DICER1 NM_030621.4(DICER1):c.1767del (p.Lys589fs) Deletion Pathogenic 412191 rs1060503662 14:95582144-95582144 14:95115807-95115807
9 DICER1 NM_030621.4(DICER1):c.2953del (p.Gln985fs) Deletion Pathogenic 412122 rs1060503627 14:95572412-95572412 14:95106075-95106075
10 DICER1 NM_177438.2(DICER1):c.3349G>T (p.Glu1117Ter) SNV Pathogenic 412104 rs1060503617 14:95570384-95570384 14:95104047-95104047
11 DICER1 NM_177438.2(DICER1):c.5494C>T (p.Gln1832Ter) SNV Pathogenic 412037 rs1060503583 14:95557573-95557573 14:95091236-95091236
12 DICER1 NM_030621.4(DICER1):c.2507_2508del (p.Phe836fs) Deletion Pathogenic 412123 rs1060503628 14:95574359-95574360 14:95108022-95108023
13 DICER1 NM_030621.4(DICER1):c.459dup (p.Val154fs) Duplication Pathogenic 477209 rs1555375978 14:95596508-95596509 14:95130171-95130172
14 DICER1 NM_177438.2(DICER1):c.901C>T (p.Gln301Ter) SNV Pathogenic 477292 rs781144010 14:95592919-95592919 14:95126582-95126582
15 DICER1 NM_030621.4(DICER1):c.1137del (p.Lys379fs) Deletion Pathogenic 477023 rs1555374734 14:95590772-95590772 14:95124435-95124435
16 DICER1 NM_001195573.1(DICER1):c.5365-142del Deletion Pathogenic 477261 rs1555366197 14:95557588-95557588 14:95091251-95091251
17 DICER1 NM_030621.4(DICER1):c.256del (p.Arg86fs) Deletion Pathogenic 477107 rs1555376375 14:95598903-95598903 14:95132566-95132566
18 DICER1 NM_177438.2(DICER1):c.823G>T (p.Glu275Ter) SNV Pathogenic 477290 rs1555375333 14:95592997-95592997 14:95126660-95126660
19 DICER1 NM_177438.2(DICER1):c.4638C>A (p.Tyr1546Ter) SNV Pathogenic 477210 rs773822569 14:95562619-95562619 14:95096282-95096282
20 DICER1 NM_030621.4(DICER1):c.1694del (p.Asp565fs) Deletion Pathogenic 477053 rs1555372851 14:95582848-95582848 14:95116511-95116511
21 DICER1 NM_030621.4(DICER1):c.1417del (p.Tyr473fs) Deletion Pathogenic 477039 rs1555373228 14:95584051-95584051 14:95117714-95117714
22 DICER1 NM_177438.2(DICER1):c.1029dup (p.Phe344fs) Duplication Pathogenic 477022 rs1555374772 14:95590879-95590880 14:95124542-95124543
23 DICER1 NM_030621.4(DICER1):c.535del (p.Ala180fs) Deletion Pathogenic 477257 rs1555375946 14:95596433-95596433 14:95130096-95130096
24 DICER1 NM_030621.4(DICER1):c.2197_2198GA[3] (p.Thr734fs) Microsatellite Pathogenic 477091 rs1555371596 14:95577709-95577710 14:95111372-95111373
25 DICER1 NM_030621.4(DICER1):c.282_283dup (p.Arg95fs) Duplication Pathogenic 477120 rs1555376368 14:95598875-95598876 14:95132538-95132539
26 DICER1 NM_030621.4(DICER1):c.757dup (p.Ile253fs) Duplication Pathogenic 543554 rs1555375356 14:95593062-95593063 14:95126725-95126726
27 DICER1 NM_177438.2(DICER1):c.100C>T (p.Gln34Ter) SNV Pathogenic 543565 rs1555376548 14:95599696-95599696 14:95133359-95133359
28 DICER1 NM_177438.3(DICER1):c.4401_4402CT[2] (p.Leu1469fs) Microsatellite Pathogenic 422631 rs1064795904 14:95562851-95562852 14:95096514-95096515
29 DICER1 NM_030621.4(DICER1):c.4212del (p.Asp1405fs) Deletion Pathogenic 543615 rs1555367927 14:95563045-95563045 14:95096708-95096708
30 DICER1 NM_030621.4(DICER1):c.2955delinsTT (p.Gln985fs) Indel Pathogenic 543648 rs1555370268 14:95572410-95572410 14:95106073-95106073
31 DICER1 NM_030621.4(DICER1):c.2370_2373dup (p.Leu792fs) Duplication Pathogenic 543649 rs1555370915 14:95574723-95574724 14:95108386-95108387
32 DICER1 NM_030621.4(DICER1):c.947G>A (p.Trp316Ter) SNV Pathogenic 543605 rs1555374839 14:95590962-95590962 14:95124625-95124625
33 DICER1 NM_030621.4(DICER1):c.4762del (p.Gly1587_Leu1588insTer) Deletion Pathogenic 570976 rs1566754840 14:95562495-95562495 14:95096158-95096158
34 DICER1 NM_177438.2(DICER1):c.1376+1G>A SNV Pathogenic 573393 rs886037670 14:95590532-95590532 14:95124195-95124195
35 DICER1 NM_177438.2(DICER1):c.2988-1G>T SNV Pathogenic 429116 rs1131691192 14:95572121-95572121 14:95105784-95105784
36 DICER1 NM_177438.2(DICER1):c.3688C>T (p.Gln1230Ter) SNV Pathogenic 576876 rs1566767799 14:95570045-95570045 14:95103708-95103708
37 DICER1 NM_177438.2(DICER1):c.4031C>G (p.Ser1344Ter) SNV Pathogenic 582884 rs1566766572 14:95569702-95569702 14:95103365-95103365
38 DICER1 NM_177438.2(DICER1):c.1501C>T (p.Gln501Ter) SNV Pathogenic 643405 rs1595414962 14:95583967-95583967 14:95117630-95117630
39 DICER1 NM_030621.4(DICER1):c.3957dup (p.Asp1320fs) Duplication Pathogenic 575211 rs1566766788 14:95569775-95569776 14:95103438-95103439
40 DICER1 NM_177438.2(DICER1):c.5103C>G (p.Tyr1701Ter) SNV Pathogenic 523888 rs875989780 14:95560486-95560486 14:95094149-95094149
41 DICER1 NM_177438.2(DICER1):c.1847T>A (p.Leu616Ter) SNV Pathogenic 574836 rs771634025 14:95582064-95582064 14:95115727-95115727
42 DICER1 NM_177438.2(DICER1):c.3591C>A (p.Cys1197Ter) SNV Pathogenic 576410 rs1566768212 14:95570142-95570142 14:95103805-95103805
43 DICER1 NM_030621.4(DICER1):c.238G>T (p.Glu80Ter) SNV Pathogenic 649946 rs1595466234 14:95598921-95598921 14:95132584-95132584
44 DICER1 NM_030621.4(DICER1):c.3909_3910del (p.Ser1304fs) Deletion Pathogenic 652078 rs1595364159 14:95569823-95569824 14:95103486-95103487
45 DICER1 NM_030621.4(DICER1):c.5261_5364+79del Deletion Pathogenic 580813 rs1566749829 14:95560146-95560328 14:95093809-95093991
46 DICER1 NC_000014.9:g.(?_95090488)_(95133468_?)del Deletion Pathogenic 655753 14:95556825-95599805 14:95090488-95133468
47 DICER1 NM_030621.4(DICER1):c.4458dup (p.Ser1487fs) Duplication Pathogenic 429122 rs1131691197 14:95562798-95562799 14:95096461-95096462
48 DICER1 NM_177438.2(DICER1):c.2988-20_2988del Deletion Pathogenic 660444 rs1595372924 14:95572120-95572140 14:95105783-95105803
49 DICER1 NM_030621.4(DICER1):c.3402del (p.Gln1135fs) Deletion Pathogenic 663671 rs1595367266 14:95570331-95570331 14:95103994-95103994
50 DICER1 NM_030621.4(DICER1):c.1280_1283del (p.Lys427fs) Deletion Pathogenic 658250 rs1595438347 14:95590626-95590629 14:95124289-95124292

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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