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-related disorders. An important gene associated with Dicer1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome is DICER1 (Dicer 1, Ribonuclease III). Affiliated tissues include thyroid, kidney and lung.

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 49)
# Related Disease Score Top Affiliating Genes
1 pleuropulmonary blastoma 11.9
2 dicer1-related disorders 11.8
3 embryoma 10.5
4 cystic nephroma 10.5
5 goiter 10.4
6 sertoli-leydig cell tumor 10.4
7 multinodular goiter 10.3
8 rhabdomyosarcoma 10.3
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 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 arachnoid cysts, intracranial 9.9
25 lymphoma, hodgkin, classic 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 neuroblastoma 9.9
47 47,xyy 9.9
48 soft tissue sarcoma 9.9
49 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, Kidney, Lung, 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 77)
# Title Authors PMID Year
1
Expanding the spectrum of dicer1-associated sarcomas. 61
31537896 2020
2
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
3
Embryonal Rhabdomyosarcoma of the Ovary and Fallopian Tube: Rare Neoplasms Associated With Germline and Somatic DICER1 Mutations. 61
31990691 2020
4
Poorly differentiated thyroid carcinoma of childhood and adolescence: a distinct entity characterized by DICER1 mutations. 61
31937902 2020
5
[DICER1 constitutional pathogenic variant syndrome: Where are we in 2019?] 61
31610911 2019
6
Ten years of DICER1 mutations: Provenance, distribution, and associated phenotypes. 61
31342592 2019
7
Multinodular goitre is a gateway for molecular testing of DICER1 syndrome. 61
31408196 2019
8
Insights into pituitary tumorigenesis: from Sanger sequencing to next-generation sequencing and beyond. 61
31793361 2019
9
Imaging of DICER1 syndrome. 61
31620849 2019
10
Mesenchymal Hamartoma of the Liver and DICER1 Syndrome. 61
31390509 2019
11
Mesenchymal Hamartoma of the Liver and DICER1 Syndrome. Reply. 61
31390510 2019
12
Germline Genetics and Childhood Cancer: Emerging Cancer Predisposition Syndromes and Psychosocial Impacts. 61
31414239 2019
13
Further evidence that full gene deletions of DICER1 predispose to DICER1 syndrome. 61
30597651 2019
14
Dicer1 Phosphomimetic Promotes Tumor Progression and Dissemination. 61
30914430 2019
15
Mesenchymal Hamartoma of the Liver and DICER1 Syndrome. 61
31067372 2019
16
An update on the central nervous system manifestations of DICER1 syndrome. 61
30953130 2019
17
Neoplasm Risk Among Individuals With a Pathogenic Germline Variant in DICER1. 61
30715996 2019
18
The prevalence of germline DICER1 pathogenic variation in cancer populations. 61
30672147 2019
19
Clinical and Molecular Characteristics May Alter Treatment Strategies of Thyroid Malignancies in DICER1 Syndrome. 61
30260442 2019
20
DICER1 Syndrome: Characterization of the Ocular Phenotype in a Family-Based Cohort Study. 61
30339877 2019
21
Germline and mosaic mutations causing pituitary tumours: genetic and molecular aspects. 61
30530903 2019
22
Identification of two 14q32 deletions involving DICER1 associated with the development of DICER1-related tumors. 61
29698806 2019
23
Genetic Causes of Rare Pediatric Ovarian Tumors. 61
31409083 2019
24
DICER1 Syndrome. 61
31409088 2019
25
Structural renal abnormalities in the DICER1 syndrome: a family-based cohort study. 61
30178239 2018
26
[DICER1 mutated, solid/trabecular thyroid papillary carcinoma in an 11-year-old child]. 61
29884466 2018
27
Revisiting pleuropulmonary blastoma and atypical choroid plexus papilloma in a young child: DICER1 syndrome or not? 61
29943907 2018
28
An update on the genetics of benign pituitary adenomas in children and adolescents. 61
30555957 2018
29
Second primary rhabdomyosarcoma of the uterine cervix presenting with synchronous ovarian Sertoli-Leydig cell tumor: An illustrative case of DICER1 syndrome. 61
30014022 2018
30
Analysis of DICER1 in familial and sporadic cases of transposition of the great arteries. 61
29399970 2018
31
DICER1 Syndrome: DICER1 Mutations in Rare Cancers. 61
29762508 2018
32
Multiple DICER1-related tumors in a child with a large interstitial 14q32 deletion. 61
29315962 2018
33
Three synchronous malignancies in a patient with DICER1 syndrome. 61
29395683 2018
34
Multinodular Goiter Progression Toward Malignancy in a Case of DICER1 Syndrome: Histologic and Molecular Alterations. 61
29538609 2018
35
Genomics of a pediatric ovarian fibrosarcoma. Association with the DICER1 syndrome. 61
29459759 2018
36
Familial multinodular goiter and Sertoli-Leydig cell tumors associated with a large intragenic in-frame DICER1 deletion. 61
29187512 2018
37
Uncommon hereditary gynaecological tumour syndromes: pathological features in tumours that may predict risk for a germline mutation. 61
29373116 2018
38
A Case Report of Syndromic Multinodular Goitre in Adolescence: Exploring the Phenotype Overlap between Cowden and DICER1 Syndromes. 61
29594054 2018
39
Anaplastic sarcomas of the kidney are characterized by DICER1 mutations. 61
28862265 2018
40
A case of neuroblastoma in DICER1 syndrome: Chance finding or noncanonical causation? 61
28766837 2018
41
DICER1 syndrome: Approach to testing and management at a large pediatric tertiary care center. 61
28960912 2018
42
A pair of DICER1-positive monozygotic twins: One with pleuropulmonary blastoma, another with acute transient hepatitis. 61
28688118 2017
43
The prevalence of DICER1 pathogenic variation in population databases. 61
28748527 2017
44
Pediatric imaging in DICER1 syndrome. 61
28474256 2017
45
Type III pleuropulmonary blastoma in a dicer1 germline mutation carrier: The management of residual lung cystic lesions. 61
28097783 2017
46
Embryonal rhabdomyosarcoma in a patient with a heterozygous frameshift variant in the DICER1 gene and additional manifestations of the DICER1 syndrome. 61
27896549 2017
47
Multimorbidity and Genetic Characteristics of DICER1 Syndrome Based on Systematic Review. 61
27906793 2017
48
Quantification of Thyroid Cancer and Multinodular Goiter Risk in the DICER1 Syndrome: A Family-Based Cohort Study. 61
28323992 2017
49
Macrocephaly associated with the DICER1 syndrome. 61
27441995 2017
50
Identification of somatic and germ-line DICER1 mutations in pleuropulmonary blastoma, cystic nephroma and rhabdomyosarcoma tumors within a DICER1 syndrome pedigree. 61
28222777 2017

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

ClinVar genetic disease variations for Dicer1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome:

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# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DICER1 NM_177438.2(DICER1):c.4754C>G (p.Ser1585Ter)SNV Pathogenic 225883 rs875989779 14:95562503-95562503 14:95096166-95096166
2 DICER1 NM_177438.2(DICER1):c.4407_4410del (p.Ser1470fs)deletion Pathogenic 225888 rs875989784 14:95562847-95562850 14:95096510-95096513
3 DICER1 NM_177438.2(DICER1):c.4748T>G (p.Leu1583Arg)SNV Pathogenic 4468 rs137852976 14:95562509-95562509 14:95096172-95096172
4 DICER1 NM_177438.2(DICER1):c.1507G>T (p.Glu503Ter)SNV Pathogenic 4469 rs137852977 14:95583961-95583961 14:95117624-95117624
5 DICER1 NM_177438.2(DICER1):c.2830C>T (p.Arg944Ter)SNV Pathogenic 4470 rs137852978 14:95572535-95572535 14:95106198-95106198
6 DICER1 NM_177438.2(DICER1):c.1630C>T (p.Arg544Ter)SNV Pathogenic 4472 rs137852979 14:95582912-95582912 14:95116575-95116575
7 DICER1 NM_177438.2(DICER1):c.559C>T (p.Arg187Ter)SNV Pathogenic 220676 rs763801533 14:95596409-95596409 14:95130072-95130072
8 DICER1 NM_177438.2(DICER1):c.489C>G (p.Tyr163Ter)SNV Pathogenic 220675 rs864622626 14:95596479-95596479 14:95130142-95130142
9 DICER1 NM_177438.2(DICER1):c.5315_5316del (p.Phe1772fs)deletion Pathogenic 242134 rs878855274 14:95560273-95560274 14:95093936-95093937
10 DICER1 NM_177438.2(DICER1):c.4004dup (p.Tyr1335Ter)duplication Pathogenic 242098 rs878855262 14:95569728-95569729 14:95103391-95103392
11 DICER1 NM_177438.2(DICER1):c.2026C>T (p.Arg676Ter)SNV Pathogenic 242054 rs878855246 14:95579443-95579443 14:95113106-95113106
12 DICER1 NM_177438.2(DICER1):c.5465A>T (p.Asp1822Val)SNV Pathogenic 254350 rs886037729 14:95557602-95557602 14:95091265-95091265
13 DICER1 NM_177438.2(DICER1):c.5394del (p.Glu1799fs)deletion Pathogenic 254349 rs886037728 14:95557673-95557673 14:95091336-95091336
14 DICER1 NM_177438.2(DICER1):c.5096-498_5364+356deldeletion Pathogenic 254343 14:95559869-95560991 14:95093532-95094654
15 DICER1 NM_177438.2(DICER1):c.5299del (p.His1767fs)deletion Pathogenic 254348 rs886037727 14:95560290-95560290 14:95093953-95093953
16 DICER1 NM_177438.2(DICER1):c.5251_5255del (p.Lys1751fs)deletion Pathogenic 254347 rs886037726 14:95560334-95560338 14:95093997-95094001
17 DICER1 NM_177438.2(DICER1):c.5194dup (p.Leu1732fs)duplication Pathogenic 254346 rs886037725 14:95560394-95560395 14:95094057-95094058
18 DICER1 NM_177438.2(DICER1):c.5123G>A (p.Gly1708Glu)SNV Pathogenic 254345 rs886037724 14:95560466-95560466 14:95094129-95094129
19 DICER1 NM_177438.2(DICER1):c.5104C>T (p.Gln1702Ter)SNV Pathogenic 254344 rs886037723 14:95560485-95560485 14:95094148-95094148
20 DICER1 NM_177438.2(DICER1):c.5095+1G>CSNV Pathogenic 254342 rs886037722 14:95562161-95562161 14:95095824-95095824
21 DICER1 NM_177438.2(DICER1):c.5053C>T (p.Gln1685Ter)SNV Pathogenic 254341 rs886037721 14:95562204-95562204 14:95095867-95095867
22 DICER1 NM_177438.2(DICER1):c.4960_4961dup (p.Asp1654fs)duplication Pathogenic 254340 rs886037720 14:95562295-95562296 14:95095958-95095959
23 DICER1 NM_177438.2(DICER1):c.4626del (p.Gln1542fs)deletion Pathogenic 254339 rs886037719 14:95562631-95562631 14:95096294-95096294
24 DICER1 NM_177438.2(DICER1):c.4621A>T (p.Lys1541Ter)SNV Pathogenic 254338 rs886037718 14:95562636-95562636 14:95096299-95096299
25 DICER1 NM_030621.4(DICER1):c.4603_4604TG[1] (p.Cys1535fs)short repeat Pathogenic 254337 rs886037717 14:95562651-95562652 14:95096314-95096315
26 DICER1 NM_177438.2(DICER1):c.4517G>A (p.Trp1506Ter)SNV Pathogenic 254336 rs886037716 14:95562740-95562740 14:95096403-95096403
27 DICER1 NM_177438.2(DICER1):c.4511del (p.Ser1504fs)deletion Pathogenic 254335 rs886037715 14:95562746-95562746 14:95096409-95096409
28 DICER1 NM_177438.2(DICER1):c.4426_4427insT (p.Asp1476fs)insertion Pathogenic 254334 rs886037714 14:95562830-95562831 14:95096493-95096494
29 DICER1 NM_177438.2(DICER1):c.4407_4408del (p.Pro1471fs)deletion Pathogenic 254333 rs886037713 14:95562849-95562850 14:95096512-95096513
30 DICER1 NM_177438.2(DICER1):c.4309_4312del (p.Asp1437fs)deletion Pathogenic 254332 rs886037712 14:95562945-95562948 14:95096608-95096611
31 DICER1 NM_177438.2(DICER1):c.4190G>A (p.Trp1397Ter)SNV Pathogenic 254331 rs886037711 14:95566133-95566133 14:95099796-95099796
32 DICER1 NM_177438.2(DICER1):c.3875_3878del (p.Pro1292fs)deletion Pathogenic 254330 rs886037710 14:95569855-95569858 14:95103518-95103521
33 DICER1 NM_177438.2(DICER1):c.3777dup (p.Val1260fs)duplication Pathogenic 254329 rs886037709 14:95569955-95569956 14:95103618-95103619
34 DICER1 NM_177438.2(DICER1):c.3726C>A (p.Tyr1242Ter)SNV Pathogenic 254328 rs886037708 14:95570007-95570007 14:95103670-95103670
35 DICER1 NM_177438.2(DICER1):c.3676G>T (p.Glu1226Ter)SNV Pathogenic 254327 rs748087536 14:95570057-95570057 14:95103720-95103720
36 DICER1 NM_177438.2(DICER1):c.3658C>T (p.Gln1220Ter)SNV Pathogenic 254326 rs886037707 14:95570075-95570075 14:95103738-95103738
37 DICER1 NM_177438.2(DICER1):c.3589del (p.Cys1197fs)deletion Pathogenic 254325 rs886037706 14:95570144-95570144 14:95103807-95103807
38 DICER1 NM_177438.2(DICER1):c.3579_3580del (p.Asn1193fs)deletion Pathogenic 254324 rs886037705 14:95570153-95570154 14:95103816-95103817
39 DICER1 NM_177438.2(DICER1):c.3540C>A (p.Tyr1180Ter)SNV Pathogenic 254323 rs886037704 14:95570193-95570193 14:95103856-95103856
40 DICER1 NM_177438.2(DICER1):c.3538_3539del (p.Tyr1180fs)deletion Pathogenic 254322 rs886037703 14:95570194-95570195 14:95103857-95103858
41 DICER1 NM_177438.2(DICER1):c.3534_3535insAA (p.Ser1179fs)insertion Pathogenic 254321 rs886037702 14:95570198-95570199 14:95103861-95103862
42 DICER1 NM_177438.2(DICER1):c.3515_3525delinsA (p.Leu1172fs)indel Pathogenic 254320 rs886037701 14:95570208-95570218 14:95103871-95103881
43 DICER1 NM_177438.2(DICER1):c.3300del (p.Lys1100fs)deletion Pathogenic 254319 rs886037700 14:95570433-95570433 14:95104096-95104096
44 DICER1 NM_177438.2(DICER1):c.3277_3280del (p.Pro1092_Asn1093insTer)deletion Pathogenic 254318 rs886037699 14:95570453-95570456 14:95104116-95104119
45 DICER1 NM_177438.2(DICER1):c.3273C>G (p.Tyr1091Ter)SNV Pathogenic 254317 rs886037698 14:95570460-95570460 14:95104123-95104123
46 DICER1 NM_177438.2(DICER1):c.3175dup (p.Tyr1059fs)duplication Pathogenic 254316 rs886037697 14:95571501-95571502 14:95105164-95105165
47 DICER1 NM_177438.2(DICER1):c.3135_3137delinsTGAACTCATG (p.Ser1046fs)indel Pathogenic 254315 rs886037696 14:95571540-95571542 14:95105203-95105205
48 DICER1 NM_177438.2(DICER1):c.2888_2889del (p.Pro963fs)deletion Pathogenic 254314 rs886037695 14:95572476-95572477 14:95106139-95106140
49 DICER1 NM_030621.4(DICER1):c.2867_2869delinsAA (p.Pro956fs)indel Pathogenic 254313 rs886037694 14:95572496-95572498 14:95106159-95106161
50 DICER1 NM_177438.2(DICER1):c.2863del (p.Thr955fs)deletion Pathogenic 254312 rs886037693 14:95572502-95572502 14:95106165-95106165

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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