MCID: DCR009
MIFTS: 26

Dicer1-Related Disorders

Categories: Cancer diseases, Endocrine diseases, Genetic diseases

Aliases & Classifications for Dicer1-Related Disorders

MalaCards integrated aliases for Dicer1-Related Disorders:

Name: Dicer1-Related Disorders 24
Dicer1 Syndrome 24 25 72
Dicer1-Pleuropulmonary Blastoma Familial Tumor Predisposition Syndrome 24
Dicer1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome 25
Pleuropulmonary Blastoma Familial Tumor and Dysplasia Syndrome 25
Pleuropulmonary Blastoma Family Tumor Susceptibility Syndrome 25

Characteristics:

GeneReviews:

24
Penetrance The penetrance of heterozygous germline dicer1 pathogenic variants appears to be reduced; however, the penetrance for any specific dicer1-related disorder is not known. while it is uncommon to have more than one individual in a family diagnosed with ppb, some of the other conditions associated with a germline dicer1 pathogenic variant (e.g., nodular hyperplasia of the thyroid, benign lung cysts) may have higher penetrance.

Classifications:



External Ids:

UMLS 72 C3839822

Summaries for Dicer1-Related Disorders

Genetics Home Reference : 25 DICER1 syndrome is an inherited disorder that increases the risk of a variety of cancerous and noncancerous (benign) tumors, most commonly certain types of tumors that occur in the lungs, kidneys, ovaries, and thyroid (a butterfly-shaped gland in the lower neck). Affected individuals can develop one or more types of tumors, and members of the same family can have different types. However, the risk of tumor formation in individuals with DICER1 syndrome is only moderately increased compared with tumor risk in the general population; most individuals with genetic changes associated with this condition never develop tumors. DICER1 DICER1 People with DICER1 syndrome who develop tumors most commonly develop pleuropulmonary blastoma, which is characterized by tumors that grow in lung tissue or in the outer covering of the lungs (the pleura). These tumors occur in infants and young children and are rare in adults. Pleuropulmonary blastoma is classified as one of three types on the basis of tumor characteristics: in type I, the growths are composed of air-filled pockets called cysts; in type II, the growths contain both cysts and solid tumors (or nodules); and in type III, the growth is a solid tumor that can fill a large portion of the chest. Pleuropulmonary blastoma is considered cancerous, and types II and III can spread (metastasize), often to the brain, liver, or bones. Individuals with pleuropulmonary blastoma may also develop an abnormal accumulation of air in the chest cavity that can lead to the collapse of a lung (pneumothorax). DICER1 Cystic nephroma, which involves multiple benign fluid-filled cysts in the kidneys, can also occur; in people with DICER1 syndrome, the cysts develop early in childhood. DICER1 DICER1 syndrome is also associated with tumors in the ovaries known as Sertoli-Leydig cell tumors, which typically develop in affected women in their teens or twenties. Some Sertoli-Leydig cell tumors release the male sex hormone testosterone; in these cases, affected women may develop facial hair, a deep voice, and other male characteristics. Some affected women have irregular menstrual cycles. Sertoli-Leydig cell tumors usually do not metastasize. DICER1 People with DICER1 syndrome are also at risk of multinodular goiter, which is enlargement of the thyroid gland caused by the growth of multiple fluid-filled or solid tumors (both referred to as nodules). The nodules are generally slow-growing and benign. Despite the growths, the thyroid's function is often normal. Rarely, individuals with DICER1 syndrome develop thyroid cancer (thyroid carcinoma). DICER1 DICER1

MalaCards based summary : Dicer1-Related Disorders, also known as dicer1 syndrome, is related to dicer1-related pleuropulmonary blastoma cancer predisposition syndrome and tumor predisposition syndrome. An important gene associated with Dicer1-Related Disorders is DICER1 (Dicer 1, Ribonuclease III). Affiliated tissues include thyroid, lung and liver.

GeneReviews: NBK196157

Related Diseases for Dicer1-Related Disorders

Diseases related to Dicer1-Related Disorders via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 54)
# Related Disease Score Top Affiliating Genes
1 dicer1-related pleuropulmonary blastoma cancer predisposition syndrome 12.3
2 tumor predisposition syndrome 10.4
3 differentiated thyroid carcinoma 10.1
4 rare tumor 10.1
5 goiter, multinodular 1, with or without sertoli-leydig cell tumors 10.1
6 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.1
7 pleuropulmonary blastoma 10.1
8 multinodular goiter 10.1
9 goiter 10.1
10 pineoblastoma 10.1
11 cystic nephroma 10.1
12 leydig cell tumor 10.1
13 sertoli-leydig cell tumor 10.1
14 embryonal rhabdomyosarcoma 10.1
15 rhabdomyosarcoma 10.1
16 embryoma 10.1
17 medulloepithelioma 10.1
18 juvenile type testicular granulosa cell tumor 10.1
19 gynandroblastoma 10.1
20 thyroid carcinoma 10.1
21 overgrowth syndrome 10.0
22 basal cell nevus syndrome 9.9
23 pilomatrixoma 9.9
24 medulloblastoma 9.9
25 nephrolithiasis, calcium oxalate 9.9
26 thyroid cancer, nonmedullary, 1 9.9
27 lymphoma, hodgkin, classic 9.9
28 neuroblastoma 1 9.9
29 papilloma of choroid plexus 9.9
30 retinitis pigmentosa 9.9
31 rhabdomyosarcoma, embryonal, 1 9.9
32 familial adenomatous polyposis 9.9
33 lymphoma 9.9
34 ovarian sex-cord stromal tumor 9.9
35 neuroretinitis 9.9
36 sarcoma 9.9
37 nephrocalcinosis 9.9
38 squamous cell papilloma 9.9
39 sex cord-gonadal stromal tumor 9.9
40 basal cell carcinoma 9.9
41 papilloma 9.9
42 fibrosarcoma 9.9
43 atypical choroid plexus papilloma 9.9
44 retinitis 9.9
45 thyroid gland papillary carcinoma 9.9
46 spindle cell sarcoma 9.9
47 kidney sarcoma 9.9
48 cowden syndrome 9.9
49 47,xyy 9.9
50 arachnoid cysts 9.9

Graphical network of the top 20 diseases related to Dicer1-Related Disorders:



Diseases related to Dicer1-Related Disorders

Symptoms & Phenotypes for Dicer1-Related Disorders

Drugs & Therapeutics for Dicer1-Related Disorders

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 Disorders

Genetic Tests for Dicer1-Related Disorders

Anatomical Context for Dicer1-Related Disorders

MalaCards organs/tissues related to Dicer1-Related Disorders:

41
Thyroid, Lung, Liver, Kidney, Ovary, Brain, Bone

Publications for Dicer1-Related Disorders

Articles related to Dicer1-Related Disorders:

(show top 50) (show all 122)
# Title Authors PMID Year
1
DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome. 38 4
21266384 2011
2
Exome sequencing of pleuropulmonary blastoma reveals frequent biallelic loss of TP53 and two hits in DICER1 resulting in retention of 5p-derived miRNA hairpin loop sequences. 4
24909177 2014
3
DICER1 mutations in childhood cystic nephroma and its relationship to DICER1-renal sarcoma. 4
24481001 2014
4
Germ-line deletion in DICER1 revealed by a novel MLPA assay using synthetic oligonucleotides. 4
24065110 2014
5
Germ-line and somatic DICER1 mutations in a pleuropulmonary blastoma. 4
23868280 2013
6
Ciliary body medulloepithelioma: analysis of 41 cases. 4
23796765 2013
7
Ciliary body medulloepithelioma associated with pleuropulmonary blastoma. 4
23613510 2013
8
Biallelic DICER1 mutations occur in Wilms tumours. 4
23620094 2013
9
Cancer-associated somatic DICER1 hotspot mutations cause defective miRNA processing and reverse-strand expression bias to predominantly mature 3p strands through loss of 5p strand cleavage. 4
23132766 2013
10
Let-7a down-regulation plays a role in thyroid neoplasias of follicular histotype affecting cell adhesion and migration through its ability to target the FXYD5 (Dysadherin) gene. 4
22965940 2012
11
DICER1 RNase IIIb domain mutations are infrequent in testicular germ cell tumours. 4
23068969 2012
12
Pituitary blastoma: a unique embryonal tumor. 4
21805093 2012
13
DICER1 mutations in embryonal rhabdomyosarcomas from children with and without familial PPB-tumor predisposition syndrome. 4
22180160 2012
14
Germline DICER1 mutation and associated loss of heterozygosity in a pineoblastoma. 4
22717647 2012
15
In vivo structure-function analysis of human Dicer reveals directional processing of precursor miRNAs. 4
22546613 2012
16
Management of ovarian and testicular sex cord-stromal tumors in children and adolescents. 4
22525408 2012
17
Embryonal rhabdomyosarcoma of the uterine cervix: a report of 14 cases and a discussion of its unusual clinicopathological associations. 4
22157934 2012
18
Recurrent somatic DICER1 mutations in nonepithelial ovarian cancers. 4
22187960 2012
19
Molecular pathogenesis of nodular goiter. 4
21487943 2011
20
Extending the phenotypes associated with DICER1 mutations. 4
21882293 2011
21
Ovarian sex cord-stromal tumors, pleuropulmonary blastoma and DICER1 mutations: a report from the International Pleuropulmonary Blastoma Registry. 4
21501861 2011
22
Classic biphasic pulmonary blastoma: a case report and review of the literature. 4
21513998 2011
23
Ciliary body medulloepithelioma: four cases associated with pleuropulmonary blastoma--a report from the International Pleuropulmonary Blastoma Registry. 4
21156700 2011
24
Contemporary management of pineoblastoma. 4
21801990 2011
25
DICER1 mutations in familial multinodular goiter with and without ovarian Sertoli-Leydig cell tumors. 4
21205968 2011
26
Discriminating preoperative features of pleuropulmonary blastomas (PPB) from congenital cystic adenomatoid malformations (CCAM): a retrospective, age-matched study. 4
21104589 2011
27
Fetal lung interstitial tumor (FLIT): A proposed newly recognized lung tumor of infancy to be differentiated from cystic pleuropulmonary blastoma and other developmental pulmonary lesions. 4
21107081 2010
28
Germline DICER1 mutations and familial cystic nephroma. 4
21036787 2010
29
Nasal chondromesenchymal hamartoma in children with pleuropulmonary blastoma--A report from the International Pleuropulmonary Blastoma Registry registry. 4
20822816 2010
30
Cystic primary pulmonary synovial sarcoma presenting as recurrent pneumothorax: report of 4 cases. 4
20661015 2010
31
DICER1 mutations in familial pleuropulmonary blastoma. 4
19556464 2009
32
Pulmonary cysts in early childhood and the risk of malignancy. 4
19061226 2009
33
Pediatric thyroid cancer arising as a fourth cancer in a child with pleuropulmonary blastoma. 4
18000857 2008
34
Pediatric thyroid cancer arising after treatment for pleuropulmonary blastoma. 4
17514738 2008
35
Cystic lung disease. 4
18158136 2008
36
Cerebral metastasis and other central nervous system complications of pleuropulmonary blastoma. 4
16807914 2007
37
Lung cysts, spontaneous pneumothorax, and genetic associations in 89 families with Birt-Hogg-Dubé syndrome. 4
17322109 2007
38
Prognostic factors in pleuro-pulmonary blastoma. 4
16619221 2007
39
Recurrent gynandroblastoma of ovary-A case report: a molecular and immunohistochemical analysis. 4
17197894 2007
40
Complete remission of an unrectable pleuropulmonary blastoma in an adult after radiation therapy. 4
17149007 2006
41
Type I pleuropulmonary blastoma: a report from the International Pleuropulmonary Blastoma Registry. 4
16983119 2006
42
Medulloepithelioma of the ciliary body and optic nerve: clinicopathologic, CT, and MR imaging features. 4
15927861 2005
43
Ovarian sex cord-stromal tumors in children and adolescents. 4
12805338 2003
44
Therapy of advanced ovarian juvenile granulosa cell tumors. 4
12165898 2002
45
Fine-needle aspiration cytology of pleuropulmonary blastoma: a case report with unusual features. 4
11747237 2001
46
Pleuropulmonary blastoma in an adult: an initial case report. 4
10357407 1999
47
Pleuropulmonary blastoma: a clinicopathologic study of 50 cases. 4
9210721 1997
48
Congenital neoplasms of the nonpigmented ciliary epithelium (medulloepithelioma). 4
9003333 1996
49
[Multinodular goiter. Epidemiology and prevention]. 4
9019982 1996
50
Survival and prognostic factors following radiation and/or chemotherapy for primitive neuroectodermal tumors of the pineal region in infants and children: a report of the Childrens Cancer Group. 4
7751882 1995

Variations for Dicer1-Related Disorders

Cosmic variations for Dicer1-Related Disorders:

9 (show all 22)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM10704 TP53 lung,NS,carcinoma,blastoma c.844C>T p.R282W 17:7673776-7673776 3
2 COSM10659 TP53 lung,NS,carcinoma,blastoma c.817C>T p.R273C 17:7673803-7673803 3
3 COSM44561 TP53 lung,NS,carcinoma,blastoma c.454C>A p.P152T 17:7675158-7675158 3
4 COSM43559 TP53 lung,NS,carcinoma,blastoma c.517G>T p.V173L 17:7675095-7675095 3
5 COSM44288 TP53 lung,NS,carcinoma,blastoma c.452C>T p.P151L 17:7675160-7675160 3
6 COSM43778 TP53 lung,NS,carcinoma,blastoma c.713G>T p.C238F 17:7674250-7674250 3
7 COSM44776 TP53 lung,NS,carcinoma,blastoma c.535C>G p.H179D 17:7675077-7675077 3
8 COSM7335311 SMARCA4 lung,NS,carcinoma,blastoma c.2441C>G p.T814R 19:11018959-11018959 3
9 COSM521 KRAS lung,NS,carcinoma,blastoma c.35G>A p.G12D 12:25245350-25245350 3
10 COSM959249 DICER1 lung,NS,carcinoma,blastoma c.5125G>A p.D1709N 14:95094127-95094127 3
11 COSM4169519 DICER1 lung,NS,carcinoma,blastoma c.5438A>T p.E1813V 14:95091292-95091292 3
12 COSM5878727 DICER1 lung,NS,carcinoma,blastoma c.1232C>A p.S411* 14:95124340-95124340 3
13 COSM4169595 DICER1 lung,NS,carcinoma,blastoma c.5425G>A p.G1809R 14:95091305-95091305 3
14 COSM5694 CTNNB1 lung,NS,carcinoma,blastoma c.86C>T p.S29F 3:41224598-41224598 3
15 COSM5662 CTNNB1 lung,NS,carcinoma,blastoma c.110C>T p.S37F 3:41224622-41224622 3
16 COSM5669 CTNNB1 lung,NS,carcinoma,blastoma c.98C>T p.S33F 3:41224610-41224610 3
17 COSM5661 CTNNB1 lung,NS,carcinoma,blastoma c.94G>T p.D32Y 3:41224606-41224606 3
18 COSM5677 CTNNB1 lung,NS,carcinoma,blastoma c.98C>G p.S33C 3:41224610-41224610 3
19 COSM5679 CTNNB1 lung,NS,carcinoma,blastoma c.110C>G p.S37C 3:41224622-41224622 3
20 COSM5686 CTNNB1 lung,NS,carcinoma,blastoma c.100G>A p.G34R 3:41224612-41224612 3
21 COSM7335313 CTNNB1 lung,NS,carcinoma,blastoma c.1049G>A p.C350Y 3:41227320-41227320 3
22 COSM7335421 BAP1 lung,NS,carcinoma,blastoma c.1938T>G p.Y646* 3:52402824-52402824 3

Expression for Dicer1-Related Disorders

Search GEO for disease gene expression data for Dicer1-Related Disorders.

Pathways for Dicer1-Related Disorders

GO Terms for Dicer1-Related Disorders

Sources for Dicer1-Related Disorders

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
37 KEGG
38 LifeMap
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44 MeSH
45 MESH via Orphanet
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49 NCI
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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