MCID: DCR007
MIFTS: 12

Dicer1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome

Categories: Rare diseases, Cancer 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 50 29
Dicer1 Syndrome 50 69
Dicer1-Related Pleuropulmonary Blastoma 50

Classifications:



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

NIH Rare Diseases : 50 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. last updated: 8/25/2015

MalaCards based summary : Dicer1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome, also known as dicer1 syndrome, is related to dicer1-related disorders. An important gene associated with Dicer1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome is DICER1 (Dicer 1, Ribonuclease III). Affiliated tissues include ovary, thyroid 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:

id Related Disease Score Top Affiliating Genes
1 dicer1-related disorders 11.4

Symptoms & Phenotypes for Dicer1-Related Pleuropulmonary Blastoma Cancer Predisposition...

Drugs & Therapeutics for Dicer1-Related Pleuropulmonary Blastoma Cancer Predisposition...

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 DICER1-related Pleuropulmonary Blastoma Cancer Predisposition Syndrome: A Natural History Study Recruiting NCT01247597
2 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268

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:

id Genetic test Affiliating Genes
1 Dicer1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome 29

Anatomical Context for Dicer1-Related Pleuropulmonary Blastoma Cancer Predisposition...

MalaCards organs/tissues related to Dicer1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome:

39
Ovary, Thyroid, Lung, Kidney

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

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 94)
id Gene Variation Type Significance SNP ID Assembly Location
1 DICER1 NM_177438.2(DICER1): c.4748T> G (p.Leu1583Arg) single nucleotide variant Pathogenic rs137852976 GRCh37 Chromosome 14, 95562509: 95562509
2 DICER1 NM_177438.2(DICER1): c.1507G> T (p.Glu503Ter) single nucleotide variant Pathogenic rs137852977 GRCh37 Chromosome 14, 95583961: 95583961
3 DICER1 NM_177438.2(DICER1): c.2830C> T (p.Arg944Ter) single nucleotide variant Pathogenic rs137852978 GRCh37 Chromosome 14, 95572535: 95572535
4 DICER1 NM_177438.2(DICER1): c.1630C> T (p.Arg544Ter) single nucleotide variant Pathogenic rs137852979 GRCh37 Chromosome 14, 95582912: 95582912
5 DICER1 NM_177438.2(DICER1): c.559C> T (p.Arg187Ter) single nucleotide variant Pathogenic rs763801533 GRCh38 Chromosome 14, 95130072: 95130072
6 DICER1 NM_177438.2(DICER1): c.489C> G (p.Tyr163Ter) single nucleotide variant Pathogenic rs864622626 GRCh37 Chromosome 14, 95596479: 95596479
7 DICER1 NM_177438.2(DICER1): c.4754C> G (p.Ser1585Ter) single nucleotide variant Pathogenic rs875989779 GRCh37 Chromosome 14, 95562503: 95562503
8 DICER1 NM_177438.2(DICER1): c.4407_4410delTTCT (p.Ser1470Leufs) deletion Pathogenic rs875989784 GRCh37 Chromosome 14, 95562847: 95562850
9 DICER1 NM_177438.2(DICER1): c.5315_5316delTT (p.Phe1772Cysfs) deletion Pathogenic rs878855274 GRCh38 Chromosome 14, 95093936: 95093937
10 DICER1 NM_177438.2(DICER1): c.4004dupA (p.Tyr1335Terfs) duplication Pathogenic rs878855262 GRCh37 Chromosome 14, 95569729: 95569729
11 DICER1 NM_177438.2(DICER1): c.2026C> T (p.Arg676Ter) single nucleotide variant Pathogenic rs878855246 GRCh37 Chromosome 14, 95579443: 95579443
12 DICER1 NM_177438.2(DICER1): c.5465A> T (p.D1822V) single nucleotide variant Pathogenic rs886037729 GRCh37 Chromosome 14, 95557602: 95557602
13 DICER1 NM_177438.2(DICER1): c.5394delA (p.E1799Kfs*39) deletion Pathogenic rs886037728 GRCh38 Chromosome 14, 95091336: 95091336
14 DICER1 NM_177438.2(DICER1): c.5096-498_5364+356del deletion Pathogenic GRCh38 Chromosome 14, 95093532: 95094654
15 DICER1 NM_177438.2(DICER1): c.5299delC (p.H1767Mfs*71) deletion Pathogenic rs886037727 GRCh38 Chromosome 14, 95093953: 95093953
16 DICER1 NM_177438.2(DICER1): c.5251_5255delAAGTA (p.K1751Rfs*12) deletion Pathogenic rs886037726 GRCh37 Chromosome 14, 95560334: 95560338
17 DICER1 NM_177438.2(DICER1): c.5194dupC (p.L1732Pfs*33) duplication Pathogenic rs886037725 GRCh38 Chromosome 14, 95094058: 95094058
18 DICER1 NM_177438.2(DICER1): c.5123G> A (p.G1708E) single nucleotide variant Pathogenic rs886037724 GRCh38 Chromosome 14, 95094129: 95094129
19 DICER1 NM_177438.2(DICER1): c.5104C> T (p.Q1702*) single nucleotide variant Pathogenic rs886037723 GRCh38 Chromosome 14, 95094148: 95094148
20 DICER1 NM_177438.2(DICER1): c.5095+1G> C single nucleotide variant Pathogenic rs886037722 GRCh37 Chromosome 14, 95562161: 95562161
21 DICER1 NM_177438.2(DICER1): c.5053C> T (p.Q1685*) single nucleotide variant Pathogenic rs886037721 GRCh38 Chromosome 14, 95095867: 95095867
22 DICER1 NM_177438.2(DICER1): c.4960_4961dupGA (p.D1654Efs*7) duplication Pathogenic rs886037720 GRCh38 Chromosome 14, 95095959: 95095960
23 DICER1 NM_177438.2(DICER1): c.4626delG (p.Q1542Hfs*18) deletion Pathogenic rs886037719 GRCh38 Chromosome 14, 95096294: 95096294
24 DICER1 NM_177438.2(DICER1): c.4621A> T (p.K1541*) single nucleotide variant Pathogenic rs886037718 GRCh37 Chromosome 14, 95562636: 95562636
25 DICER1 NM_177438.2(DICER1): c.4605_4606delTG (p.C1535Wfs*3) deletion Pathogenic rs886037717 GRCh38 Chromosome 14, 95096314: 95096315
26 DICER1 NM_177438.2(DICER1): c.4517G> A (p.W1506*) single nucleotide variant Pathogenic rs886037716 GRCh38 Chromosome 14, 95096403: 95096403
27 DICER1 NM_177438.2(DICER1): c.4511delG (p.S1504Tfs*56) deletion Pathogenic rs886037715 GRCh38 Chromosome 14, 95096409: 95096409
28 DICER1 NM_177438.2(DICER1): c.4426_4427insT (p.D1476Vfs5*) insertion Pathogenic rs886037714 GRCh38 Chromosome 14, 95096493: 95096494
29 DICER1 NM_177438.2(DICER1): c.4407_4408delTT (p.P1471Ffs*5) deletion Pathogenic rs886037713 GRCh38 Chromosome 14, 95096512: 95096513
30 DICER1 NM_177438.2(DICER1): c.4309_4312delGACT (p.D1437Mfs*16) deletion Pathogenic rs886037712 GRCh38 Chromosome 14, 95096608: 95096611
31 DICER1 NM_177438.2(DICER1): c.4190G> A (p.W1397*) single nucleotide variant Pathogenic rs886037711 GRCh38 Chromosome 14, 95099796: 95099796
32 DICER1 NM_177438.2(DICER1): c.3875_3878delCCAA (p.P1292Lfs*9) deletion Pathogenic rs886037710 GRCh38 Chromosome 14, 95103518: 95103521
33 DICER1 NM_177438.2(DICER1): c.3777dupC (p.V1260Rfs*19) duplication Pathogenic rs886037709 GRCh38 Chromosome 14, 95103619: 95103619
34 DICER1 NM_177438.2(DICER1): c.3726C> A (p.Y1242*) single nucleotide variant Pathogenic rs886037708 GRCh38 Chromosome 14, 95103670: 95103670
35 DICER1 NM_177438.2(DICER1): c.3676G> T (p.E1226*) single nucleotide variant Pathogenic rs748087536 GRCh38 Chromosome 14, 95103720: 95103720
36 DICER1 NM_177438.2(DICER1): c.3658C> T (p.Q1220*) single nucleotide variant Pathogenic rs886037707 GRCh38 Chromosome 14, 95103738: 95103738
37 DICER1 NM_177438.2(DICER1): c.3589delT (p.C1197Afs*6) deletion Pathogenic rs886037706 GRCh38 Chromosome 14, 95103807: 95103807
38 DICER1 NM_177438.2(DICER1): c.3579_3580delCA (p.N1193Kfs*41) deletion Pathogenic rs886037705 GRCh37 Chromosome 14, 95570153: 95570154
39 DICER1 NM_177438.2(DICER1): c.3540C> A (p.Y1180*) single nucleotide variant Pathogenic rs886037704 GRCh37 Chromosome 14, 95570193: 95570193
40 DICER1 NM_177438.2(DICER1): c.3538_3539delTA (p.Y1180Qfs*10) deletion Pathogenic rs886037703 GRCh37 Chromosome 14, 95570194: 95570195
41 DICER1 NM_177438.2(DICER1): c.3534_3535insAA (p.S1179Nfs*14) insertion Pathogenic rs886037702 GRCh37 Chromosome 14, 95570198: 95570199
42 DICER1 NM_177438.2(DICER1): c.3515_3525delTTACAGCAATTinsA (p.L1172Qfs*17) indel Pathogenic rs886037701 GRCh38 Chromosome 14, 95103871: 95103881
43 DICER1 NM_177438.2(DICER1): c.3300delA (p.K1100Nfs*44) deletion Pathogenic rs886037700 GRCh38 Chromosome 14, 95104096: 95104096
44 DICER1 NM_177438.2(DICER1): c.3277_3280delAACT (p.N1093*) deletion Pathogenic rs886037699 GRCh38 Chromosome 14, 95104116: 95104119
45 DICER1 NM_177438.2(DICER1): c.3273C> G (p.Y1091*) single nucleotide variant Pathogenic rs886037698 GRCh38 Chromosome 14, 95104123: 95104123
46 DICER1 NM_177438.2(DICER1): c.3175dupT (p.Y1059Lfs*32) duplication Pathogenic rs886037697 GRCh37 Chromosome 14, 95571502: 95571502
47 DICER1 NM_177438.2(DICER1): c.3135_3137delATCinsTGAACTCATG (p.S1046Efs*47) indel Pathogenic rs886037696 GRCh37 Chromosome 14, 95571540: 95571542
48 DICER1 NM_177438.2(DICER1): c.2888_2889delCT (p.P963Rfs*3) deletion Pathogenic rs886037695 GRCh38 Chromosome 14, 95106139: 95106140
49 DICER1 NM_177438.2(DICER1): c.2867_2869delCACinsAA (p.P956Qfs*25) indel Pathogenic rs886037694 GRCh38 Chromosome 14, 95106159: 95106161
50 DICER1 NM_177438.2(DICER1): c.2863delA (p.T955Pfs*26) deletion Pathogenic rs886037693 GRCh38 Chromosome 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...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....