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Adenomatous Polyposis Coli (D011125)
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Desmoid disease, hereditary (C535944)

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..expandDesmoid disease, hereditary (C535944)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:3596
Name:Desmoid disease, hereditary
Definition:
Alternative IDs:OMIM:135290
ParentIDs:MESH:D000008|MESH:D011125|MESH:D018222
TreeNumbers:C04.557.450.565.590.340.410/C535944 |C04.557.470.035.215.100/C535944 |C04.588.033/C535944 |C04.588.274.476.411.307.089/C535944 |C04.700.100/C535944 |C06.301.371.411.307.090/C535944 |C06.405.249.411.307.090/C535944 |C06.405.469.158.356.090/C535944 |C06.405.469.49
Synonyms:Desmoid Tumor Caused By Somatic Mutation |Familial infiltrative fibromatosis |Fibromatosis, familial infiltrative |FIBROMATOSIS, FAMILIAL INFILTRATIVE;FIF DESMOID TUMOR CAUSED BY SOMATIC MUTATION, INCLUDED
Slim Mappings:Cancer|Digestive system disease|Genetic disease (inborn)
Reference: MedGen: C535944
MeSH: C535944
OMIM: 135290;
MSeqDR LSDB:  
Genes: APC;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0003003Colon cancerHP:0040283
3 HP:0100245Desmoid tumorsHP:0040281 Infantile onset
4 HP:0200040Epidermoid cystHP:0040282
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_001127511.3(APC):c.-204A>G324APCConflicting interpretations of pathogenicityrs554351451RCV000535658|RCV000764556; NMONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:C1851124,OMIM:135290, Orphanet:873; MONDO:MONDO:0002032,MedGen:C0699790; Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Onto5112043211112043211AGNC_000005.9:g.112043211A>GClinGen:CA124924789C2713442 175100 Familial adenomatous polyposis 1;
NM_001127511.3(APC):c.-128G>C324APCConflicting interpretations of pathogenicityrs543098847RCV000528919|RCV000764557; NMONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:C1851124,OMIM:135290, Orphanet:873; MONDO:MONDO:0002032,MedGen:C0699790; Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Onto5112043287112043287GC5:g.112043287G>CClinGen:CA124924970C2713442 175100 Familial adenomatous polyposis 1;
NM_001127511.3(APC):c.1A>G (p.Met1Val)324APCUncertain significancers189807660RCV000551159|RCV000764558|RCV001092762; NMONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:C1851124,OMIM:135290, Orphanet:873; MONDO:MONDO:0002032,MedGen:C0699790; Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Onto5112043415112043415AG5:g.112043415A>GClinGen:CA124925094C2713442 175100 Familial adenomatous polyposis 1;
NM_000038.6(APC):c.70C>T (p.Arg24Ter)324APCPathogenic/Likely pathogenicrs145945630RCV000164002|RCV000227124|RCV000482864|RCV000508297|RCV000763534|RCV000844605|RCV001353710; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:CN517202|MedGen:CN169374|Human Phenotype Ontology:HP:0006753,MONDO:MONDO:0021085,MedGen:C0038356; MedGen:C1851124,OMIM:135290, Orphanet5112090657112090657CTNC_000005.9:g.112090657C>TClinGen:CA012843CN240755 Familial adenomatous polyposis;
NM_000038.6(APC):c.245T>C (p.Phe82Ser)324APCUncertain significancers1179254201RCV000569708|RCV000700319|RCV001293968; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:C1851124,OMIM:135290, Orphanet:8735112102910112102910TC5:g.112102910T>CClinGen:CA16021881C2713442 175100 Familial adenomatous polyposis 1;
NM_000038.6(APC):c.607C>G (p.Gln203Glu)324APCConflicting interpretations of pathogenicityrs141576417RCV000034394|RCV000115109|RCV000120051|RCV000709878|RCV000757929|RCV000987552|RCV001156934; NMedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MedGen:C1851124,OMIM:135290, Orphanet:873; MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0021055,MedGen:C0032580,OMIM:PS175100, Orphanet:733|MOND5112116562112116562CG5:g.112116562C>GClinGen:CA010884C2713442 175100 Familial adenomatous polyposis 1;
NM_000038.6(APC):c.637C>T (p.Arg213Ter)324APCPathogenicrs587781392RCV000129233|RCV000202175|RCV000227200|RCV000763535|RCV000825611|RCV001353439; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN517202|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:C1851124,OMIM:135290, Orphanet:873; MONDO:MONDO:0002032,MedGen:C0699790; MONDO:MONDO:0021056,MedGen:C2713442,OMIM:1751005112116592112116592CTNC_000005.9:g.112116592C>TClinGen:CA011131CN240755 Familial adenomatous polyposis;
NM_000038.6(APC):c.646C>T (p.Arg216Ter)324APCPathogenicrs62619935RCV000115111|RCV000223521|RCV000470336|RCV000763536; NMedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:C1851124,OMIM:135290, Orphanet:873; MONDO:MONDO:0002032,MedGen:C0699790; MONDO:MONDO:0021056,MedGen:C2713442,OMIM:1751005112128143112128143CTNC_000005.9:g.112128143C>TClinGen:CA012198CN240755 Familial adenomatous polyposis;
NM_000038.6(APC):c.694C>T (p.Arg232Ter)324APCPathogenicrs397515734RCV000035081|RCV000491782|RCV000486263|RCV000763537|RCV000844606; NMONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN517202|MedGen:C1851124,OMIM:135290, Orphanet:873; MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100; Human Phenotype Ontology:HP:00067535112128191112128191CTNC_000005.9:g.112128191C>TClinGen:CA012693CN240755 Familial adenomatous polyposis;
NM_000038.6(APC):c.933+1G>A324APCPathogenic/Likely pathogenicrs876660765RCV000217532|RCV000646258|RCV000763539; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100; MedGen:C1851124,OMIM:135290, Orphanet:873; Human Phenotype Ontology:HP:0006753,MONDO:MONDO:0025112151291112151291GA5:g.112151291G>AClinGen:CA10578303C2713442 175100 Familial adenomatous polyposis 1;
NM_000038.6(APC):c.1458T>C (p.Tyr486=)324APCBenignrs2229992RCV000035064|RCV000074147|RCV000131423|RCV000275522|RCV000755209|RCV000755636|RCV001353619|RCV001675589; NMedGen:CN169374|MONDO:MONDO:0023113,MedGen:CN280943|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN239210|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:C1851124,OMIM:135290, Orphanet:873; Human Phenotype Ontology:HP:0005112162854112162854TC5:g.112162854T>CClinGen:CA005169CN239210 APC-Associated Polyposis Disorders;
NM_000038.6(APC):c.1553C>T (p.Thr518Met)324APCUncertain significancers371453363RCV000221284|RCV000461223|RCV000764560|RCV001284232; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:C1851124,OMIM:135290, Orphanet:873; Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP5112163630112163630CT5:g.112163630C>TClinGen:CA028394C2713442 175100 Familial adenomatous polyposis 1;
NM_000038.6(APC):c.1660C>T (p.Arg554Ter)324APCPathogenicrs137854573RCV000000845|RCV000129303|RCV000210172|RCV000482405|RCV000763541|RCV000844608; NMONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C1858438|MedGen:CN517202|MedGen:C1851124,OMIM:135290, Orphanet:873; MONDO:MONDO:0002032,MedGen:C0699790; Human Phenotype Ontology:HP:0005112164586112164586CTNC_000005.9:g.112164586C>TClinGen:CA005424,OMIM:611731.0015C1858438 Colorectal cancer, susceptibility to;
NM_000038.6(APC):c.1762G>A (p.Val588Ile)324APCUncertain significancers372416031RCV000554226|RCV000561260|RCV000764562|RCV001356454; NMONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C1851124,OMIM:135290, Orphanet:873; MONDO:MONDO:0002032,MedGen:C0699790; Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP5112170666112170666GA5:g.112170666G>AClinGen:CA029508C2713442 175100 Familial adenomatous polyposis 1;
NM_000038.6(APC):c.2413C>T (p.Arg805Ter)324APCPathogenicrs587779783RCV000115073|RCV000168336|RCV000501097|RCV001270020|RCV001292808|RCV001824606; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0021055,MedGen:C0032580,OMIM:PS175100, Orphanet:733|MedGen:CN517202|MedGen:C1851124,OMIM:135290, Orphanet:873|MONDO:MONDO:0021056,5112173704112173704CTNC_000005.9:g.112173704C>TClinGen:CA007452CN240755 Familial adenomatous polyposis;
NM_000038.6(APC):c.2474A>G (p.Tyr825Cys)324APCUncertain significancers186641437RCV000220641|RCV000485918|RCV000646251|RCV000764563|RCV001174911; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN517202|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100; MedGen:C1851124,OMIM:135290, Orphanet:873; Human Phenotype Ontology:HP:00067535112173765112173765AG5:g.112173765A>GClinGen:CA032224C2713442 175100 Familial adenomatous polyposis 1;
NM_000038.6(APC):c.2805C>A (p.Tyr935Ter)324APCPathogenicrs137854575RCV000000848|RCV000129305|RCV000202012|RCV000210151|RCV000763542|RCV000844610; NMONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN517202|MedGen:C1858438|MedGen:C1851124,OMIM:135290, Orphanet:873; MONDO:MONDO:0002032,MedGen:C0699790; Human Phenotype Ontology:HP:0005112174096112174096CANC_000005.9:g.112174096C>AClinGen:CA007805,OMIM:611731.0018C1858438 Colorectal cancer, susceptibility to;
NM_000038.6(APC):c.3689A>G (p.Gln1230Arg)324APCUncertain significancers764706774RCV000550566|RCV000775140|RCV001332124|RCV001821561; NMONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C1851124,OMIM:135290, Orphanet:873|MedGen:CN1693745112174980112174980AG5:g.112174980A>GClinGen:CA036253C2713442 175100 Familial adenomatous polyposis 1;
NM_000038.6(APC):c.3692_3693insA (p.His1232fs)324APCPathogenicrs1765495276RCV001292791; NMedGen:C1851124,OMIM:135290, Orphanet:8735112174983112174984TTA112174983-
NM_000038.6(APC):c.3867T>A (p.Cys1289Ter)324APCPathogenicrs1554085355RCV000657604|RCV000763543|RCV001861683; NMedGen:CN517202|MedGen:C1851124,OMIM:135290, Orphanet:873; MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100; Human Phenotype Ontology:HP:0006753,MONDO:MONDO:0021085,MedGen:C0038356; Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Huma5112175158112175158TA5:g.112175158T>A-CN517202 not provided;
NM_000038.5(APC):c.4575_4576insAlu1324APCPathogenic-1RCV000000876; NMedGen:C1851124,OMIM:135290, Orphanet:8735112175866112175867nanaOMIM:611731.0040C1851124 135290 Desmoid disease, hereditary;
NM_000038.6(APC):c.4847A>T (p.Lys1616Ile)324APCUncertain significancers1554086241RCV000542952|RCV000564351|RCV000764564; NMONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C1851124,OMIM:135290, Orphanet:873; MONDO:MONDO:0002032,MedGen:C0699790; Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP5112176138112176138ATNC_000005.9:g.112176138A>TClinGen:CA16031952C2713442 175100 Familial adenomatous polyposis 1;
NM_000038.6(APC):c.5801C>T (p.Pro1934Leu)324APCConflicting interpretations of pathogenicityrs587780600RCV000122787|RCV000159562|RCV000211923|RCV000210078|RCV000210900|RCV000656747|RCV000764567|RCV001155575; NMONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MedGen:C1858438|MONDO:MONDO:0021055,MedGen:C0032580,OMIM:PS175100, Orphanet:733|MedGen:CN517202|MedGen:C1851124,OMIM:135290,O5112177092112177092CTNC_000005.9:g.112177092C>TClinGen:CA010706C1858438 Colorectal cancer, susceptibility to;
NM_000038.6(APC):c.5826_5829del (p.Asp1942fs)324APCPathogenicrs864622228RCV000000861|RCV000206426|RCV000323095|RCV000491422; NMedGen:C1851124,OMIM:135290, Orphanet:873|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401625112177113112177116CCAGACNC_000005.9:g.112177113CAGA[1]ClinGen:CA350460,OMIM:611731.0026C1851124 135290 Desmoid disease, hereditary;
NM_000038.6(APC):c.6257C>G (p.Pro2086Arg)324APCUncertain significancers786202975RCV000166066|RCV000205730|RCV000515279|RCV001850334; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0002032,MedGen:C0699790; MedGen:C1851124,OMIM:135290, Orphanet:873; Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP5112177548112177548CG5:g.112177548C>GClinGen:CA011055C0699790 114500 Carcinoma of colon;
NM_000038.6(APC):c.6639G>A (p.Met2213Ile)324APCConflicting interpretations of pathogenicityrs35540155RCV000130211|RCV000409211|RCV000484737|RCV000765788|RCV001157265; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:CN517202|MedGen:C1851124,OMIM:135290, Orphanet:873; MONDO:MONDO:0002032,MedGen:C0699790; MONDO:MONDO:0021056,MedGen:C2713442,OMIM:1751005112177930112177930GA5:g.112177930G>AClinGen:CA012330C2713442 175100 Familial adenomatous polyposis 1;
NM_000038.6(APC):c.6724A>G (p.Ser2242Gly)324APCConflicting interpretations of pathogenicityrs201375478RCV000034395|RCV000115114|RCV000211930|RCV000515374|RCV000664301|RCV000987580|RCV001151801|RCV001353961; NMedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MedGen:C1851124,OMIM:135290, Orphanet:873; MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100; Human Phenotype Ontology:HP:0006753,MONDO:MONDO:0021085,MedGen:C0035112178015112178015AG5:g.112178015A>GClinGen:CA012449C0699790 114500 Carcinoma of colon;
NM_000038.6(APC):c.7036C>T (p.Pro2346Ser)324APCConflicting interpretations of pathogenicityrs200756935RCV000034397|RCV000120030|RCV000115118|RCV000515182|RCV001083312|RCV001153053|RCV001762083; NMedGen:CN517202|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100; Human Phenotype Ontology:HP:0006753,MONDO:MONDO:0021085,MedGen:C0038356; MedGen:C1851124,OMIM:135290, Orphanet5112178327112178327CT5:g.112178327C>TClinGen:CA012759C0699790 114500 Carcinoma of colon;
NM_000038.6(APC):c.7166G>A (p.Ser2389Asn)324APCUncertain significancers779287035RCV000526527|RCV000564175|RCV000586700|RCV000765790; NMONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN517202|MedGen:C1851124,OMIM:135290, Orphanet:873; MONDO:MONDO:0002032,MedGen:C0699790; Human Phenotype Ontology:HP:0001402,Human Pheno5112178457112178457GA5:g.112178457G>AClinGen:CA16036937C2713442 175100 Familial adenomatous polyposis 1;
NM_000038.6(APC):c.8276G>A (p.Arg2759His)324APCUncertain significancers538289470RCV000130304|RCV000458007|RCV000765791|RCV001549810; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:C1851124,OMIM:135290, Orphanet:873; MONDO:MONDO:0002032,MedGen:C0699790; MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100; Human Phenotype5112179567112179567GA5:g.112179567G>AClinGen:CA014525C2713442 175100 Familial adenomatous polyposis 1;
NM_000038.6(APC):c.8389A>G (p.Ser2797Gly)324APCConflicting interpretations of pathogenicityrs147287751RCV000129949|RCV000198030|RCV000283075|RCV000515282|RCV000656753; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:CN239210|MedGen:C1851124,OMIM:135290, Orphanet:873; MONDO:MONDO:0002032,MedGen:C0699790; MONDO:MONDO:0021056,MedGen:C2713442,OMIM:1751005112179680112179680AG5:g.112179680A>GClinGen:CA015444CN239210 APC-Associated Polyposis Disorders;
MSeqDR Portal