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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 pathogenicity554351451RCV000764556|RCV002526235; NMONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100; Human Phenotype Ontology:HP:0006753,MONDO:MONDO:0021085,MedGen:C0038356; MedGen:C1851124,OMIM:135290, Orphanet:873; Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Onto5112043211112043211NC_000005.9:g.112043211A>GClinGen:CA124924789C2713442 175100 Familial adenomatous polyposis 1;
NM_001127511.3(APC):c.-128G>C324APCConflicting interpretations of pathogenicity543098847RCV000764557|RCV002526226; NMONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100; Human Phenotype Ontology:HP:0006753,MONDO:MONDO:0021085,MedGen:C0038356; MedGen:C1851124,OMIM:135290, Orphanet:873; Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Onto51120432871120432875:g.112043287G>CClinGen:CA124924970C2713442 175100 Familial adenomatous polyposis 1;
NM_001127511.3(APC):c.1A>G (p.Met1Val)324APCUncertain significance189807660RCV000764558|RCV002231884; NMONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100; Human Phenotype Ontology:HP:0006753,MONDO:MONDO:0021085,MedGen:C0038356; MedGen:C1851124,OMIM:135290, Orphanet:873; Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Onto51120434151120434155:g.112043415A>GClinGen:CA124925094C2713442 175100 Familial adenomatous polyposis 1;
NM_000038.6(APC):c.70C>T (p.Arg24Ter)324APCPathogenic/Likely pathogenic145945630RCV000164002|RCV000227124|RCV000482864|RCV000508297|RCV000844605|RCV000763534|RCV001353710|RCV003162685; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0021055,MedGen:C0032580,OMIM:PS175100, Orphanet:733|MedGen:C1851124,OMIM:135290, Orphanet:873; MOND5112090657112090657NC_000005.9:g.112090657C>TClinGen:CA012843CN240755 Familial adenomatous polyposis;
NM_000038.6(APC):c.245T>C (p.Phe82Ser)324APCUncertain significance1179254201RCV000569708|RCV001293968|RCV002530355; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C1851124,OMIM:135290, Orphanet:873|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:17510051121029101121029105:g.112102910T>CClinGen:CA16021881C2713442 175100 Familial adenomatous polyposis 1;
NM_000038.6(APC):c.607C>G (p.Gln203Glu)324APCConflicting interpretations of pathogenicity141576417RCV000034394|RCV000115109|RCV000120051|RCV000709878|RCV000757929|RCV000987552|RCV001156934; NMedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100; MedGen:C1851124,OMIM:135290, Orphanet:873|MONDO:MONDO:0021055,MedGen:C0032580,OMIM:PS175100, Orphanet:733|MOND51121165621121165625:g.112116562C>GClinGen:CA010884C2713442 175100 Familial adenomatous polyposis 1;
NM_000038.6(APC):c.646C>T (p.Arg216Ter)324APCPathogenic62619935RCV000115111|RCV000223521|RCV000763536|RCV002228241|RCV002281931|RCV003460798; NMedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C1851124,OMIM:135290, Orphanet:873; MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100; Human Phenotype Ontology:HP:0006753,MONDO:MONDO:0021085,MedGen:C0038356; Human Pheno5112128143112128143NC_000005.9:g.112128143C>TClinGen:CA012198CN240755 Familial adenomatous polyposis;
NM_000038.6(APC):c.847C>T (p.Arg283Ter)324APCPathogenic786201856RCV000164351|RCV000202113|RCV000501350|RCV000763538|RCV001353622|RCV001789763|RCV002517615|RCV003337238; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0021055,MedGen:C0032580,OMIM:PS175100, Orphanet:733|MedGen:C1851124,OMIM:135290, Orphanet:873; MONDO:MONDO:0002032,MedGen:C0699790; Human Phenotype Ontology:HP:000651121512041121512045:g.112151204C>TClinGen:CA015543CN240755 Familial adenomatous polyposis;
NM_000038.6(APC):c.933+1G>A324APCPathogenic/Likely pathogenic876660765RCV000217532|RCV000763539|RCV002516170|RCV003337260; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C1851124,OMIM:135290, Orphanet:873; MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100; Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP51121512911121512915:g.112151291G>AClinGen:CA10578303C2713442 175100 Familial adenomatous polyposis 1;
NM_000038.6(APC):c.1553C>T (p.Thr518Met)324APCUncertain significance371453363RCV000221284|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:HP51121636301121636305:g.112163630C>TClinGen:CA028394C2713442 175100 Familial adenomatous polyposis 1;
NM_000038.6(APC):c.1606G>A (p.Glu536Lys)324APCConflicting interpretations of pathogenicity138098808RCV000199835|RCV000235744|RCV000217491|RCV000656746|RCV000764561; NMONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MedGen:C1851124,OMIM:135290, Orphanet:873; Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0005112163683112163683NC_000005.9:g.112163683G>AClinGen:CA028603C2713442 175100 Familial adenomatous polyposis 1;
NM_000038.6(APC):c.1660C>T (p.Arg554Ter)324APCPathogenic137854573RCV000000845|RCV000129303|RCV000210172|RCV000482405|RCV000763541|RCV000844608|RCV002227969|RCV003162203; NMONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C1858438|MedGen:C3661900|MONDO:MONDO:0002032,MedGen:C0699790; MedGen:C1851124,OMIM:135290, Orphanet:873; Human Phenotype Ontology:HP:0005112164586112164586NC_000005.9:g.112164586C>TClinGen:CA005424,OMIM:611731.0015C1858438 Colorectal cancer, susceptibility to;
NM_000038.6(APC):c.1762G>A (p.Val588Ile)324APCConflicting interpretations of pathogenicity372416031RCV000554226|RCV000561260|RCV000764562|RCV001356454|RCV002231842|RCV003403312|RCV003153714; 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; MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100; Human Phenotype51121706661121706665:g.112170666G>AClinGen:CA029508C2713442 175100 Familial adenomatous polyposis 1;
NM_000038.6(APC):c.1820G>C (p.Cys607Ser)324APCUncertain significance1554083153RCV000573972|RCV001853812|RCV002463453; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:C1851124,OMIM:135290, Orphanet:87351121707241121707245:g.112170724G>CClinGen:CA16025305C0027672 Hereditary cancer-predisposing syndrome;
NM_000038.6(APC):c.2413C>T (p.Arg805Ter)324APCPathogenic587779783RCV000115073|RCV000501097|RCV001270020|RCV001292808|RCV001824606|RCV002513947|RCV003337232; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021055,MedGen:C0032580,OMIM:PS175100, Orphanet:733|MedGen:C3661900|MedGen:C1851124,OMIM:135290, Orphanet:873|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100; MONDO:MONDO:0016613,5112173704112173704NC_000005.9:g.112173704C>TClinGen:CA007452CN240755 Familial adenomatous polyposis;
NM_000038.6(APC):c.2474A>G (p.Tyr825Cys)324APCConflicting interpretations of pathogenicity186641437RCV000220641|RCV000485918|RCV000764563|RCV001174911|RCV002515684; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MedGen:C1851124,OMIM:135290, Orphanet:873; Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontolog51121737651121737655:g.112173765A>GClinGen:CA032224C2713442 175100 Familial adenomatous polyposis 1;
NM_000038.6(APC):c.2719G>C (p.Gly907Arg)324APCConflicting interpretations of pathogenicity771458366RCV001016394|RCV002537517|RCV003141857; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:C1851124,OMIM:135290, Orphanet:87351121740101121740105:g.112174010G>C-
NM_000038.6(APC):c.2805C>A (p.Tyr935Ter)324APCPathogenic137854575RCV000000848|RCV000129305|RCV000202012|RCV000210151|RCV000763542|RCV000844610|RCV003337227; NMONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MedGen:C1858438|MedGen:C1851124,OMIM:135290, Orphanet:873; Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0005112174096112174096NC_000005.9:g.112174096C>AClinGen:CA007805,OMIM:611731.0018C1858438 Colorectal cancer, susceptibility to;
NM_000038.6(APC):c.3689A>G (p.Gln1230Arg)324APCUncertain significance764706774RCV000775140|RCV001332124|RCV001821561|RCV002289766|RCV002528506; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C1851124,OMIM:135290, Orphanet:873|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:17510051121749801121749805:g.112174980A>GClinGen:CA036253C2713442 175100 Familial adenomatous polyposis 1;
NM_000038.6(APC):c.3692_3693insA (p.His1232fs)324APCPathogenic1765495276RCV001292791; NMedGen:C1851124,OMIM:135290, Orphanet:8735112174983112174984112174983-
NM_000038.5(APC):c.4575_4576insAlu1324APCPathogenic-1RCV000000876; NMedGen:C1851124,OMIM:135290, Orphanet:8735112175866112175867OMIM:611731.0040C1851124 135290 Desmoid disease, hereditary;
NM_000038.6(APC):c.4847A>T (p.Lys1616Ile)324APCUncertain significance1554086241RCV000564351|RCV000764564|RCV002526280; NMONDO: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, Orphanet:873; Human Phenotype Ontology:HP5112176138112176138NC_000005.9:g.112176138A>TClinGen:CA16031952C2713442 175100 Familial adenomatous polyposis 1;
NM_000038.6(APC):c.5105G>A (p.Gly1702Glu)324APCConflicting interpretations of pathogenicity769273526RCV000163348|RCV000231340|RCV000758732|RCV000764565|RCV002267901|RCV003153439; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:C3661900|MedGen:C1851124,OMIM:135290, Orphanet:873; MONDO:MONDO:0002032,MedGen:C0699790; Human Phenotype Ontology:HP:0006753,MONDO:MONDO51121763961121763965:g.112176396G>AClinGen:CA009865C2713442 175100 Familial adenomatous polyposis 1;
NM_000038.6(APC):c.5363G>A (p.Arg1788His)324APCConflicting interpretations of pathogenicity201472075RCV000159559|RCV000211922|RCV000232274|RCV000393057|RCV000590729|RCV000764566; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:CN239210|MedGen:C3661900|MONDO:MONDO:0002032,MedGen:C0699790; MedGen:C1851124,OMIM:135290, Orphanet:873; MONDO:MONDO:00251121766541121766545:g.112176654G>AClinGen:CA010335CN239210 APC-Associated Polyposis Disorders;
NM_000038.6(APC):c.5801C>T (p.Pro1934Leu)324APCConflicting interpretations of pathogenicity587780600RCV000122787|RCV000159562|RCV000211923|RCV000210078|RCV000210900|RCV000656747|RCV000764567|RCV001155575|RCV003398739; 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:C3661900|MedGen:C1851124,OMIM:135290,O5112177092112177092NC_000005.9:g.112177092C>TClinGen:CA010706C1858438 Colorectal cancer, susceptibility to;
NM_000038.6(APC):c.5826_5829del (p.Asp1942fs)324APCPathogenic864622228RCV000000861|RCV000323095|RCV000491422|RCV002229158; NMedGen:C1851124,OMIM:135290, Orphanet:873|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:1751005112177113112177116NC_000005.9:g.112177113CAGA[1]ClinGen:CA350460,OMIM:611731.0026C1851124 135290 Desmoid disease, hereditary;
NM_000038.6(APC):c.7166G>A (p.Ser2389Asn)324APCUncertain significance779287035RCV000564175|RCV000586700|RCV000765790|RCV002527861; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100; Human Phenotype Ontology:HP:0006753,MONDO:MONDO:0021085,MedGen:C0038356; MedGen:C1851124,OMIM:135290, Orphanet:873; Human Pheno51121784571121784575:g.112178457G>AClinGen:CA16036937C2713442 175100 Familial adenomatous polyposis 1;
NM_000038.6(APC):c.7403C>T (p.Ser2468Leu)324APCUncertain significance-1RCV003142448; NMedGen:C1851124,OMIM:135290, Orphanet:8735112178694112178694NC_000005.9:g.112178694C>T-
NM_000038.6(APC):c.8276G>A (p.Arg2759His)324APCConflicting interpretations of pathogenicity538289470RCV000130304|RCV000765791|RCV001549810|RCV002228491|RCV002469020|RCV003430706; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0002032,MedGen:C0699790; MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100; Human Phenotype Ontology:HP:0006753,MONDO:MONDO:0021085,MedGen:C0038356; MedGen:C1851124,OMIM:135290,Orph51121795671121795675:g.112179567G>AClinGen:CA014525C2713442 175100 Familial adenomatous polyposis 1;
NM_000038.6(APC):c.8462A>G (p.Asp2821Gly)324APCConflicting interpretations of pathogenicity780049836RCV000196318|RCV000478701|RCV000567493|RCV000765792|RCV000779724|RCV002228917; NMONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C1851124,OMIM:135290, Orphanet:873; Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Pheno5112179753112179753NC_000005.9:g.112179753A>GClinGen:CA050869C2713442 175100 Familial adenomatous polyposis 1;
MSeqDR Portal