MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Disease Browser
Parent Node:
expand
Ectodermal Dysplasia (D004476)
Parent Node:
expand
Nail Diseases (D009260)
..Starting node
..expand
Pachyonychia Congenita (D053549)

       Child Nodes:
........expandGorlin Bushkell Jensen syndrome (C537289)
........expandPachyonychia congenita recessive (C538094)
........expandSteatocystoma Multiplex (D062685) Child2



 Sister Nodes: 
..expandAl Gazali Hirschsprung syndrome (C535615)
..expandBasaran Yilmaz syndrome (C537660)
..expandBrachydactyly type A5 nail dysplasia (C537091)
..expandCandidiasis, Familial, 3 (C564361)
..expandDermatopathia pigmentosa reticularis (C535374)
..expandDouble Nail for Fifth Toe (C565090)
..expandECTODERMAL DYSPLASIA 4, HAIR/NAIL TYPE (OMIM:602032)
..expandEndothelial Dystrophy, Congenital Hereditary, with Nail Hypoplasia (C565591)
..expandEPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY (OMIM:616487)
..expandEpidermolysis bullosa, late-onset localized junctional, with mental retardation (C535492)
..expandFLOTCH syndrome (C537065)
..expandHooft disease (C535329)
..expandJudge Misch Wright syndrome (C537692)
..expandKeratoderma palmoplantar spastic paralysis (C536153)
..expandLeukonychia totalis (C535889)
..expandNail dysplasia, isolated congenital (C538333)
..expandNail-Patella Syndrome (D009261) Child1
..expandNails, Ingrown (D009263)
..expandOdontomicronychial dysplasia (C537741)
..expandOnychogryposis, Pedal, with Keratosis Plantaris and Coarse Hair (C563506)
..expandOnycholysis (D054039) Child3
..expandOnychomycosis (D014009)
..expandPachyonychia Congenita (D053549) Child5
..expandParonychia (D010304)
..expandPatel Bixler syndrome (C536306)
..expandPectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails (C563941)
..expandSubungual exostoses (C535723)
..expandT-cell immunodeficiency, congenital alopecia and nail dystrophy (C536781)
..expandToenail Dystrophy, Isolated (C564384)
..expandTrichoodontoonychial Dysplasia (C564760)
..expandTRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE (OMIM:601675)
..expandTwenty-Nail Dystrophy (C562907)
..expandYellow Nail Syndrome (D056684) Child1
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:9382
Name:Pachyonychia Congenita
Definition:A group of inherited ectodermal dysplasias whose most prominent clinical feature is hypertrophic nail dystrophy resulting in PACHYONYCHIA. Several specific subtypes of pachyonychia congenita have been associated with mutations in genes that encode KERATINS.
Alternative IDs:DO:DOID:0050449|OMIM:167200|OMIM:167210|OMIM:615726|OMIM:615728
ParentIDs:MESH:D004476|MESH:D009260
TreeNumbers:C16.131.077.350.856 |C16.131.831.350.856 |C16.320.850.250.856 |C17.800.529.594 |C17.800.804.350.856 |C17.800.827.250.856
Synonyms:Congenital Pachyonychia |Jackson Lawler Syndrome (Pc 2) |Jackson-Lawler Syndrome (Pc-2) |Jackson Lawler Type Pachyonychia Congenita |Jackson-Lawler Type Pachyonychia Congenita |Jadassohn Lewandowski Syndrome (Pc 1) |Jadassohn-Lewandowski Syndrome (Pc-1) |Jadass
Slim Mappings:Congenital abnormality|Genetic disease (inborn)|Skin disease
Reference: MedGen: D053549
MeSH: D053549
OMIM: 167200;
MSeqDR LSDB:  
Genes: KRT16; KRT17; KRT6A; KRT6B;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0007502Follicular hyperkeratosis
3 HP:0001425Heterogeneous
4 HP:0002745Oral leukoplakia
5 HP:0000972Palmoplantar hyperkeratosis
6 HP:0001805Thick nail
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_005557.4(KRT16):c.1281-16T>C3868KRT16Benign-1RCV001731067|RCV001731066|RCV002073959; NMONDO:MONDO:0013073,MedGen:C4552049,OMIM:613000|MONDO:MONDO:0008173,MedGen:C1706595,OMIM:167200, Orphanet:2309|MedGen:CN517202173976650439766504AG39766504-
NM_005557.4(KRT16):c.1062A>T (p.Lys354Asn)3868KRT16Likely pathogenicrs59328451RCV000015711|RCV000057025; NMONDO:MONDO:0008173,MedGen:C1706595,OMIM:167200, Orphanet:2309|MedGen:CN517202173976680139766801TA17:g.39766801T>AClinGen:CA217370,UniProtKB:P08779#VAR_017067,OMIM:148067.0008CN517202 not provided;
NM_005557.4(KRT16):c.644C>G (p.Thr215Ser)3868KRT16Conflicting interpretations of pathogenicityrs147423442RCV000974397|RCV001334413; NMedGen:CN517202|MONDO:MONDO:0008173,MedGen:C1706595,OMIM:167200, Orphanet:2309173976772439767724GC17:g.39767724G>C-
NM_005557.4(KRT16):c.624T>C (p.His208=)3868KRT16Benign-1RCV001667671|RCV001730943|RCV001730944; NMedGen:CN517202|MONDO:MONDO:0008173,MedGen:C1706595,OMIM:167200, Orphanet:2309|MONDO:MONDO:0013073,MedGen:C4552049,OMIM:613000173976774439767744AG39767744-
NM_005557.4(KRT16):c.539C>T (p.Ala180Val)3868KRT16Conflicting interpretations of pathogenicityrs142750223RCV000714558|RCV000714559|RCV000958416; NMONDO:MONDO:0008173,MedGen:C1706595,OMIM:167200, Orphanet:2309|Human Phenotype Ontology:HP:0007559,MONDO:MONDO:0007758,MedGen:C1721006,OMIM:144200, Orphanet:2199|MedGen:CN517202173976796639767966GANC_000017.10:g.39767966G>A-
NM_005557.4(KRT16):c.395T>C (p.Leu132Pro)3868KRT16Pathogenicrs60944949RCV000015704|RCV000057042; NMONDO:MONDO:0008173,MedGen:C1706595,OMIM:167200, Orphanet:2309|MedGen:CN517202173976854639768546AG17:g.39768546A>GClinGen:CA217389,UniProtKB:P08779#VAR_003846,OMIM:148067.0001CN517202 not provided;
NM_005557.4(KRT16):c.386CCT[1] (p.Ser130del)3868KRT16Pathogenicrs58181827RCV000015707|RCV000057041; NMONDO:MONDO:0008173,MedGen:C1706595,OMIM:167200, Orphanet:2309|MedGen:CN517202173976855039768552TAGGT17:g.39768550_39768552delClinGen:CA217387,OMIM:148067.0004CN517202 not provided;
NM_005557.4(KRT16):c.383T>A (p.Leu128Gln)3868KRT16Pathogenicrs28928895RCV000015713|RCV000057040; NMONDO:MONDO:0008173,MedGen:C1706595,OMIM:167200, Orphanet:2309|MedGen:CN517202173976855839768558AT17:g.39768558A>TClinGen:CA217386,UniProtKB:P08779#VAR_017066,OMIM:148067.0010CN517202 not provided;
NM_005557.4(KRT16):c.380G>C (p.Arg127Pro)3868KRT16Pathogenicrs57424749RCV000015708|RCV000057039; NMONDO:MONDO:0008173,MedGen:C1706595,OMIM:167200, Orphanet:2309|MedGen:CN517202173976856139768561CG17:g.39768561C>GClinGen:CA217385,UniProtKB:P08779#VAR_012856,OMIM:148067.0005CN517202 not provided;
NM_005557.4(KRT16):c.379C>T (p.Arg127Cys)3868KRT16Pathogenicrs59856285RCV000015705|RCV000057038|RCV000578284; NMONDO:MONDO:0013073,MedGen:C4552049,OMIM:613000|MedGen:CN517202|MONDO:MONDO:0008173,MedGen:C1706595,OMIM:167200, Orphanet:2309173976856239768562GA17:g.39768562G>AClinGen:CA124157,UniProtKB:P08779#VAR_009184,OMIM:148067.0002CN517202 not provided;
NM_005557.4(KRT16):c.374A>G (p.Asn125Ser)3868KRT16Pathogenicrs60723330RCV000015706|RCV000057037|RCV000144080|RCV000763397; NMONDO:MONDO:0013073,MedGen:C4552049,OMIM:613000|MedGen:CN517202|MONDO:MONDO:0008173,MedGen:C1706595,OMIM:167200, Orphanet:2309|MONDO:MONDO:0013073,MedGen:C4552049,OMIM:613000; MONDO:MONDO:0008173,MedGen:C1706595,OMIM:167200, Orphanet:2309173976856739768567TC17:g.39768567T>CClinGen:CA124158,UniProtKB:P08779#VAR_009183,OMIM:148067.0003CN517202 not provided;
NM_005557.4(KRT16):c.373_374delinsGG (p.Asn125Gly)3868KRT16Pathogenicrs587777717RCV000144082; NMONDO:MONDO:0008173,MedGen:C1706595,OMIM:167200, Orphanet:2309173976856739768568TTCCNC_000017.10:g.39768567_39768568delinsCCClinGen:CA270676,OMIM:148067.0013C1706595 167200 Pachyonychia congenita 1;
NM_005557.4(KRT16):c.373A>G (p.Asn125Asp)3868KRT16Pathogenicrs58608173RCV000057036|RCV000144081; NMedGen:CN517202|MONDO:MONDO:0008173,MedGen:C1706595,OMIM:167200, Orphanet:2309173976856839768568TC17:g.39768568T>CUniProtKB:P08779#VAR_072438,OMIM:148067.0012,ClinGen:CA217384CN517202 not provided;
NM_005557.4(KRT16):c.371T>G (p.Leu124Arg)3868KRT16Pathogenicrs58293603RCV000015710|RCV000057034; NMONDO:MONDO:0008173,MedGen:C1706595,OMIM:167200, Orphanet:2309|MedGen:CN517202173976857039768570AC17:g.39768570A>CClinGen:CA217381,UniProtKB:P08779#VAR_013837,OMIM:148067.0007CN517202 not provided;
NM_005557.4(KRT16):c.365A>C (p.Gln122Pro)3868KRT16Pathogenicrs59349773RCV000015709|RCV000057031; NMONDO:MONDO:0008173,MedGen:C1706595,OMIM:167200, Orphanet:2309|MedGen:CN517202173976857639768576TG17:g.39768576T>GClinGen:CA217378,UniProtKB:P08779#VAR_012855,OMIM:148067.0006CN517202 not provided;
NM_005557.4(KRT16):c.365A>G (p.Gln122Arg)3868KRT16Likely pathogenicrs59349773RCV000198279; NMONDO:MONDO:0008173,MedGen:C1706595,OMIM:167200, Orphanet:2309173976857639768576TC17:g.39768576T>CClinGen:CA277512C1706595 167200 Pachyonychia congenita 1;
NM_005557.4(KRT16):c.362T>C (p.Met121Thr)3868KRT16Pathogenicrs28928894RCV000015712|RCV000057030; NMONDO:MONDO:0008173,MedGen:C1706595,OMIM:167200, Orphanet:2309|MedGen:CN517202173976857939768579AG17:g.39768579A>GClinGen:CA217377,UniProtKB:P08779#VAR_017065,OMIM:148067.0009CN517202 not provided;
MSeqDR Portal