MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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: Ectodermal Dysplasia (D004476)
Parent Node: Nail Diseases (D009260)
..Starting node ..Pachyonychia Congenita (D053549)
Child Nodes:
........Gorlin Bushkell Jensen syndrome (C537289)
........Pachyonychia congenita recessive (C538094)
........Steatocystoma Multiplex (D062685) 2
Sister Nodes:
..Al Gazali Hirschsprung syndrome (C535615)
..Basaran Yilmaz syndrome (C537660)
..Brachydactyly type A5 nail dysplasia (C537091)
..Candidiasis, Familial, 3 (C564361)
..Dermatopathia pigmentosa reticularis (C535374)
..Double Nail for Fifth Toe (C565090)
..ECTODERMAL DYSPLASIA 4, HAIR/NAIL TYPE (OMIM:602032)
..Endothelial Dystrophy, Congenital Hereditary, with Nail Hypoplasia (C565591)
..EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY (OMIM:616487)
..Epidermolysis bullosa, late-onset localized junctional, with mental retardation (C535492)
..FLOTCH syndrome (C537065)
..Hooft disease (C535329)
..Judge Misch Wright syndrome (C537692)
..Keratoderma palmoplantar spastic paralysis (C536153)
..Leukonychia totalis (C535889)
..Nail dysplasia, isolated congenital (C538333)
..Nail-Patella Syndrome (D009261) 1
..Nails, Ingrown (D009263)
..Odontomicronychial dysplasia (C537741)
..Onychogryposis, Pedal, with Keratosis Plantaris and Coarse Hair (C563506)
..Onycholysis (D054039) 3
..Onychomycosis (D014009)
..Pachyonychia Congenita (D053549) 5
..Paronychia (D010304)
..Patel Bixler syndrome (C536306)
..Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails (C563941)
..Subungual exostoses (C535723)
..T-cell immunodeficiency, congenital alopecia and nail dystrophy (C536781)
..Toenail Dystrophy, Isolated (C564384)
..Trichoodontoonychial Dysplasia (C564760)
..TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE (OMIM:601675)
..Twenty-Nail Dystrophy (C562907)
..Yellow Nail Syndrome (D056684) 1
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:

Slim Mappings:

Congenital abnormality|Genetic disease (inborn)|Skin disease

Reference:

MedGen: D053549
MeSH: D053549
OMIM: 167200;
MSeqDR :
Genes: KRT16; KRT17; KRT6A; KRT6B;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0007502	Follicular hyperkeratosis
3	HP:0001425	Heterogeneous
4	HP:0002745	Oral leukoplakia
5	HP:0000972	Palmoplantar hyperkeratosis
6	HP:0001805	Thick nail

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_005557.4(KRT16):c.1281-16T>C	3868	KRT16	Benign	-1	RCV001731067\|RCV001731066\|RCV002073959;	N	MONDO:MONDO:0013073,MedGen:C4552049,OMIM:613000\|MONDO:MONDO:0008173,MedGen:C1706595,OMIM:167200, Orphanet:2309\|MedGen:CN517202	17	39766504	39766504	A	G	39766504	-
NM_005557.4(KRT16):c.1062A>T (p.Lys354Asn)	3868	KRT16	Likely pathogenic	rs59328451	RCV000015711\|RCV000057025;	N	MONDO:MONDO:0008173,MedGen:C1706595,OMIM:167200, Orphanet:2309\|MedGen:CN517202	17	39766801	39766801	T	A	17:g.39766801T>A	ClinGen:CA217370,UniProtKB:P08779#VAR_017067,OMIM:148067.0008	CN517202 not provided;
NM_005557.4(KRT16):c.644C>G (p.Thr215Ser)	3868	KRT16	Conflicting interpretations of pathogenicity	rs147423442	RCV000974397\|RCV001334413;	N	MedGen:CN517202\|MONDO:MONDO:0008173,MedGen:C1706595,OMIM:167200, Orphanet:2309	17	39767724	39767724	G	C	17:g.39767724G>C	-
NM_005557.4(KRT16):c.624T>C (p.His208=)	3868	KRT16	Benign	-1	RCV001667671\|RCV001730943\|RCV001730944;	N	MedGen:CN517202\|MONDO:MONDO:0008173,MedGen:C1706595,OMIM:167200, Orphanet:2309\|MONDO:MONDO:0013073,MedGen:C4552049,OMIM:613000	17	39767744	39767744	A	G	39767744	-
NM_005557.4(KRT16):c.539C>T (p.Ala180Val)	3868	KRT16	Conflicting interpretations of pathogenicity	rs142750223	RCV000714558\|RCV000714559\|RCV000958416;	N	MONDO:MONDO:0008173,MedGen:C1706595,OMIM:167200, Orphanet:2309\|Human Phenotype Ontology:HP:0007559,MONDO:MONDO:0007758,MedGen:C1721006,OMIM:144200, Orphanet:2199\|MedGen:CN517202	17	39767966	39767966	G	A	NC_000017.10:g.39767966G>A	-
NM_005557.4(KRT16):c.395T>C (p.Leu132Pro)	3868	KRT16	Pathogenic	rs60944949	RCV000015704\|RCV000057042;	N	MONDO:MONDO:0008173,MedGen:C1706595,OMIM:167200, Orphanet:2309\|MedGen:CN517202	17	39768546	39768546	A	G	17:g.39768546A>G	ClinGen:CA217389,UniProtKB:P08779#VAR_003846,OMIM:148067.0001	CN517202 not provided;
NM_005557.4(KRT16):c.386CCT[1] (p.Ser130del)	3868	KRT16	Pathogenic	rs58181827	RCV000015707\|RCV000057041;	N	MONDO:MONDO:0008173,MedGen:C1706595,OMIM:167200, Orphanet:2309\|MedGen:CN517202	17	39768550	39768552	TAGG	T	17:g.39768550_39768552del	ClinGen:CA217387,OMIM:148067.0004	CN517202 not provided;
NM_005557.4(KRT16):c.383T>A (p.Leu128Gln)	3868	KRT16	Pathogenic	rs28928895	RCV000015713\|RCV000057040;	N	MONDO:MONDO:0008173,MedGen:C1706595,OMIM:167200, Orphanet:2309\|MedGen:CN517202	17	39768558	39768558	A	T	17:g.39768558A>T	ClinGen:CA217386,UniProtKB:P08779#VAR_017066,OMIM:148067.0010	CN517202 not provided;
NM_005557.4(KRT16):c.380G>C (p.Arg127Pro)	3868	KRT16	Pathogenic	rs57424749	RCV000015708\|RCV000057039;	N	MONDO:MONDO:0008173,MedGen:C1706595,OMIM:167200, Orphanet:2309\|MedGen:CN517202	17	39768561	39768561	C	G	17:g.39768561C>G	ClinGen:CA217385,UniProtKB:P08779#VAR_012856,OMIM:148067.0005	CN517202 not provided;
NM_005557.4(KRT16):c.379C>T (p.Arg127Cys)	3868	KRT16	Pathogenic	rs59856285	RCV000015705\|RCV000057038\|RCV000578284;	N	MONDO:MONDO:0013073,MedGen:C4552049,OMIM:613000\|MedGen:CN517202\|MONDO:MONDO:0008173,MedGen:C1706595,OMIM:167200, Orphanet:2309	17	39768562	39768562	G	A	17:g.39768562G>A	ClinGen:CA124157,UniProtKB:P08779#VAR_009184,OMIM:148067.0002	CN517202 not provided;
NM_005557.4(KRT16):c.374A>G (p.Asn125Ser)	3868	KRT16	Pathogenic	rs60723330	RCV000015706\|RCV000057037\|RCV000144080\|RCV000763397;	N	MONDO: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:2309	17	39768567	39768567	T	C	17:g.39768567T>C	ClinGen:CA124158,UniProtKB:P08779#VAR_009183,OMIM:148067.0003	CN517202 not provided;
NM_005557.4(KRT16):c.373_374delinsGG (p.Asn125Gly)	3868	KRT16	Pathogenic	rs587777717	RCV000144082;	N	MONDO:MONDO:0008173,MedGen:C1706595,OMIM:167200, Orphanet:2309	17	39768567	39768568	TT	CC	NC_000017.10:g.39768567_39768568delinsCC	ClinGen:CA270676,OMIM:148067.0013	C1706595 167200 Pachyonychia congenita 1;
NM_005557.4(KRT16):c.373A>G (p.Asn125Asp)	3868	KRT16	Pathogenic	rs58608173	RCV000057036\|RCV000144081;	N	MedGen:CN517202\|MONDO:MONDO:0008173,MedGen:C1706595,OMIM:167200, Orphanet:2309	17	39768568	39768568	T	C	17:g.39768568T>C	UniProtKB:P08779#VAR_072438,OMIM:148067.0012,ClinGen:CA217384	CN517202 not provided;
NM_005557.4(KRT16):c.371T>G (p.Leu124Arg)	3868	KRT16	Pathogenic	rs58293603	RCV000015710\|RCV000057034;	N	MONDO:MONDO:0008173,MedGen:C1706595,OMIM:167200, Orphanet:2309\|MedGen:CN517202	17	39768570	39768570	A	C	17:g.39768570A>C	ClinGen:CA217381,UniProtKB:P08779#VAR_013837,OMIM:148067.0007	CN517202 not provided;
NM_005557.4(KRT16):c.365A>C (p.Gln122Pro)	3868	KRT16	Pathogenic	rs59349773	RCV000015709\|RCV000057031;	N	MONDO:MONDO:0008173,MedGen:C1706595,OMIM:167200, Orphanet:2309\|MedGen:CN517202	17	39768576	39768576	T	G	17:g.39768576T>G	ClinGen:CA217378,UniProtKB:P08779#VAR_012855,OMIM:148067.0006	CN517202 not provided;
NM_005557.4(KRT16):c.365A>G (p.Gln122Arg)	3868	KRT16	Likely pathogenic	rs59349773	RCV000198279;	N	MONDO:MONDO:0008173,MedGen:C1706595,OMIM:167200, Orphanet:2309	17	39768576	39768576	T	C	17:g.39768576T>C	ClinGen:CA277512	C1706595 167200 Pachyonychia congenita 1;
NM_005557.4(KRT16):c.362T>C (p.Met121Thr)	3868	KRT16	Pathogenic	rs28928894	RCV000015712\|RCV000057030;	N	MONDO:MONDO:0008173,MedGen:C1706595,OMIM:167200, Orphanet:2309\|MedGen:CN517202	17	39768579	39768579	A	G	17:g.39768579A>G	ClinGen:CA217377,UniProtKB:P08779#VAR_017065,OMIM:148067.0009	CN517202 not provided;

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