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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

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Keratoderma, Palmoplantar (D007645)
..Starting node ..Papillon-Lefevre Disease (D010214)
Child Nodes:
........Keratoderma palmoplantaris transgrediens (C536154)
........Keratosis palmoplantaris with periodontopathia and onychogryposis (C537627)
Sister Nodes:
..Acrokeratoelastoidosis of Costa (C535653)
..Alopecia congenita keratosis palmoplantaris (C537050)
..Basaran Yilmaz syndrome (C537660)
..Cardiomyopathy dilated with Woolly hair and keratoderma (C535581)
..Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (C537943)
..Corneodermatoosseous syndrome (C536444)
..Fitzsimmons-McLachlan-Gilbert syndrome (C537058)
..Hyperkeratosis-Hyperpigmentation Syndrome (C564172)
..Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome (C564357)
..Judge Misch Wright syndrome (C537692)
..Keratoderma palmoplantar deafness (C536152)
..Keratoderma palmoplantar spastic paralysis (C536153)
..Keratoderma, Palmoplantar, Diffuse (D015776) 7
..Keratoderma, Palmoplantar, Norrbotten Recessive Type (C565454)
..Keratosis focal palmoplantar gingival (C536157)
..Keratosis Palmaris et Plantaris with Clinodactyly (C563646)
..Keratosis palmoplantaris papulosa (C536161)
..Keratosis palmoplantaris striata 1 (C536162)
..Keratosis palmoplantaris striata 3 (C536163)
..Keratosis Palmoplantaris Striata II (C565102)
..Keratosis palmoplantaris with esophageal cancer (C536164)
..Knuckle pads, leuconychia and sensorineural deafness (C537210)
..Naegeli syndrome (C538331)
..Naxos disease (C538346)
..Palmoplantar Hyperkeratosis And True Hermaphroditism (C567165)
..PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL (OMIM:610644)
..Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal (C565693)
..Palmoplantar Keratoderma with Deafness (C580359)
..Palmoplantar Keratoderma, Epidermolytic, with Knuckle Pads (C564171)
..Papillon-Lefevre Disease (D010214) 2
..Patel Bixler syndrome (C536306)
..Porokeratosis punctata palmaris et plantaris (C536338)
..Powell Venencie Gordon syndrome (C538358)
..Schopf-Schulz-Passarge Syndrome (C565607)
..Stern Lubinsky Durrie syndrome (C537488)
..Vohwinkel syndrome (C536457)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

8585

Name:

Papillon-Lefevre Disease

Definition:

Rare, autosomal recessive disorder occurring between the first and fifth years of life. It is characterized by palmoplantar keratoderma with periodontitis followed by the premature shedding of both deciduous and permanent teeth. Mutations in the gene for CATHEPSIN C have been associated with this disease.

Alternative IDs:

OMIM:245000

ParentIDs:

MESH:D007645

TreeNumbers:

C16.320.850.475.600 |C17.800.428.435.600 |C17.800.827.475.600

Synonyms:

Slim Mappings:

Genetic disease (inborn)|Skin disease

Reference:

MedGen: D010214
MeSH: D010214
OMIM: 245000;

Genes: CTSC;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0006308	Atrophy of alveolar ridges
3	HP:0006960	Choroid plexus calcification
4	HP:0000972	Palmoplantar hyperkeratosis
5	HP:0006480	Premature loss of teeth
6	HP:0000166	Severe periodontitis

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_001814.5(CTSC):c.1287G>C (p.Trp429Cys)	1075	CTSC	Pathogenic	104894215	RCV000007721;	N	MedGen:C0030360,OMIM:245000,ORPHA:678,SNOMED CT:40158001	11	88027279	88027279	NM_001814.5:c.1287G>C	NP_001805.3:p.Trp429Cys	NC_000011.9:g.88027279C>G	OMIM Allelic Variant:602365.0010	C0030360 245000 Papillon-Lefèvre syndrome
NM_001814.5(CTSC):c.1056delT (p.Tyr352Terfs)	1075	CTSC	Pathogenic	587777532	RCV000128618;	N	MedGen:C0030360,OMIM:245000,ORPHA:678,SNOMED CT:40158001	11	88027510	88027510	NM_001814.5:c.1056delT	NP_001805.3:p.Tyr352Terfs		OMIM Allelic Variant:602365.0014	C0030360 245000 Papillon-Lefèvre syndrome
NM_001814.5(CTSC):c.1047delA (p.Gly350Valfs)	1075	CTSC	Pathogenic	587776655	RCV000007716;	N	MedGen:C0030360,OMIM:245000,ORPHA:678,SNOMED CT:40158001	11	88027519	88027519	NM_001814.5:c.1047delA	NP_001805.3:p.Gly350Valfs	NC_000011.9:g.88027519delT	OMIM Allelic Variant:602365.0005	C0030360 245000 Papillon-Lefèvre syndrome
NM_001814.5(CTSC):c.1040A>G (p.Tyr347Cys)	1075	CTSC	Pathogenic	104894211	RCV000128617; RCV000007724;	N	MedGen:C0030360,OMIM:245000,ORPHA:678,SNOMED CT:40158001; MedGen:C0031106,OMIM:170650	11	88027526	88027526	NM_001814.5:c.1040A>G	NP_001805.3:p.Tyr347Cys		OMIM Allelic Variant:602365.0013	C0030360 245000 Papillon-Lefèvre syndrome; C0031106 170650 Periodontitis, aggressive, 1
NM_001814.5(CTSC):c.901G>A (p.Gly301Ser)	1075	CTSC	Pathogenic	104894214	RCV000007720;	N	MedGen:C0030360,OMIM:245000,ORPHA:678,SNOMED CT:40158001	11	88027665	88027665	NM_001814.5:c.901G>A	NP_001805.3:p.Gly301Ser	NC_000011.9:g.88027665C>T	OMIM Allelic Variant:602365.0009	C0030360 245000 Papillon-Lefèvre syndrome
NM_001814.5(CTSC):c.890-1G>A	1075	CTSC	Pathogenic	587776654	RCV000007713;	N	MedGen:C0030360,OMIM:245000,ORPHA:678,SNOMED CT:40158001	11	88027677	88027677	NM_001814.5:c.890-1G>A			OMIM Allelic Variant:602365.0002	C0030360 245000 Papillon-Lefèvre syndrome
NM_001814.5(CTSC):c.857A>G (p.Gln286Arg)	1075	CTSC	Pathogenic	104894208	RCV000179387; RCV000007717;	N	MedGen:C0030360,OMIM:245000,ORPHA:678,SNOMED CT:40158001; MedGen:C1855627,OMIM:245010,ORPHA:2342	11	88029333	88029333	NM_001814.5:c.857A>G	NP_001805.3:p.Gln286Arg		OMIM Allelic Variant:602365.0006	C1855627 245010 Haim-Munk syndrome; C0030360 245000 Papillon-Lefèvre syndrome
NM_001814.5(CTSC):c.856C>T (p.Gln286Ter)	1075	CTSC	Pathogenic	104894209	RCV000007715;	N	MedGen:C0030360,OMIM:245000,ORPHA:678,SNOMED CT:40158001	11	88029334	88029334	NM_001814.5:c.856C>T	NP_001805.3:p.Gln286Ter	NC_000011.9:g.88029334G>A	OMIM Allelic Variant:602365.0004,OMIM Allelic Variant:602365.0007	C0030360 245000 Papillon-Lefèvre syndrome
NM_001814.5(CTSC):c.755A>T (p.Gln252Leu)	1075	CTSC	Pathogenic	104894207	RCV000007714;	N	MedGen:C0030360,OMIM:245000,ORPHA:678,SNOMED CT:40158001	11	88033700	88033700	NM_001814.5:c.755A>T	NP_001805.3:p.Gln252Leu	NC_000011.9:g.88033700T>A	OMIM Allelic Variant:602365.0003	C0030360 245000 Papillon-Lefèvre syndrome
NM_001814.5(CTSC):c.628C>T (p.Arg210Ter)	1075	CTSC	Pathogenic	104894206	RCV000007712;	N	MedGen:C0030360,OMIM:245000,ORPHA:678,SNOMED CT:40158001	11	88042344	88042344	NM_001814.5:c.628C>T	NP_001805.3:p.Arg210Ter	NC_000011.9:g.88042344G>A	OMIM Allelic Variant:602365.0001	C0030360 245000 Papillon-Lefèvre syndrome
NM_001814.5(CTSC):c.380A>C (p.His127Pro)	1075	CTSC	Pathogenic	104894216	RCV000007722;	N	MedGen:C0030360,OMIM:245000,ORPHA:678,SNOMED CT:40158001	11	88045661	88045661	NM_001814.5:c.380A>C	NP_001805.3:p.His127Pro	NC_000011.9:g.88045661T>G	OMIM Allelic Variant:602365.0011	C0030360 245000 Papillon-Lefèvre syndrome
NM_001814.4(CTSC):c.116G>C (p.Trp39Ser)	1075	CTSC	Pathogenic	104894210	RCV000007719;	N	MedGen:C0030360,OMIM:245000,ORPHA:678,SNOMED CT:40158001	11	88070725	88070725	NM_001814.4:c.116G>C	NP_001805.3:p.Trp39Ser	NC_000011.9:g.88070725C>G	OMIM Allelic Variant:602365.0008	C0030360 245000 Papillon-Lefèvre syndrome
NM_001814.4(CTSC):c.96T>G (p.Tyr32Ter)	1075	CTSC	Pathogenic	587777533	RCV000128619;	N	MedGen:C0030360,OMIM:245000,ORPHA:678,SNOMED CT:40158001	11	88070745	88070745	NM_001814.4:c.96T>G	NP_001805.3:p.Tyr32Ter	NC_000011.9:g.88070745A>C	OMIM Allelic Variant:602365.0015	C0030360 245000 Papillon-Lefèvre syndrome