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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

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 ..Keratosis palmoplantaris striata 1 (C536162)
Child Nodes:
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:

6081

Name:

Keratosis palmoplantaris striata 1

Definition:

Alternative IDs:

OMIM:148700

ParentIDs:

MESH:D007645

TreeNumbers:

C16.320.850.475/C536162 |C17.800.428.435/C536162 |C17.800.827.475/C536162

Synonyms:

Slim Mappings:

Genetic disease (inborn)|Skin disease

Reference:

MedGen: C536162
MeSH: C536162
OMIM: 148700;

Genes: DSG1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0025092	Epidermal acanthosis
3	HP:0000975	Hyperhidrosis	HP:0040283
4	HP:0008404	Nail dystrophy	HP:0040283
5	HP:0001806	Onycholysis	HP:0040283
6	HP:0000982	Palmoplantar keratoderma
7	HP:0007501	Streaks of hyperkeratosis along each finger onto the palm

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_001942.3(DSG1):c.76C>T (p.Arg26Ter)	1828	DSG1	Pathogenic	397515639	RCV000074351;	N	MedGen:C1835661,OMIM:148700	18	28906571	28906571	NM_001942.3:c.76C>T	NP_001933.2:p.Arg26Ter	NC_000018.9:g.28906571C>T	OMIM Allelic Variant:125670.0004	C1835661 148700 Keratosis palmoplantaris striata 1
NM_001942.3(DSG1):c.121dupT (p.Trp41Leufs)	1828	DSG1	Pathogenic	398122951	RCV000074352;	N	MedGen:C1835661,OMIM:148700	18	28906873	28906873	NM_001942.3:c.121dupT	NP_001933.2:p.Trp41Leufs	NC_000018.9:g.28906873dupT	OMIM Allelic Variant:125670.0005	C1835661 148700 Keratosis palmoplantaris striata 1
NM_001942.3(DSG1):c.430A>T (p.Arg144Ter)	1828	DSG1	Pathogenic	397515641	RCV000074354;	N	MedGen:C1835661,OMIM:148700	18	28909912	28909912	NM_001942.3:c.430A>T	NP_001933.2:p.Arg144Ter	NC_000018.9:g.28909912A>T	OMIM Allelic Variant:125670.0007	C1835661 148700 Keratosis palmoplantaris striata 1
NM_001942.3(DSG1):c.601C>T (p.Gln201Ter)	1828	DSG1	Pathogenic	397515640	RCV000074353;	N	MedGen:C1835661,OMIM:148700	18	28911747	28911747	NM_001942.3:c.601C>T	NP_001933.2:p.Gln201Ter	NC_000018.9:g.28911747C>T	OMIM Allelic Variant:125670.0006	C1835661 148700 Keratosis palmoplantaris striata 1
NM_001942.3(DSG1):c.1079dupC (p.Ile361Asnfs)	1828	DSG1	Pathogenic	398122949	RCV000074349;	N	MedGen:C1835661,OMIM:148700	18	28916390	28916390	NM_001942.3:c.1079dupC	NP_001933.2:p.Ile361Asnfs	NC_000018.9:g.28916390dupC	OMIM Allelic Variant:125670.0002	C1835661 148700 Keratosis palmoplantaris striata 1
NM_001942.3(DSG1):c.1627delA (p.Asn543Metfs)	1828	DSG1	Pathogenic	398122950	RCV000074350;	N	MedGen:C1835661,OMIM:148700	18	28919928	28919928	NM_001942.3:c.1627delA	NP_001933.2:p.Asn543Metfs	NC_000018.9:g.28919928delA	OMIM Allelic Variant:125670.0003	C1835661 148700 Keratosis palmoplantaris striata 1
NM_000112.3(SLC26A2):c.532C>T (p.Arg178Ter)	1836	SLC26A2	Pathogenic	104893919	RCV000004310; RCV000175526; RCV000023568;	N	MedGen:C0220726,OMIM:222600,ORPHA:628,SNOMED CT:58561002; MedGen:C0265274,OMIM:600972,SNOMED CT:14870002; MedGen:C1847593,OMIM:226900,ORPHA:93307	5	149357747	149357747	NM_000112.3:c.532C>T	NP_000103.2:p.Arg178Ter	NC_000005.9:g.149357747C>T	OMIM Allelic Variant:606718.0005	C0265274 600972 Achondrogenesis, type IB; C0220726 222600 Diastrophic dysplasia; C1835661 148700 Keratosis palmoplantaris striata 1; C1847593 226900 Multiple epiphyseal dysplasia 4
NM_000112.3(SLC26A2):c.1020_1022delTGT (p.Val341del)	1836	SLC26A2	Likely pathogenic;Pathogenic	121908077	RCV000055756; RCV000169159; RCV000023571;	N	MedGen:C0220726,OMIM:222600,ORPHA:628,SNOMED CT:58561002; MedGen:C0265274,OMIM:600972,SNOMED CT:14870002; MedGen:C1847593,OMIM:226900,ORPHA:93307	5	149360176	149360178	NM_000112.3:c.1020_1022delTGT	NP_000103.2:p.Val341del	NC_000005.9:g.149360176_149360178delTGT	OMIM Allelic Variant:606718.0008	C0265274 600972 Achondrogenesis, type IB; C0220726 222600 Diastrophic dysplasia; C1835661 148700 Keratosis palmoplantaris striata 1; C1847593 226900 Multiple epiphyseal dysplasia 4
NM_000112.3(SLC26A2):c.1273A>G (p.Asn425Asp)	1836	SLC26A2	Pathogenic	104893920	RCV000055757; RCV000023569;	N	MedGen:C0220726,OMIM:222600,ORPHA:628,SNOMED CT:58561002; MedGen:C0265274,OMIM:600972,SNOMED CT:14870002	5	149360429	149360429	NM_000112.3:c.1273A>G	NP_000103.2:p.Asn425Asp	NC_000005.9:g.149360429A>G	OMIM Allelic Variant:606718.0006	C0265274 600972 Achondrogenesis, type IB; C0220726 222600 Diastrophic dysplasia; C1835661 148700 Keratosis palmoplantaris striata 1
NM_000112.3(SLC26A2):c.1724delA (p.Lys575Serfs)	1836	SLC26A2	Likely pathogenic;Pathogenic	386833498	RCV000004302; RCV000004303; RCV000023567;	N	MedGen:C0220726,OMIM:222600,ORPHA:628,SNOMED CT:58561002; MedGen:C0265274,OMIM:600972,SNOMED CT:14870002; MedGen:C1850554,OMIM:256050	5	149360880	149360880	NM_000112.3:c.1724delA	NP_000103.2:p.Lys575Serfs	NC_000005.9:g.149360880delA	OMIM Allelic Variant:606718.0001	C0265274 600972 Achondrogenesis, type IB; C1850554 256050 Atelosteogenesis type 2; C0220726 222600 Diastrophic dysplasia; C1835661 148700 Keratosis palmoplantaris striata 1
NM_000112.3(SLC26A2):c.2033G>T (p.Gly678Val)	1836	SLC26A2	Likely pathogenic;Pathogenic	104893916	RCV000055761; RCV000169017; RCV000023570;	N	MedGen:C0220726,OMIM:222600,ORPHA:628,SNOMED CT:58561002; MedGen:C0265274,OMIM:600972,SNOMED CT:14870002; MedGen:C1847593,OMIM:226900,ORPHA:93307	5	149361189	149361189	NM_000112.3:c.2033G>T	NP_000103.2:p.Gly678Val	NC_000005.9:g.149361189G>T	OMIM Allelic Variant:606718.0007	C0265274 600972 Achondrogenesis, type IB; C0220726 222600 Diastrophic dysplasia; C1835661 148700 Keratosis palmoplantaris striata 1; C1847593 226900 Multiple epiphyseal dysplasia 4