Palmoplantar Keratoderma I, Striate, Focal, or Diffuse disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Palmoplantar Keratoderma I, Striate, Focal, or Diffuse

MalaCards integrated aliases for Palmoplantar Keratoderma I, Striate, Focal, or Diffuse:

Name: Palmoplantar Keratoderma I, Striate, Focal, or Diffuse ⁵⁸

Keratosis Palmoplantaris Striata 1 ⁵⁴ ³⁰ ⁶ ⁷⁴

Keratosis Palmoplantaris Striata I ⁵⁸ ⁷⁶ ¹³

Ppks1 ⁵⁸ ⁵⁴ ⁷⁶

Sppk1 ⁵⁸ ⁵⁴ ⁷⁶

Keratoderma, Palmoplantar, Striate Form I ⁵⁸ ⁷⁶

Keratosis Palmoplantaris Striata I, Ad ⁵⁸ ³⁰

Striate Palmoplantar Keratoderma I ⁵⁸ ⁷⁶

Kpps1 ⁵⁸ ⁷⁶

Diffuse Palmoplantar Keratoderma with Painful Fissures ⁶⁰

Palmoplantar Keratoderma 1, Striate, Focal, or Diffuse ⁷⁶

Focal Palmoplantar Keratoderma with Joint Keratoses ⁶⁰

Keratoderma, Palmoplantar, Striate Form I; Kpps1 ⁵⁸

Striate Palmoplantar Keratoderma I; Sppk1 ⁵⁸

Keratoderma, Palmoplantar Striate Form 1 ⁵⁴

Keratosis Palmoplantaris Striata, Type 1 ⁴¹

Striate Palmoplantar Keratoderma 1 ⁵⁴

Characteristics:

Orphanet epidemiological data:

⁶⁰

focal palmoplantar keratoderma with joint keratoses
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

diffuse palmoplantar keratoderma with painful fissures
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM:

⁵⁸

Inheritance:
autosomal dominant

Miscellaneous:
male predominance

HPO:

³³

palmoplantar keratoderma i, striate, focal, or diffuse:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Skin diseases

See all MalaCards categories (disease lists)

ICD10: ³⁵

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other congenital malformations of skin

Other specified congenital malformations of skin

Orphanet: ⁶⁰

Rare skin diseases

External Ids:

OMIM ⁵⁸ 148700

MeSH ⁴⁵ D007645

ICD10 via Orphanet ³⁵ Q82.8

Orphanet ⁶⁰ ORPHA369999 ORPHA370002

MedGen ⁴³ C1835661 C2931122

SNOMED-CT via HPO ⁷⁰ 161857006 263681008 312230002 more

UMLS ⁷⁴ C2931122

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Summaries for Palmoplantar Keratoderma I, Striate, Focal, or Diffuse

OMIM : ⁵⁸ Striate palmoplantar keratoderma belongs to a group of skin diseases in which there is thickening of the skin on the palms and soles. The striate form is characterized by longitudinal hyperkeratotic lesions extending the length of each finger to the palm, and hyperkeratotic lesions are restricted to regions of the body where pressure and abrasion are greatest (summary by Hunt et al., 2001). Patients with diffuse or focal forms of keratoderma associated with mutation in the DSG1 gene have also been reported (Keren et al., 2005; Milingou et al., 2006). (148700)

MalaCards based summary : Palmoplantar Keratoderma I, Striate, Focal, or Diffuse, also known as keratosis palmoplantaris striata 1, is related to keratosis palmoplantaris striata ii. An important gene associated with Palmoplantar Keratoderma I, Striate, Focal, or Diffuse is DSG1 (Desmoglein 1). Affiliated tissues include skin, and related phenotypes are hyperhidrosis and nail dystrophy

UniProtKB/Swiss-Prot : ⁷⁶ Palmoplantar keratoderma 1, striate, focal, or diffuse: A dermatological disorder characterized by thickening of the skin on the palms and soles, and longitudinal hyperkeratotic lesions on the palms, running the length of each finger.

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Related Diseases for Palmoplantar Keratoderma I, Striate, Focal, or Diffuse

Diseases related to Palmoplantar Keratoderma I, Striate, Focal, or Diffuse via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	keratosis palmoplantaris striata ii	11.2

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Symptoms & Phenotypes for Palmoplantar Keratoderma I, Striate, Focal, or Diffuse

Human phenotypes related to Palmoplantar Keratoderma I, Striate, Focal, or Diffuse:

³³ (show all 7)

#	Description	HPO Frequency	HPO Source Accession
1	hyperhidrosis ³³	occasional (7.5%)	HP:0000975
2	nail dystrophy ³³	occasional (7.5%)	HP:0008404
3	onycholysis ³³	occasional (7.5%)	HP:0001806
4	palmoplantar keratoderma ³³		HP:0000982
5	epidermal acanthosis ³³		HP:0025092
6	hypergranulosis ³³		HP:0025114
7	streaks of hyperkeratosis along each finger onto the palm ³³		HP:0007501

Symptoms via clinical synopsis from OMIM:

⁵⁸

Skin Nails Hair Skin Histology:
acanthosis
orthohyperkeratosis
hyperkeratosis, marked
papillomatosis hypergranulosis
widening of intercellular spaces
more

Skin Nails Hair Skin:
longitudinal hyperkeratotic lesions along flexor surface of each finger, extending to palm
hyperkeratosis of pressure sites of palms and soles
hyperkeratotic plaques on anterolateral ankle area (in some patients)
hyperkeratotic plaques on anterior knee area (in some patients)
focal hyperkeratosis (in some patients)
more

Skin Nails Hair Nails:
nail dystrophy, mild (in some patients)
ridging (in some patients)
onycholysis, mild (in some patients)
whitish discoloration (in some patients)
yellowish discoloration (in some patients)

Head And Neck Mouth:
hyperkeratosis at corners of mouth (in some patients)

Skin Nails Hair Skin Electron Microscopy:
normal keratin intermediate filaments
separation of keratinocytes in spinous layer

Clinical features from OMIM:

148700

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Drugs & Therapeutics for Palmoplantar Keratoderma I, Striate, Focal, or Diffuse

Search Clinical Trials , NIH Clinical Center for Palmoplantar Keratoderma I, Striate, Focal, or Diffuse

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Genetic Tests for Palmoplantar Keratoderma I, Striate, Focal, or Diffuse

Genetic tests related to Palmoplantar Keratoderma I, Striate, Focal, or Diffuse:

#	Genetic test	Affiliating Genes
1	Keratosis Palmoplantaris Striata 1 ³⁰	DSG1
2	Keratosis Palmoplantaris Striata I, Ad ³⁰

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Anatomical Context for Palmoplantar Keratoderma I, Striate, Focal, or Diffuse

MalaCards organs/tissues related to Palmoplantar Keratoderma I, Striate, Focal, or Diffuse:

⁴²

Skin

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Publications for Palmoplantar Keratoderma I, Striate, Focal, or Diffuse

Articles related to Palmoplantar Keratoderma I, Striate, Focal, or Diffuse:

#	Title	Authors	Year
1	Novel mutations in DSG1 causing striate palmoplantar keratoderma. ( 19018793 )	Hershkovitz D...Sprecher E	2009
2	Mutations in the desmoglein 1 gene in five Pakistani families with striate palmoplantar keratoderma. ( 19157795 )	Dua-Awereh MB...Christiano AM	2009
3	Mutation in DSG1 causing autosomal dominant striate palmoplantar keratoderma. ( 19558595 )	Zamiri M...Munro CS	2009
4	Focal palmoplantar keratoderma caused by an autosomal dominant inherited mutation in the desmoglein 1 gene. ( 16484817 )	Milingou M...Borradori L	2006
5	Diffuse nonepidermolytic palmoplantar keratoderma caused by a recurrent nonsense mutation in DSG1. ( 15897387 )	Keren H...Sprecher E	2005
6	Spectrum of dominant mutations in the desmosomal cadherin desmoglein 1, causing the skin disease striate palmoplantar keratoderma. ( 11313759 )	Hunt DM...Buxton RS	2001
7	N-terminal deletion in a desmosomal cadherin causes the autosomal dominant skin disease striate palmoplantar keratoderma. ( 10332028 )	Rickman L...Buxton RS	1999
8	Localization of a locus for the striated form of palmoplantar keratoderma to chromosome 18q near the desmosomal cadherin gene cluster. ( 7544663 )	Hennies HC...Reis A	1995

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Genes for Palmoplantar Keratoderma I, Striate, Focal, or Diffuse

Genes related to Palmoplantar Keratoderma I, Striate, Focal, or Diffuse (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	DSG1	Desmoglein 1	Protein Coding	1350	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation ⁶⁰ Genetic Tests ³⁰	10332028 7544663 11313759 (more) 16484817 19018793 19558595 15897387 19157795

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Variations for Palmoplantar Keratoderma I, Striate, Focal, or Diffuse

ClinVar genetic disease variations for Palmoplantar Keratoderma I, Striate, Focal, or Diffuse:

⁶ (show all 16)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	DSG1	NM_001942.4(DSG1): c.85-1G> A	single nucleotide variant	Pathogenic		GRCh37	Chromosome 18, 28906836: 28906836
2	DSG1	NM_001942.4(DSG1): c.85-1G> A	single nucleotide variant	Pathogenic		GRCh38	Chromosome 18, 31326873: 31326873
3	DSG1	NM_001942.3(DSG1): c.1079dupC (p.Ile361Asnfs)	insertion	Pathogenic	rs398122949	GRCh37	Chromosome 18, 28916390: 28916390
4	DSG1	NM_001942.3(DSG1): c.1079dupC (p.Ile361Asnfs)	insertion	Pathogenic	rs398122949	GRCh38	Chromosome 18, 31336427: 31336427
5	DSG1	NM_001942.3(DSG1): c.1627del (p.Asn543Metfs)	deletion	Pathogenic	rs398122950	GRCh37	Chromosome 18, 28919928: 28919928
6	DSG1	NM_001942.3(DSG1): c.1627del (p.Asn543Metfs)	deletion	Pathogenic	rs398122950	GRCh38	Chromosome 18, 31339965: 31339965
7	DSG1	NM_001942.2(DSG1): c.76C> T (p.Arg26Ter)	single nucleotide variant	Likely pathogenic	rs397515639	GRCh37	Chromosome 18, 28906571: 28906571
8	DSG1	NM_001942.2(DSG1): c.76C> T (p.Arg26Ter)	single nucleotide variant	Likely pathogenic	rs397515639	GRCh38	Chromosome 18, 31326608: 31326608
9	DSG1	NM_001942.3(DSG1): c.121dupT (p.Trp41Leufs)	insertion	Pathogenic	rs398122951	GRCh37	Chromosome 18, 28906873: 28906873
10	DSG1	NM_001942.3(DSG1): c.121dupT (p.Trp41Leufs)	insertion	Pathogenic	rs398122951	GRCh38	Chromosome 18, 31326910: 31326910
11	DSG1	NM_001942.3(DSG1): c.601C> T (p.Gln201Ter)	single nucleotide variant	Pathogenic	rs397515640	GRCh37	Chromosome 18, 28911747: 28911747
12	DSG1	NM_001942.3(DSG1): c.601C> T (p.Gln201Ter)	single nucleotide variant	Pathogenic	rs397515640	GRCh38	Chromosome 18, 31331784: 31331784
13	DSG1	NM_001942.3(DSG1): c.430A> T (p.Arg144Ter)	single nucleotide variant	Pathogenic	rs397515641	GRCh37	Chromosome 18, 28909912: 28909912
14	DSG1	NM_001942.3(DSG1): c.430A> T (p.Arg144Ter)	single nucleotide variant	Pathogenic	rs397515641	GRCh38	Chromosome 18, 31329949: 31329949
15	DSG1	NM_001942.3(DSG1): c.133C> T (p.Arg45Ter)	single nucleotide variant	Likely pathogenic	rs1182196436	GRCh38	Chromosome 18, 31326922: 31326922
16	DSG1	NM_001942.3(DSG1): c.133C> T (p.Arg45Ter)	single nucleotide variant	Likely pathogenic	rs1182196436	GRCh37	Chromosome 18, 28906885: 28906885

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Expression for Palmoplantar Keratoderma I, Striate, Focal, or Diffuse

Search GEO for disease gene expression data for Palmoplantar Keratoderma I, Striate, Focal, or Diffuse.

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Pathways for Palmoplantar Keratoderma I, Striate, Focal, or Diffuse

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GO Terms for Palmoplantar Keratoderma I, Striate, Focal, or Diffuse

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⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Palmoplantar Keratoderma I, Striate, Focal, or Diffuse (PPKS1)

Aliases & Classifications for Palmoplantar Keratoderma I, Striate, Focal, or Diffuse

MalaCards integrated aliases for Palmoplantar Keratoderma I, Striate, Focal, or Diffuse:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Palmoplantar Keratoderma I, Striate, Focal, or Diffuse

Related Diseases for Palmoplantar Keratoderma I, Striate, Focal, or Diffuse

Diseases related to Palmoplantar Keratoderma I, Striate, Focal, or Diffuse via text searches within MalaCards or GeneCards Suite gene sharing:

Symptoms & Phenotypes for Palmoplantar Keratoderma I, Striate, Focal, or Diffuse

Human phenotypes related to Palmoplantar Keratoderma I, Striate, Focal, or Diffuse:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Palmoplantar Keratoderma I, Striate, Focal, or Diffuse

Genetic Tests for Palmoplantar Keratoderma I, Striate, Focal, or Diffuse

Genetic tests related to Palmoplantar Keratoderma I, Striate, Focal, or Diffuse:

Anatomical Context for Palmoplantar Keratoderma I, Striate, Focal, or Diffuse

MalaCards organs/tissues related to Palmoplantar Keratoderma I, Striate, Focal, or Diffuse:

Publications for Palmoplantar Keratoderma I, Striate, Focal, or Diffuse

Articles related to Palmoplantar Keratoderma I, Striate, Focal, or Diffuse:

Genes for Palmoplantar Keratoderma I, Striate, Focal, or Diffuse

Genes related to Palmoplantar Keratoderma I, Striate, Focal, or Diffuse (1 elite genes):

Variations for Palmoplantar Keratoderma I, Striate, Focal, or Diffuse

ClinVar genetic disease variations for Palmoplantar Keratoderma I, Striate, Focal, or Diffuse:

Expression for Palmoplantar Keratoderma I, Striate, Focal, or Diffuse

Pathways for Palmoplantar Keratoderma I, Striate, Focal, or Diffuse

GO Terms for Palmoplantar Keratoderma I, Striate, Focal, or Diffuse

Sources for Palmoplantar Keratoderma I, Striate, Focal, or Diffuse