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 ⁵⁶

Keratosis Palmoplantaris Striata 1 ⁵² ²⁹ ⁶ ⁷¹

Keratosis Palmoplantaris Striata I ⁵⁶ ⁷³ ¹³

Ppks1 ⁵⁶ ⁵² ⁷³

Sppk1 ⁵⁶ ⁵² ⁷³

Keratoderma, Palmoplantar, Striate Form I ⁵⁶ ⁷³

Keratosis Palmoplantaris Striata I, Ad ⁵⁶ ²⁹

Striate Palmoplantar Keratoderma I ⁵⁶ ⁷³

Kpps1 ⁵⁶ ⁷³

Diffuse Palmoplantar Keratoderma with Painful Fissures ⁵⁸

Palmoplantar Keratoderma 1, Striate, Focal, or Diffuse ⁷³

Focal Palmoplantar Keratoderma with Joint Keratoses ⁵⁸

Keratoderma, Palmoplantar, Striate Form I; Kpps1 ⁵⁶

Striate Palmoplantar Keratoderma I; Sppk1 ⁵⁶

Keratoderma, Palmoplantar Striate Form 1 ⁵²

Keratosis Palmoplantaris Striata, Type 1 ³⁹

Striate Palmoplantar Keratoderma 1 ⁵²

Characteristics:

Orphanet epidemiological data:

⁵⁸

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:

⁵⁶

Inheritance:
autosomal dominant

Miscellaneous:
male predominance

HPO:

³¹

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: ³³

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other congenital malformations of skin

Other specified congenital malformations of skin

Orphanet: ⁵⁸

Rare skin diseases

External Ids:

OMIM ⁵⁶ 148700

MeSH ⁴³ D007645

ICD10 via Orphanet ³³ Q82.8

Orphanet ⁵⁸ ORPHA369999 ORPHA370002

MedGen ⁴¹ C1835661 C2931122

SNOMED-CT via HPO ⁶⁸ 161857006 263681008 312230002 more

UMLS ⁷¹ C2931122

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

OMIM : ⁵⁶ 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 : ⁷³ 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	11.3

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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:

³¹ (show all 7)

#	Description	HPO Frequency	HPO Source Accession
1	hyperhidrosis ³¹	occasional (7.5%)	HP:0000975
2	nail dystrophy ³¹	occasional (7.5%)	HP:0008404
3	onycholysis ³¹	occasional (7.5%)	HP:0001806
4	palmoplantar keratoderma ³¹		HP:0000982
5	epidermal acanthosis ³¹		HP:0025092
6	hypergranulosis ³¹		HP:0025114
7	streaks of hyperkeratosis along each finger onto the palm ³¹		HP:0007501

Symptoms via clinical synopsis from OMIM:

⁵⁶

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 ²⁹	DSG1
2	Keratosis Palmoplantaris Striata I, Ad ²⁹

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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:

⁴⁰

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	PMID	Year
1	Novel mutations in DSG1 causing striate palmoplantar keratoderma. ⁵⁶ ⁶	Hershkovitz D...Sprecher E	19018793	2009
2	Mutations in the desmoglein 1 gene in five Pakistani families with striate palmoplantar keratoderma. ⁵⁶ ⁶	Dua-Awereh MB...Christiano AM	19157795	2009
3	Focal palmoplantar keratoderma caused by an autosomal dominant inherited mutation in the desmoglein 1 gene. ⁵⁶ ⁶	Milingou M...Borradori L	16484817	2006
4	Diffuse nonepidermolytic palmoplantar keratoderma caused by a recurrent nonsense mutation in DSG1. ⁵⁶ ⁶	Keren H...Sprecher E	15897387	2005
5	Spectrum of dominant mutations in the desmosomal cadherin desmoglein 1, causing the skin disease striate palmoplantar keratoderma. ⁵⁶ ⁶	Hunt DM...Buxton RS	11313759	2001
6	N-terminal deletion in a desmosomal cadherin causes the autosomal dominant skin disease striate palmoplantar keratoderma. ⁵⁶ ⁶	Rickman L...Buxton RS	10332028	1999
7	Localization of a locus for the striated form of palmoplantar keratoderma to chromosome 18q near the desmosomal cadherin gene cluster. ⁵⁶ ⁶	Hennies HC...Reis A	7544663	1995
8	Disadhesion of epidermal keratinocytes: a histologic clue to palmoplantar keratodermas caused by DSG1 mutations. ⁵⁶	Bergman R...Sprecher E	20082890	2010
9	Mutation in DSG1 causing autosomal dominant striate palmoplantar keratoderma. ⁶	Zamiri M...Munro CS	19558595	2009
10	Striate palmoplantar keratoderma arising from desmoplakin and desmoglein 1 mutations is associated with contrasting perturbations of desmosomes and the keratin filament network. ⁵⁶	Wan H...Eady RA	15149499	2004

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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 ⁵⁶ Pathogenic ⁶ Causative germline mutation ⁵⁸ Genetic Tests ²⁹	15897387 11313759 19018793 (more) 19157795 10332028 16484817 7544663 19558595

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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 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	DSG1	NM_001942.4(DSG1):c.85-1G>A	SNV	Pathogenic	16819	rs1568039793	18:28906836-28906836	18:31326873-31326873
2	DSG1	NM_001942.4(DSG1):c.1079dup (p.Ile361fs)	duplication	Pathogenic	88655	rs398122949	18:28916389-28916390	18:31336426-31336427
3	DSG1	NM_001942.4(DSG1):c.1628del (p.Asn543fs)	deletion	Pathogenic	88656	rs398122950	18:28919928-28919928	18:31339965-31339965
4	DSG1	NM_001942.4(DSG1):c.121dup (p.Trp41fs)	duplication	Pathogenic	88658	rs398122951	18:28906872-28906873	18:31326909-31326910
5	DSG1	NM_001942.4(DSG1):c.601C>T (p.Gln201Ter)	SNV	Pathogenic	88659	rs397515640	18:28911747-28911747	18:31331784-31331784
6	DSG1	NM_001942.4(DSG1):c.430A>T (p.Arg144Ter)	SNV	Pathogenic	88660	rs397515641	18:28909912-28909912	18:31329949-31329949
7	DSG1	NM_001942.4(DSG1):c.133C>T (p.Arg45Ter)	SNV	Likely pathogenic	495107	rs1182196436	18:28906885-28906885	18:31326922-31326922
8	DSG1	NM_001942.4(DSG1):c.76C>T (p.Arg26Ter)	SNV	Likely pathogenic	88657	rs397515639	18:28906571-28906571	18:31326608-31326608

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

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⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ 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