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 ⁵⁷

Keratosis Palmoplantaris Striata 1 ⁵³ ²⁹ ⁶ ⁷³

Keratosis Palmoplantaris Striata I ⁵⁷ ⁷⁵ ¹³

Ppks1 ⁵⁷ ⁵³ ⁷⁵

Sppk1 ⁵⁷ ⁵³ ⁷⁵

Keratoderma, Palmoplantar, Striate Form I ⁵⁷ ⁷⁵

Keratosis Palmoplantaris Striata I, Ad ⁵⁷ ²⁹

Striate Palmoplantar Keratoderma I ⁵⁷ ⁷⁵

Kpps1 ⁵⁷ ⁷⁵

Diffuse Palmoplantar Keratoderma with Painful Fissures ⁵⁹

Palmoplantar Keratoderma 1, Striate, Focal, or Diffuse ⁷⁵

Focal Palmoplantar Keratoderma with Joint Keratoses ⁵⁹

Keratoderma, Palmoplantar, Striate Form I; Kpps1 ⁵⁷

Striate Palmoplantar Keratoderma I; Sppk1 ⁵⁷

Keratoderma, Palmoplantar Striate Form 1 ⁵³

Keratosis Palmoplantaris Striata, Type 1 ⁴⁰

Striate Palmoplantar Keratoderma 1 ⁵³

Characteristics:

Orphanet epidemiological data:

⁵⁹

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:

⁵⁷

Inheritance:
autosomal dominant

Miscellaneous:
male predominance

HPO:

³²

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: ³⁴

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other congenital malformations of skin

Other specified congenital malformations of skin

Orphanet: ⁵⁹

Rare skin diseases

External Ids:

OMIM ⁵⁷ 148700

Orphanet ⁵⁹ ORPHA370002 ORPHA369999

ICD10 via Orphanet ³⁴ Q82.8

MedGen ⁴² C2931122 C1835661

MeSH ⁴⁴ D007645

SNOMED-CT via HPO ⁶⁹ 263681008 161857006 312230002 more

UMLS ⁷³ C2931122

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

OMIM : ⁵⁷ 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 palmoplantar keratoderma

UniProtKB/Swiss-Prot : ⁷⁵ 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	11.0

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

Symptoms via clinical synopsis from OMIM:

⁵⁷

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

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

³² (show all 6)

#	Description	HPO Frequency	HPO Source Accession
1	hyperhidrosis ³²	occasional (7.5%)	HP:0000975
2	palmoplantar keratoderma ³²		HP:0000982
3	onycholysis ³²	occasional (7.5%)	HP:0001806
4	streaks of hyperkeratosis along each finger onto the palm ³²		HP:0007501
5	nail dystrophy ³²	occasional (7.5%)	HP:0008404
6	epidermal acanthosis ³²		HP:0025092

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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:

⁴¹

Skin

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

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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 ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Genetic Tests ²⁹	10332028 11313759 16484817 (more) 19018793 19558595 7544663 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 15)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	DSG1	DSG1, IVS2AS, G-A, -1	single nucleotide variant	Pathogenic
2	DSG1	NM_001942.3(DSG1): c.1079dupC (p.Ile361Asnfs)	insertion	Pathogenic	rs398122949	GRCh37	Chromosome 18, 28916390: 28916390
3	DSG1	NM_001942.3(DSG1): c.1079dupC (p.Ile361Asnfs)	insertion	Pathogenic	rs398122949	GRCh38	Chromosome 18, 31336427: 31336427
4	DSG1	NM_001942.3(DSG1): c.1627delA (p.Asn543Metfs)	deletion	Pathogenic	rs398122950	GRCh37	Chromosome 18, 28919928: 28919928
5	DSG1	NM_001942.3(DSG1): c.1627delA (p.Asn543Metfs)	deletion	Pathogenic	rs398122950	GRCh38	Chromosome 18, 31339965: 31339965
6	DSG1	NM_001942.3(DSG1): c.76C> T (p.Arg26Ter)	single nucleotide variant	Likely pathogenic	rs397515639	GRCh37	Chromosome 18, 28906571: 28906571
7	DSG1	NM_001942.3(DSG1): c.76C> T (p.Arg26Ter)	single nucleotide variant	Likely pathogenic	rs397515639	GRCh38	Chromosome 18, 31326608: 31326608
8	DSG1	NM_001942.3(DSG1): c.121dupT (p.Trp41Leufs)	insertion	Pathogenic	rs398122951	GRCh37	Chromosome 18, 28906873: 28906873
9	DSG1	NM_001942.3(DSG1): c.121dupT (p.Trp41Leufs)	insertion	Pathogenic	rs398122951	GRCh38	Chromosome 18, 31326910: 31326910
10	DSG1	NM_001942.3(DSG1): c.601C> T (p.Gln201Ter)	single nucleotide variant	Pathogenic	rs397515640	GRCh37	Chromosome 18, 28911747: 28911747
11	DSG1	NM_001942.3(DSG1): c.601C> T (p.Gln201Ter)	single nucleotide variant	Pathogenic	rs397515640	GRCh38	Chromosome 18, 31331784: 31331784
12	DSG1	NM_001942.3(DSG1): c.430A> T (p.Arg144Ter)	single nucleotide variant	Pathogenic	rs397515641	GRCh37	Chromosome 18, 28909912: 28909912
13	DSG1	NM_001942.3(DSG1): c.430A> T (p.Arg144Ter)	single nucleotide variant	Pathogenic	rs397515641	GRCh38	Chromosome 18, 31329949: 31329949
14	DSG1	NM_001942.3(DSG1): c.133C> T (p.Arg45Ter)	single nucleotide variant	Likely pathogenic		GRCh38	Chromosome 18, 31326922: 31326922
15	DSG1	NM_001942.3(DSG1): c.133C> T (p.Arg45Ter)	single nucleotide variant	Likely pathogenic		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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