PPKS1
MCID: PLM160
MIFTS: 27

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

Categories: Genetic diseases, Rare diseases, Skin diseases

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 29 6
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
Keratosis Palmoplantaris Striata 1 52 71
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:

Orphanet: 58  
Rare skin diseases


External Ids:

OMIM 56 148700
MeSH 43 D007645
ICD10 via Orphanet 33 Q82.8
UMLS 71 C2931122

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 i, 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.

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

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

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

Search Clinical Trials , NIH Clinical Center 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:

# Genetic test Affiliating Genes
1 Palmoplantar Keratoderma I, Striate, Focal, or Diffuse 29 DSG1
2 Keratosis Palmoplantaris Striata I, Ad 29

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

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

40
Skin

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

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

(show all 11)
# Title Authors PMID Year
1
Mutations in the desmoglein 1 gene in five Pakistani families with striate palmoplantar keratoderma. 6 56
19157795 2009
2
Novel mutations in DSG1 causing striate palmoplantar keratoderma. 6 56
19018793 2009
3
Focal palmoplantar keratoderma caused by an autosomal dominant inherited mutation in the desmoglein 1 gene. 6 56
16484817 2006
4
Diffuse nonepidermolytic palmoplantar keratoderma caused by a recurrent nonsense mutation in DSG1. 56 6
15897387 2005
5
Spectrum of dominant mutations in the desmosomal cadherin desmoglein 1, causing the skin disease striate palmoplantar keratoderma. 6 56
11313759 2001
6
N-terminal deletion in a desmosomal cadherin causes the autosomal dominant skin disease striate palmoplantar keratoderma. 56 6
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
7544663 1995
8
Disadhesion of epidermal keratinocytes: a histologic clue to palmoplantar keratodermas caused by DSG1 mutations. 56
20082890 2010
9
Mutation in DSG1 causing autosomal dominant striate palmoplantar keratoderma. 6
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
15149499 2004
11
A DSG1 Frameshift Variant in a Rottweiler Dog with Footpad Hyperkeratosis. 61
32344723 2020

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>ASNV 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

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

Search GEO for disease gene expression data 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

3 CDC
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68 SNOMED-CT via HPO
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71 UMLS
72 UMLS via Orphanet
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