MCID: PLM160
MIFTS: 23

Palmoplantar Keratoderma I, Striate, Focal, or Diffuse

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 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:

Orphanet: 59  
Rare skin diseases


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.

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

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

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 Keratosis Palmoplantaris Striata 1 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:

41
Skin

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

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

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

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70 SNOMED-CT via Orphanet
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73 UMLS
74 UMLS via Orphanet
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