PPKS2
MCID: KRT017
MIFTS: 21

Keratosis Palmoplantaris Striata Ii (PPKS2)

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Keratosis Palmoplantaris Striata Ii

MalaCards integrated aliases for Keratosis Palmoplantaris Striata Ii:

Name: Keratosis Palmoplantaris Striata Ii 57 72 29 13 6 70
Striate Palmoplantar Keratoderma Ii 57 72
Ppks2 57 72
Kpps2 57 72
Sppk2 57 72
Keratoderma, Palmoplantar, Striate Form Ii; Kpps2 57
Keratoderma, Palmoplantar, Striate Form Ii 57
Striate Palmoplantar Keratoderma Ii; Sppk2 57
Keratoderma Palmoplantar Striate Form Ii 72
Keratosis Palmoplantaris Striata, Type 2 39
Keratoderma, Palmoplantar, Striate 2 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset in first to third decades of life
exacerbated by heavy manual labor
some mutation carriers with sedentary jobs show mild to no symptoms


HPO:

31
keratosis palmoplantaris striata ii:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 612908
MeSH 44 D007645
MedGen 41 C1852127
SNOMED-CT via HPO 68 263681008 706885006
UMLS 70 C1852127

Summaries for Keratosis Palmoplantaris Striata Ii

OMIM® : 57 PPKS2 is characterized by linear hyperkeratosis of the palms, which is particularly evident in affected individuals who perform manual labor. Hyperkeratosis of the soles primarily involves pressure points, and diffuse background palmoplantar thickening may also be present. (Armstrong et al., 1999; Whittock et al., 1999). For a discussion of genetic heterogeneity of the striate form of palmoplantar keratoderma, see PPKS1 (148700). (612908) (Updated 20-May-2021)

MalaCards based summary : Keratosis Palmoplantaris Striata Ii, is also known as striate palmoplantar keratoderma ii. An important gene associated with Keratosis Palmoplantaris Striata Ii is DSP (Desmoplakin). Related phenotypes are palmoplantar keratoderma and epidermal acanthosis

UniProtKB/Swiss-Prot : 72 Keratoderma, palmoplantar, striate 2: A dermatological disorder characterized by thickening of the skin on the palms (linear pattern) and the soles (island-like pattern) and flexor aspect of the fingers. Abnormalities of the nails, the teeth and the hair are rarely present.

Related Diseases for Keratosis Palmoplantaris Striata Ii

Symptoms & Phenotypes for Keratosis Palmoplantaris Striata Ii

Human phenotypes related to Keratosis Palmoplantaris Striata Ii:

31
# Description HPO Frequency HPO Source Accession
1 palmoplantar keratoderma 31 HP:0000982
2 epidermal acanthosis 31 HP:0025092

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skin Nails Hair Skin Histology:
hyperkeratosis
acanthosis
widening of keratinocyte intracellular spaces in spinous layer

Skin Nails Hair Skin:
dry flaking skin
palmar keratoderma in linear pattern along flexor aspect of fingers
pressure-point plantar keratoderma
diffuse background palmoplantar thickening (in some patients)
fissuring of skin (in some patients)

Skin Nails Hair Skin Electron Microscopy:
reduced number of desmosomes
reduced size of desmosomes
perinuclear condensation of keratin filaments
peripheral keratin network sparse to absent in some areas

Clinical features from OMIM®:

612908 (Updated 20-May-2021)

Drugs & Therapeutics for Keratosis Palmoplantaris Striata Ii

Search Clinical Trials , NIH Clinical Center for Keratosis Palmoplantaris Striata Ii

Genetic Tests for Keratosis Palmoplantaris Striata Ii

Genetic tests related to Keratosis Palmoplantaris Striata Ii:

# Genetic test Affiliating Genes
1 Keratosis Palmoplantaris Striata Ii 29 DSP

Anatomical Context for Keratosis Palmoplantaris Striata Ii

Publications for Keratosis Palmoplantaris Striata Ii

Articles related to Keratosis Palmoplantaris Striata Ii:

# Title Authors PMID Year
1
Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma. 57 6
9887343 1999
2
Wide spectrum of desmosomal mutations in Danish patients with arrhythmogenic right ventricular cardiomyopathy. 6
20864495 2010
3
Striate palmoplantar keratoderma arising from desmoplakin and desmoglein 1 mutations is associated with contrasting perturbations of desmosomes and the keratin filament network. 57
15149499 2004
4
Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency. 57
10594734 1999

Variations for Keratosis Palmoplantaris Striata Ii

ClinVar genetic disease variations for Keratosis Palmoplantaris Striata Ii:

6 (show all 18)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DSP NM_004415.4(DSP):c.699G>A (p.Trp233Ter) SNV Pathogenic 44946 rs397516955 GRCh37: 6:7562986-7562986
GRCh38: 6:7562753-7562753
2 DSP NM_004415.4(DSP):c.991C>T (p.Gln331Ter) SNV Pathogenic 16836 rs121912991 GRCh37: 6:7566661-7566661
GRCh38: 6:7566428-7566428
3 DSP NM_004415.4(DSP):c.939+1G>A SNV Pathogenic 178282 rs727504443 GRCh37: 6:7565754-7565754
GRCh38: 6:7565521-7565521
4 DSP NM_004415.4(DSP):c.88G>A (p.Val30Met) SNV Likely pathogenic 16846 rs121912998 GRCh37: 6:7542236-7542236
GRCh38: 6:7542003-7542003
5 DSP NM_004415.4(DSP):c.621G>A (p.Trp207Ter) SNV Likely pathogenic 930487 GRCh37: 6:7562908-7562908
GRCh38: 6:7562675-7562675
6 DSP NM_004415.4(DSP):c.928dup (p.Glu310fs) Duplication Likely pathogenic 199916 rs794728137 GRCh37: 6:7565740-7565741
GRCh38: 6:7565507-7565508
7 DSP NM_004415.4(DSP):c.1696G>A (p.Ala566Thr) SNV Uncertain significance 161226 rs148147581 GRCh37: 6:7570791-7570791
GRCh38: 6:7570558-7570558
8 DSP NM_004415.4(DSP):c.1352G>T (p.Arg451Leu) SNV Uncertain significance 931096 GRCh37: 6:7568755-7568755
GRCh38: 6:7568522-7568522
9 DSP NM_004415.4(DSP):c.5692G>A (p.Glu1898Lys) SNV Uncertain significance 931941 GRCh37: 6:7583187-7583187
GRCh38: 6:7582954-7582954
10 DSP NM_004415.4(DSP):c.1865T>G (p.Leu622Arg) SNV Uncertain significance 519064 rs1554107098 GRCh37: 6:7571779-7571779
GRCh38: 6:7571546-7571546
11 DSP NM_004415.4(DSP):c.6902T>C (p.Ile2301Thr) SNV Uncertain significance 263528 rs772381363 GRCh37: 6:7584397-7584397
GRCh38: 6:7584164-7584164
12 DSP NM_004415.4(DSP):c.5062G>A (p.Ala1688Thr) SNV Uncertain significance 451060 rs757753880 GRCh37: 6:7581485-7581485
GRCh38: 6:7581252-7581252
13 DSP NM_004415.4(DSP):c.6577G>A (p.Glu2193Lys) SNV Uncertain significance 44939 rs397516952 GRCh37: 6:7584072-7584072
GRCh38: 6:7583839-7583839
14 DSP NM_004415.4(DSP):c.2432T>C (p.Leu811Pro) SNV Uncertain significance 222575 rs869025391 GRCh37: 6:7575024-7575024
GRCh38: 6:7574791-7574791
15 DSP NM_004415.4(DSP):c.3346T>C (p.Tyr1116His) SNV Uncertain significance 691715 rs1581815394 GRCh37: 6:7579769-7579769
GRCh38: 6:7579536-7579536
16 DSP NM_004415.4(DSP):c.1067C>A (p.Thr356Lys) SNV Uncertain significance 199858 rs780626687 GRCh37: 6:7567609-7567609
GRCh38: 6:7567376-7567376
17 DSP NM_004415.4(DSP):c.137G>A (p.Gly46Asp) SNV Uncertain significance 451932 rs140403872 GRCh37: 6:7542285-7542285
GRCh38: 6:7542052-7542052
18 DSP NM_004415.4(DSP):c.5324G>T (p.Arg1775Ile) SNV Uncertain significance 161227 rs34738426 GRCh37: 6:7581747-7581747
GRCh38: 6:7581514-7581514

Expression for Keratosis Palmoplantaris Striata Ii

Search GEO for disease gene expression data for Keratosis Palmoplantaris Striata Ii.

Pathways for Keratosis Palmoplantaris Striata Ii

GO Terms for Keratosis Palmoplantaris Striata Ii

Sources for Keratosis Palmoplantaris Striata Ii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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