SPPK2
MCID: KRT017
MIFTS: 20

Keratosis Palmoplantaris Striata Ii (SPPK2)

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 58 76 30 13 6 74
Striate Palmoplantar Keratoderma Ii 58 76
Ppks2 58 76
Kpps2 58 76
Sppk2 58 76
Keratoderma, Palmoplantar, Striate Form Ii; Kpps2 58
Keratoderma, Palmoplantar, Striate Form Ii 58
Striate Palmoplantar Keratoderma Ii; Sppk2 58
Keratoderma Palmoplantar Striate Form Ii 76
Keratosis Palmoplantaris Striata, Type 2 41
Keratoderma, Palmoplantar, Striate 2 76

Characteristics:

OMIM:

58
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:

33
keratosis palmoplantaris striata ii:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 612908
MeSH 45 D007645
MedGen 43 C1852127
SNOMED-CT via HPO 70 263681008 706885006
UMLS 74 C1852127

Summaries for Keratosis Palmoplantaris Striata Ii

OMIM : 58 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)

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). Affiliated tissues include skin, and related phenotypes are palmoplantar keratoderma and epidermal acanthosis

UniProtKB/Swiss-Prot : 76 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

Diseases in the Keratosis Palmoplantaris Striata Iii family:

Keratosis Palmoplantaris Striata Ii

Symptoms & Phenotypes for Keratosis Palmoplantaris Striata Ii

Human phenotypes related to Keratosis Palmoplantaris Striata Ii:

33
# Description HPO Frequency HPO Source Accession
1 palmoplantar keratoderma 33 HP:0000982
2 epidermal acanthosis 33 HP:0025092

Symptoms via clinical synopsis from OMIM:

58
Skin Nails Hair Skin Histology:
hyperkeratosis
acanthosis
widening of keratinocyte intracellular spaces in spinous layer

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

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)

Clinical features from OMIM:

612908

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 30 DSP

Anatomical Context for Keratosis Palmoplantaris Striata Ii

MalaCards organs/tissues related to Keratosis Palmoplantaris Striata Ii:

42
Skin

Publications for Keratosis Palmoplantaris Striata Ii

Articles related to Keratosis Palmoplantaris Striata Ii:

# Title Authors Year
1
Wide spectrum of desmosomal mutations in Danish patients with arrhythmogenic right ventricular cardiomyopathy. ( 20864495 )
2010
2
Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency. ( 10594734 )
1999
3
Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma. ( 9887343 )
1999

Variations for Keratosis Palmoplantaris Striata Ii

ClinVar genetic disease variations for Keratosis Palmoplantaris Striata Ii:

6 (show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 DSP NM_004415.3(DSP): c.991C> T (p.Gln331Ter) single nucleotide variant Pathogenic rs121912991 GRCh37 Chromosome 6, 7566661: 7566661
2 DSP NM_004415.3(DSP): c.991C> T (p.Gln331Ter) single nucleotide variant Pathogenic rs121912991 GRCh38 Chromosome 6, 7566428: 7566428
3 DSP NM_004415.2(DSP): c.699G> A (p.Trp233Ter) single nucleotide variant Pathogenic/Likely pathogenic rs397516955 GRCh37 Chromosome 6, 7562986: 7562986
4 DSP NM_004415.2(DSP): c.699G> A (p.Trp233Ter) single nucleotide variant Pathogenic/Likely pathogenic rs397516955 GRCh38 Chromosome 6, 7562753: 7562753
5 DSP NM_004415.3(DSP): c.1696G> A (p.Ala566Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs148147581 GRCh37 Chromosome 6, 7570791: 7570791
6 DSP NM_004415.3(DSP): c.1696G> A (p.Ala566Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs148147581 GRCh38 Chromosome 6, 7570558: 7570558
7 DSP NM_004415.2(DSP): c.5324G> T (p.Arg1775Ile) single nucleotide variant Uncertain significance rs34738426 GRCh37 Chromosome 6, 7581747: 7581747
8 DSP NM_004415.2(DSP): c.5324G> T (p.Arg1775Ile) single nucleotide variant Uncertain significance rs34738426 GRCh38 Chromosome 6, 7581514: 7581514
9 DSP NM_004415.2(DSP): c.939+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs727504443 GRCh38 Chromosome 6, 7565521: 7565521
10 DSP NM_004415.2(DSP): c.939+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs727504443 GRCh37 Chromosome 6, 7565754: 7565754
11 DSP NM_001008844.2(DSP): c.928dup (p.Glu310Glyfs) duplication Pathogenic rs794728137 GRCh37 Chromosome 6, 7565742: 7565742
12 DSP NM_001008844.2(DSP): c.928dup (p.Glu310Glyfs) duplication Pathogenic rs794728137 GRCh38 Chromosome 6, 7565509: 7565509
13 DSP NM_004415.3(DSP): c.2432T> C (p.Leu811Pro) single nucleotide variant Uncertain significance rs869025391 GRCh37 Chromosome 6, 7575024: 7575024
14 DSP NM_004415.3(DSP): c.2432T> C (p.Leu811Pro) single nucleotide variant Uncertain significance rs869025391 GRCh38 Chromosome 6, 7574791: 7574791
15 DSP NM_004415.3(DSP): c.6902T> C (p.Ile2301Thr) single nucleotide variant Uncertain significance rs772381363 GRCh37 Chromosome 6, 7584397: 7584397
16 DSP NM_004415.3(DSP): c.6902T> C (p.Ile2301Thr) single nucleotide variant Uncertain significance rs772381363 GRCh38 Chromosome 6, 7584164: 7584164
17 DSP NM_004415.2(DSP): c.137G> A (p.Gly46Asp) single nucleotide variant Uncertain significance rs140403872 GRCh37 Chromosome 6, 7542285: 7542285
18 DSP NM_004415.2(DSP): c.137G> A (p.Gly46Asp) single nucleotide variant Uncertain significance rs140403872 GRCh38 Chromosome 6, 7542052: 7542052
19 DSP NM_004415.3(DSP): c.1865T> G (p.Leu622Arg) single nucleotide variant Uncertain significance rs1554107098 GRCh38 Chromosome 6, 7571546: 7571546
20 DSP NM_004415.3(DSP): c.1865T> G (p.Leu622Arg) single nucleotide variant Uncertain significance rs1554107098 GRCh37 Chromosome 6, 7571779: 7571779

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

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63 PubMed
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70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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