MCID: KRT017
MIFTS: 18

Keratosis Palmoplantaris Striata Ii

Categories: Genetic diseases, Skin diseases, Rare diseases

Aliases & Classifications for Keratosis Palmoplantaris Striata Ii

MalaCards integrated aliases for Keratosis Palmoplantaris Striata Ii:

Name: Keratosis Palmoplantaris Striata Ii 57 75 29 13 6 73
Striate Palmoplantar Keratoderma Ii 57 75
Ppks2 57 75
Kpps2 57 75
Sppk2 57 75
Keratoderma, Palmoplantar, Striate Form Ii; Kpps2 57
Keratoderma, Palmoplantar, Striate Form Ii 57
Striate Palmoplantar Keratoderma Ii; Sppk2 57
Keratoderma Palmoplantar Striate Form Ii 75
Keratosis Palmoplantaris Striata, Type 2 40
Keratoderma, Palmoplantar, Striate 2 75

Characteristics:

OMIM:

57
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:

32
keratosis palmoplantaris striata ii:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 612908
MedGen 42 C1852127
MeSH 44 D007645
SNOMED-CT via HPO 69 263681008 706885006
UMLS 73 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)

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 phenotype is palmoplantar keratoderma.

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
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 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 Histology:
acanthosis
hyperkeratosis
widening of keratinocyte intracellular spaces in spinous layer


Clinical features from OMIM:

612908

Human phenotypes related to Keratosis Palmoplantaris Striata Ii:

32
# Description HPO Frequency HPO Source Accession
1 palmoplantar keratoderma 32 HP:0000982

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

MalaCards organs/tissues related to Keratosis Palmoplantaris Striata Ii:

41
Skin

Publications for Keratosis Palmoplantaris Striata Ii

Variations for Keratosis Palmoplantaris Striata Ii

ClinVar genetic disease variations for Keratosis Palmoplantaris Striata Ii:

6
# 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_004415.3(DSP): c.1696G> A (p.Ala566Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs148147581 GRCh37 Chromosome 6, 7570791: 7570791
4 DSP NM_004415.3(DSP): c.1696G> A (p.Ala566Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs148147581 GRCh38 Chromosome 6, 7570558: 7570558
5 DSP NM_004415.3(DSP): c.928dup (p.Glu310Glyfs) duplication Pathogenic rs794728137 GRCh37 Chromosome 6, 7565742: 7565742
6 DSP NM_004415.3(DSP): c.928dup (p.Glu310Glyfs) duplication Pathogenic rs794728137 GRCh38 Chromosome 6, 7565509: 7565509

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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