Cytoscape Web
Click node...


3 OMIM references -
3 associated genes
4 signs/symptoms
COMMON GENES: 1
PROTEIN INTERACTIONS: 3
1 OMIM reference -
2 associated genes
10 signs/symptoms
Keratosis palmoplantaris striata
Lethal acantholytic epidermolysis bullosa

DSG1 DSP
DSP JUP
KRT1


COMMON
GENES
DSP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
DSG1
DSP
KRT1
(0.93)
(0.89)
(0.78)
JUP
JUP
DSP



Citations in the biomedical literature:


Keratosis palmoplantaris striata
DSG1 DSP KRT1
Lethal acantholytic epidermolysis bullosa
JUP



Keratosis palmoplantaris striata
Lethal acantholytic epidermolysis bullosa

Synonym(s):
- Keratosis palmoplantaris striata et areata
- Keratosis palmoplantaris varians of Wachters
- Striate palmoplantar keratoderma

Synonym(s):
- LAEB

Classification (Orphanet):
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Rare genetic disease
- Rare skin disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal recessive

External references:
3 OMIM references -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C535493

Keratosis palmoplantaris striata
Lethal acantholytic epidermolysis bullosa

Very frequent
- Autosomal dominant inheritance
- Palmoplantar hyperkeratosis / keratoderma

Frequent
- Hair and scalp anomalies
- Nails anomalies



Very frequent
- Absent / small fingernails / anonychia of hands
- Alopecia
- Autosomal recessive inheritance
- Chronic skin infection / ulcerations / ulcers / cancrum
- Early death / lethality
- Enanthema / aphtosa / aphta / leukoplakia
- Premature eruption of teeth / natal teeth
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Occasional
- Cardiomyopathy / hypertrophic / dilated
- Epigastralgia / heartburn / gastric / duodenal ulcer / gastritis