Cytoscape Web
Click node...


3 OMIM references -
3 associated genes
4 signs/symptoms
PROTEIN INTERACTIONS: 2
COMMON SIGNS: 3
1 OMIM reference -
2 associated genes
10 signs/symptoms
Keratosis palmoplantaris striata
Epidermolysis bullosa simplex with mottled pigmentation

DSG1 KRT14
DSP KRT5
KRT1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
DSP
KRT1
(0.58)
(0.52)
KRT5
KRT5



Citations in the biomedical literature:


Keratosis palmoplantaris striata
DSG1 DSP KRT1
Epidermolysis bullosa simplex with mottled pigmentation
KRT14 KRT5



Keratosis palmoplantaris striata
Epidermolysis bullosa simplex with mottled pigmentation

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

Synonym(s):
- EBS-MP

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: unknown
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant

External references:
3 OMIM references -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C535959


COMMON
SIGNS
- Autosomal dominant inheritance
- Nails anomalies
- Palmoplantar hyperkeratosis / keratoderma


Keratosis palmoplantaris striata
Epidermolysis bullosa simplex with mottled pigmentation

Frequent
- Hair and scalp anomalies



Very frequent
- Abnormal pigmentary skin changes / skin pigmentation anomalies
- Follicular / erythematous / edematous papules / milium
- Irregular / patchy skin hypopigmentation
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Frequent
- Abnormal fingernails
- Bruisability
- Premature ageing