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

KRT14 DSG1
KRT5 DSP
KRT1


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


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



Epidermolysis bullosa simplex with mottled pigmentation
Keratosis palmoplantaris striata

Synonym(s):
- EBS-MP

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

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: unknown
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant

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


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


Epidermolysis bullosa simplex with mottled pigmentation
Keratosis palmoplantaris striata

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



Frequent
- Hair and scalp anomalies