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1 OMIM reference -
2 associated genes
10 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Epidermolysis bullosa simplex with mottled pigmentation
Macrocephaly-autism syndrome

KRT14 PTEN
KRT5


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
KRT14
(0.63)
PTEN



Citations in the biomedical literature:


Epidermolysis bullosa simplex with mottled pigmentation
KRT14 KRT5
Macrocephaly-autism syndrome
PTEN



Epidermolysis bullosa simplex with mottled pigmentation
Macrocephaly-autism syndrome

Synonym(s):
- EBS-MP

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
(no data available)

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: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant

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

Epidermolysis bullosa simplex with mottled pigmentation

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

Frequent
- Abnormal fingernails
- Bruisability
- Nails anomalies
- Palmoplantar hyperkeratosis / keratoderma
- Premature ageing



Macrocephaly-autism syndrome

(no data available)