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1 OMIM reference -
2 associated genes
10 signs/symptoms
PROTEIN INTERACTIONS: 2
1 OMIM reference -
5 associated genes
No signs/symptoms info
Epidermolysis bullosa simplex with mottled pigmentation
Juvenile myelomonocytic leukemia

KRT14 CBL
KRT5 KRAS
NF1
NRAS
PTPN11


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
KRT14
KRT5
(0.63)
(0.63)
CBL
CBL



Citations in the biomedical literature:


Epidermolysis bullosa simplex with mottled pigmentation
KRT14 KRT5
Juvenile myelomonocytic leukemia
CBL KRAS NF1 NRAS PTPN11



Epidermolysis bullosa simplex with mottled pigmentation
Juvenile myelomonocytic leukemia

Synonym(s):
- EBS-MP

Synonym(s):
- Juvenile chronic myelomonocytic leukemia

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

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

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)

External references:
1 OMIM reference -
1 MeSH reference: C535959
External references:
1 OMIM reference -
1 MeSH reference: D054429

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



Juvenile myelomonocytic leukemia

(no data available)