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1 OMIM reference -
1 associated gene
8 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
5 associated genes
No signs/symptoms info
Superficial epidermolytic ichthyosis
Juvenile myelomonocytic leukemia

KRT2 CBL
KRAS
NF1
NRAS
PTPN11


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
KRT2
(0.63)
CBL



Citations in the biomedical literature:


Superficial epidermolytic ichthyosis
KRT2
Juvenile myelomonocytic leukemia
CBL KRAS NF1 NRAS PTPN11



Superficial epidermolytic ichthyosis
Juvenile myelomonocytic leukemia

Synonym(s):
- Ichthyosis bullosa of Siemens
- SEI

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: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)

External references:
1 OMIM reference -
1 MeSH reference: D053560
External references:
1 OMIM reference -
1 MeSH reference: D054429

Superficial epidermolytic ichthyosis

Very frequent
- Autosomal dominant inheritance
- Cutaneous edema
- Ichthyosis / ichthyosiform dermatitis
- Palmoplantar hyperkeratosis / keratoderma
- Positive Nikolski's sign / achantolysis
- Thin skin
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Occasional
- Erythema / erythematous lesions / erythroderma / polymorphous erythema


Juvenile myelomonocytic leukemia

(no data available)