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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
8 signs/symptoms
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Superficial epidermolytic ichthyosis

CBL KRT2


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
CBL
Superficial epidermolytic ichthyosis
KRT2



Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Superficial epidermolytic ichthyosis

Synonym(s):
- CBL syndrome
- Noonan syndrome-like disorder with JMML

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

Classification (Orphanet):
- Rare cardiac disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare oncologic 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:
(no data available)
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

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D053560

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


Noonan syndrome-like disorder with juvenile myelomonocytic leukemia

(no data available)