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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
6 signs/symptoms
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Naegeli-Franceschetti-Jadassohn syndrome

CBL KRT14


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
CBL
Naegeli-Franceschetti-Jadassohn syndrome
KRT14



Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Naegeli-Franceschetti-Jadassohn syndrome

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

Synonym(s):
- NFJ syndrome
- Naegeli syndrome

Classification (Orphanet):
- Rare cardiac disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare oncologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- 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: any age
Type of inheritance: autosomal dominant

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

Naegeli-Franceschetti-Jadassohn syndrome

Very frequent
- Autosomal dominant inheritance
- Dysplastic / thick / grooved fingernails
- Dysplastic / thick / grooved toenails
- Enamel anomaly
- Irregular / in bands / reticular skin hyperpigmentation
- Palmoplantar hyperkeratosis / keratoderma



Noonan syndrome-like disorder with juvenile myelomonocytic leukemia

(no data available)