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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 4
1 OMIM reference -
4 associated genes
8 signs/symptoms
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Epidermolytic palmoplantar keratoderma

CBL KRT1
KRT16
KRT6C
KRT9


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CBL
CBL
CBL
CBL
(0.63)
(0.63)
(0.63)
(0.63)
KRT1
KRT16
KRT6C
KRT9



Citations in the biomedical literature:


Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
CBL
Epidermolytic palmoplantar keratoderma
KRT1 KRT16 KRT6C KRT9



Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Epidermolytic palmoplantar keratoderma

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

Synonym(s):
- Diffuse erythrodermic palmoplantar keratoderma, Voerner type
- Diffuse erythrodermic palmoplantar keratoderma, Vörner type
- EPPK
- Epidermolytic palmoplantar keratoderma of Voerner
- Epidermolytic palmoplantar keratoderma of Vörner

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:
(no data available)

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

Epidermolytic palmoplantar keratoderma

Very frequent
- Autosomal dominant inheritance
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Palmoplantar hyperkeratosis / keratoderma
- Warts / papillomas

Frequent
- Abnormal fingernails
- Eczema
- Hyperhidrosis / increased sweating



Noonan syndrome-like disorder with juvenile myelomonocytic leukemia

(no data available)