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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 associated gene
7 signs/symptoms
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Bullous diffuse cutaneous mastocytosis

CBL KIT


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CBL
(0.75)
KIT



Citations in the biomedical literature:


Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
CBL
Bullous diffuse cutaneous mastocytosis
KIT



Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Bullous diffuse cutaneous mastocytosis

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

Synonym(s):
- Bullous DCM

Classification (Orphanet):
- Rare cardiac disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare oncologic disease
Classification (Orphanet):
- Rare allergic disease
- Rare hematologic disease
- Rare oncologic 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: -
Type of inheritance: sporadic

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

Bullous diffuse cutaneous mastocytosis

Very frequent
- Abnormal pigmentary skin changes / skin pigmentation anomalies
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Mastocytosis
- Pruritus / itching
- Urticaria
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Occasional
- Collapse / sudden death / cardiac arrest / cardiorespiratory arrest


Noonan syndrome-like disorder with juvenile myelomonocytic leukemia

(no data available)