ODCs

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1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
13 signs/symptoms

Noonan syndrome-like disorder with juvenile myelomonocytic leukemia

Gaucher disease - ophthalmoplegia - cardiovascular calcification


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CBL	(0.63)	GBA

Citations in the biomedical literature:

Noonan syndrome-like disorder with juvenile myelomonocytic leukemia		Gaucher disease - ophthalmoplegia - cardiovascular calcification
	Synonym(s): - CBL syndrome - Noonan syndrome-like disorder with JMML		Synonym(s): - Cardiovascular Gaucher disease - Gaucher disease type 3C - Gaucher-like disease

	Classification (Orphanet): - Rare cardiac disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare oncologic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare eye disease - Rare genetic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: no data available Type of inheritance: autosomal recessive

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

Gaucher disease - ophthalmoplegia - cardiovascular calcification
	Very frequent - Abnormal eye movements / oculomotor disorder - Aortic arches anomalies - Aortic valve atresia / stenosis / narrowing / supra-aortic / supra-valvular stenosis - Autosomal recessive inheritance - Cardiac valvulopathy - Mitral valve atresia / stenosis / narrowing - Ophthalmoplegia / ophthalmoparesis / oculomotor palsy - Splenomegaly Frequent - Hearing loss / hypoacusia / deafness - Hydrocephaly - Hypertonia / spasticity / rigidity / stiffness - Seizures / epilepsy / absences / spasms / status epilepticus Occasional - Heart / cardiac failure
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
(no data available)