ODCs

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

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
15 signs/symptoms

Noonan syndrome-like disorder with juvenile myelomonocytic leukemia

Gaucher disease type 2


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 type 2
	Synonym(s): - CBL syndrome - Noonan syndrome-like disorder with JMML		Synonym(s): - Acute neuronopathic Gaucher disease - Infantile cerebral Gaucher 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 - Rare neurologic disease - Rare respiratory 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: neonatal/infancy Average age of death: before age 5 Type of inheritance: autosomal recessive

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

Gaucher disease type 2
	Very frequent - Abnormal eye movements / oculomotor disorder - Early death / lethality - Hepatomegaly / liver enlargement (excluding storage disease) - Hypertonia / spasticity / rigidity / stiffness - Ophthalmoplegia / ophthalmoparesis / oculomotor palsy - Respiratory rhythm disorder - Splenomegaly - Strabismus / squint - Weight loss / loss of appetite / break in weight curve / general health alteration Frequent - Contractures / cramps / trismus / tetania / claudication / opisthotonos - Cough - Repeat respiratory infections - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Seizures / epilepsy / absences / spasms / status epilepticus Occasional - Collapse / sudden death / cardiac arrest / cardiorespiratory arrest
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
(no data available)