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Noonan syndrome-like disorder with juvenile myelomonocytic leukemia

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

PROTEIN INTERACTIONS: 1

CADASIL

1 OMIM reference -
1 associated gene
33 signs/symptoms

Noonan syndrome-like disorder with juvenile myelomonocytic leukemia

CADASIL

CBL

(UniProt - OMIM)

NOTCH3

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CBL	(0.63)	NOTCH3

Citations in the biomedical literature:

Noonan syndrome-like disorder with juvenile myelomonocytic leukemia		CADASIL
	Synonym(s): - CBL syndrome - Noonan syndrome-like disorder with JMML		Synonym(s): - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy - Hereditary multi-infarct dementia

	Classification (Orphanet): - Rare cardiac disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare oncologic disease		Classification (Orphanet): - Rare eye disease - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the circulatory system -

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: adulthood Average age of death: adult Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D046589

CADASIL
	Very frequent - Autosomal dominant inheritance - Facial pain / cephalalgia / migraine - Fever / chilling - Hemiplegia / diplegia / hemiparesia / limb palsy - Humour troubles / anxiety / depression / apathy / euphoria / irritability - Motor deficit / trouble - Obnubilation / coma / lethargia / desorientation - Psychic / behavioural troubles - Psychic / psychomotor regression / dementia / intellectual decline - Retinal vascular anomalies / retinal telangiectasia - Sensitive trouble / deficit - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Transient amaurosis / acute visual trouble Frequent - Abnormal gait - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - Cranial nerves palsy - EEG anomalies - Hypertonia / spasticity / rigidity / stiffness - Mild visual loss / impaired visual acuity - Transient cerebral ischemia / stroke - Troubles of memory / amnesia / hypermnesia Occasional - Arterial atheroma / precocious atherosclerosis / arteriosclerosis - Chronic arterial hypertension - Early death / lethality - Extrapyramidal syndrome - Hearing loss / hypoacusia / deafness - Hypoglycemia - Intracranial / cerebral / meningeal hemorrhage - Mucosal / cutaneous hemorrhage - Peripheral neuropathy - Repeat respiratory infections - Seizures / epilepsy / absences / spasms / status epilepticus - Varices / varicous veins / venous insufficiency
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
(no data available)