ODCs

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1 OMIM reference -
1 associated gene
33 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 3

Infantile myofibromatosis

2 OMIM references -
2 associated genes
31 signs/symptoms

CADASIL

Infantile myofibromatosis

NOTCH3	(UniProt - OMIM)		NOTCH3	(UniProt - OMIM)
			PDGFRB	(UniProt - OMIM)


COMMON GENES	NOTCH3

Citations in the biomedical literature:

CADASIL		Infantile myofibromatosis
	Synonym(s): - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy - Hereditary multi-infarct dementia		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare eye disease - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare genetic disease - Rare neurologic disease - Rare oncologic disease - Rare skin disease

	Classification (ICD10): - Diseases of the circulatory system -		Classification (ICD10): - Neoplasms -

	Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: adulthood Average age of death: adult Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: D046589		External references: 2 OMIM references - No MeSH references


COMMON SIGNS	- Autosomal dominant inheritance - Early death / lethality - Hemiplegia / diplegia / hemiparesia / limb palsy

CADASIL		Infantile myofibromatosis
	Very frequent - Facial pain / cephalalgia / migraine - Fever / chilling - 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 - 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		Very frequent - Bone cyst - Bone / osseous neoplasm / tumor / carcinoma / cancer - Fibromatosis / bone fibroma - Metaphyseal anomaly - Muscle anomalies - Soft tissue sarcoma / cancer / tumor / liposarcoma / myosarcoma - Subcutaneous nodules / lipomas / tumefaction / swelling Frequent - Anomalies of chest / thorax / trunk - Face / facial anomalies - Intestinal / colonic anomaly - Lung / bronchopulmonary neoplasm / tumor / carcinoma / cancer - Periarticular tissue anomaly / extraarticular calcifications - Skull / cranial anomalies - Thickened / hypertrophic / fibromatous gingivae Occasional - Anomalies of eyes and vision - Anomalies of spine, vertebrae and pelvis - Autosomal recessive inheritance - Benign tumor of the brain / nervous system - Chronic skin infection / ulcerations / ulcers / cancrum - Hypercalcemia - Intestinal obstruction / ileus - Irregular / in bands / reticular skin hyperpigmentation - Osteolysis / osteoclasia / bone destruction / erosions - Pancreatic / pancreas neoplasm / tumor / carcinoma / cancer - Renal / kidney anomalies - Restricted joint mobility / joint stiffness / ankylosis - Sacro-coccyx / sacrum anomaly - Tracheo-esophageal fistula / esophageal atresia / stenosis