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2 OMIM references -
2 associated genes
31 signs/symptoms
COMMON GENES: 1
COMMON SIGNS: 3
1 OMIM reference -
1 associated gene
33 signs/symptoms
Infantile myofibromatosis
CADASIL

NOTCH3 NOTCH3
PDGFRB


COMMON
GENES
NOTCH3



Citations in the biomedical literature:


Infantile myofibromatosis
NOTCH3 PDGFRB
CADASIL



Infantile myofibromatosis
CADASIL

Synonym(s):
(no synonyms)

Synonym(s):
- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
- Hereditary multi-infarct dementia

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

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

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


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


Infantile myofibromatosis
CADASIL

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


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