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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
14 signs/symptoms
Isolated focal cortical dysplasia type IIb
Parkes Weber syndrome

TSC1 RASA1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TSC1
(0.63)
RASA1



Citations in the biomedical literature:


Isolated focal cortical dysplasia type IIb
TSC1
Parkes Weber syndrome
RASA1



Isolated focal cortical dysplasia type IIb
Parkes Weber syndrome

Synonym(s):
- FCD type IIb

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare bone disease
- Rare circulatory system disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare skin disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: -
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant

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

Parkes Weber syndrome

Very frequent
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Global upper and lower limbs anomalies
- Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding
- Lower limb asymmetry / hemiatrophy / hemihypertrophy
- Muscle hypertrophy
- Peripheral arteriovenous fistula
- Telangiectasiae of the skin
- Upper limb asymmetry / hemiatrophy / hemihypertrophy

Frequent
- Varices / varicous veins / venous insufficiency

Occasional
- Facial pain / cephalalgia / migraine
- Glaucoma
- Heart / cardiac failure
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Vascular anomalies of skin / mucosae


Isolated focal cortical dysplasia type IIb

(no data available)