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Hemimegalencephaly
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Familial multiple nevi flammei
1 OMIM reference -
1 associated gene
25 signs/symptoms
Hemimegalencephaly
Familial multiple nevi flammei

AKT3
(UniProt - OMIM)
 GNAQ
(UniProt - OMIM)
PIK3CA
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
PIK3CA
(0.73)
GNAQ


Citations in the biomedical literature:


Hemimegalencephaly
AKT3 PIK3CA
Familial multiple nevi flammei
GNAQ



Hemimegalencephaly
Familial multiple nevi flammei

Synonym(s):
- Unilateral megalencephaly
Synonym(s):
- Familial multiple port-wine stains
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- 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:
(no data available)
External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
No MeSH references
Familial multiple nevi flammei

Very frequent
- Arteriovenous malformations / vascular malformations (excluding port-wine stains)
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Irregular / in bands / reticular skin hyperpigmentation
- Macules

Frequent
- Autosomal dominant inheritance
- Follicular / erythematous / edematous papules / milium

Occasional
- Anomalies of bones / skeletal anomalies
- Anomalies of spine, vertebrae and pelvis
- Cardiac rhythm disorder / arrhythmia
- Chronic skin infection / ulcerations / ulcers / cancrum
- Cranial nerve anomalies
- Cutaneous edema
- Glaucoma
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Intracranial / cerebral calcifications
- Intracranial / cerebral / meningeal hemorrhage
- Lower limb asymmetry / hemiatrophy / hemihypertrophy
- Lower limb segmental anomalies
- Pulmonary thromboembolism
- Scoliosis
- Seizures / epilepsy / absences / spasms / status epilepticus
- Upper limb segmental anomalies
- Varices / varicous veins / venous insufficiency
- Venous thrombosis / phlebitis / thrombophlebitis


Hemimegalencephaly

(no data available)