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3 OMIM references -
5 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
25 signs/symptoms
Malignant migrating partial seizures of infancy
Familial multiple nevi flammei

KCNT1 GNAQ
PLCB1
SCN1A
SLC25A22
TBC1D24


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PLCB1
(0.84)
GNAQ



Citations in the biomedical literature:


Malignant migrating partial seizures of infancy
KCNT1 PLCB1 SCN1A SLC25A22 TBC1D24
Familial multiple nevi flammei
GNAQ



Malignant migrating partial seizures of infancy
Familial multiple nevi flammei

Synonym(s):
- MMPEI
- MMPSI
- MPEI
- MPSI
- Malignant migrating partial epilepsy of infancy
- Migrating partial epilepsy of infancy
- Migrating partial seizures of infancy

Synonym(s):
- Familial multiple port-wine stains

Classification (Orphanet):
- 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):
(no data available)
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

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

External references:
3 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


Malignant migrating partial seizures of infancy

(no data available)