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1 OMIM reference -
1 associated gene
17 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
1 OMIM reference -
1 associated gene
36 signs/symptoms
Neuroferritinopathy
Megalencephaly-capillary malformation-polymicrogyria syndrome

FTL PIK3CA


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
FTL
(0.63)
PIK3CA



Citations in the biomedical literature:


Neuroferritinopathy
FTL
Megalencephaly-capillary malformation-polymicrogyria syndrome
PIK3CA



Neuroferritinopathy
Megalencephaly-capillary malformation-polymicrogyria syndrome

Synonym(s):
- Adult basal ganglia disease
- Ferritin-related neurodegeneration
- Hereditary ferritinopathy

Synonym(s):
- MCAP
- MCM
- MCMTC
- Macrocephaly - cutis marmorata telangiectatica congenita
- Macrocephaly-capillary malformation syndrome
- Megalencephaly - cutis marmorata telangiectatica congenita
- Megalencephaly-capillary malformation syndrome

Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare circulatory system disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare oncologic disease
- Rare skin disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adulthood
Average age of death: elderly
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: sporadic

External references:
1 OMIM reference -
1 MeSH reference: C548080
External references:
1 OMIM reference -
No MeSH references


COMMON
SIGNS
- Autosomal dominant inheritance


Neuroferritinopathy
Megalencephaly-capillary malformation-polymicrogyria syndrome

Very frequent
- Ataxia / incoordination / trouble of the equilibrium
- Chorea / athetosis / choreoathetosis / choreic syndrome
- Dystonia / torticollis / writer's cramp / blepharospasms
- Hypertonia / spasticity / rigidity / stiffness

Frequent
- Abnormal eye movements / oculomotor disorder
- Abnormal gait
- Execution movement disorder / dysmetria / bradykinesia / akinesia / apraxia
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Motor deficit / trouble

Occasional
- Alexia / agraphia / writing / reading troubles
- Constipation
- Elocution disorders / dysarthria / dysphonia
- Hypotension
- Obnubilation / coma / lethargia / desorientation
- Psychic / psychomotor regression / dementia / intellectual decline
- Tremor


Very frequent
- Arteriovenous malformations / vascular malformations (excluding port-wine stains)
- Asymmetry of the body / hemiatrophy / hemihyperthrophy
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Macrostomia / big mouth
- Polydactyly of toes
- Syndactyly of fingers / interdigital palm
- Syndactyly of toes
- Telangiectasiae of the skin
- Upper limb polydactyly / hexadactyly
- Visceral angiomatosis (excluding skin)

Frequent
- Broad cheeks / cherub-like / cherubin face
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Cutis marmorata / marbled skin / livedo
- Dilated cerebral ventricles without hydrocephaly
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Frontal bossing / prominent forehead
- High forehead
- Hydrocephaly
- Hyperextensible joints / articular hyperlaxity
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Macules
- Structural anomalies of the nervous system

Occasional
- Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect
- Anomalies of mouth, lip and philtrum
- Arnold-Chiari anomaly
- Cardiac rhythm disorder / arrhythmia
- Congenital cardiac anomaly / malformation / cardiopathy
- Deepset eyes / enophthalmos
- Depressed nasal bridge
- Neoplasms / tumors
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Transient cerebral ischemia / stroke