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Neuroferritinopathy
1 OMIM reference -
1 associated gene
17 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
Cowden syndrome
6 OMIM references -
7 associated genes
54 signs/symptoms
Neuroferritinopathy
Cowden syndrome

FTL
(UniProt - OMIM)
 AKT1
(UniProt - OMIM)
KLLN
(UniProt - OMIM)
PIK3CA
(UniProt - OMIM)
PTEN
(UniProt - OMIM)
SDHB
(UniProt - OMIM)
SDHC
(UniProt - OMIM)
SDHD
(UniProt - OMIM)

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


Citations in the biomedical literature:


Neuroferritinopathy
FTL
Cowden syndrome
AKT1 KLLN PIK3CA PTEN SDHB SDHC
SDHD



Neuroferritinopathy
Cowden syndrome

Synonym(s):
- Adult basal ganglia disease
- Ferritin-related neurodegeneration
- Hereditary ferritinopathy
Synonym(s):
- Cowden disease
- Multiple hamartoma syndrome
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare gastroenterologic disease
- 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: 1-9 / 1 000 000
Average age onset: variable
Average age of death: any age
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
1 MeSH reference: C548080
External references:
6 OMIM references -
1 MeSH reference: D006223
COMMON
SIGNS 		- Autosomal dominant inheritance

Neuroferritinopathy
Cowden 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
- Breast neoplasm / tumor / carcinoma / cancer
- Follicular / conjunctival hamartomas
- Follicular / erythematous / edematous papules / milium
- Goiter
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Macules
- Palmoplantar hyperkeratosis / keratoderma
- Polyposis of the bowel / colon / intestine
- Skin / cutaneous neoplasm / tumor / carcinoma / cancer (excluding melanoma)
- Warts / papillomas

Frequent
- Adenoma sebaceum
- Cavernous / tuberous hemangioma
- Fissured / scrotal tongue
- Hairy patch
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Macroglossia / tongue protrusion / proeminent / hypertrophic
- Meningioma
- Neoplasms / tumors
- Penis anomalies
- Pigmented naevi / naevus pigmentosus / lentigo
- Subcutaneous nodules / lipomas / tumefaction / swelling
- Telangiectasiae of mucosae
- Thyroid anomalies
- Xanthomas / lipomas

Occasional
- Abnormal / polycystic ovaries
- Autism / autistic disoders
- Bone cyst
- Cafe-au-lait spot
- Cataract / lens opacification
- Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Cranial hypertension
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Gynecomastia / breast / mammary gland enlargement / hyperplasia
- Hearing loss / hypoacusia / deafness
- High vaulted / narrow palate
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Irregular / patchy skin hypopigmentation
- Kidney / renal neoplasm / tumor / carcinoma / cancer
- Kyphosis
- Melanoma
- Myopia
- Pectus excavatum
- Renal / kidney anomalies
- Retinal vascular anomalies / retinal telangiectasia
- Scoliosis
- Seizures / epilepsy / absences / spasms / status epilepticus
- Short hand / brachydactyly
- Short stature / dwarfism / nanism
- T-cell deficiency / cellular immunity deficiency
- Thyroid neoplasm / tumor / carcinoma / cancer
- Uterine / uterus / Fallopian tubes anomalies
- Uterus / uterine / cervix / endometrium neoplasm / tumor / carcinoma / cancer