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Naxos disease
1 OMIM reference -
1 associated gene
14 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
Muscle-eye-brain disease
8 OMIM references -
8 associated genes
24 signs/symptoms
Naxos disease
Muscle-eye-brain disease

JUP
(UniProt - OMIM)
 B3GALNT2
(UniProt - OMIM)
FKRP
(UniProt - OMIM)
FKTN
(UniProt - OMIM)
GMPPB
(UniProt - OMIM)
LARGE
(UniProt - OMIM)
POMGNT1
(UniProt - OMIM)
POMT1
(UniProt - OMIM)
POMT2
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
JUP
(0.63)
GMPPB


Citations in the biomedical literature:


Naxos disease
JUP
Muscle-eye-brain disease
B3GALNT2 FKRP FKTN GMPPB LARGE POMGNT1
POMT1 POMT2



Naxos disease
Muscle-eye-brain disease

Synonym(s):
- Keratosis palmoplantaris with arrythmogenic cardiomyopathy
- Palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy
- Palmoplantar keratoderma with arrythmogenic cardiomyopathy
Synonym(s):
- MEB syndrome
- Muscle-eye-brain syndrome
- Santavuori congenital muscular dystrophy
Classification (Orphanet):
- Rare cardiac disease
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
1 MeSH reference: C538346
External references:
8 OMIM references -
No MeSH references
COMMON
SIGNS 		- Autosomal recessive inheritance

Naxos disease
Muscle-eye-brain disease

Very frequent
- Abnormal hair texture / hair dysplasia
- Cardiac rhythm disorder / arrhythmia
- Cardiomyopathy / hypertrophic / dilated
- Dizziness
- Palmoplantar hyperkeratosis / keratoderma
- Woolly / frizzy hair

Frequent
- Brittle hair / distrix / trichorrhexis
- Cleft lip
- Heart / cardiac failure
- Hyperhidrosis / increased sweating
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness

Occasional
- Acanthosis nigricans
- Collapse / sudden death / cardiac arrest / cardiorespiratory arrest


Very frequent
- Abnormal EMG / electromyogram / electropmyography
- Abnormal gait
- Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase
- EEG anomalies
- Glaucoma
- Hydrocephaly
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Mild visual loss / impaired visual acuity
- Myopathy
- Myopia
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Strabismus / squint

Frequent
- Abnormal cry / voice / phonation disorder / nasal speech
- Cataract / lens opacification
- Hypertonia / spasticity / rigidity / stiffness
- Hypotonia
- Movement disorder
- Seizures / epilepsy / absences / spasms / status epilepticus

Occasional
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Holoprosencephaly / arhinencephaly / unique lateral ventricle
- Meningocele