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Muscle-eye-brain disease
8 OMIM references -
8 associated genes
44 connected diseases
24 signs/symptoms
Disease Type of connection
Walker-Warburg syndrome
Congenital muscular dystrophy with cerebellar involvement
Congenital muscular dystrophy with intellectual disability
Congenital muscular dystrophy without intellectual disability
Autosomal recessive limb-girdle muscular dystrophy type 2K
Autosomal recessive limb-girdle muscular dystrophy type 2N
Autosomal recessive limb-girdle muscular dystrophy type 2I
Autosomal recessive limb-girdle muscular dystrophy type 2M
Autosomal recessive limb-girdle muscular dystrophy type 2O
Autosomal recessive limb-girdle muscular dystrophy type 2T
Familial isolated dilated cardiomyopathy
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Triple A syndrome
Atypical Werner syndrome
Autosomal codominant severe lipodystrophic laminopathy
Autosomal dominant Emery-Dreifuss muscular dystrophy
Autosomal dominant limb-girdle muscular dystrophy type 1B
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Autosomal recessive Emery-Dreifuss muscular dystrophy
Charcot-Marie-Tooth disease type 2B1
Congenital muscular dystrophy due to LMNA mutation
Dilated cardiomyopathy - hypergonadotropic hypogonadism
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Familial pancreatic carcinoma
Familial partial lipodystrophy, Dunnigan type
Familial partial lipodystrophy, Köbberling type
Familial prostate cancer
Heart-hand syndrome, Slovenian type
Hereditary breast and ovarian cancer syndrome
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Hutchinson-Gilford progeria syndrome
LMNA-related cardiocutaneous progeria syndrome
Laminopathy type Decaudain-Vigouroux
Left ventricular noncompaction
Lethal acantholytic epidermolysis bullosa
Lethal restrictive dermopathy
Mandibuloacral dysplasia with type A lipodystrophy
Naxos disease
Primary peritoneal carcinoma
Progeria-associated arthropathy
Proximal myotonic myopathy
- MEB syndrome
- Muscle-eye-brain syndrome
- Santavuori congenital muscular dystrophy

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 -

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
8 OMIM references -
No MeSH references

Very frequent
- Abnormal EMG / electromyogram / electropmyography
- Abnormal gait
- Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase
- Autosomal recessive inheritance
- 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

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

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