Cytoscape Web
Click node...


1 OMIM reference -
2 associated genes
40 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
8 OMIM references -
8 associated genes
24 signs/symptoms
Lethal restrictive dermopathy
Muscle-eye-brain disease

LMNA B3GALNT2
ZMPSTE24 FKRP
FKTN
GMPPB
LARGE
POMGNT1
POMT1
POMT2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
LMNA
(0.63)
GMPPB



Citations in the biomedical literature:


Lethal restrictive dermopathy
LMNA ZMPSTE24
Muscle-eye-brain disease
B3GALNT2 FKRP FKTN GMPPB LARGE POMGNT1
POMT1 POMT2



Lethal restrictive dermopathy
Muscle-eye-brain disease

Synonym(s):
(no synonyms)

Synonym(s):
- MEB syndrome
- Muscle-eye-brain syndrome
- Santavuori congenital muscular dystrophy

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic 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: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal dominant
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 -
No MeSH references
External references:
8 OMIM references -
No MeSH references


COMMON
SIGNS
- Autosomal recessive inheritance


Lethal restrictive dermopathy
Muscle-eye-brain disease

Very frequent
- Absent / decreased lashes
- Anomalies of teeth and dentition
- Early death / lethality
- Ectropion / entropion / eyelid eversion
- External ear anomalies
- Hypoplastic lungs / pulmonary hypoplasia / agenesis
- Large fontanelle / delayed fontanelle closure
- Low set ears / posteriorly rotated ears
- Micrognathia / retrognathia / micrognathism / retrognathism
- Microstomia / little mouth
- Mouth held open
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Restricted joint mobility / joint stiffness / ankylosis
- Rough trabeculation of bone
- Short / small nose
- Stillbirth / neonatal death
- Thick skin / pachydermia / orange skin
- Tight skin / lack of elasticity

Frequent
- Adrenal glands anomalies
- Anomalies of chest / thorax / trunk
- Anomalies of eyelids, eyelashes and lacrimal system
- Atrial septal defect / interauricular communication
- Bladder and ureter anomalies
- Blepharophimosis / short palpebral fissures
- Clavicle absent / abnormal
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Complete claw hand / camptodactyly of all fingers
- Diaphyseal anomaly
- Eyebrows anomalies
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Hypospadias / epispadias / bent penis
- Kyphosis
- Lanugo
- Microtia / cryptomicrotia / anotia / external auditory canal / pinnae aplasia / hypoplasia
- Patent ductus arteriosus
- Polyhydramnios
- Scoliosis

Occasional
- Aortic root dilatation / dilation / aneurysm
- Dextrocardia / abnormal heart position / cardiac heterotaxia / situs inversus


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