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1 OMIM reference -
2 associated genes
40 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2
1 OMIM reference -
1 associated gene
22 signs/symptoms
Lethal restrictive dermopathy
Developmental malformations - deafness - dystonia

LMNA ACTB
ZMPSTE24


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
LMNA
(0.52)
ACTB



Citations in the biomedical literature:


Lethal restrictive dermopathy
LMNA ZMPSTE24
Developmental malformations - deafness - dystonia
ACTB



Lethal restrictive dermopathy
Developmental malformations - deafness - dystonia

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
- Rare otorhinolaryngologic 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: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: unknown

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


COMMON
SIGNS
- Kyphosis
- Scoliosis


Lethal restrictive dermopathy
Developmental malformations - deafness - dystonia

Very frequent
- Absent / decreased lashes
- Anomalies of teeth and dentition
- Autosomal recessive inheritance
- 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
- Lanugo
- Microtia / cryptomicrotia / anotia / external auditory canal / pinnae aplasia / hypoplasia
- Patent ductus arteriosus
- Polyhydramnios

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


Very frequent
- Autosomal dominant inheritance
- Cleft lip and palate
- Dystonia / torticollis / writer's cramp / blepharospasms
- Early death in adulthood
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Functional colopathy / irritable bowel syndrome
- High forehead
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Hypertelorism
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Macroglossia / tongue protrusion / proeminent / hypertrophic
- Megaesophagus / cardiospasm / congenital dilation of the esophagus / achalasia
- Psychic / psychomotor regression / dementia / intellectual decline
- Scapula structural / position anomaly / congenital elevation / Sprengel anomaly
- Sensorineural deafness / hearing loss
- Short limbs / micromelia / brachymelia
- Short stature / dwarfism / nanism

Frequent
- Cataract / lens opacification
- Visual loss / blindness / amblyopia