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1 OMIM reference -
2 associated genes
40 signs/symptoms
COMMON GENES: 1
PROTEIN INTERACTIONS: 1
Lethal restrictive dermopathy
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form

LMNA CTNNA3
ZMPSTE24 DSC2
DSG2
DSP
JUP
LMNA
PKP2
RYR2
TGFB3
TMEM43
TTN


COMMON
GENES
LMNA


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ZMPSTE24
(0.49)
TMEM43



Citations in the biomedical literature:


Lethal restrictive dermopathy
LMNA ZMPSTE24
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
CTNNA3 DSC2 DSG2 DSP JUP
PKP2 RYR2 TGFB3 TMEM43 TTN



Lethal restrictive dermopathy
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form

Synonym(s):
(no synonyms)

Synonym(s):
- Familial isolated arrhythmogenic ventricular cardiomyopathy, biventricular form

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare cardiac disease
- Rare genetic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the circulatory system -

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:
(no data available)

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

Lethal restrictive dermopathy

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
- 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


Familial isolated arrhythmogenic ventricular dysplasia, biventricular form

(no data available)