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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
6 OMIM references -
7 associated genes
14 signs/symptoms
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Congenital non-bullous ichthyosiform erythroderma

LMNA ABCA12
ALOX12B
ALOXE3
CERS3
NIPAL4
PNPLA1
TGM1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
LMNA
(0.67)
ALOX12B



Citations in the biomedical literature:


Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
LMNA
Congenital non-bullous ichthyosiform erythroderma
ABCA12 ALOX12B ALOXE3 CERS3 NIPAL4 PNPLA1
TGM1



Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Congenital non-bullous ichthyosiform erythroderma

Synonym(s):
(no synonyms)

Synonym(s):
- CIE
- Erythrodermic ichthyosis
- Non-bullous congenital ichthyosiform erythroderma

Classification (Orphanet):
- Rare cardiac disease
- Rare genetic disease
Classification (Orphanet):
- Rare genetic disease
- Rare skin disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: unknown
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal recessive

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

Congenital non-bullous ichthyosiform erythroderma

Very frequent
- Autosomal recessive inheritance
- Ectropion / entropion / eyelid eversion
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance
- Ichthyosis / ichthyosiform dermatitis
- Pruritus / itching

Frequent
- Alopecia
- Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis
- Corneal ulceration / perforation
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hearing loss / hypoacusia / deafness
- Nails anomalies
- Palmoplantar hyperkeratosis / keratoderma

Occasional
- Short stature / dwarfism / nanism


Familial dilated cardiomyopathy with conduction defect due to LMNA mutation

(no data available)