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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
29 signs/symptoms
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Sjögren-Larsson syndrome

LMNA ALDH3A2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
LMNA
(0.49)
ALDH3A2



Citations in the biomedical literature:


Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
LMNA
Sjögren-Larsson syndrome
ALDH3A2



Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Sjögren-Larsson syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- Fatty acid alcohol oxidoreductase deficiency

Classification (Orphanet):
- Rare cardiac disease
- Rare genetic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare skin disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

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: any age
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D016111

Sjögren-Larsson syndrome

Very frequent
- Autosomal recessive inheritance
- Dry / squaly skin / exfoliation
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Hypertonia / spasticity / rigidity / stiffness
- Ichthyosis / ichthyosiform dermatitis
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Kyphosis
- Pyramidal syndrome

Frequent
- Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis
- Corneal ulceration / perforation
- Diffuse / generalised skin hyperpigmentation / melanoderma
- Elocution disorders / dysarthria / dysphonia
- Macular dystrophy / absence / hypoplasia of the macula
- Myopia
- Photophobia
- Retinitis pigmentosa / retinal pigmentary changes
- Retinopathy
- Seizures / epilepsy / absences / spasms / status epilepticus
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia

Occasional
- Enamel anomaly
- Hypotonia
- Microcephaly
- Restricted joint mobility / joint stiffness / ankylosis
- Scoliosis
- Short stature / dwarfism / nanism
- Urticaria


Familial dilated cardiomyopathy with conduction defect due to LMNA mutation

(no data available)