Cytoscape Web
Click node...


1 OMIM reference -
1 associated gene
8 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
21 signs/symptoms
Dilated cardiomyopathy - hypergonadotropic hypogonadism
Adult-onset autosomal dominant leukodystrophy

LMNA LMNB1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
LMNA
(0.84)
LMNB1



Citations in the biomedical literature:


Dilated cardiomyopathy - hypergonadotropic hypogonadism
LMNA
Adult-onset autosomal dominant leukodystrophy
LMNB1



Dilated cardiomyopathy - hypergonadotropic hypogonadism
Adult-onset autosomal dominant leukodystrophy

Synonym(s):
- Cardiogenital syndrome
- Malouf syndrome
- Najjar syndrome

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare cardiac disease
- Rare endocrine disease
- Rare genetic disease
- Rare infertility
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease

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

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

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

Dilated cardiomyopathy - hypergonadotropic hypogonadism
Adult-onset autosomal dominant leukodystrophy

Very frequent
- Abnormal / polycystic ovaries
- Autosomal recessive inheritance
- Broad nose / nasal bridge
- Cardiomyopathy / hypertrophic / dilated
- Decreased body hair / axillar / pubic hairlessness
- Late puberty / hypogonadism / hypogenitalism
- Precocious puberty
- Ptosis



Very frequent
- Ataxia / incoordination / trouble of the equilibrium
- Autosomal dominant inheritance
- Motor deficit / trouble
- Total / partial trisomy / duplication

Frequent
- Abnormal gait
- Constipation
- Execution movement disorder / dysmetria / bradykinesia / akinesia / apraxia
- Hypertonia / spasticity / rigidity / stiffness
- Hypotension
- Impotence / painful erection / priapism / erection troubles
- Nystagmus
- Sphincter dysfunction
- Tremor

Occasional
- Corpus callosum / septum pellucidum total / partial agenesis
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Elocution disorders / dysarthria / dysphonia
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Hearing loss / hypoacusia / deafness
- Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Visual loss / blindness / amblyopia