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1 OMIM reference -
1 associated gene
8 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
19 signs/symptoms
Dilated cardiomyopathy - hypergonadotropic hypogonadism
Partial acquired lipodystrophy

LMNA LMNB2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
LMNA
(0.49)
LMNB2



Citations in the biomedical literature:


Dilated cardiomyopathy - hypergonadotropic hypogonadism
LMNA
Partial acquired lipodystrophy
LMNB2



Dilated cardiomyopathy - hypergonadotropic hypogonadism
Partial acquired lipodystrophy

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

Synonym(s):
- Barraquer-Simons syndrome
- Progressive cephalothoracic lipodystrophy

Classification (Orphanet):
- Rare cardiac disease
- Rare endocrine disease
- Rare genetic disease
- Rare infertility
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare skin 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: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: sporadic

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

Dilated cardiomyopathy - hypergonadotropic hypogonadism
Partial acquired lipodystrophy

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
- Abnormal fat distribution / lipodystrophy
- Lipoatrophy

Frequent
- Anomalies of complement
- Autoimmunity / autoimmune reaction / autoantibodies
- Hearing loss / hypoacusia / deafness
- Hematuria / microhematuria
- Hyperlymphocytosis
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Myopathy
- Premature ageing
- Proteinuria
- Renal glomerular defect / glomerulopathy
- Seizures / epilepsy / absences / spasms / status epilepticus

Occasional
- Anomalies of skin, subcutaneous tissue and mucosae
- Articular / joint pain / arthralgia
- Hirsutism / hypertrichosis / Increased body hair
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Insulin resistance
- Liver / hepatic steatosis