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1 associated gene
6 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
8 signs/symptoms
Melorheostosis with osteopoikilosis
Dilated cardiomyopathy - hypergonadotropic hypogonadism

LEMD3 LMNA


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
LEMD3
(0.49)
LMNA



Citations in the biomedical literature:


Melorheostosis with osteopoikilosis
LEMD3
Dilated cardiomyopathy - hypergonadotropic hypogonadism
LMNA



Melorheostosis with osteopoikilosis
Dilated cardiomyopathy - hypergonadotropic hypogonadism

Synonym(s):
- MSBD syndrome
- Mixed sclerosing bone dystrophy

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

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

Classification (ICD10):
- Diseases of the musculoskeletal system and connective tissue -
Classification (ICD10):
(no data available)

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

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

Melorheostosis with osteopoikilosis
Dilated cardiomyopathy - hypergonadotropic hypogonadism

Very frequent
- Cortical anomaly / thick bone cortical layer
- Osteosclerosis / osteopetrosis / bone condensation

Occasional
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Chronic arterial hypertension
- Subcutaneous nodules / lipomas / tumefaction / swelling
- Xanthomas / lipomas


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