Cytoscape Web
Click node...


1 OMIM reference -
1 associated gene
8 signs/symptoms
PROTEIN INTERACTIONS: 1
8 OMIM references -
9 associated genes
No signs/symptoms info
Dilated cardiomyopathy - hypergonadotropic hypogonadism
Familial thoracic aortic aneurysm and aortic dissection

LMNA ACTA2
FBN1
MYH11
MYLK
PRKG1
SMAD3
TGFB2
TGFBR1
TGFBR2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
LMNA
(0.59)
SMAD3



Citations in the biomedical literature:


Dilated cardiomyopathy - hypergonadotropic hypogonadism
LMNA
Familial thoracic aortic aneurysm and aortic dissection
ACTA2 FBN1 MYH11 MYLK PRKG1 SMAD3
TGFB2 TGFBR1 TGFBR2



Dilated cardiomyopathy - hypergonadotropic hypogonadism
Familial thoracic aortic aneurysm and aortic dissection

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

Synonym(s):
- Familial TAAD

Classification (Orphanet):
- Rare cardiac disease
- Rare endocrine disease
- Rare genetic disease
- Rare infertility
Classification (Orphanet):
- Rare circulatory system disease
- Rare genetic disease
- Rare surgical thoracic disease
- Rare systemic or rheumatologic disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Diseases of the circulatory system -

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:
8 OMIM references -
No MeSH references

Dilated cardiomyopathy - hypergonadotropic hypogonadism

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



Familial thoracic aortic aneurysm and aortic dissection

(no data available)