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1 OMIM reference -
1 associated gene
8 signs/symptoms
PROTEIN INTERACTIONS: 1
5 OMIM references -
4 associated genes
No signs/symptoms info
Dilated cardiomyopathy - hypergonadotropic hypogonadism
Familial hemophagocytic lymphohistiocytosis

LMNA PRF1
STX11
STXBP2
UNC13D


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
LMNA
(0.63)
UNC13D



Citations in the biomedical literature:


Dilated cardiomyopathy - hypergonadotropic hypogonadism
LMNA
Familial hemophagocytic lymphohistiocytosis
PRF1 STX11 STXBP2 UNC13D



Dilated cardiomyopathy - hypergonadotropic hypogonadism
Familial hemophagocytic lymphohistiocytosis

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

Synonym(s):
- Familial HLH

Classification (Orphanet):
- Rare cardiac disease
- Rare endocrine disease
- Rare genetic disease
- Rare infertility
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
- Rare neurologic disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

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: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
No MeSH references
External references:
5 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 hemophagocytic lymphohistiocytosis

(no data available)