Cytoscape Web
Click node...


1 OMIM reference -
1 associated gene
8 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
1 OMIM reference -
1 associated gene
5 signs/symptoms
Dilated cardiomyopathy - hypergonadotropic hypogonadism
Glycogen storage disease due to muscle glycogen phosphorylase deficiency

LMNA PYGM


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Dilated cardiomyopathy - hypergonadotropic hypogonadism
LMNA
Glycogen storage disease due to muscle glycogen phosphorylase deficiency
PYGM



Dilated cardiomyopathy - hypergonadotropic hypogonadism
Glycogen storage disease due to muscle glycogen phosphorylase deficiency

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

Synonym(s):
- GSD due to muscle glycogen phosphorylase deficiency
- GSD type 5
- Glycogen storage disease type 5
- Glycogenosis due to muscle glycogen phosphorylase deficiency
- Glycogenosis type 5
- McArdle disease
- Myophosphorylase deficiency

Classification (Orphanet):
- Rare cardiac disease
- Rare endocrine disease
- Rare genetic disease
- Rare infertility
Classification (Orphanet):
- Inborn errors of metabolism
- 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: unknown
Average age onset: variable
Average age of death: normal
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
2 MeSH references: C537276 / D006012


COMMON
SIGNS
- Autosomal recessive inheritance


Dilated cardiomyopathy - hypergonadotropic hypogonadism
Glycogen storage disease due to muscle glycogen phosphorylase deficiency

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



Very frequent
- Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase

Frequent
- Myopathy

Occasional
- Renal failure
- Structural anomalies of the cardio-circulatory system