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1 OMIM reference -
1 associated gene
8 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
3 OMIM references -
4 associated genes
12 signs/symptoms
Dilated cardiomyopathy - hypergonadotropic hypogonadism
Juvenile amyotrophic lateral sclerosis

LMNA ALS2
FUS
SIGMAR1
SPG11


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Dilated cardiomyopathy - hypergonadotropic hypogonadism
LMNA
Juvenile amyotrophic lateral sclerosis
ALS2 FUS SIGMAR1 SPG11



Dilated cardiomyopathy - hypergonadotropic hypogonadism
Juvenile amyotrophic lateral sclerosis

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

Synonym(s):
- JALS
- Juvenile Charcot disease
- Juvenile Lou Gehrig disease

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

Classification (ICD10):
(no data available)
Classification (ICD10):
- Diseases of the nervous 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: <1 / 1 000 000
Average age onset: childhood
Average age of death: adult
Type of inheritance: autosomal recessive

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


COMMON
SIGNS
- Autosomal recessive inheritance


Dilated cardiomyopathy - hypergonadotropic hypogonadism
Juvenile amyotrophic lateral sclerosis

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 EMG / electromyogram / electropmyography
- Abnormal gait
- Elocution disorders / dysarthria / dysphonia
- Hypereflexia
- Hypertonia / spasticity / rigidity / stiffness
- Motor deficit / trouble
- Pyramidal syndrome

Frequent
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Pseudobulbar signs / spasmodic laugh and cry

Occasional
- Bladder and ureter anomalies
- Sensitive trouble / deficit