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3 OMIM references -
3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 3
1 OMIM reference -
1 associated gene
8 signs/symptoms
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Dilated cardiomyopathy - hypergonadotropic hypogonadism

HNRNPA1 LMNA
HNRNPA2B1
VCP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
VCP
HNRNPA1
HNRNPA2B1
(0.63)
(0.49)
(0.49)
LMNA
LMNA
LMNA



Citations in the biomedical literature:


Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
HNRNPA1 HNRNPA2B1 VCP
Dilated cardiomyopathy - hypergonadotropic hypogonadism
LMNA



Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Dilated cardiomyopathy - hypergonadotropic hypogonadism

Synonym(s):
- IBMPFD
- Limb-girdle muscular dystrophy with Paget disease of bone
- Pagetoid amyotrophic lateral sclerosis
- Pagetoid neuroskeletal syndrome

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

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

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

Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
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:
3 OMIM references -
No MeSH references
External references:
1 OMIM reference -
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



Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

(no data available)