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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
2 associated genes
No signs/symptoms info
Generalized congenital lipodystrophy with myopathy
Duchenne muscular dystrophy

PTRF DMD
LTBP4


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PTRF
(0.63)
DMD



Citations in the biomedical literature:


Generalized congenital lipodystrophy with myopathy
PTRF
Duchenne muscular dystrophy
DMD LTBP4



Generalized congenital lipodystrophy with myopathy
Duchenne muscular dystrophy

Synonym(s):
- GCL4
- Generalized congenital lipodystrophy type 4

Synonym(s):
- DMD
- Severe dystrophinopathy, Duchenne type

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

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
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: 1-9 / 100 000
Average age onset: childhood
Average age of death: young adult
Type of inheritance: x-linked recessive

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D020388

No signs/symptoms info available.