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Autosomal dominant Emery-Dreifuss muscular dystrophy
4 OMIM references -
4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Isolated osteopoikilosis
1 OMIM reference -
1 associated gene
6 signs/symptoms
Autosomal dominant Emery-Dreifuss muscular dystrophy
Isolated osteopoikilosis

LMNA
(UniProt - OMIM)
 LEMD3
(UniProt - OMIM)
SYNE1
(UniProt - OMIM)
SYNE2
(UniProt - OMIM)
TMEM43
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
LMNA
(0.49)
LEMD3


Citations in the biomedical literature:


Autosomal dominant Emery-Dreifuss muscular dystrophy
LMNA SYNE1 SYNE2 TMEM43
Isolated osteopoikilosis
LEMD3



Autosomal dominant Emery-Dreifuss muscular dystrophy
Isolated osteopoikilosis

Classification (Orphanet):
- Rare cardiac disease
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
(no data available)
Epidemiological data:
(no data available)
External references:
4 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
Isolated osteopoikilosis

Very frequent
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Ectopic / horseshoe / fused kidneys
- Microcephaly
- Osteosclerosis / osteopetrosis / bone condensation
- Short stature / dwarfism / nanism
- Subcutaneous nodules / lipomas / tumefaction / swelling



Autosomal dominant Emery-Dreifuss muscular dystrophy

(no data available)