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Miyoshi myopathy
3 OMIM references -
2 associated genes
No signs/symptoms info
COMMON GENES: 1
Gnathodiaphyseal dysplasia
1 OMIM reference -
1 associated gene
10 signs/symptoms
Miyoshi myopathy
Gnathodiaphyseal dysplasia

ANO5
(UniProt - OMIM)
 ANO5
(UniProt - OMIM)
DYSF
(UniProt - OMIM)

COMMON
GENES 		ANO5


Citations in the biomedical literature:


Miyoshi myopathy
ANO5 DYSF
Gnathodiaphyseal dysplasia



Miyoshi myopathy
Gnathodiaphyseal dysplasia

Synonym(s):
(no synonyms)

Synonym(s):
- GDD
Classification (Orphanet):
- 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):
(no data available)
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
External references:
3 OMIM references -
1 MeSH reference: C537480
External references:
1 OMIM reference -
No MeSH references
Gnathodiaphyseal dysplasia

Very frequent
- Autosomal dominant inheritance
- Bowed diaphysis / diaphyses / long bones
- Cortical anomaly / thick bone cortical layer
- Enlargment of jaw / large jaw

Frequent
- Osteomyelitis / osteitis / periostitis / spondylodisciitis
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Premature eruption of teeth / natal teeth

Occasional
- Bone tumefaction / swelling
- Mutiple fractures / bone fragility
- Scoliosis


Miyoshi myopathy

(no data available)