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Connective tissue disorder due to lysyl hydroxylase-3 deficiency
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
1 OMIM reference -
1 associated gene
No signs/symptoms info
Connective tissue disorder due to lysyl hydroxylase-3 deficiency
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures

PLOD3
(UniProt - OMIM)
 DYNC1H1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
PLOD3
(0.49)
DYNC1H1


Citations in the biomedical literature:


Connective tissue disorder due to lysyl hydroxylase-3 deficiency
PLOD3
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
DYNC1H1



Connective tissue disorder due to lysyl hydroxylase-3 deficiency
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures

Synonym(s):
- Bone fragility-contractures-arterial rupture-deafness syndrome
- Connective tissue disorder due to LH3 deficiency
Synonym(s):
- Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy without contractures
- SMALED1
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare otorhinolaryngologic disease
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
(no data available)
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: adult
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.