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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Autosomal dominant spastic paraplegia type 13
Connective tissue disorder due to lysyl hydroxylase-3 deficiency

HSPD1 PLOD3


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
HSPD1
(0.49)
PLOD3



Citations in the biomedical literature:


Autosomal dominant spastic paraplegia type 13
HSPD1
Connective tissue disorder due to lysyl hydroxylase-3 deficiency
PLOD3



Autosomal dominant spastic paraplegia type 13
Connective tissue disorder due to lysyl hydroxylase-3 deficiency

Synonym(s):
- SPG13

Synonym(s):
- Bone fragility-contractures-arterial rupture-deafness syndrome
- Connective tissue disorder due to LH3 deficiency

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare otorhinolaryngologic disease
- Rare systemic or rheumatologic disease

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

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)

External references:
1 OMIM reference -
1 MeSH reference: C537485
External references:
1 OMIM reference -
No MeSH references

No signs/symptoms info available.