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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
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
1 associated gene
No signs/symptoms info
Connective tissue disorder due to lysyl hydroxylase-3 deficiency
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PLOD3
(UniProt - OMIM)
 ISG15
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
PLOD3
(0.63)
ISG15


Citations in the biomedical literature:


Connective tissue disorder due to lysyl hydroxylase-3 deficiency
PLOD3
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ISG15



Connective tissue disorder due to lysyl hydroxylase-3 deficiency
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

Synonym(s):
- Bone fragility-contractures-arterial rupture-deafness syndrome
- Connective tissue disorder due to LH3 deficiency
Synonym(s):
- MSMD due to complete ISG15 deficiency
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare otorhinolaryngologic disease
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (ICD10):
(no data available)
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
External references:
No OMIM references
No MeSH references
No signs/symptoms info available.