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

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

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


Citations in the biomedical literature:


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



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

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