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Trichothiodystrophy
4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
1 associated gene
No signs/symptoms info
Trichothiodystrophy
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

ERCC2
(UniProt - OMIM)
 ISG15
(UniProt - OMIM)
ERCC3
(UniProt - OMIM)
GTF2H5
(UniProt - OMIM)
MPLKIP
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
ERCC2
(0.63)
ISG15


Citations in the biomedical literature:


Trichothiodystrophy
ERCC2 ERCC3 GTF2H5 MPLKIP
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ISG15



Trichothiodystrophy
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

Synonym(s):
(no synonyms)

Synonym(s):
- MSMD due to complete ISG15 deficiency
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare infertility
- Rare skin disease
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (ICD10):
- Diseases of the skin and subcutaneous tissue -
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:
No OMIM references
2 MeSH references: C536559 / D054463
External references:
No OMIM references
No MeSH references
No signs/symptoms info available.