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Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Premature ageing appearance-developmental delay-cardiac arrhythmia syndrome
1 OMIM reference -
1 associated gene
No signs/symptoms info
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Premature ageing appearance-developmental delay-cardiac arrhythmia syndrome

STAT1
(UniProt - OMIM)
 NAA10
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
STAT1
(0.63)
NAA10


Citations in the biomedical literature:


Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
STAT1
Premature ageing appearance-developmental delay-cardiac arrhythmia syndrome
NAA10



Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Premature ageing appearance-developmental delay-cardiac arrhythmia syndrome

Synonym(s):
- MSMD due to partial STAT1 deficiency
- MSMD due to partial signal transducer and activator of transcription 1 deficiency
- Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency
Synonym(s):
- Ogden syndrome
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic 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: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: x-linked recessive
External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.