Cytoscape Web
Click node...

CLOVE syndrome
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
1 associated gene
No signs/symptoms info
CLOVE syndrome
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency

PIK3CA
(UniProt - OMIM)
 STAT1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
PIK3CA
(0.52)
STAT1


Citations in the biomedical literature:


CLOVE syndrome
PIK3CA
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
STAT1



CLOVE syndrome
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency

Synonym(s):
- Congenital lipomatous overgrowth - vascular malformation - epidermal nevi
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
Classification (Orphanet):
- Rare circulatory system disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare oncologic disease
- Rare skin disease
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: sporadic
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
External references:
No OMIM references
No MeSH references
No signs/symptoms info available.