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14q11.2 microduplication syndrome
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Hyperlipidemia type 3
1 associated gene
No signs/symptoms info
14q11.2 microduplication syndrome
Hyperlipidemia type 3

FOXG1
(UniProt - OMIM)
 APOE
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
FOXG1
(0.63)
APOE


Citations in the biomedical literature:


14q11.2 microduplication syndrome
FOXG1
Hyperlipidemia type 3
APOE



14q11.2 microduplication syndrome
Hyperlipidemia type 3

Synonym(s):
- Dup(14)(q11.2)
- Trisomy 14q11.2
Synonym(s):
- Broad-betalipoproteinemia
- Dyslipidemia type 3
- Familial dysbetalipoproteinemia
- Familial hyperlipoproteinemia type 3
- HLP type 3
- Hyperlipoproteinemia type 3
- Remnant disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare endocrine disease
- Rare genetic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: variable
Average age of death: normal
Type of inheritance: multigenic/multifactorial
External references:
No OMIM references
No MeSH references
External references:
No OMIM references
1 MeSH reference: D006952
No signs/symptoms info available.