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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 associated gene
No signs/symptoms info
FTH1-related iron overload
12p12.1 microdeletion syndrome

FTH1 SOX5


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
FTH1
(0.63)
SOX5



Citations in the biomedical literature:


FTH1-related iron overload
FTH1
12p12.1 microdeletion syndrome
SOX5



FTH1-related iron overload
12p12.1 microdeletion syndrome

Synonym(s):
- FTH1-associated iron overload

Synonym(s):
- Del(12)(p12.1)
- Monosomy 12p12.1

Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hepatic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: no data available
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: -
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.