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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
2 signs/symptoms
CLOVE syndrome
Hereditary hyperferritinemia with congenital cataracts

PIK3CA FTL


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PIK3CA
(0.63)
FTL



Citations in the biomedical literature:


CLOVE syndrome
PIK3CA
Hereditary hyperferritinemia with congenital cataracts
FTL



CLOVE syndrome
Hereditary hyperferritinemia with congenital cataracts

Synonym(s):
- Congenital lipomatous overgrowth - vascular malformation - epidermal nevi

Synonym(s):
- Bonneau-Beaumont syndrome
- HHCS
- Hereditary hyperferritinemia-cataract syndrome

Classification (Orphanet):
- Rare circulatory system disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare oncologic disease
- Rare skin disease
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the eye and adnexa -

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: variable
Average age of death: normal
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C538137

Hereditary hyperferritinemia with congenital cataracts

Very frequent
- Cataract / lens opacification
- Metabolic anomalies



CLOVE syndrome

(no data available)