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4 OMIM references -
3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
2 signs/symptoms
Congenital glaucoma
Hereditary hyperferritinemia with congenital cataracts

CYP1B1 FTL
LTBP2
MYOC


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Congenital glaucoma
CYP1B1 LTBP2 MYOC
Hereditary hyperferritinemia with congenital cataracts
FTL



Congenital glaucoma
Hereditary hyperferritinemia with congenital cataracts

Synonym(s):
(no synonyms)

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

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic 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: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal recessive
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:
4 OMIM references -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C538137

Hereditary hyperferritinemia with congenital cataracts

Very frequent
- Cataract / lens opacification
- Metabolic anomalies



Congenital glaucoma

(no data available)