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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
Autosomal dominant spastic paraplegia type 13
Hereditary hyperferritinemia with congenital cataracts

HSPD1 FTL


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
HSPD1
(0.49)
FTL



Citations in the biomedical literature:


Autosomal dominant spastic paraplegia type 13
HSPD1
Hereditary hyperferritinemia with congenital cataracts
FTL



Autosomal dominant spastic paraplegia type 13
Hereditary hyperferritinemia with congenital cataracts

Synonym(s):
- SPG13

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

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Diseases of the eye and adnexa -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
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 -
1 MeSH reference: C537485
External references:
1 OMIM reference -
1 MeSH reference: C538137

Hereditary hyperferritinemia with congenital cataracts

Very frequent
- Cataract / lens opacification
- Metabolic anomalies



Autosomal dominant spastic paraplegia type 13

(no data available)