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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
10 signs/symptoms
CLN10 disease
Galactosialidosis

CTSD CTSA


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CTSD
(0.56)
CTSA



Citations in the biomedical literature:


CLN10 disease
CTSD
Galactosialidosis
CTSA



CLN10 disease
Galactosialidosis

Synonym(s):
- Cathepsin D deficiency

Synonym(s):
- Goldberg syndrome
- Neuraminidase deficiency with beta-galactosidase deficiency

Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare bone disease
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: -
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C536411

Galactosialidosis

Very frequent
- Anomalies of spine, vertebrae and pelvis
- Autosomal recessive inheritance
- Coarse face
- Corneal clouding / opacity / vascularisation
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Hearing loss / hypoacusia / deafness
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Macular pigmentary anomaly / cherry-red spot
- Seizures / epilepsy / absences / spasms / status epilepticus
- Short stature / dwarfism / nanism



CLN10 disease

(no data available)