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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Autosomal dominant spastic paraplegia type 13
Congenital brain dysgenesis due to glutamine synthetase deficiency

HSPD1 GLUL


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
HSPD1
(0.63)
GLUL



Citations in the biomedical literature:


Autosomal dominant spastic paraplegia type 13
HSPD1
Congenital brain dysgenesis due to glutamine synthetase deficiency
GLUL



Autosomal dominant spastic paraplegia type 13
Congenital brain dysgenesis due to glutamine synthetase deficiency

Synonym(s):
- SPG13

Synonym(s):
- Inherited GS deficiency
- Inherited glutamine synthetase deficiency

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

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)

External references:
1 OMIM reference -
1 MeSH reference: C537485
External references:
1 OMIM reference -
No MeSH references

No signs/symptoms info available.