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Adenylosuccinate lyase deficiency
1 OMIM reference -
1 associated gene
5 connected diseases
No signs/symptoms info
Disease Type of connection
Amyotrophic lateral sclerosis
Autosomal recessive spastic paraplegia type 45
Haim-Munk syndrome
Papillon-Lefèvre syndrome
Williams syndrome
Synonym(s):
- ADSL deficiency
- Adenylosuccinase deficiency
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
1 MeSH reference: C538235
Gene symbol UniProt reference OMIM reference
ADSL P30566608222
No signs/symptoms info available.