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Congenital myasthenic syndromes with glycosylation defect
2 OMIM references -
4 associated genes
10 connected diseases
No signs/symptoms info
Disease Type of connection
ALG2-CDG
DPAGT1-CDG
Autosomal dominant Charcot-Marie-Tooth disease type 2D
Autosomal recessive spastic paraplegia type 53
Burkitt lymphoma
Craniolenticulosutural dysplasia
Distal hereditary motor neuropathy type 5
Inflammatory myofibroblastic tumor
Precursor T-cell acute lymphoblastic leukemia
Pseudohypoaldosteronism type 2E
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Inborn errors of metabolism
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
2 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
ALG14 Q96F25612866
ALG2 Q9H553607905
DPAGT1 Q9H3H5191350
GFPT1 Q06210138292
No signs/symptoms info available.