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Synaptic congenital myasthenic syndromes
1 OMIM reference -
2 associated genes
22 connected diseases
No signs/symptoms info
Disease Type of connection
LAMB-2-related infantile-onset nephrotic syndrome
Pierson syndrome
Acute myeloblastic leukemia with maturation
Acute myeloblastic leukemia without maturation
Acute myelomonocytic leukemia
Acute promyelocytic leukemia
Atypical Gaucher disease due to saposin C deficiency
Autosomal dominant hyper-IgE syndrome
Encephalopathy due to prosaposin deficiency
Infantile Krabbe disease
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
Metachromatic leukodystrophy, adult form
Metachromatic leukodystrophy, juvenile form
Metachromatic leukodystrophy, late infantile form
Spinocerebellar ataxia type 7
Butyrylcholinesterase deficiency
Congenital muscular dystrophy type 1A
Familial isolated dilated cardiomyopathy
Generalized junctional epidermolysis bullosa, non-Herlitz type
Junctional epidermolysis bullosa, Herlitz type
LOC syndrome
Postsynaptic congenital myasthenic syndromes
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
COLQ Q9Y215603033
LAMB2 P55268150325
No signs/symptoms info available.