congenital myasthenic syndrome 7

Summary
Synonym
  • CMS7
  • congenital myasthenic syndrome 7 presynaptic
Definition
A congenital myasthenic syndrome characterized by autosomal dominant inheritance of presynaptic defects with onset of symptoms in early childhood that has_material_basis_in heterozygous mutation in the SYT2 gene on chromosome 1q32.
Super Class
autosomal dominant disease congenital myasthenic syndrome
Disease Ontology
DOID:0110659
Mondo Disease Ontology
OMIM
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
6857 SYT1 synaptotagmin 1
127833 SYT2 synaptotagmin 2
Displaying all 2 entries
Gene ID Gene Symbol Description Source
20979 Syt1 synaptotagmin I
20980 Syt2 synaptotagmin II
Displaying all 2 entries
Gene ID Gene Symbol Description Source
24805 Syt2 synaptotagmin 2
25716 Syt1 synaptotagmin 1
The Human Phenotype Ontology
Displaying entries 41 - 50 of 64 in total
HPO ID HPO Term
HP:0003473 Fatigable weakness
HP:0001618 Dysphonia
HP:0003324 Generalized muscle weakness
HP:0001283 Bulbar palsy
HP:0002421 Poor head control
HP:0001251 Ataxia
HP:0002033 Poor suck
HP:0002870 Obstructive sleep apnea
HP:0001558 Decreased fetal movement
HP:0009053 Distal lower limb muscle weakness
Displaying all 2 entries
Gene ID Gene Symbol Description
1103 CHAT choline O-acetyltransferase
375790 AGRN agrin

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024