congenital myasthenic syndrome
GPTKB entity
Statements (87)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
muscular dystrophy |
| gptkbp:affects |
neuromuscular junction
|
| gptkbp:associatedWith |
gptkb:ITGB1
gptkb:ITGAL gptkb:COL13A1 gptkb:ITGAM gptkb:ITGB2 gptkb:ITGAE gptkb:LAMB2 gptkb:LAMA2 CHAT ITGB3 ITGB4 ITGB5 ITGB6 ITGB7 ITGB8 SCN4A CHRNE COLQ AGRN ALG14 ALG2 B3GALNT2 B3GNT1 DAG1 DOK7 DPAGT1 DPM1 DPM2 DPM3 FKRP FKTN GFPT1 GMPPB ISPD ITGA10 ITGA11 ITGA2 ITGA3 ITGA5 ITGA6 ITGA7 ITGA8 ITGA9 ITGAV ITGBL1 LARGE1 LARGE2 MUSK POMGNT1 POMGNT2 POMK POMT1 POMT2 PREPL RAPSN SGCA SGCB SGCD SGCG SLC5A7 TOR1AIP1 |
| gptkbp:causedBy |
genetic disorder
|
| gptkbp:distinctFrom |
gptkb:myasthenia_gravis
|
| gptkbp:hasOrphanetID |
ORPHA:590
|
| https://www.w3.org/2000/01/rdf-schema#label |
congenital myasthenic syndrome
|
| gptkbp:ICD-10_code |
gptkb:G70.3
|
| gptkbp:inheritance |
autosomal dominant
autosomal recessive |
| gptkbp:MeSH_ID |
D020521
|
| gptkbp:OMIM |
254210
|
| gptkbp:onset |
childhood
congenital |
| gptkbp:symptom |
muscle weakness
ptosis fatigability ophthalmoplegia respiratory difficulties |
| gptkbp:treatment |
gptkb:ephedrine
gptkb:3,4-diaminopyridine gptkb:salbutamol acetylcholinesterase inhibitors |
| gptkbp:bfsParent |
gptkb:VAMP1
gptkb:COL13A1 |
| gptkbp:bfsLayer |
7
|