Details of Disease | DrugMAP

General Information of Disease (ID: DISROZY1)

Disease Name	Myasthenic syndrome, congenital, 22
Synonyms	Prepl deficiency; CMS22; myasthenic syndrome, congenital, 22
Disease Hierarchy	DIS2BIP8: Congenital nervous system disorder DISJLG2T: Congenital myasthenic syndrome DISROZY1: Myasthenic syndrome, congenital, 22
Disease Identifiers	MONDO ID MONDO_0044299 UMLS CUI C4479088 OMIM ID 616224 MedGen ID 1393545

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PREPL	TT3HYDO	Strong	Autosomal recessive	[1]
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This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC3A1	DTBCKVM	Definitive	Biomarker	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PREPL	OTN5XMLZ	Strong	Autosomal recessive	[1]
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References

1	PREPL deficiency with or without cystinuria causes a novel myasthenic syndrome. Neurology. 2014 Apr 8;82(14):1254-60. doi: 10.1212/WNL.0000000000000295. Epub 2014 Mar 7.