Details of Disease | DrugMAP

General Information of Disease (ID: DISI2BZN)

Disease Name	Action myoclonus-renal failure syndrome
Synonyms	epilepsy, progressive myoclonic 4, with or without renal failure; EPM4; myoclonus-nephropathy syndrome; action myoclonus-renal failure syndrome; AMRF; epilepsy, progressive myoclonic, 4, with or without renal failure; progressive myoclonic epilepsy type 4
Definition	Action myoclonus-renal failure syndrome (AMRF) is a rare epilepsy syndrome characterized by progressive myoclonus epilepsy in association with primary glomerular disease. Patients present with neurologic symptoms (including tremor, action myoclonus, tonic-clonic seizures, later ataxia and dysarthria) that may precede, occur simultaneously or be followed by renal manifestations including proteinuria that progresses to nephrotic syndrome and end-stage renal disease. In some patients, sensorimotor peripheral neuropathy, sensorineural hearing loss and dilated cardiomyopathy are associated symptoms.
Disease Hierarchy	DISAMCNS: Progressive myoclonus epilepsy DISI2BZN: Action myoclonus-renal failure syndrome
Disease Identifiers	MONDO ID MONDO_0009699 MESH ID D020191 UMLS CUI C0751779 OMIM ID 254900 MedGen ID 155629 Orphanet ID 163696 SNOMED CT ID 764453009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CLN6	TTJCOQ7	Strong	Biomarker	[1]
KCNC1	TTVUWHQ	Strong	Biomarker	[1]
PRNP	TTY5F9C	Strong	Biomarker	[1]
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This Disease Is Related to 9 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
AFG3L2	OTRPMAUX	Strong	Biomarker	[1]
EPM2A	OTJU4IAG	Strong	Biomarker	[1]
NEU1	OTH9BY8Y	Strong	Biomarker	[1]
NHLRC1	OTRQ0A4W	Strong	Biomarker	[1]
SACS	OTZGXQ8A	Strong	Biomarker	[1]
SCARB2	OTN929M8	Strong	Autosomal recessive	[2]
SERPINI1	OTUJHIJW	Strong	Biomarker	[1]
TBC1D24	OTKZUSMD	Strong	Biomarker	[1]
TSC1	OTFF4YZ7	Strong	Biomarker	[3]
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⏷ Show the Full List of 9 DOT(s)

References

1	A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. Nat Genet. 2015 Jan;47(1):39-46. doi: 10.1038/ng.3144. Epub 2014 Nov 17.
2	Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis. Am J Hum Genet. 2008 Mar;82(3):673-84. doi: 10.1016/j.ajhg.2007.12.019. Epub 2008 Feb 28.
3	The natural history and treatment of epilepsy in a murine model of tuberous sclerosis.Epilepsia. 2007 Aug;48(8):1470-6. doi: 10.1111/j.1528-1167.2007.01110.x. Epub 2007 May 1.