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	progressive myoclonus epilepsy

Disease ID	385
Disease	progressive myoclonus epilepsy
Definition	A heterogeneous group of primarily familial disorders characterized by myoclonic seizures, tonic-clonic seizures, ataxia, progressive intellectual deterioration, and neuronal degeneration. These include LAFORA DISEASE; MERRF SYNDROME; NEURONAL CEROID-LIPOFUSCINOSIS; sialidosis (see MUCOLIPIDOSES), and UNVERRICHT-LUNDBORG SYNDROME.
Synonym	epilepsies, progressive myoclonic epilepsies, progressive myoclonus epilepsy, progressive myoclonic epilepsy, progressive myoclonus myoclonic epilepsies, progressive myoclonic epilepsies, progressive [disease/finding] myoclonic epilepsy, progressive myoclonus epilepsies, progressive progressive myoclonic epilepsies progressive myoclonic epilepsy progressive myoclonic epilepsy (disorder) progressive myoclonic epilepsy (disorder) [ambiguous] progressive myoclonus epilepsies
Orphanet	ORPHANET:98261
OMIM	OMIM:310370 OMIM:254800
DOID	DOID:891
UMLS	C0751778
MeSH	D020191
SNOMED-CT	SNOMEDCT_US_2016_09_01:267581004
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:13) C0026846 \| muscular atrophy \| 4 C0026847 \| spinal muscular atrophy \| 4 C0004134 \| ataxia \| 2 C0042373 \| vascular disease \| 1 C0038220 \| status epilepticus \| 1 C0178664 \| glomerulosclerosis \| 1 C0017205 \| gaucher's disease \| 1 C0035372 \| rett syndrome \| 1 C0014544 \| epilepsy \| 1 C0035078 \| renal failure \| 1 C0013421 \| dystonia \| 1 C0027765 \| neurological disorder \| 1 C0022658 \| nephropathy \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:13) 7248 \| TSC1 \| CTD_human 7957 \| EPM2A \| CTD_human;GHR 57465 \| TBC1D24 \| CTD_human 5621 \| PRNP \| CTD_human 54982 \| CLN6 \| CTD_human 4758 \| NEU1 \| CTD_human 5274 \| SERPINI1 \| CTD_human 1476 \| CSTB \| GHR 26278 \| SACS \| CTD_human 3746 \| KCNC1 \| CTD_human 378884 \| NHLRC1 \| CTD_human;GHR 1822 \| ATN1 \| CTD_human 10939 \| AFG3L2 \| CTD_human
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:61) 2334 \| AFF2 \| 1.084 \| DISEASES 347 \| APOD \| 1.086 \| DISEASES 170302 \| ARX \| 1.377 \| DISEASES 427 \| ASAH1 \| 3.875 \| DISEASES 9140 \| ATG12 \| 1.167 \| DISEASES 1822 \| ATN1 \| 2.826 \| DISEASES 477 \| ATP1A2 \| 1.046 \| DISEASES 6315 \| ATXN8OS \| 2.565 \| DISEASES 2683 \| B4GALT1 \| 1.467 \| DISEASES 875 \| CBS \| 1.001 \| DISEASES 6792 \| CDKL5 \| 1.031 \| DISEASES 10715 \| CERS1 \| 3.199 \| DISEASES 1201 \| CLN3 \| 2.809 \| DISEASES 1203 \| CLN5 \| 2.176 \| DISEASES 5476 \| CTSA \| 1.575 \| DISEASES 1508 \| CTSB \| 2.215 \| DISEASES 1510 \| CTSE \| 1.488 \| DISEASES 1520 \| CTSS \| 3.118 \| DISEASES 1523 \| CUX1 \| 1.196 \| DISEASES 80331 \| DNAJC5 \| 1.644 \| DISEASES 114327 \| EFHC1 \| 3.557 \| DISEASES 1946 \| EFNA5 \| 1.415 \| DISEASES 7957 \| EPM2A \| 7.761 \| DISEASES 9852 \| EPM2AIP1 \| 3.032 \| DISEASES 122786 \| FRMD6 \| 1.702 \| DISEASES 2593 \| GAMT \| 2.377 \| DISEASES 2617 \| GARS \| 1.532 \| DISEASES 2632 \| GBE1 \| 4.314 \| DISEASES 2741 \| GLRA1 \| 1.832 \| DISEASES 2804 \| GOLGB1 \| 1.156 \| DISEASES 2938 \| GSTA1 \| 1.149 \| DISEASES 28996 \| HIPK2 \| 1.541 \| DISEASES 3309 \| HSPA5 \| 1.263 \| DISEASES 3736 \| KCNA1 \| 1.066 \| DISEASES 3786 \| KCNQ3 \| 2.727 \| DISEASES 154881 \| KCTD7 \| 5.006 \| DISEASES 9211 \| LGI1 \| 1.615 \| DISEASES 84823 \| LMNB2 \| 2.003 \| DISEASES 4204 \| MECP2 \| 1.001 \| DISEASES 64223 \| MLST8 \| 1.453 \| DISEASES 83876 \| MRO \| 2.025 \| DISEASES 51734 \| MSRB1 \| 2.438 \| DISEASES 4541 \| MT-ND6 \| 1.895 \| DISEASES 4566 \| MT-TK \| 4.79 \| DISEASES 27247 \| NFU1 \| 3.145 \| DISEASES 378884 \| NHLRC1 \| 7.758 \| DISEASES 10606 \| PAICS \| 1.964 \| DISEASES 51400 \| PPME1 \| 3.267 \| DISEASES 5509 \| PPP1R3D \| 3.587 \| DISEASES 56978 \| PRDM8 \| 2.981 \| DISEASES 9588 \| PRDX6 \| 1.113 \| DISEASES 144165 \| PRICKLE1 \| 4.341 \| DISEASES 5893 \| RAD52 \| 1.246 \| DISEASES 6230 \| RPS25 \| 3.182 \| DISEASES 26278 \| SACS \| 2.303 \| DISEASES 6324 \| SCN1B \| 1.329 \| DISEASES 6446 \| SGK1 \| 1.674 \| DISEASES 6635 \| SNRPE \| 1.435 \| DISEASES 10250 \| SRRM1 \| 1.801 \| DISEASES 9900 \| SV2A \| 2.04 \| DISEASES 22954 \| TRIM32 \| 1.66 \| DISEASES
Locus	(Waiting for update.)

Disease ID	385
Disease	progressive myoclonus epilepsy
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:1) HP:0002123 \| Myoclonus seizures
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:10) HP:0007269 \| Spinal muscle wasting \| 4 HP:0003202 \| Neurogenic muscle atrophy, especially in the lower limbs \| 4 HP:0001251 \| Ataxia \| 2 HP:0001336 \| Myoclonic jerks \| 2 HP:0100318 \| Lafora bodies \| 2 HP:0002133 \| Status epilepticus \| 1 HP:0000096 \| Glomerulosclerosis \| 1 HP:0000112 \| Nephropathy \| 1 HP:0001332 \| Dystonia \| 1 HP:0000083 \| Renal insufficiency \| 1

Disease ID	385
Disease	progressive myoclonus epilepsy
Manually Symptom	UMLS \| Name(Total Manually Symptoms:4) C1135207 \| ataxia C0085584 \| encephalopathies C0038220 \| status epilepticus C0014544 \| epileptic seizures
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:3) C0004134 \| ataxia \| 1 C0027066 \| myoclonus \| 1 C0038220 \| status epilepticus \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:0)
(Waiting for update.)

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0002123	Generalized myoclonic seizures	MP:0009358	environmentally induced seizures	seizure activity response due to changes in ambient habitat including room temperature, lighting, sounds, touching, and/ or moving cage

Mapped by homologous gene(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0002123	Generalized myoclonic seizures	MP:0020301	short tongue	decreased length of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor

Disease ID	385
Disease	progressive myoclonus epilepsy
Case	(Waiting for update.)

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