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	lafora disease

Disease ID	229
Disease	lafora disease
Definition	A form of stimulus sensitive myoclonic epilepsy inherited as an autosomal recessive condition. The most common presenting feature is a single seizure in the second decade of life. This is followed by progressive myoclonus, myoclonic seizures, tonic-clonic seizures, focal occipital seizures, intellectual decline, and severe motor and coordination impairments. Most affected individuals do not live past the age of 25 years. Concentric amyloid (Lafora) bodies are found in neurons, liver, skin, bone, and muscle (From Menkes, Textbook of Childhood Neurology, 5th ed, pp111-110)
Synonym	disease, lafora disease, lafora body disorder, lafora body epilepsy progressive myoclonic 2 epilepsy, progressive myoclonic 2a epilepsy, progressive myoclonic, 2a epilepsy, progressive myoclonic, lafora epm2 epm2a lafora body dis lafora body disease lafora body disorder lafora dis lafora disease (disorder) lafora disease [disease/finding] lafora myoclonic epilepsy lafora progressive myoclonic epilepsy lafora progressive myoclonus epilepsy lafora type progressive myoclonic epilepsy lafora's disease lbd melf myoclonic epilepsy of lafora progressive myoclonic epilepsy type 2 progressive myoclonic epilepsy, lafora progressive myoclonic epilepsy, lafora type progressive myoclonus epilepsy, lafora type
Orphanet	ORPHANET:501
OMIM	OMIM:254780 OMIM:607566
DOID	DOID:3534
UMLS	C0751783
MeSH	D020192
SNOMED-CT	SNOMEDCT_US_2016_09_01:230425004
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:4) C0751783 \| lafora disease \| 3 C0014544 \| epilepsy \| 1 C0751778 \| progressive myoclonic epilepsy \| 1 C0001418 \| adenocarcinoma \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) 7957 \| EPM2A \| CLINVAR;CTD_human;GHR;ORPHANET;UNIPROT 378884 \| NHLRC1 \| CLINVAR;CTD_human;GHR;ORPHANET;UNIPROT
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) 7957 \| EPM2A \| CIPHER;CTD_human 378884 \| NHLRC1 \| CIPHER;CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:32) 9140 \| ATG12 \| 1.575 \| DISEASES 2683 \| B4GALT1 \| 1.874 \| DISEASES 26580 \| BSCL2 \| 1.283 \| DISEASES 1201 \| CLN3 \| 1.729 \| DISEASES 1203 \| CLN5 \| 1.67 \| DISEASES 5476 \| CTSA \| 1.068 \| DISEASES 7957 \| EPM2A \| 8.128 \| DISEASES 9852 \| EPM2AIP1 \| 3.439 \| DISEASES 122786 \| FRMD6 \| 2.109 \| DISEASES 2632 \| GBE1 \| 4.574 \| DISEASES 2804 \| GOLGB1 \| 1.563 \| DISEASES 28996 \| HIPK2 \| 1.949 \| DISEASES 3309 \| HSPA5 \| 1.67 \| DISEASES 3785 \| KCNQ2 \| 1.043 \| DISEASES 3786 \| KCNQ3 \| 1.557 \| DISEASES 4204 \| MECP2 \| 1.409 \| DISEASES 83876 \| MRO \| 2.432 \| DISEASES 4566 \| MT-TK \| 3.875 \| DISEASES 27247 \| NFU1 \| 3.552 \| DISEASES 378884 \| NHLRC1 \| 8.108 \| DISEASES 5509 \| PPP1R3D \| 3.994 \| DISEASES 56978 \| PRDM8 \| 3.389 \| DISEASES 9588 \| PRDX6 \| 1.521 \| DISEASES 6230 \| RPS25 \| 3.589 \| DISEASES 26278 \| SACS \| 1.502 \| DISEASES 6324 \| SCN1B \| 1.736 \| DISEASES 6446 \| SGK1 \| 2.081 \| DISEASES 6513 \| SLC2A1 \| 1.112 \| DISEASES 10250 \| SRRM1 \| 2.208 \| DISEASES 9900 \| SV2A \| 1.49 \| DISEASES 54209 \| TREM2 \| 1.215 \| DISEASES 22954 \| TRIM32 \| 2.068 \| DISEASES
Locus	Symbol \| Locus(Total Locus:2) EPM2A \| 6q24.3 NHLRC1 \| 6p22.3

Disease ID	229
Disease	lafora disease
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:5) HP:0002180 \| Neurodegeneration \| 2 HP:0100318 \| Lafora bodies \| 2 HP:0003200 \| Ragged-red fibers \| 1 HP:0001336 \| Myoclonic jerks \| 1 HP:0001250 \| Seizures \| 1

Disease ID	229
Disease	lafora disease
Manually Symptom	UMLS \| Name(Total Manually Symptoms:4) C0751778 \| progressive myoclonus epilepsy C0233763 \| visual hallucinations C0036572 \| seizures C0027066 \| myoclonus
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C0027066 \| myoclonus \| 1

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

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

All Snps(Total Genotypes:17)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs104893950	NA	7957	EPM2A	umls:C0751783	CLINVAR	NA	0.588465178	NA	EPM2A	6	145627691	G	A
rs121917876	NA	378884	NHLRC1	umls:C0751783	CLINVAR	NA	0.581397758	NA	NHLRC1	6	18122014	A	T
rs137852915	NA	7957	EPM2A	umls:C0751783	CLINVAR	NA	0.588465178	NA	EPM2A	6	145686276	G	A
rs137852916	NA	7957	EPM2A	umls:C0751783	CLINVAR	NA	0.588465178	NA	EPM2A	6	145635451	C	T
rs137852917	NA	7957	EPM2A	umls:C0751783	CLINVAR	NA	0.588465178	NA	EPM2A	6	145627577	C	T,A
rs200595273	16021330	378884	NHLRC1	umls:C0751783	UNIPROT	Mutations in the NHLRC1 gene are the common cause for Lafora disease in the Japanese population.	0.581397758	2005	NHLRC1	6	18122129	A	G
rs28940575	12958597	378884	NHLRC1	umls:C0751783	UNIPROT	We previously discovered that mutations in EPM2A cause Lafora disease.	0.581397758	2003	NHLRC1	6	18122531	A	T
rs28940575	NA	378884	NHLRC1	umls:C0751783	CLINVAR	NA	0.581397758	NA	NHLRC1	6	18122531	A	T
rs28940576	18256682	378884	NHLRC1	umls:C0751783	BeFree	Lafora disease (EPM2), resulting from a homozygous missense mutation in EPM2B (NHLRC1; c205C>G; Pro69Ala).	0.581397758	2008	NHLRC1	6	18122402	G	C
rs28940576	21505799	378884	NHLRC1	umls:C0751783	UNIPROT	Lafora progressive myoclonus epilepsy: NHLRC1 mutations affect glycogen metabolism.	0.581397758	2011	NHLRC1	6	18122402	G	C
rs28940576	NA	378884	NHLRC1	umls:C0751783	CLINVAR	NA	0.581397758	NA	NHLRC1	6	18122402	G	C
rs28940576	19744044	378884	NHLRC1	umls:C0751783	BeFree	Genetic testing revealed a homozygous missense mutation (c.205C > G, P69A) in the EPM2B (NHLRC1) gene, confirming the diagnosis of progressive myoclonic epilepsy Lafora-type.	0.581397758	2009	NHLRC1	6	18122402	G	C
rs587776542	NA	378884	NHLRC1	umls:C0751783	CLINVAR	NA	0.581397758	NA	NHLRC1	6	18122138	CT	-
rs587776553	NA	7957	EPM2A	umls:C0751783	CLINVAR	NA	0.588465178	NA	EPM2A	6	145686263	-	T
rs587776554	NA	7957	EPM2A	umls:C0751783	CLINVAR	NA	0.588465178	NA	EPM2A	6	145627462	-	A
rs769301934	NA	378884	NHLRC1	umls:C0751783	CLINVAR	NA	0.581397758	NA	NHLRC1	6	18122171	C	T
rs794726964	NA	378884	NHLRC1	umls:C0751783	CLINVAR	NA	0.581397758	NA	NHLRC1	6	18121943	C	A

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

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

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	229
Disease	lafora disease
Case	(Waiting for update.)

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