| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (27.3%) |
1303560 |
[Polysaccharide amylopectin-type storage myopathy]. Calore EE, Pellissier JF, Figarella-Branger D, de Barsy T, Pouget J, Serratrice G. Rev Neurol (Paris). 1992;148(11):696-703. |
| Cardiomyopathy Myopathy Limb-girdle muscle weakness | ||
| Females Homo sapiens Mitochondria, Muscle Muscle Tissue Myopathy Polysaccharides | ||
| 2 (20.4%) |
24612676 |
C9ORF72 expansion does not affect the phenotype in Nasu-Hakola disease with the DAP12 mutation. Solje E, Hartikainen P, Valori M, Vanninen R, Tiihonen J, Hakola P, Tienari PJ, Remes AM. Neurobiol Aging. 2014;35(7):1780.e13-7. |
| Dementia Pathologic fracture | ||
| C9orf72 EPM2A TREM2 TYROBP | ||
| Adaptor Proteins, Signal Transducing Adult Aged, 80 and over C9orf72 Protein DNA Repeat Expansion Genetic Association Studies Homo sapiens Lipodystrophy Male Membrane Proteins Mutation Osteochondrodysplasias Phenotype Proteins Sibling Subacute Sclerosing Panencephalitis | ||
| 3 (17.5%) |
30498646 (6257626) |
Lafora Disease Masquerading as Hepatic Dysfunction. Inayat F, Ullah W, Lodhi HT, Khan ZH, Ilyas G, Ali NS, Abdullah HMA. Cureus. 2018;10(8):e3197. |
| Dementia Difficulty walking | ||
| SERPINA1 | ||
| 3 (17.5%) |
27632409 |
Progressive Myoclonus Epilepsy in Congenital Generalized Lipodystrophy type 2: Report of 3 cases and literature review. Opri R, Fabrizi GM, Cantalupo G, Ferrarini M, Simonati A, Dalla Bernardina B, Darra F. Seizure. 2016;42:1-6. |
| Congenital generalized lipodystrophy | ||
| c|DEL|828_829|AA c|DUP|782_783|G| | ||
| Brain Carrier Proteins Child Differential Diagnosis Fatal Outcome Females GTP-Binding Protein gamma Subunits Homo sapiens Male Myoclonic Epilepsies, Progressive Protein Tyrosine Phosphatases, Non-Receptor Skin | ||
| 3 (17.5%) |
19951852 |
Lafora disease and congenital generalized lipodystrophy: a case report. Tseng CF, Ho CS, Chiu NC, Lin SP, Tzen CY, Wu YH. Kaohsiung J Med Sci. 2009;25(12):663-8. |
| Seizure Congenital generalized lipodystrophy | ||
| EPM2A NHLRC1 | ||
| Carrier Proteins Child Homo sapiens Lafora Disease Lipodystrophy Male Protein Tyrosine Phosphatases, Non-Receptor | ||
| 3 (17.5%) |
2456316 |
Diagnosis of Lafora disease by skin biopsy. White JW Jr, Gomez MR. J Cutan Pathol. 1988;15(3):171-5. |
| Dementia Rimmed vacuoles | ||
| Biopsy Eccrine Glands Electron Microscopy Glucans Homo sapiens Inclusion Bodies Male Myoclonic Epilepsy Staining and Labeling Sweat Glands | ||
| 7 (4.0%) |
30701169 |
Diabetes Mellitus in a Patient With Lafora Disease: Possible Links With Pancreatic beta-Cell Dysfunction and Insulin Resistance. Nicolescu RC, Al-Khawaga S, Minassian BA, Hussain K. Front Pediatr. 2018;6:424. |
| Diabetes mellitus | ||
| EPM2A INS NHLRC1 | ||
| c|SUB|C|386|A;RS#:750465793 p|SUB|P|129|H;RS#:750465793 | ||
| 7 (4.0%) |
30083360 (6043589) |
A recurrent homozygous NHLRC1 variant in siblings with Lafora disease. Araya N, Takahashi Y, Shimono M, Fukuda T, Kato M, Nakashima M, Matsumoto N, Saitsu H. Hum Genome Var. 2018;5:16. |
| Lafora bodies | ||
| NHLRC1 | ||
| 7 (4.0%) |
30041081 |
A novel EPM2A mutation yields a slow progression form of Lafora disease. Garcia-Gimeno MA, Rodilla-Ramirez PN, Viana R, Salas-Puig X, Brewer MK, Gentry MS, Sanz P. Epilepsy Res. 2018;145:169-177. |
| Neurodegeneration | ||
| p|SUB|N|163|D;RS#:777767978 p|SUB|Y|112|X | ||
| Adult Disease Progression Females Gene Expression HEK293 Cells Homo sapiens Immunoprecipitation Lafora Disease Models, Molecular Mutagenesis, Site-Directed Mutation Phosphoric Monoester Hydrolases Protein Tyrosine Phosphatases, Non-Receptor Transfection | ||
| 7 (4.0%) |
28556688 |
Severe and rapidly-progressive Lafora disease associated with NHLRC1 mutation: a case report. Casciato S, Gambardella S, Mascia A, Quarato PP, D'Aniello A, Ackurina Y, Albano V, Fornai F, Scala S, Di Gennaro G. Int J Neurosci. 2017;127(12):1150-1153. |
| Dementia | ||
| EPM2A NHLRC1 | ||
| Carrier Proteins Homo sapiens Lafora Disease Male |
Total: 35
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0100318 | Lafora bodies | Obligate (100%) |
| HP:0001250 | Seizures | Very frequent (99-80%) |
| HP:0000712 | Emotional lability | Frequent (79-30%) |
| HP:0000716 | Depressivity | Frequent (79-30%) |
| HP:0000726 | Dementia | Frequent (79-30%) |
| HP:0001251 | Ataxia | Frequent (79-30%) |
| HP:0001257 | Spasticity | Frequent (79-30%) |
| HP:0001260 | Dysarthria | Frequent (79-30%) |
| HP:0001268 | Mental deterioration | Frequent (79-30%) |
| HP:0001288 | Gait disturbance | Frequent (79-30%) |
| HP:0001289 | Confusion | Frequent (79-30%) |
| HP:0001312 | Giant somatosensory evoked potentials | Frequent (79-30%) |
| HP:0002100 | Recurrent aspiration pneumonia | Frequent (79-30%) |
| HP:0002123 | Generalized myoclonic seizures | Frequent (79-30%) |
| HP:0002133 | Status epilepticus | Frequent (79-30%) |
| HP:0002315 | Headache | Frequent (79-30%) |
| HP:0002367 | Visual hallucinations | Frequent (79-30%) |
| HP:0002521 | Hypsarrhythmia | Frequent (79-30%) |
| HP:0002540 | Inability to walk | Frequent (79-30%) |
| HP:0025357 | Erratic myoclonus | Frequent (79-30%) |
| HP:0040288 | Nasogastric tube feeding | Frequent (79-30%) |
| HP:0001336 | Myoclonus | Occasional (29-5%) |
| HP:0001399 | Hepatic failure | Occasional (29-5%) |
| HP:0002069 | Generalized tonic-clonic seizures | Occasional (29-5%) |
| HP:0002121 | Absence seizure | Occasional (29-5%) |
| HP:0002360 | Sleep disturbance | Occasional (29-5%) |
| HP:0002384 | Focal impaired awareness seizure | Occasional (29-5%) |
| HP:0007270 | Atypical absence seizure | Occasional (29-5%) |
| HP:0007334 | Generalized tonic-clonic seizures with focal onset | Occasional (29-5%) |
| HP:0007359 | Focal-onset seizure | Occasional (29-5%) |
| HP:0007537 | Severe photosensitivity | Occasional (29-5%) |
| HP:0010819 | Atonic seizures | Occasional (29-5%) |
| HP:0012444 | Brain atrophy | Occasional (29-5%) |
| HP:0025121 | Simple partial occipital seizures | Occasional (29-5%) |
| HP:0031358 | Vegetative state | Occasional (29-5%) |
Total: 18
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0100318 | Lafora bodies | 12 |
| HP:0001336 | Myoclonus | 8 |
| HP:0000726 | Dementia | 5 |
| HP:0001250 | Seizures | 3 |
| HP:0001251 | Ataxia | 2 |
| HP:0100543 | Cognitive impairment | 2 |
| HP:0000618 | Blindness | 1 |
| HP:0000855 | Insulin resistance | 1 |
| HP:0001268 | Mental deterioration | 1 |
| HP:0001405 | Periportal fibrosis | 1 |
| HP:0002133 | Status epilepticus | 1 |
| HP:0002180 | Neurodegeneration | 1 |
| HP:0002353 | EEG abnormality | 1 |
| HP:0002835 | Aspiration | 1 |
| HP:0009059 | Congenital generalized lipodystrophy | 1 |
| HP:0011675 | Arrhythmia | 1 |
| HP:0012047 | Hemeralopia | 1 |
| HP:0031358 | Vegetative state | 1 |