DiseaseID 11140
拉福拉病
disease
NCI2016_02D:A rare, fatal autosomal recessive inherited disorder caused by mutations in the genes EPM2A and EPM2b. It is characterized by the presence of cytoplasmic inclusion bodies called Lafora bodies in many cells of
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Disease: 1Symptom: 3Target: 17Links: 27
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 11140
- Core Entity Id
- 68480
- Source Entity Count
- 1
- Preferred Name
- Lafora Disease
- Name Cn
- 拉福拉病
- Name Pinyin
- La Fu La Bing
- Name En
- Lafora Disease
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesNervous System Diseases
- Do Class
- disease of anatomical entity; genetic disease
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesNervous System Diseases
- Hpo Class Name
- Do Class Name
- genetic disease; disease of anatomical entity
- Disease Definition
- NCI2016_02D:A rare, fatal autosomal recessive inherited disorder caused by mutations in the genes EPM2A and EPM2b. It is characterized by the presence of cytoplasmic inclusion bodies called Lafora bodies in many cells of the body including neurons, muscle cells, and liver cells. The Lafora bodies contain mucopolysaccharides. Signs and symptoms include seizures, myoclonus, ataxia, and dementia.|MSH2017_2016_08_12: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)
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Lafora Disease
Role
preferred
Name
Epilepsy, Progressive Myoclonic 2B
Role
preferred
Name
Myoclonic Epilepsy Of Lafora
Role
preferred
Name
Lafora Body Disease, Late Onset
Role
preferred
Name
EPILEPSY, PROGRESSIVE MYOCLONIC, 2A
Role
alias
Name
EPILEPSY, PROGRESSIVE MYOCLONIC, 2B
Role
alias
Name
EPM2
Role
alias
Name
EPM2A
Role
alias
Name
EPM2B
Role
alias
Name
LAFORA BODY DISEASE
Role
alias
Name
LBD
Role
alias
Name
MELF
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS011460HBDIS011461HBDIS016750
Me Sh
D020192
Omim
254780
Umls
C0751783C1850764
Sym Map
SMDE00592SMDE08412SMDE10272
Do Class
DOID:630DOID:7
Dis Ge Net
C0751783C0751784C1850764
Umls Sty
T047
Me Sh Class
C10C16
Etcm Disease
Myoclonic Epilepsy of Lafora
Tcmbank Disease
136342597528094
Itcmdb Generated
ITX-DISEASE-DA21A167E2D8ITX-DISEASE-FF2E0A55F7DA
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v2
Suppress
0
Page Title
Disease Myoclonic Epilepsy of Lafora Details page
Do Class Name
genetic disease; disease of anatomical entity
Disease Type
disease
Do Disease Class
disease of anatomical entity; genetic disease
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Myoclonic Epilepsy of Lafora
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Neuronal diseases
Disease Definition
NCI2016_02D:A rare, fatal autosomal recessive inherited disorder caused by mutations in the genes EPM2A and EPM2b. It is characterized by the presence of cytoplasmic inclusion bodies called Lafora bodies in many cells of the body including neurons, muscle cells, and liver cells. The Lafora bodies contain mucopolysaccharides. Signs and symptoms include seizures, myoclonus, ataxia, and dementia.|MSH2017_2016_08_12: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)
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesNervous System Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesNervous System Diseases
Umls Semantic Type Name
Disease or Syndrome