MSeqDR Mitochondrial Disease Portal


 
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Disease Browser
Parent Node:
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Epilepsy (D004827)
Parent Node:
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Mitochondrial Diseases (D028361)
Parent Node:
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Spinocerebellar Ataxias (D020754)
..Starting node
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Spinocerebellar Ataxia with Epilepsy (C564395)

       Child Nodes:



 Sister Nodes: 
..expandAnemia, sideroblastic spinocerebellar ataxia (C536358)
..expandAtaxia Telangiectasia (D001260) Child6
..expandChorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism (C565850)
..expandGemignani syndrome (C537678)
..expandMachado-Joseph Disease (D017827) Child1
..expandMITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE) (OMIM:271245)  LSDB  L: 00036;
..expandSpastic Ataxia (C564815)
..expandSpastic ataxia Charlevoix-Saguenay type (C536787)
..expandSpinocerebellar Ataxia 10 (C566874)
..expandSpinocerebellar Ataxia 11 (C565772)
..expandSpinocerebellar Ataxia 12 (C565790)
..expandSpinocerebellar Ataxia 15 (C564685)
..expandSpinocerebellar Ataxia 17 (C564616)
..expandSpinocerebellar ataxia 20 (C537199)
..expandSpinocerebellar ataxia 25 (C537202)
..expandSpinocerebellar ataxia 26 (C537203)
..expandSpinocerebellar ataxia 30 (C575214)
..expandSpinocerebellar Ataxia 31 (C566146)
..expandSpinocerebellar Ataxia And Plaque-Like Deposits (C566671)
..expandSpinocerebellar Ataxia with Dysmorphism (C564802)
..expandSpinocerebellar Ataxia with Epilepsy (C564395)
..expandSpinocerebellar Ataxia With Rigidity And Peripheral Neuropathy (C566669)
..expandSpinocerebellar Ataxia, Autosomal Recessive 7 (C563753)
..expandSpinocerebellar Ataxia, Autosomal Recessive 8 (C565188)
..expandSpinocerebellar Ataxia, Autosomal Recessive 9 (C567436)  LSDB  L: 00443;
..expandSpinocerebellar Ataxia, X-Linked 1 (C563134)
..expandSpinocerebellar Ataxia, X-Linked 5 (C567478)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:10525
Name:Spinocerebellar Ataxia with Epilepsy
Definition:
Alternative IDs:
ParentIDs:MESH:D004827|MESH:D020754|MESH:D028361
TreeNumbers:C10.228.140.252.190.530/C564395 |C10.228.140.252.700.700/C564395 |C10.228.140.490/C564395 |C10.228.854.787.875/C564395 |C10.574.500.825.700/C564395 |C10.597.350.090.500.530/C564395 |C16.320.400.780.875/C564395 |C18.452.660/C564395
Synonyms:Myoclonic Epilepsy Myopathy Sensory Ataxia
Slim Mappings:Genetic disease (inborn)|Metabolic disease|Nervous system disease
Reference: MedGen: C564395
MeSH: C564395
OMIM:
MSeqDR LSDB:  
Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal