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Parent Node:
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Spinocerebellar Ataxias (D020754)
..Starting node
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Spinocerebellar ataxia 26 (C537203)

       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 13 (C537195)
..expandSpinocerebellar ataxia 14 (C537196)
..expandSpinocerebellar Ataxia 15 (C564685)
..expandSpinocerebellar Ataxia 17 (C564616)
..expandSpinocerebellar ataxia 20 (C537199)
..expandSpinocerebellar ataxia 25 (C537202)
..expandSpinocerebellar ataxia 26 (C537203)
..expandSpinocerebellar ataxia 28 (C537205)  LSDB  L: 00498;
..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 1 (C537308)
..expandSpinocerebellar Ataxia, Autosomal Recessive 7 (C563753)
..expandSpinocerebellar Ataxia, Autosomal Recessive 8 (C565188)
..expandSpinocerebellar Ataxia, Autosomal Recessive 9 (C567436)
..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:11553
Name:Spinocerebellar ataxia 26
Definition:
Alternative IDs:DO:DOID:0050975|OMIM:609306
ParentIDs:MESH:D020754
TreeNumbers:C10.228.140.252.190.530/C537203 |C10.228.140.252.700.700/C537203 |C10.228.854.787.875/C537203 |C10.574.500.825.700/C537203 |C10.597.350.090.500.530/C537203 |C16.320.400.780.875/C537203
Synonyms:SCA26 |Spinocerebellar ataxia type 26
Slim Mappings:Genetic disease (inborn)|Nervous system disease
Reference: MedGen: C537203
MeSH: C537203
OMIM: 609306;
MSeqDR LSDB:  
Genes: EEF2;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0003581Adult onset
3 HP:0001272Cerebellar atrophy
4 HP:0001260Dysarthria
NAMDC:  Dysarthria
5 HP:0000641Dysmetric saccades
6 HP:0002066Gait ataxia
7 HP:0001151Impaired horizontal smooth pursuit
8 HP:0002311Incoordination
9 HP:0002070Limb ataxia
10 HP:0000639Nystagmus
11 HP:0003677Slow progression
12 HP:0002078Truncal ataxia
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_001961.4(EEF2):c.2241G>A (p.Val747=)1938EEF2Conflicting interpretations of pathogenicityrs772173797RCV000711580|RCV001809777; NMedGen:CN517202|MONDO:MONDO:0012246,MedGen:C1836395,OMIM:609306, Orphanet:1011121939774353977435CTNC_000019.9:g.3977435C>T-
NM_001961.4(EEF2):c.2190T>C (p.Tyr730=)1938EEF2Benignrs36527RCV000116940|RCV000991947|RCV001657724; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0012246,MedGen:C1836395,OMIM:609306, Orphanet:1011121939774863977486AGNC_000019.9:g.3977486A>GClinGen:CA214488CN169374 not specified;
NM_001961.4(EEF2):c.1979A>G (p.Asn660Ser)1938EEF2not providedrs945307250RCV000509395; NMONDO:MONDO:0012246,MedGen:C1836395,OMIM:609306, Orphanet:1011121939779053977905TCNC_000019.9:g.3977905T>CClinGen:CA304442033C1836395 609306 Spinocerebellar ataxia 26;
NM_001961.4(EEF2):c.1787C>A (p.Pro596His)1938EEF2Pathogenicrs587777052RCV000056312|RCV001288169; NMONDO:MONDO:0012246,MedGen:C1836395,OMIM:609306, Orphanet:101112|MedGen:CN5172021939780973978097GT19:g.3978097G>TClinGen:CA264797,UniProtKB:P13639#VAR_070792,OMIM:130610.0001C1836395 609306 Spinocerebellar ataxia 26;
NM_001961.4(EEF2):c.1632T>C (p.His544=)1938EEF2Benignrs36526RCV000116939|RCV000991944|RCV001657723; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0012246,MedGen:C1836395,OMIM:609306, Orphanet:1011121939794083979408AGNC_000019.9:g.3979408A>GClinGen:CA214486CN169374 not specified;
NM_001961.4(EEF2):c.1150+15T>C1938EEF2Benign-1RCV001661269|RCV001694150; NMONDO:MONDO:0012246,MedGen:C1836395,OMIM:609306, Orphanet:101112|MedGen:CN5172021939808243980824AG3980824-
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