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Parent Node:
expandSpinocerebellar Ataxias (D020754)
..Starting node
..expandSpinocerebellar Ataxia 11 (C565772)

       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)
..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)
..expandSpinocerebellar Ataxia, X-Linked 1 (C563134)
..expandSpinocerebellar Ataxia, X-Linked 5 (C567478)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:10493
Name:Spinocerebellar Ataxia 11
Definition:
Alternative IDs:OMIM:604432
ParentIDs:MESH:D020754
TreeNumbers:C10.228.140.252.190.530/C565772 |C10.228.140.252.700.700/C565772 |C10.228.854.787.875/C565772 |C10.574.500.825.700/C565772 |C10.597.350.090.500.530/C565772 |C16.320.400.780.875/C565772
Synonyms:SCA11
Slim Mappings:Genetic disease (inborn)|Nervous system disease
Reference: MedGen: C565772
MeSH: C565772
OMIM: 604432;

Genes: TTBK2;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0003581Adult onset
3 HP:0001272Cerebellar atrophy
4 HP:0001260Dysarthria
5 HP:0001347Hyperreflexia
6 HP:0000639Nystagmus
7 HP:0002073Progressive cerebellar ataxia
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_173500.3(TTBK2):c.1329dupA (p.Arg444Thrfs)146057TTBK2Pathogenic80356538RCV000000895; NMedGen:C1858351,OMIM:604432,ORPHA:98767154306930943069309NM_173500.3:c.1329dupANP_775771.3:p.Arg444ThrfsNC_000015.9:g.43069309dupTOMIM Allelic Variant:611695.0001C1858351 604432 Spinocerebellar ataxia 11
NM_173500.3(TTBK2):c.1306_1307delGA (p.Asp436Tyrfs)146057TTBK2Pathogenic318240735RCV000034277; NMedGen:C1858351,OMIM:604432,ORPHA:98767154306933143069332NM_173500.3:c.1306_1307delGANP_775771.3:p.Asp436TyrfsNC_000015.9:g.43069331_43069332delTC-C1858351 604432 Spinocerebellar ataxia 11
NM_173500.3(TTBK2):c.1284_1285delAG (p.Glu429Aspfs)146057TTBK2Pathogenic80356539RCV000000896; NMedGen:C1858351,OMIM:604432,ORPHA:98767154306935343069354NM_173500.3:c.1284_1285delAGNP_775771.3:p.Glu429AspfsNC_000015.9:g.43069353_43069354delCTOMIM Allelic Variant:611695.0002C1858351 604432 Spinocerebellar ataxia 11