Hearing Loss Disease Portal


 
Switch to table view
Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandSpinocerebellar Ataxias (D020754)
..Starting node
..expandSpinocerebellar Ataxia 12 (C565790)

       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:10494
Name:Spinocerebellar Ataxia 12
Definition:
Alternative IDs:OMIM:604326
ParentIDs:MESH:D020754
TreeNumbers:C10.228.140.252.190.530/C565790 |C10.228.140.252.700.700/C565790 |C10.228.854.787.875/C565790 |C10.574.500.825.700/C565790 |C10.597.350.090.500.530/C565790 |C16.320.400.780.875/C565790
Synonyms:SCA12
Slim Mappings:Genetic disease (inborn)|Nervous system disease
Reference: MedGen: C565790
MeSH: C565790
OMIM: 604326;

Genes: PPP2R2B;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0000496Abnormality of eye movement
3 HP:0002345Action tremor
4 HP:0000739Anxiety
5 HP:0002530Axial dystonia
6 HP:0001272Cerebellar atrophy
7 HP:0002120Cerebral cortical atrophy
8 HP:0000746Delusions
9 HP:0000726Dementia
10 HP:0000716Depression
11 HP:0001260Dysarthria
12 HP:0002075Dysdiadochokinesis
13 HP:0001310Dysmetria
14 HP:0000317Facial myokymia
15 HP:0002346Head tremor
16 HP:0001347Hyperreflexia
17 HP:0001300Parkinsonism
18 HP:0002073Progressive cerebellar ataxia
19 HP:0007141Sensorimotor neuropathy
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_181675.3(PPP2R2B):c.27_29CAG(7_28) (p.Ser17_Ser19del)5521PPP2R2BPathogenic193922942RCV000005966; NMedGen:C1858501,OMIM:604326,ORPHA:987625146258292146258294NM_181675.3:c.27_29CAG(7_28)NP_858061.2:p.Ser17_Ser19delOMIM Allelic Variant:604325.0001C1858501 604326 Spinocerebellar ataxia 12