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:
expandMuscle Rigidity (D009127)
Parent Node:
expandPeripheral Nervous System Diseases (D010523)
Parent Node:
expandSpinocerebellar Ataxias (D020754)
..Starting node
..expandSpinocerebellar Ataxia With Rigidity And Peripheral Neuropathy (C566669)

       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:10526
Name:Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Definition:
Alternative IDs:
ParentIDs:MESH:D009127|MESH:D010523|MESH:D020754
TreeNumbers:C05.651.504/C566669 |C10.228.140.252.190.530/C566669 |C10.228.140.252.700.700/C566669 |C10.228.854.787.875/C566669 |C10.574.500.825.700/C566669 |C10.597.350.090.500.530/C566669 |C10.597.613.550.500/C566669 |C10.668.829/C566669 |C16.320.400.780.875/C566669 |C23.88
Synonyms:
Slim Mappings:Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Signs and symptoms
Reference: MedGen: C566669
MeSH: C566669
OMIM: 183050;

Genes:
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0001251Ataxia
3 HP:0002067Bradykinesia
4 HP:0000762Decreased nerve conduction velocity
5 HP:0001260Dysarthria
6 HP:0002380Fasciculations
7 HP:0001271Polyneuropathy
8 HP:0002063Rigidity
9 HP:0003202Skeletal muscle atrophy
10 HP:0001257Spasticity
Disease Causing ClinVar Variants