Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandIntellectual Disability (D008607)
Parent Node:
expandMuscle Spasticity (D009128)
Parent Node:
expandOptic Atrophy (D009896)
Parent Node:
expandSpinocerebellar Ataxias (D020754)
..Starting node
..expandSpastic Ataxia (C564815)

       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:10354
Name:Spastic Ataxia
Definition:
Alternative IDs:
ParentIDs:MESH:D008607|MESH:D009128|MESH:D009896|MESH:D020754
TreeNumbers:C05.651.512/C564815 |C10.228.140.252.190.530/C564815 |C10.228.140.252.700.700/C564815 |C10.228.854.787.875/C564815 |C10.292.700.225/C564815 |C10.574.500.825.700/C564815 |C10.597.350.090.500.530/C564815 |C10.597.606.643/C564815 |C10.597.613.550.550/C564815 |C11.64
Synonyms:
Slim Mappings:Eye disease|Genetic disease (inborn)|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms
Reference: MedGen: C564815
MeSH: C564815
OMIM: 270500;

Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0003621Juvenile onset
3 HP:0011448Ankle clonus
4 HP:0003487Babinski sign
5 HP:0002136Broad-based gait
6 HP:0002312Clumsiness
7 HP:0001260Dysarthria
8 HP:0001310Dysmetria
9 HP:0001263Global developmental delay
10 HP:0001249Intellectual disability
11 HP:0000639Nystagmus
12 HP:0000648Optic atrophy
13 HP:0009830Peripheral neuropathyHP:0040282
14 HP:0002370Poor coordination
15 HP:0003676Progressive
16 HP:0007663Reduced visual acuity
17 HP:0002650Scoliosis
18 HP:0000407Sensorineural hearing impairmentHP:0040282
19 HP:0002497Spastic ataxia
20 HP:0001257Spasticity
21 HP:0001337Tremor
22 HP:0000505Visual impairment
Disease Causing ClinVar Variants