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:
expandGenetic Diseases, X-Linked (D040181)
Parent Node:
expandMachado-Joseph Disease (D017827)
..Starting node
..expandSpinocerebellar ataxia, X-linked, 3 (C537315)

       Child Nodes:



 Sister Nodes: 
..expandSpinocerebellar ataxia, X-linked, 3 (C537315)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:10529
Name:Spinocerebellar ataxia, X-linked, 3
Definition:
Alternative IDs:OMIM:301790
ParentIDs:MESH:D017827|MESH:D040181
TreeNumbers:C10.228.140.252.190.530.530/C537315 |C10.228.140.252.700.700.500/C537315 |C10.228.854.787.875.500/C537315 |C10.574.500.825.700.500/C537315 |C10.597.350.090.500.530.530/C537315 |C16.320.322/C537315 |C16.320.400.780.875.500/C537315
Synonyms:Ataxia-deafness syndrome X-linked |Ataxia-deafness syndrome, X-linked |SCAX3 |Schmidley syndrome |Spinocerebellar Ataxia, X-Linked 3
Slim Mappings:Genetic disease (inborn)|Nervous system disease
Reference: MedGen: C537315
MeSH: C537315
OMIM: 301790;

Genes:
Phenotypes
1 HP:0001419X-linked recessive inheritance
2 HP:0003593Infantile onset
3 HP:0001284Areflexia
4 HP:0001272Cerebellar atrophy
5 HP:0001522Death in infancy
6 HP:0000726Dementia
7 HP:0001310Dysmetria
8 HP:0002015Dysphagia
9 HP:0004881Episodic hypoventilation
10 HP:0004885Episodic respiratory distress
11 HP:0000565Esotropia
12 HP:0002020Gastroesophageal reflux
13 HP:0001290Generalized hypotonia
14 HP:0002171Gliosis
15 HP:0001263Global developmental delay
16 HP:0002599Head titubation
17 HP:0001265Hyporeflexia
18 HP:0001252Hypotonia
19 HP:0002311Incoordination
20 HP:0002080Intention tremor
21 HP:0001254Lethargy
22 HP:0001324Muscle weakness
23 HP:0002529Neuronal loss in central nervous system
24 HP:0000648Optic atrophy
25 HP:0000543Optic disc pallor
26 HP:0002205Recurrent respiratory infections
27 HP:0001250Seizure
28 HP:0000407Sensorineural hearing impairment
29 HP:0001257Spasticity
30 HP:0008757Unilateral vocal cord paralysis
31 HP:0002013Vomiting
Disease Causing ClinVar Variants