X-linked spinocerebellar ataxia type 3

General Information (adopted from Orphanet):

Synonyms, Signs: ATAXIA-DEAFNESS SYNDROME, X-LINKED
SCAX3
X-linked ataxia-deafness syndrome
Number of Symptoms 48
OrphanetNr: 85297
OMIM Id: 301790
ICD-10: G11.1
UMLs: C1844936
MeSH: C537315
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 5 cases [Orphanet]
Inheritance: X-linked recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: X-linked cerebellar ataxia
 -Rare genetic disease
 -Rare neurologic disease
X-linked syndromic intellectual deficit
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0000565) Esotropia 58 / 7739
2
(HPO:0000648) Optic atrophy 238 / 7739
3
(HPO:0000486) Strabismus 576 / 7739
4
(HPO:0000543) Optic disc pallor 67 / 7739
5
(HPO:0000407) Sensorineural hearing impairment Very frequent [Orphanet] 524 / 7739
6
(HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
7
(HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
8
(HPO:0001310) Dysmetria 76 / 7739
9
(HPO:0008757) Unilateral vocal cord paralysis 1 / 7739
10
(HPO:0001251) Ataxia 413 / 7739
11
(HPO:0001263) Global developmental delay 853 / 7739
12
(HPO:0002066) Gait ataxia Very frequent [Orphanet] 327 / 7739
13
(HPO:0002080) Intention tremor 44 / 7739
14
(HPO:0002015) Dysphagia 301 / 7739
15
(HPO:0000726) Dementia 131 / 7739
16
(HPO:0001250) Seizures 1245 / 7739
17
(HPO:0001284) Areflexia 198 / 7739
18
(HPO:0002599) Head titubation 7 / 7739
19
(HPO:0001257) Spasticity 251 / 7739
20
(HPO:0001265) Hyporeflexia 208 / 7739
21
(HPO:0001254) Lethargy 104 / 7739
22
(HPO:0002311) Incoordination 84 / 7739
23
(HPO:0002013) Vomiting 191 / 7739
24
(HPO:0002020) Gastroesophageal reflux 101 / 7739
25
(HPO:0004881) Episodic hypoventilation 1 / 7739
26
(HPO:0011947) Respiratory tract infection 28 / 7739
27
(HPO:0002205) Recurrent respiratory infections 254 / 7739
28
(HPO:0004885) Episodic respiratory distress 2 / 7739
29
(HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
30
(HPO:0001324) Muscle weakness 859 / 7739
31
(HPO:0010547) Muscle flaccidity 466 / 7739
32
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
33
(HPO:0001419) X-linked recessive inheritance 189 / 7739
34
(OMIM) Dysphagia, episodic 1 / 7739
35
(OMIM) Cerebellar dysfunction, progressive 1 / 7739
36
(OMIM) Neuronal loss and gliosis in the dentate nucleus 1 / 7739
37
(OMIM) Neuronal loss and gliosis in the inferior olives 1 / 7739
38
(HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
39
(OMIM) Choking, episodic 1 / 7739
40
(HPO:0001272) Cerebellar atrophy 197 / 7739
41
(OMIM) Intermittent, transient episodes of worsening of ataxia 1 / 7739
42
(HPO:0012795) Abnormality of the optic disc Very frequent [Orphanet] 187 / 7739
43
(OMIM) Vomiting, episodic 3 / 7739
44
(HPO:0002171) Gliosis 48 / 7739
45
(HPO:0003593) Infantile onset 249 / 7739
46
(HPO:0001522) Death in infancy 275 / 7739
47
(HPO:0002529) Neuronal loss in central nervous system 37 / 7739
48
(OMIM) Intermittent episodes associated with lethargy, vomiting 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Schmidley et al. (1987) described an X-linked disorder of the central nervous system characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy, and by a progressive course leading to death in ...