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
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ICD-10: |
G11.1 |
UMLs: |
C1844936 |
MeSH: |
C537315 |
MedDRA: |
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Snomed: |
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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:
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(HPO:0000565) | Esotropia | 58 / 7739 | ||||
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(HPO:0000648) | Optic atrophy | 238 / 7739 | ||||
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(HPO:0000486) | Strabismus | 576 / 7739 | ||||
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(HPO:0000543) | Optic disc pallor | 67 / 7739 | ||||
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(HPO:0000407) | Sensorineural hearing impairment | Very frequent [Orphanet] | 524 / 7739 | |||
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(HPO:0008625) | Severe sensorineural hearing impairment | 150 / 7739 | ||||
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(HPO:0008527) | Congenital sensorineural hearing impairment | 165 / 7739 | ||||
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(HPO:0001310) | Dysmetria | 76 / 7739 | ||||
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(HPO:0008757) | Unilateral vocal cord paralysis | 1 / 7739 | ||||
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(HPO:0001251) | Ataxia | 413 / 7739 | ||||
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(HPO:0001263) | Global developmental delay | 853 / 7739 | ||||
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(HPO:0002066) | Gait ataxia | Very frequent [Orphanet] | 327 / 7739 | |||
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(HPO:0002080) | Intention tremor | 44 / 7739 | ||||
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(HPO:0002015) | Dysphagia | 301 / 7739 | ||||
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(HPO:0000726) | Dementia | 131 / 7739 | ||||
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(HPO:0001250) | Seizures | 1245 / 7739 | ||||
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(HPO:0001284) | Areflexia | 198 / 7739 | ||||
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(HPO:0002599) | Head titubation | 7 / 7739 | ||||
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(HPO:0001257) | Spasticity | 251 / 7739 | ||||
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(HPO:0001265) | Hyporeflexia | 208 / 7739 | ||||
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(HPO:0001254) | Lethargy | 104 / 7739 | ||||
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(HPO:0002311) | Incoordination | 84 / 7739 | ||||
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(HPO:0002013) | Vomiting | 191 / 7739 | ||||
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(HPO:0002020) | Gastroesophageal reflux | 101 / 7739 | ||||
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(HPO:0004881) | Episodic hypoventilation | 1 / 7739 | ||||
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(HPO:0011947) | Respiratory tract infection | 28 / 7739 | ||||
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(HPO:0002205) | Recurrent respiratory infections | 254 / 7739 | ||||
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(HPO:0004885) | Episodic respiratory distress | 2 / 7739 | ||||
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(HPO:0001252) | Muscular hypotonia | Very frequent [Orphanet] | 990 / 7739 | |||
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(HPO:0001324) | Muscle weakness | 859 / 7739 | ||||
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(HPO:0010547) | Muscle flaccidity | 466 / 7739 | ||||
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(HPO:0008947) | Infantile muscular hypotonia | 482 / 7739 | ||||
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(HPO:0001419) | X-linked recessive inheritance | 189 / 7739 | ||||
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(OMIM) | Dysphagia, episodic | 1 / 7739 | ||||
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(OMIM) | Cerebellar dysfunction, progressive | 1 / 7739 | ||||
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(OMIM) | Neuronal loss and gliosis in the dentate nucleus | 1 / 7739 | ||||
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(OMIM) | Neuronal loss and gliosis in the inferior olives | 1 / 7739 | ||||
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 | |||
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(OMIM) | Choking, episodic | 1 / 7739 | ||||
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(HPO:0001272) | Cerebellar atrophy | 197 / 7739 | ||||
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(OMIM) | Intermittent, transient episodes of worsening of ataxia | 1 / 7739 | ||||
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(HPO:0012795) | Abnormality of the optic disc | Very frequent [Orphanet] | 187 / 7739 | |||
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(OMIM) | Vomiting, episodic | 3 / 7739 | ||||
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(HPO:0002171) | Gliosis | 48 / 7739 | ||||
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(HPO:0003593) | Infantile onset | 249 / 7739 | ||||
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(HPO:0001522) | Death in infancy | 275 / 7739 | ||||
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(HPO:0002529) | Neuronal loss in central nervous system | 37 / 7739 | ||||
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(OMIM) | Intermittent episodes associated with lethargy, vomiting | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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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 ... |