X-linked progressive cerebellar ataxia

General Information (adopted from Orphanet):

Synonyms, Signs: OLIVOPONTOCEREBELLAR ATROPHY, X-LINKED
OPCA, X-LINKED
OPCAX
SCAX1
Number of Symptoms 16
OrphanetNr: 1175
OMIM Id: 302500
ICD-10: G11.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Spinocerebellar ataxia with oculomotor anomaly
 -Rare eye disease
 -Rare genetic disease
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:0000514) Slow saccadic eye movements 21 / 7739
2
 (HPO:0000486) Strabismus 576 / 7739
3
 (HPO:0000639) Nystagmus 555 / 7739
4
 (HPO:0002345) Action tremor 11 / 7739
5
 (HPO:0001260) Dysarthria 329 / 7739
6
 (HPO:0001270) Motor delay 322 / 7739
7
 (HPO:0001251) Ataxia 413 / 7739
8
 (HPO:0002080) Intention tremor 44 / 7739
9
 (HPO:0001319) Neonatal hypotonia 101 / 7739
10
 (HPO:0003577) Congenital onset 133 / 7739
11
 (HPO:0001272) Cerebellar atrophy 197 / 7739
12
 (OMIM) Difficulty standing independently 1 / 7739
13
 (HPO:0003621) Juvenile onset 105 / 7739
14
 (HPO:0003680) Nonprogressive disorder 23 / 7739
15
 (OMIM) Slow eye movements 3 / 7739
16
 (HPO:0001419) X-linked recessive inheritance 189 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) SCAX1 is an X-linked recessive neurologic disorder characterized by hypotonia at birth, delayed motor development, gait ataxia, difficulty standing, dysarthria, and slow eye movements. Brain MRI shows cerebellar ataxia (summary by Bertini et al., 2000).

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Clinical Description OMIM Shokeir (1970) described 3 kindreds in which a total of 16 affected individuals had cerebellar ataxia transmitted in an X-linked recessive pattern of inheritance. In 1 family, onset of lower limb weakness, unsteady gait, and incoordination occurred between ...
Molecular genetics OMIM In the boy and his uncle with X-linked spinocerebellar ataxia-1 originally reported by Bertini et al. (2000), Zanni et al. (2012) identified a mutation in the ATP2B3 gene (G1107D; 300014.0001). The mutation was identified by X-exome sequencing and ...