MCID: CRB058
MIFTS: 22

Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and Sensorinural Hearing Loss

Categories: Eye diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and...

MalaCards integrated aliases for Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and Sensorinural Hearing Loss:

Name: Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and Sensorinural Hearing Loss 54 30 6
Capos Syndrome 54 74
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome 54
Cerebellar Ataxia - Areflexia - Pes Cavus - Optic Atrophy - Sensorineural Hearing Loss 54
Capos 54

Classifications:



External Ids:

UMLS 74 C1832466

Summaries for Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and...

NIH Rare Diseases : 54 Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) syndrome is a neurological disorder. The syndrome gets its name from the different parts of the body it usually affects:Cerebellar ataxia: inflammation of the cerebellum, the part of the brain that helps control the coordination of muscle movement  Areflexia: loss of reflexes   Pes cavus: high arch in foot  Optic atrophy: damage to the optic nerve of the eye  Sensorinural hearing loss: damage to the nerves involved in hearing  CAPOS syndrome typically begins after a fever-related illness with a sudden episode of ataxia, such as having a hard time walking or coordinating leg or arm movements. The ataxia is usually associated with generalized weakness and/or inflammation of the brain (encephalopathy). The first episode most often happens between the ages of 6 months and 5 years. Pregnancy and delivery may also trigger episodes. Most people with CAPOS syndrome have one to three episodes during their lifetime. Other signs and symptoms during an episode may include low muscle tone, unusual eye movements (nystagmus or strabismus), problems with speech (dysarthria), difficulty swallowing (dysphagia), reduced or absent reflexes, and hearing loss. Some people may lose consciousness or go into a coma during an episode. Though many of the signs and symptoms of CAPOS syndrome get better as the fever and illness improve, some symptoms, including movement problems, may continue. Vision changes (optic atrophy) and sensorineural hearing loss tend to worsen over time, although the severity and rate of progression varies. Long-term management may include physical therapy, hearing and vision aids, and regular exams to check for changes in vision, hearing, and muscle coordination. 

MalaCards based summary : Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and Sensorinural Hearing Loss, also known as capos syndrome, is related to cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss and ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, and has symptoms including gait ataxia, hemiparesis and cerebellar ataxia. An important gene associated with Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and Sensorinural Hearing Loss is ATP1A3 (ATPase Na+/K+ Transporting Subunit Alpha 3). Affiliated tissues include eye, brain and cerebellum.

Related Diseases for Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and...

Diseases related to Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and Sensorinural Hearing Loss via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 15)
# Related Disease Score Top Affiliating Genes
1 cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss 12.2
2 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
3 alternating hemiplegia of childhood 10.1
4 hemiplegia 10.1
5 neuropathy 10.1
6 auditory neuropathy spectrum disorder 10.1
7 migraine with or without aura 1 10.0
8 3-methylglutaconic aciduria, type iii 10.0
9 ataxia and polyneuropathy, adult-onset 10.0
10 aceruloplasminemia 10.0
11 cavitary optic disc anomalies 10.0
12 sensorineural hearing loss 10.0
13 renovascular hypertension 10.0
14 dystonia 10.0
15 hemiplegic migraine 10.0

Graphical network of the top 20 diseases related to Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and Sensorinural Hearing Loss:



Diseases related to Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and Sensorinural Hearing Loss

Symptoms & Phenotypes for Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and...

UMLS symptoms related to Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and Sensorinural Hearing Loss:


gait ataxia, hemiparesis, cerebellar ataxia, reflex, abnormal, ataxia, truncal

Drugs & Therapeutics for Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and...

Search Clinical Trials , NIH Clinical Center for Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and Sensorinural Hearing Loss

Genetic Tests for Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and...

Genetic tests related to Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and Sensorinural Hearing Loss:

# Genetic test Affiliating Genes
1 Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and Sensorinural Hearing Loss 30 ATP1A3

Anatomical Context for Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and...

MalaCards organs/tissues related to Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and Sensorinural Hearing Loss:

42
Eye, Brain, Cerebellum

Publications for Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and...

Articles related to Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and Sensorinural Hearing Loss:

# Title Authors Year
1
Chronological dynamic changes in cortico-subcortical imbalance of cerebral blood flow in a boy with CAPOS syndrome. ( 30904181 )
2019
2
The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management. ( 29305691 )
2018
3
Novel pregnancy-triggered episodes of CAPOS syndrome. ( 29090527 )
2018
4
Childhood hearing loss is a key feature of CAPOS syndrome: A case report. ( 29287866 )
2018
5
Early Diagnosis of CAPOS Syndrome Before Acute-Onset Ataxia-Review of the Literature and a New Family. ( 28483396 )
2017
6
The Genetic Homogeneity of CAPOS Syndrome: Four New Patients With the c.2452G>A (p.Glu818Lys) Mutation in the ATP1A3 Gene. ( 27091223 )
2016
7
CAPOS syndrome and hemiplegic migraine in a novel pedigree with the specific ATP1A3 mutation. ( 26453127 )
2015
8
Phenotypic overlap of alternating hemiplegia of childhood and CAPOS syndrome. ( 25056583 )
2014
9
A novel recurrent mutation in ATP1A3 causes CAPOS syndrome. ( 24468074 )
2014
10
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS): a new syndrome. ( 8733056 )
1996

Variations for Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and...

ClinVar genetic disease variations for Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and Sensorinural Hearing Loss:

6 (show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 ATP1A3 NM_152296.3(ATP1A3): c.2767G> A (p.Asp923Asn) single nucleotide variant Pathogenic rs267606670 GRCh37 Chromosome 19, 42472989: 42472989
2 ATP1A3 NM_152296.3(ATP1A3): c.2767G> A (p.Asp923Asn) single nucleotide variant Pathogenic rs267606670 GRCh38 Chromosome 19, 41968837: 41968837
3 ATP1A3 NM_152296.5(ATP1A3): c.2401G> A (p.Asp801Asn) single nucleotide variant Pathogenic rs80356537 GRCh37 Chromosome 19, 42474557: 42474557
4 ATP1A3 NM_152296.5(ATP1A3): c.2401G> A (p.Asp801Asn) single nucleotide variant Pathogenic rs80356537 GRCh38 Chromosome 19, 41970405: 41970405
5 ATP1A3 NM_152296.4(ATP1A3): c.2443G> A (p.Glu815Lys) single nucleotide variant Pathogenic rs387907281 GRCh37 Chromosome 19, 42474436: 42474436
6 ATP1A3 NM_152296.4(ATP1A3): c.2443G> A (p.Glu815Lys) single nucleotide variant Pathogenic rs387907281 GRCh38 Chromosome 19, 41970284: 41970284
7 ATP1A3 NM_152296.4(ATP1A3): c.2839G> A (p.Gly947Arg) single nucleotide variant Pathogenic rs398122887 GRCh37 Chromosome 19, 42471896: 42471896
8 ATP1A3 NM_152296.4(ATP1A3): c.2839G> A (p.Gly947Arg) single nucleotide variant Pathogenic rs398122887 GRCh38 Chromosome 19, 41967744: 41967744
9 ATP1A3 NM_152296.4(ATP1A3): c.2452G> A (p.Glu818Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs587777771 GRCh38 Chromosome 19, 41970275: 41970275
10 ATP1A3 NM_152296.4(ATP1A3): c.2452G> A (p.Glu818Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs587777771 GRCh37 Chromosome 19, 42474427: 42474427
11 ATP1A3 NM_152296.4(ATP1A3): c.974G> A (p.Gly325Asp) single nucleotide variant Likely pathogenic rs863224847 GRCh38 Chromosome 19, 41984937: 41984937
12 ATP1A3 NM_152296.4(ATP1A3): c.974G> A (p.Gly325Asp) single nucleotide variant Likely pathogenic rs863224847 GRCh37 Chromosome 19, 42489089: 42489089
13 ATP1A3 NM_152296.4(ATP1A3): c.2224G> T (p.Asp742Tyr) single nucleotide variant Likely pathogenic rs1135401822 GRCh38 Chromosome 19, 41975668: 41975668
14 ATP1A3 NM_152296.4(ATP1A3): c.2224G> T (p.Asp742Tyr) single nucleotide variant Likely pathogenic rs1135401822 GRCh37 Chromosome 19, 42479820: 42479820
15 ATP1A3 NM_001256214.1(ATP1A3): c.499A> G (p.Met167Val) single nucleotide variant Likely pathogenic rs1135401821 GRCh37 Chromosome 19, 42490279: 42490279
16 ATP1A3 NM_001256214.1(ATP1A3): c.499A> G (p.Met167Val) single nucleotide variant Likely pathogenic rs1135401821 GRCh38 Chromosome 19, 41986127: 41986127
17 ATP1A3 NM_152296.5(ATP1A3): c.1192+7G> A single nucleotide variant Uncertain significance GRCh37 Chromosome 19, 42486053: 42486053
18 ATP1A3 NM_152296.5(ATP1A3): c.1192+7G> A single nucleotide variant Uncertain significance GRCh38 Chromosome 19, 41981901: 41981901
19 ATP1A3 NM_152296.5(ATP1A3): c.1176C> T (p.Thr392=) single nucleotide variant Uncertain significance GRCh37 Chromosome 19, 42486076: 42486076
20 ATP1A3 NM_152296.5(ATP1A3): c.1176C> T (p.Thr392=) single nucleotide variant Uncertain significance GRCh38 Chromosome 19, 41981924: 41981924

Expression for Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and...

Search GEO for disease gene expression data for Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and Sensorinural Hearing Loss.

Pathways for Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and...

GO Terms for Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and...

Sources for Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....