CAPOS
MCID: CRB189
MIFTS: 29

Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, and Sensorineural Hearing Loss (CAPOS)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic 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 Sensorineural Hearing Loss:

Name: Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, and Sensorineural Hearing Loss 57 75
Capos Syndrome 57 59 75 40 73
Capos 57 75
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
Inheritance: Autosomal dominant,Mitochondrial inheritance; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy or early childhood
recurrent acute episodes of neurologic deterioration associated with febrile illnesses
acute episodes decrease with age and disappear
residual neurologic deficits are slowly progressive
visual and hearing loss are slowly progressive
four unrelated families of caucasian european descent have been reported (last curated february 2015)


HPO:

32
cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss:
Inheritance autosomal dominant inheritance


Classifications:



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

OMIM : 57 Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) is an autosomal dominant neurologic disorder characterized by early-childhood onset of recurrent episodes of acute ataxic encephalopathy associated with febrile illnesses. These acute episodes tend to decrease with time, but the neurologic sequelae are permanent and progressive, resulting in gait and limb ataxia and areflexia. Affected individuals also develop progressive visual impairment due to optic atrophy and sensorineural hearing loss beginning in childhood. More variable features include abnormal eye movements, pes cavus, and dysphagia (summary by Demos et al., 2014). (601338)

MalaCards based summary : Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, and Sensorineural Hearing Loss, also known as capos syndrome, is related to cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss and 3-methylglutaconic aciduria, type iii, and has symptoms including gait ataxia, hemiparesis and ataxia, truncal. An important gene associated with Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, and Sensorineural Hearing Loss is ATP1A3 (ATPase Na+/K+ Transporting Subunit Alpha 3). Affiliated tissues include eye, and related phenotypes are abnormality of eye movement and seizures

UniProtKB/Swiss-Prot : 75 Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss: An autosomal dominant neurologic disorder characterized by relapsing and partially remitting, early-onset cerebellar ataxia following a febrile illness. Other features include progressive optic atrophy and sensorineural hearing loss, generalized hypotonia, areflexia and pes cavus without evidence of a peripheral neuropathy on neurophysiological studies.

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

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

(show all 13)
# Related Disease Score Top Affiliating Genes
1 cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss 11.7
2 3-methylglutaconic aciduria, type iii 10.6
3 aceruloplasminemia 10.6
4 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.6
5 sensorineural hearing loss 10.6
6 alternating hemiplegia of childhood 10.1
7 hemiplegia 10.1
8 neuropathy 10.1
9 auditory neuropathy spectrum disorder 10.1
10 cavitary optic disc anomalies 9.9
11 renovascular hypertension 9.9
12 dystonia 9.9
13 hemiplegic migraine 9.9

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



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

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
optic atrophy
blindness
visual loss, progressive
eye movement abnormalities

Skeletal Feet:
pes cavus

Muscle Soft Tissue:
hypotonia
weakness, episodic

Neurologic Behavioral Psychiatric Manifestations:
autistic features (1 family)

Neurologic Central Nervous System:
dysarthria
gait ataxia
dysmetria
dystonia
truncal ataxia
more
Neurologic Peripheral Nervous System:
areflexia

Head And Neck Ears:
sensorineural hearing loss, progressive


Clinical features from OMIM:

601338

Human phenotypes related to Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, and Sensorineural Hearing Loss:

59 32 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of eye movement 59 32 occasional (7.5%) Occasional (29-5%) HP:0000496
2 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
3 ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001251
4 muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001324
5 dysphagia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002015
6 sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000407
7 optic atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000648
8 cognitive impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0100543
9 pes cavus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001761
10 dystonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001332
11 areflexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001284
12 encephalopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001298
13 autistic behavior 59 32 occasional (7.5%) Occasional (29-5%) HP:0000729
14 nystagmus 32 HP:0000639
15 dysarthria 32 HP:0001260
16 blindness 32 HP:0000618
17 progressive visual loss 32 HP:0000529
18 gait ataxia 32 HP:0002066
19 dysmetria 32 HP:0001310
20 truncal ataxia 32 HP:0002078
21 hemiparesis 32 HP:0001269
22 incoordination 32 HP:0002311
23 progressive sensorineural hearing impairment 32 HP:0000408
24 episodic ataxia 32 HP:0002131
25 episodic generalized hypotonia 32 HP:0006852

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


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

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 Sensorineural Hearing Loss

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

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

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

41
Eye

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

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

# Title Authors Year
1
Novel pregnancy-triggered episodes of CAPOS syndrome. ( 29090527 )
2018
2
Childhood hearing loss is a key feature of CAPOS syndrome: A case report. ( 29287866 )
2018
3
Early Diagnosis of CAPOS Syndrome Before Acute-Onset Ataxia-Review of the Literature and a New Family. ( 28483396 )
2017
4
The Genetic Homogeneity of CAPOS Syndrome: Four New Cases With the c.2452G&amp;gt;A (p.Glu818Lys) Mutation in the ATP1A3 Gene. ( 27091223 )
2016
5
CAPOS syndrome and hemiplegic migraine in a novel pedigree with the specific ATP1A3 mutation. ( 26453127 )
2015
6
Phenotypic overlap of alternating hemiplegia of childhood and CAPOS syndrome. ( 25056583 )
2014
7
A novel recurrent mutation in ATP1A3 causes CAPOS syndrome. ( 24468074 )
2014
8
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...

UniProtKB/Swiss-Prot genetic disease variations for Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, and Sensorineural Hearing Loss:

75
# Symbol AA change Variation ID SNP ID
1 ATP1A3 p.Glu818Lys VAR_070772 rs587777771

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ATP1A3 NM_152296.5(ATP1A3): c.2401G> A (p.Asp801Asn) single nucleotide variant Pathogenic rs80356537 GRCh37 Chromosome 19, 42474557: 42474557
2 ATP1A3 NM_152296.5(ATP1A3): c.2401G> A (p.Asp801Asn) single nucleotide variant Pathogenic rs80356537 GRCh38 Chromosome 19, 41970405: 41970405
3 ATP1A3 NM_152296.4(ATP1A3): c.2452G> A (p.Glu818Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs587777771 GRCh38 Chromosome 19, 41970275: 41970275
4 ATP1A3 NM_152296.4(ATP1A3): c.2452G> A (p.Glu818Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs587777771 GRCh37 Chromosome 19, 42474427: 42474427
5 ATP1A3 NM_152296.4(ATP1A3): c.974G> A (p.Gly325Asp) single nucleotide variant Likely pathogenic rs863224847 GRCh38 Chromosome 19, 41984937: 41984937
6 ATP1A3 NM_152296.4(ATP1A3): c.974G> A (p.Gly325Asp) single nucleotide variant Likely pathogenic rs863224847 GRCh37 Chromosome 19, 42489089: 42489089
7 ATP1A3 NM_152296.4(ATP1A3): c.2224G> T (p.Asp742Tyr) single nucleotide variant Likely pathogenic rs1135401822 GRCh38 Chromosome 19, 41975668: 41975668
8 ATP1A3 NM_152296.4(ATP1A3): c.2224G> T (p.Asp742Tyr) single nucleotide variant Likely pathogenic rs1135401822 GRCh37 Chromosome 19, 42479820: 42479820
9 ATP1A3 NM_001256214.1(ATP1A3): c.499A> G (p.Met167Val) single nucleotide variant Likely pathogenic rs1135401821 GRCh37 Chromosome 19, 42490279: 42490279
10 ATP1A3 NM_001256214.1(ATP1A3): c.499A> G (p.Met167Val) single nucleotide variant Likely pathogenic rs1135401821 GRCh38 Chromosome 19, 41986127: 41986127

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 Sensorineural 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....