SCA25
MCID: SPN098
MIFTS: 27

Spinocerebellar Ataxia 25 (SCA25)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Spinocerebellar Ataxia 25

MalaCards integrated aliases for Spinocerebellar Ataxia 25:

Name: Spinocerebellar Ataxia 25 58 54 13 45 74
Spinocerebellar Ataxia Type 25 12 54 60
Sca25 58 54 60

Characteristics:

Orphanet epidemiological data:

60
spinocerebellar ataxia type 25
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
intrafamilial variability
onset usually in childhood (range 17 months to 39 years)


HPO:

33
spinocerebellar ataxia 25:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050974
OMIM 58 608703
MeSH 45 C537202
MESH via Orphanet 46 C537202
ICD10 via Orphanet 35 G11.8
UMLS via Orphanet 75 C1837518
Orphanet 60 ORPHA101111
MedGen 43 C1837518
UMLS 74 C1837518

Summaries for Spinocerebellar Ataxia 25

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 101111Disease definitionSpinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia and prominent sensory neuropathy.EpidemiologyFewer than 10 cases in a 4-generation French family have been reported to date.Clinical descriptionAge of onset ranges from 1 to 39 years. The clinical features vary widely from sensory neuropathy with little cerebellar ataxia to cerebellar ataxia with little sensory neuropathy. Some patients exhibit gastrointestinal (GI) disorders such as vomiting and abdominal pain as initial symptoms. GI problems can persist. Scoliosis and urinary problems (nycturia or urinary urgency) are also observed. Head magnetic resonance imaging (MRI) shows severe global cerebellar atrophy like in SCA5 and SCA6 (see these terms).EtiologySCA25 maps to chromosome 2p15-p21. Repeat expansion detection failed to identify CAG repeat expansion.PrognosisThere is insufficient clinical data to draw conclusions concerning prognosis.Visit the Orphanet disease page for more resources.

MalaCards based summary : Spinocerebellar Ataxia 25, also known as spinocerebellar ataxia type 25, is related to autosomal dominant cerebellar ataxia and spinocerebellar ataxia, autosomal recessive 25, and has symptoms including vomiting, cerebellar ataxia and urgency of micturition. An important gene associated with Spinocerebellar Ataxia 25 is SCA25 (Spinocerebellar Ataxia 25). Affiliated tissues include cortex, and related phenotypes are progressive cerebellar ataxia and nystagmus

Disease Ontology : 12 An autosomal dominant cerebellar ataxia that is characterized by ataxia and sensory neuropathy, has material basis in repeat CAG expansion on chromosome 2p15-p21.

Description from OMIM: 608703

Related Diseases for Spinocerebellar Ataxia 25

Diseases in the Spinocerebellar Ataxia 2 family:

Spinocerebellar Ataxia 31 Spinocerebellar Ataxia 29
Spinocerebellar Ataxia 34 Spinocerebellar Ataxia 1
Spinocerebellar Ataxia 7 Spinocerebellar Ataxia 6
Spinocerebellar Ataxia, Autosomal Recessive 2 Spinocerebellar Ataxia, Autosomal Recessive 3
Spinocerebellar Ataxia 4 Spinocerebellar Ataxia 5
Spinocerebellar Ataxia 10 Spinocerebellar Ataxia 12
Spinocerebellar Ataxia 11 Spinocerebellar Ataxia 13
Spinocerebellar Ataxia 14 Spinocerebellar Ataxia, Autosomal Recessive 1
Spinocerebellar Ataxia 15 Spinocerebellar Ataxia 17
Spinocerebellar Ataxia, Autosomal Recessive 4 Spinocerebellar Ataxia 19
Spinocerebellar Ataxia 21 Spinocerebellar Ataxia 18
Spinocerebellar Ataxia, Autosomal Recessive 6 Spinocerebellar Ataxia 20
Spinocerebellar Ataxia 25 Spinocerebellar Ataxia 8
Spinocerebellar Ataxia, Autosomal Recessive 7 Spinocerebellar Ataxia 26
Spinocerebellar Ataxia 27 Spinocerebellar Ataxia 23
Spinocerebellar Ataxia 28 Spinocerebellar Ataxia, Autosomal Recessive 8
Spinocerebellar Ataxia 9 Spinocerebellar Ataxia 30
Spinocerebellar Ataxia, Autosomal Recessive 10 Spinocerebellar Ataxia 35
Spinocerebellar Ataxia 32 Spinocerebellar Ataxia 36
Spinocerebellar Ataxia, Autosomal Recessive 11 Spinocerebellar Ataxia, Autosomal Recessive 12
Spinocerebellar Ataxia, Autosomal Recessive 13 Spinocerebellar Ataxia, Autosomal Recessive 14
Spinocerebellar Ataxia, Autosomal Recessive 15 Spinocerebellar Ataxia, Autosomal Recessive 16
Spinocerebellar Ataxia 37 Spinocerebellar Ataxia 38
Spinocerebellar Ataxia 40 Spinocerebellar Ataxia, Autosomal Recessive 17
Spinocerebellar Ataxia, Autosomal Recessive 18 Spinocerebellar Ataxia, Autosomal Recessive 20
Spinocerebellar Ataxia 41 Spinocerebellar Ataxia, Autosomal Recessive 21
Spinocerebellar Ataxia 42 Spinocerebellar Ataxia, Autosomal Recessive 22
Spinocerebellar Ataxia, Autosomal Recessive 23 Spinocerebellar Ataxia 43
Spinocerebellar Ataxia, Autosomal Recessive 24 Spinocerebellar Ataxia, Autosomal Recessive 25
Spinocerebellar Ataxia, Autosomal Recessive 26 Spinocerebellar Ataxia 44
Spinocerebellar Ataxia 45 Spinocerebellar Ataxia 46
Spinocerebellar Ataxia 47 Spinocerebellar Ataxia 48
Spinocerebellar Ataxia Type 19/22 Grid2-Related Spinocerebellar Ataxia
Spinocerebellar Ataxia Autosomal Recessive 5

Diseases related to Spinocerebellar Ataxia 25 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 autosomal dominant cerebellar ataxia 11.5
2 spinocerebellar ataxia, autosomal recessive 25 11.3
3 perrault syndrome 1 11.1
4 sensory peripheral neuropathy 10.3
5 neuropathy 10.3

Graphical network of the top 20 diseases related to Spinocerebellar Ataxia 25:



Diseases related to Spinocerebellar Ataxia 25

Symptoms & Phenotypes for Spinocerebellar Ataxia 25

Human phenotypes related to Spinocerebellar Ataxia 25:

60 33 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 progressive cerebellar ataxia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002073
2 nystagmus 60 33 frequent (33%) Frequent (79-30%) HP:0000639
3 scoliosis 60 33 frequent (33%) Frequent (79-30%) HP:0002650
4 sensory neuropathy 60 33 frequent (33%) Frequent (79-30%) HP:0000763
5 strabismus 60 33 frequent (33%) Frequent (79-30%) HP:0000486
6 gait ataxia 60 33 frequent (33%) Frequent (79-30%) HP:0002066
7 babinski sign 60 33 frequent (33%) Frequent (79-30%) HP:0003487
8 pes cavus 60 33 frequent (33%) Frequent (79-30%) HP:0001761
9 areflexia of lower limbs 60 33 frequent (33%) Frequent (79-30%) HP:0002522
10 reduced visual acuity 60 33 frequent (33%) Frequent (79-30%) HP:0007663
11 impaired pain sensation 60 33 frequent (33%) Frequent (79-30%) HP:0007328
12 urinary urgency 60 33 frequent (33%) Frequent (79-30%) HP:0000012
13 spastic dysarthria 60 33 frequent (33%) Frequent (79-30%) HP:0002464
14 emg: neuropathic changes 60 33 frequent (33%) Frequent (79-30%) HP:0003445
15 diffuse cerebellar atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0100275
16 impaired distal tactile sensation 60 33 frequent (33%) Frequent (79-30%) HP:0006937
17 decreased number of large peripheral myelinated nerve fibers 60 33 frequent (33%) Frequent (79-30%) HP:0003387
18 abnormal morphology of the cerebellar cortex 60 33 frequent (33%) Frequent (79-30%) HP:0031422
19 facial tics 60 33 frequent (33%) Frequent (79-30%) HP:0011468
20 vomiting 60 33 occasional (7.5%) Occasional (29-5%) HP:0002013
21 episodic abdominal pain 60 33 occasional (7.5%) Occasional (29-5%) HP:0002574
22 facial myokymia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000317
23 ataxia 33 HP:0001251
24 dysarthria 33 HP:0001260
25 visual impairment 33 HP:0000505
26 cerebellar atrophy 33 HP:0001272
27 distal sensory impairment 60 Frequent (79-30%)
28 decreased number of peripheral myelinated nerve fibers 33 HP:0003380
29 abolished vibration sense 33 HP:0006944

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
nystagmus
strabismus
decreased visual acuity

Skeletal Spine:
scoliosis

Neurologic Peripheral Nervous System:
sensory neuropathy
areflexia in lower limbs
vibration sense abolished
decreased touch sensation
decreased pain sensation
more
Genitourinary Bladder:
urinary urgency

Neurologic Central Nervous System:
nystagmus
dysarthria
cerebellar atrophy
extensor plantar responses
cerebellar ataxia
more
Abdomen Gastrointestinal:
vomiting
gastric pain

Skeletal Feet:
pes cavus

Head And Neck Face:
facial myokymia
facial tics

Clinical features from OMIM:

608703

UMLS symptoms related to Spinocerebellar Ataxia 25:


vomiting, cerebellar ataxia, urgency of micturition, stomach ache

Drugs & Therapeutics for Spinocerebellar Ataxia 25

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Spinocerebellar Ataxia 25

Cochrane evidence based reviews: spinocerebellar ataxia 25

Genetic Tests for Spinocerebellar Ataxia 25

Anatomical Context for Spinocerebellar Ataxia 25

MalaCards organs/tissues related to Spinocerebellar Ataxia 25:

42
Cortex

Publications for Spinocerebellar Ataxia 25

Variations for Spinocerebellar Ataxia 25

Expression for Spinocerebellar Ataxia 25

Search GEO for disease gene expression data for Spinocerebellar Ataxia 25.

Pathways for Spinocerebellar Ataxia 25

GO Terms for Spinocerebellar Ataxia 25

Sources for Spinocerebellar Ataxia 25

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
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