SCA25
MCID: SPN098
MIFTS: 29

Spinocerebellar Ataxia 25 (SCA25)

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

Aliases & Classifications for Spinocerebellar Ataxia 25

MalaCards integrated aliases for Spinocerebellar Ataxia 25:

Name: Spinocerebellar Ataxia 25 57 20 13 44 70
Spinocerebellar Ataxia Type 25 12 20 58 15
Sca25 57 20 58

Characteristics:

Orphanet epidemiological data:

58
spinocerebellar ataxia type 25
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

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


HPO:

31
spinocerebellar ataxia 25:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050974
OMIM® 57 608703
OMIM Phenotypic Series 57 PS164400
MeSH 44 C537202
MESH via Orphanet 45 C537202
ICD10 via Orphanet 33 G11.8
UMLS via Orphanet 71 C1837518
Orphanet 58 ORPHA101111
MedGen 41 C1837518
UMLS 70 C1837518

Summaries for Spinocerebellar Ataxia 25

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 101111 Definition Spinocerebellar 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. Epidemiology Fewer than 10 cases in a 4-generation French family have been reported to date. Clinical description Age 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). Etiology SCA25 maps to chromosome 2p15-p21. Repeat expansion detection failed to identify CAG repeat expansion. Prognosis There is insufficient clinical data to draw conclusions concerning prognosis.

MalaCards based summary : Spinocerebellar Ataxia 25, also known as spinocerebellar ataxia type 25, is related to spinocerebellar ataxia 15 and autosomal dominant cerebellar ataxia, 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 eye, liver and cortex, and related phenotypes are progressive cerebellar ataxia and scoliosis

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.

More information from OMIM: 608703 PS164400

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 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, Autosomal Recessive 27
Spinocerebellar Ataxia, Autosomal Recessive 28 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:

(show all 18)
# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia 15 29.2 TTBK2 SUMF1
2 autosomal dominant cerebellar ataxia 28.9 TTBK2 TMEM240 SCA25 PLEKHG4
3 spinocerebellar ataxia, autosomal recessive 25 11.2
4 friedreich ataxia 10.1
5 ataxia and polyneuropathy, adult-onset 10.1
6 sensory peripheral neuropathy 10.1
7 neuropathy 10.1
8 spinocerebellar ataxia 18 9.9 TMEM240 PLEKHG4
9 autosomal dominant cerebellar ataxia type iii 9.7 TTBK2 PLEKHG4
10 spastic paraplegia 25, autosomal recessive 9.7 TTBK2 PLEKHG4
11 spastic paraplegia 19, autosomal dominant 9.6 TTBK2 PLEKHG4
12 spastic paraplegia 34, x-linked 9.6 TTBK2 PLEKHG4
13 spinocerebellar ataxia 30 9.6 TTBK2 PLEKHG4
14 cerebellar disease 9.4 TTBK2 PLEKHG4
15 dentatorubral-pallidoluysian atrophy 9.4 TTBK2 TMEM240 PLEKHG4
16 hereditary ataxia 9.4 TTBK2 TMEM240 PLEKHG4
17 spinocerebellar ataxia 4 9.2 TTBK2 TMEM240 SUMF1 PLEKHG4
18 spinocerebellar ataxia 21 9.2 TTBK2 TMEM240 SUMF1 PLEKHG4

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:

58 31 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 progressive cerebellar ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002073
2 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
3 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
4 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
5 impaired pain sensation 58 31 frequent (33%) Frequent (79-30%) HP:0007328
6 reduced visual acuity 58 31 frequent (33%) Frequent (79-30%) HP:0007663
7 sensory neuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0000763
8 pes cavus 58 31 frequent (33%) Frequent (79-30%) HP:0001761
9 gait ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002066
10 babinski sign 58 31 frequent (33%) Frequent (79-30%) HP:0003487
11 urinary urgency 58 31 frequent (33%) Frequent (79-30%) HP:0000012
12 diffuse cerebellar atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0100275
13 spastic dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0002464
14 areflexia of lower limbs 58 31 frequent (33%) Frequent (79-30%) HP:0002522
15 emg: neuropathic changes 58 31 frequent (33%) Frequent (79-30%) HP:0003445
16 decreased number of large peripheral myelinated nerve fibers 58 31 frequent (33%) Frequent (79-30%) HP:0003387
17 facial tics 58 31 frequent (33%) Frequent (79-30%) HP:0011468
18 abnormal morphology of the cerebellar cortex 58 31 frequent (33%) Frequent (79-30%) HP:0031422
19 impaired distal tactile sensation 58 31 frequent (33%) Frequent (79-30%) HP:0006937
20 vomiting 58 31 occasional (7.5%) Occasional (29-5%) HP:0002013
21 episodic abdominal pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0002574
22 facial myokymia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000317
23 ataxia 31 HP:0001251
24 dysarthria 31 HP:0001260
25 visual impairment 31 HP:0000505
26 cerebellar atrophy 31 HP:0001272
27 distal sensory impairment 58 Frequent (79-30%)
28 decreased number of peripheral myelinated nerve fibers 31 HP:0003380
29 abolished vibration sense 31 HP:0006944

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skeletal Spine:
scoliosis

Neurologic Central Nervous System:
nystagmus
dysarthria
cerebellar atrophy
cerebellar ataxia
extensor plantar responses
more
Neurologic Peripheral Nervous System:
sensory neuropathy
areflexia in lower limbs
sural nerve biopsy shows loss of myelinated fibers
vibration sense abolished
decreased touch sensation
more
Genitourinary Bladder:
urinary urgency

Head And Neck Eyes:
nystagmus
strabismus
decreased visual acuity

Abdomen Gastrointestinal:
vomiting
gastric pain

Skeletal Feet:
pes cavus

Head And Neck Face:
facial tics
facial myokymia

Clinical features from OMIM®:

608703 (Updated 20-May-2021)

UMLS symptoms related to Spinocerebellar Ataxia 25:


vomiting; cerebellar ataxia; urgency of micturition; stomach ache

Drugs & Therapeutics for Spinocerebellar Ataxia 25

Search Clinical Trials , 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:

40
Eye, Liver, Cortex

Publications for Spinocerebellar Ataxia 25

Articles related to Spinocerebellar Ataxia 25:

# Title Authors PMID Year
1
Spinocerebellar ataxia with sensory neuropathy (SCA25) maps to chromosome 2p. 57
14705117 2004
2
Spinocerebellar ataxia with sensory neuropathy (SCA25). 61
15895562 2005

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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