MCID: SPN098
MIFTS: 27

Spinocerebellar Ataxia 25

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

Aliases & Classifications for Spinocerebellar Ataxia 25

MalaCards integrated aliases for Spinocerebellar Ataxia 25:

Name: Spinocerebellar Ataxia 25 57 53 13 73
Spinocerebellar Ataxia Type 25 12 53 59
Sca25 57 53 59

Characteristics:

Orphanet epidemiological data:

59
spinocerebellar ataxia type 25
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
spinocerebellar ataxia 25:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Spinocerebellar Ataxia 25

NIH Rare Diseases : 53 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 cerebellar ataxia, vomiting 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 impaired pain sensation and reduced visual acuity

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 Type 16
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 11.3
2 spinocerebellar ataxia, autosomal recessive 25 11.2
3 sensory peripheral neuropathy 9.9
4 neuropathy 9.9

Symptoms & Phenotypes for Spinocerebellar Ataxia 25

Symptoms via clinical synopsis from OMIM:

57
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 tics
facial myokymia


Clinical features from OMIM:

608703

Human phenotypes related to Spinocerebellar Ataxia 25:

59 32 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 impaired pain sensation 59 32 frequent (33%) Frequent (79-30%) HP:0007328
2 reduced visual acuity 59 32 frequent (33%) Frequent (79-30%) HP:0007663
3 facial tics 59 32 frequent (33%) Frequent (79-30%) HP:0011468
4 abnormal morphology of the cerebellar cortex 59 32 frequent (33%) Frequent (79-30%) HP:0031422
5 diffuse cerebellar atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0100275
6 facial myokymia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000317
7 vomiting 59 32 occasional (7.5%) Occasional (29-5%) HP:0002013
8 episodic abdominal pain 59 32 occasional (7.5%) Occasional (29-5%) HP:0002574
9 progressive cerebellar ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002073
10 urinary urgency 59 32 frequent (33%) Frequent (79-30%) HP:0000012
11 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
12 nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000639
13 sensory neuropathy 59 32 frequent (33%) Frequent (79-30%) HP:0000763
14 pes cavus 59 32 frequent (33%) Frequent (79-30%) HP:0001761
15 gait ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0002066
16 spastic dysarthria 59 32 frequent (33%) Frequent (79-30%) HP:0002464
17 areflexia of lower limbs 59 32 frequent (33%) Frequent (79-30%) HP:0002522
18 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
19 decreased number of large peripheral myelinated nerve fibers 59 32 frequent (33%) Frequent (79-30%) HP:0003387
20 babinski sign 59 32 frequent (33%) Frequent (79-30%) HP:0003487
21 impaired distal tactile sensation 59 32 frequent (33%) Frequent (79-30%) HP:0006937
22 distal sensory impairment 59 Frequent (79-30%)
23 emg: neuropathic changes 59 Frequent (79-30%)
24 visual impairment 32 HP:0000505
25 ataxia 32 HP:0001251
26 dysarthria 32 HP:0001260
27 cerebellar atrophy 32 HP:0001272
28 decreased number of peripheral myelinated nerve fibers 32 HP:0003380
29 abolished vibration sense 32 HP:0006944
30 emg 32 frequent (33%) HP:0003445

UMLS symptoms related to Spinocerebellar Ataxia 25:


cerebellar ataxia, vomiting, 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

Genetic Tests for Spinocerebellar Ataxia 25

Anatomical Context for Spinocerebellar Ataxia 25

MalaCards organs/tissues related to Spinocerebellar Ataxia 25:

41
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 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....