SCA18
MCID: SPN094
MIFTS: 34

Spinocerebellar Ataxia 18 (SCA18)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Skin diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Spinocerebellar Ataxia 18

MalaCards integrated aliases for Spinocerebellar Ataxia 18:

Name: Spinocerebellar Ataxia 18 57 19 71
Spinocerebellar Ataxia Type 18 11 19 58 28 14
Sca18 57 19 58
Smna 57 19
Sensorimotor Neuropathy with Ataxia, Autosomal Dominant 57
Sensorimotor Neuropathy with Ataxia Autosomal Dominant 19

Characteristics:


Inheritance:

Spinocerebellar Ataxia 18: Autosomal dominant 57
Spinocerebellar Ataxia Type 18: Autosomal dominant 58

Prevelance:

Spinocerebellar Ataxia Type 18: <1/1000000 (Worldwide) 58

Age Of Onset:

Spinocerebellar Ataxia Type 18: Adult 58

OMIM®:

57 (Updated 24-Oct-2022)
Miscellaneous:
onset in second and third decades


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 11 DOID:0050969
OMIM® 57 607458
OMIM Phenotypic Series 57 PS164400
MESH via Orphanet 44 C537197
ICD10 via Orphanet 32 G11.8
UMLS via Orphanet 72 C1843884
Orphanet 58 ORPHA98771
MedGen 40 C1843884
UMLS 71 C1843884

Summaries for Spinocerebellar Ataxia 18

GARD: 19 Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by sensory neuropathy and cerebellar ataxia.

MalaCards based summary: Spinocerebellar Ataxia 18, also known as spinocerebellar ataxia type 18, is related to spastic paraparesis and aceruloplasminemia, and has symptoms including tremor and dysdiadochokinesis. An important gene associated with Spinocerebellar Ataxia 18 is IFRD1 (Interferon Related Developmental Regulator 1). Affiliated tissues include skeletal muscle, and related phenotypes are muscle weakness and areflexia

Orphanet: 58 Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by sensory neuropathy and cerebellar ataxia.

Disease Ontology: 11 An autosomal dominant cerebellar ataxia that is characterized by cerebellar ataxia and sensory neuropathy, has material basis in mutation on chromosome 7q22-q23.

More information from OMIM: 607458 PS164400

Related Diseases for Spinocerebellar Ataxia 18

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 27 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 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, Autosomal Recessive 29
Spinocerebellar Ataxia, Autosomal Recessive 30 Spinocerebellar Ataxia, Autosomal Recessive 31
Spinocerebellar Ataxia 49 Spinocerebellar Ataxia, Autosomal Recessive 32
Spinocerebellar Ataxia Type 19/22 Grid2-Related Spinocerebellar Ataxia

Diseases related to Spinocerebellar Ataxia 18 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 58)
# Related Disease Score Top Affiliating Genes
1 spastic paraparesis 30.1 CACNA1A AFG3L2
2 aceruloplasminemia 30.0 SEPSECS CACNA1A AFG3L2
3 autosomal recessive cerebellar ataxia 29.7 CACNA1A ATXN1
4 hereditary spastic paraplegia 29.5 CACNA1A ATXN1 AFG3L2
5 hereditary ataxia 28.4 TMEM240 PLEKHG4 GRID2 CACNA1A ATXN1 AFG3L2
6 autosomal dominant cerebellar ataxia 28.1 TMEM240 SCA18 PLEKHG4 GRID2 CACNA1A ATXN1
7 spinocerebellar ataxia, autosomal recessive 18 11.7
8 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.1
9 alacrima, achalasia, and mental retardation syndrome 10.1
10 cerebellar hypoplasia 10.1
11 sensorineural hearing loss 10.1
12 bruxism 10.1
13 fundus dystrophy 10.1
14 pathologic nystagmus 10.1
15 hypotonia 10.1
16 inherited retinal disorder 10.1
17 spinocerebellar ataxia, x-linked 4 10.1 PLEKHG4 GRID2
18 spinocerebellar ataxia, x-linked 3 10.1 PLEKHG4 GRID2
19 spinocerebellar ataxia, autosomal recessive 14 10.0 CACNA1A AFG3L2
20 spinocerebellar ataxia, autosomal recessive 17 10.0 CACNA1A AFG3L2
21 spinocerebellar ataxia 31 10.0 PLEKHG4 CACNA1A
22 spinocerebellar ataxia, autosomal recessive 4 10.0 PLEKHG4 CACNA1A
23 ocular motility disease 10.0 CACNA1A AFG3L2
24 spinocerebellar ataxia 4 10.0 PLEKHG4 ATXN1
25 peripheral nervous system disease 9.9
26 axonal neuropathy 9.9
27 neuropathy 9.9
28 familial adult myoclonic epilepsy 9.9 PLEKHG4 CACNA1A
29 primary cerebellar degeneration 9.9 CACNA1A ATXN1
30 cerebellar ataxia type 43 9.9 TMEM240 AFG3L2
31 spinocerebellar ataxia 12 9.9 CACNA1A ATXN1
32 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 9.9 CACNA1A ATXN1
33 episodic ataxia, type 2 9.9 CACNA1A ATXN1
34 spinocerebellar ataxia 25 9.9 TMEM240 PLEKHG4
35 spinocerebellar ataxia, x-linked 5 9.9 TMEM240 PLEKHG4
36 x-linked cerebellar ataxia 9.8 TMEM240 PLEKHG4
37 spinal and bulbar muscular atrophy, x-linked 1 9.8 CACNA1A ATXN1
38 spinocerebellar ataxia 8 9.8 CACNA1A ATXN1
39 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 9.8 TMEM240 AFG3L2
40 early myoclonic encephalopathy 9.8 CACNA1A AFG3L2
41 cerebellar ataxia type 47 9.8 TMEM240 ATXN1
42 multiple system atrophy 1 9.8 CACNA1A ATXN1
43 dystonia 12 9.7 CACNA1A ATXN1
44 choreatic disease 9.7 CACNA1A ATXN1 AFG3L2
45 spinocerebellar ataxia 1 9.7 PLEKHG4 CACNA1A ATXN1
46 olivopontocerebellar atrophy 9.7 PLEKHG4 CACNA1A ATXN1
47 spinocerebellar ataxia 6 9.7 PLEKHG4 CACNA1A ATXN1
48 spinocerebellar ataxia 17 9.7 PLEKHG4 CACNA1A ATXN1
49 progressive myoclonus epilepsy 9.7 CACNA1A AFG3L2
50 machado-joseph disease 9.7 PLEKHG4 CACNA1A ATXN1

Graphical network of the top 20 diseases related to Spinocerebellar Ataxia 18:



Diseases related to Spinocerebellar Ataxia 18

Symptoms & Phenotypes for Spinocerebellar Ataxia 18

Human phenotypes related to Spinocerebellar Ataxia 18:

58 30 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscle weakness 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001324
2 areflexia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001284
3 gait ataxia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002066
4 somatic sensory dysfunction 30 Hallmark (90%) HP:0003474
5 dysarthria 58 30 Frequent (33%) Frequent (79-30%)
HP:0001260
6 hearing impairment 58 30 Frequent (33%) Frequent (79-30%)
HP:0000365
7 dysmetria 58 30 Frequent (33%) Frequent (79-30%)
HP:0001310
8 pes cavus 58 30 Frequent (33%) Frequent (79-30%)
HP:0001761
9 sensorimotor neuropathy 58 30 Frequent (33%) Frequent (79-30%)
HP:0007141
10 lower limb hyperreflexia 58 30 Frequent (33%) Frequent (79-30%)
HP:0002395
11 muscle fibrillation 58 30 Frequent (33%) Frequent (79-30%)
HP:0010546
12 hyporeflexia of lower limbs 58 30 Frequent (33%) Frequent (79-30%)
HP:0002600
13 nystagmus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000639
14 skeletal muscle atrophy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003202
15 cerebellar atrophy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001272
16 peripheral axonal neuropathy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003477
17 head tremor 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002346
18 titubation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0030187
19 tremor 30 HP:0001337
20 dysdiadochokinesis 30 HP:0002075
21 hyporeflexia 30 HP:0001265
22 babinski sign 30 HP:0003487
23 limb muscle weakness 30 HP:0003690
24 sensory impairment 58 Very frequent (99-80%)
25 progressive gait ataxia 30 HP:0007240
26 sensory axonal neuropathy 30 HP:0003390

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Head And Neck Eyes:
nystagmus

Neurologic Peripheral Nervous System:
sensory neuropathy
nerve conduction velocity studies show axonal sensory neuropathy

Muscle Soft Tissue:
muscle atrophy

Neurologic Central Nervous System:
tremor
areflexia
dysmetria
dysdiadochokinesis
hyporeflexia
more
Skeletal Feet:
pes cavus

Clinical features from OMIM®:

607458 (Updated 24-Oct-2022)

UMLS symptoms related to Spinocerebellar Ataxia 18:


tremor; dysdiadochokinesis

MGI Mouse Phenotypes related to Spinocerebellar Ataxia 18:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.02 AFG3L2 ATXN1 CACNA1A GRID2 IFRD1

Drugs & Therapeutics for Spinocerebellar Ataxia 18

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Spinocerebellar Ataxia 18

Genetic Tests for Spinocerebellar Ataxia 18

Genetic tests related to Spinocerebellar Ataxia 18:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia Type 18 28

Anatomical Context for Spinocerebellar Ataxia 18

Organs/tissues related to Spinocerebellar Ataxia 18:

MalaCards : Skeletal Muscle

Publications for Spinocerebellar Ataxia 18

Articles related to Spinocerebellar Ataxia 18:

(show all 17)
# Title Authors PMID Year
1
IFRD1 is a candidate gene for SMNA on chromosome 7q22-q23. 62 57
19409521 2009
2
Autosomal dominant sensory/motor neuropathy with Ataxia (SMNA): Linkage to chromosome 7q22-q32. 62 57
11992570 2002
3
Nano-Film-Forming Plugging Drilling Fluid and Bridging Cross-Linking Plugging Agent Are Used to Strengthen Wellbores in Complex Formations. 62
35811860 2022
4
Preparation of responsive nano-adsorbent to near-infrared laser based on tungsten disulfide for bicalutamide extraction in human biological fluids. 62
35430410 2022
5
GRID2 Mutation-Related Spinocerebellar Ataxia Type 18: A New Report and Literature Review. 62
35769960 2022
6
Autosomal recessive spinocerebellar ataxia 18 caused by homozygous exon 14 duplication in GRID2 and review of the literature. 62
32170608 2021
7
Preparation and Characterization of the Functional Properties of Synthetic Aggregates from Silico-Manganese Slag. 62
34885457 2021
8
A case of severe autosomal recessive spinocerebellar ataxia type 18 with a novel nonsense variant in GRID2. 62
32622959 2020
9
Long-term follow-up in infantile-onset SCAR18: A case report. 62
32387255 2020
10
Nanomechanics and Raman Spectroscopy of in Situ Native Carbohydrate Storage Granules for Enhancing Starch Quality and Lignocellulosic Biomass Production. 62
32095683 2020
11
Synthesis, Characterization, and Modification of Alumina Nanoparticles for Cationic Dye Removal. 62
30717156 2019
12
Identification of IFRD1 variant in a Han Chinese family with autosomal dominant hereditary spastic paraplegia associated with peripheral neuropathy and ataxia. 62
29362493 2018
13
[Carbonic anhydrase III and mRNA expression levels in quadriceps femoris muscle of chronic obstructive pulmonary disease patients]. 62
25264012 2014
14
Molecular genetic analysis of a new form of spinocerebellar ataxia in a Chinese Han family. 62
20641168 2010
15
The wide spectrum of spinocerebellar ataxias (SCAs). 62
15895552 2005
16
LuxS-mediated signaling in Streptococcus mutans is involved in regulation of acid and oxidative stress tolerance and biofilm formation. 62
15090509 2004
17
The value of submucous needle aspiration in the prediction of surgical resection line of bronchogenic carcinoma. 62
1914552 1991

Variations for Spinocerebellar Ataxia 18

Expression for Spinocerebellar Ataxia 18

Search GEO for disease gene expression data for Spinocerebellar Ataxia 18.

Pathways for Spinocerebellar Ataxia 18

GO Terms for Spinocerebellar Ataxia 18

Sources for Spinocerebellar Ataxia 18

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....