SCA18
MCID: SPN094
MIFTS: 31

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

Aliases & Classifications for Spinocerebellar Ataxia 18

MalaCards integrated aliases for Spinocerebellar Ataxia 18:

Name: Spinocerebellar Ataxia 18 56 52 13 71
Spinocerebellar Ataxia Type 18 12 52 58 29 15
Sca18 56 52 58
Smna 56 52
Sensorimotor Neuropathy with Ataxia, Autosomal Dominant; Smna 56
Sensorimotor Neuropathy with Ataxia, Autosomal Dominant 56
Sensorimotor Neuropathy with Ataxia Autosomal Dominant 52

Characteristics:

Orphanet epidemiological data:

58
spinocerebellar ataxia type 18
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
onset in second and third decades


HPO:

31
spinocerebellar ataxia 18:
Inheritance autosomal dominant inheritance
Onset and clinical course onset


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050969
OMIM 56 607458
OMIM Phenotypic Series 56 PS164400
MESH via Orphanet 44 C537197
ICD10 via Orphanet 33 G11.8
UMLS via Orphanet 72 C1843884
Orphanet 58 ORPHA98771
MedGen 41 C1843884
UMLS 71 C1843884

Summaries for Spinocerebellar Ataxia 18

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 98771 Definition 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. Epidemiology Prevalence is unknown. Only 26 cases in a 5-generation American family of Irish ancestry have been reported to date. Clinical description Onset is in the 2nd and 3rd decades of life with symptomatic onset ranging from 13 to 27 years. Patients initially present with axonal sensory neuropathy, while cerebellar ataxia and motor neuron dysfunction develop later. Etiology SCA18 has been linked to chromosome 7q22-q23 but the responsible gene mutation has not yet been identified. Both SCA3 and SCA4 are also associated with a peripheral neuropathy and should be taken into account in the differential diagnosis . Prognosis Prognosis is unclear. However, mean disease duration from age at onset of illness to age at last examination is about 24 years in the reported cases. Visit the Orphanet disease page for more resources.

MalaCards based summary : Spinocerebellar Ataxia 18, also known as spinocerebellar ataxia type 18, is related to autosomal recessive cerebellar ataxia and hereditary ataxia, 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

Disease Ontology : 12 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 6 family:

Spinocerebellar Ataxia 31 Spinocerebellar Ataxia 29
Spinocerebellar Ataxia 34 Spinocerebellar Ataxia 1
Spinocerebellar Ataxia 7 Spinocerebellar Ataxia 2
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 18 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 36)
# Related Disease Score Top Affiliating Genes
1 autosomal recessive cerebellar ataxia 29.1 SPTBN2 GRID2 ATXN7
2 hereditary ataxia 28.0 TTBK2 TMEM240 SPTBN2 GRID2 ATXN7 AFG3L2
3 autosomal dominant cerebellar ataxia 27.1 TTBK2 TMEM240 SPTBN2 SCA18 PLEKHG4 ATXN7
4 spinocerebellar ataxia, autosomal recessive 18 11.6
5 peripheral nervous system disease 10.2
6 axonal neuropathy 10.2
7 neuropathy 10.2
8 cerebellar ataxia type 41 10.1 GRID2 AFG3L2
9 ataxia and polyneuropathy, adult-onset 10.0
10 autosomal dominant cerebellar ataxia type iii 9.9 TTBK2 PLEKHG4
11 spastic paraplegia 25, autosomal recessive 9.9 TTBK2 PLEKHG4
12 spastic paraplegia 19, autosomal dominant 9.9 TTBK2 PLEKHG4
13 spastic paraplegia 34, x-linked 9.9 TTBK2 PLEKHG4
14 spinocerebellar ataxia, autosomal recessive 14 9.9 SPTBN2 AFG3L2
15 israeli tick typhus 9.9 SPTBN2 PLEKHG4
16 brill-zinsser disease 9.9 SPTBN2 PLEKHG4
17 endemic typhus 9.8 SPTBN2 PLEKHG4
18 spinocerebellar ataxia 5 9.8 SPTBN2 GRID2
19 rocky mountain spotted fever 9.8 SPTBN2 PLEKHG4
20 spotted fever 9.8 SPTBN2 PLEKHG4
21 boutonneuse fever 9.7 SPTBN2 PLEKHG4
22 spinocerebellar ataxia 13 9.7 TTBK2 SPTBN2
23 spinocerebellar ataxia 4 9.7 PLEKHG4 ATXN7
24 spinocerebellar ataxia 25 9.6 TTBK2 TMEM240 PLEKHG4
25 spinocerebellar ataxia 15 9.6 TTBK2 SPTBN2 AFG3L2
26 spinocerebellar ataxia 20 9.6 TMEM240 SPTBN2 PLEKHG4
27 spinocerebellar ataxia, autosomal recessive 8 9.5 SPTBN2 ATXN7
28 episodic ataxia, type 2 9.4 SPTBN2 ATXN7
29 epidemic typhus 9.4 SPTBN2 PLEKHG4
30 episodic ataxia, type 6 9.4 SPTBN2 GRID2 ATXN7
31 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 9.3 SPTBN2 ATXN7
32 cerebellar ataxia type 9 9.3 SPTBN2 PLEKHG4 ATXN7
33 episodic ataxia 9.0 TTBK2 SPTBN2 ATXN7 AFG3L2
34 spinocerebellar ataxia 21 8.9 TTBK2 TMEM240 SPTBN2 PLEKHG4 AFG3L2
35 cerebellar disease 8.7 SPTBN2 PLEKHG4 GRID2 ATXN7 AFG3L2
36 spinocerebellar ataxia 30 8.6 TTBK2 SPTBN2 PLEKHG4 ATXN7 AFG3L2

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 31 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001324
2 areflexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001284
3 gait ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002066
4 sensory impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0003474
5 hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000365
6 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
7 dysmetria 58 31 frequent (33%) Frequent (79-30%) HP:0001310
8 pes cavus 58 31 frequent (33%) Frequent (79-30%) HP:0001761
9 sensorimotor neuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0007141
10 lower limb hyperreflexia 58 31 frequent (33%) Frequent (79-30%) HP:0002395
11 muscle fibrillation 58 31 frequent (33%) Frequent (79-30%) HP:0010546
12 hyporeflexia of lower limbs 58 31 frequent (33%) Frequent (79-30%) HP:0002600
13 skeletal muscle atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003202
14 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
15 cerebellar atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001272
16 head tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0002346
17 peripheral axonal neuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003477
18 titubation 58 31 occasional (7.5%) Occasional (29-5%) HP:0030187
19 tremor 31 HP:0001337
20 dysdiadochokinesis 31 HP:0002075
21 hyporeflexia 31 HP:0001265
22 babinski sign 31 HP:0003487
23 progressive gait ataxia 31 HP:0007240
24 sensory axonal neuropathy 31 HP:0003390
25 limb muscle weakness 31 HP:0003690

Symptoms via clinical synopsis from OMIM:

56
Neurologic Peripheral Nervous System:
sensory neuropathy
nerve conduction velocity studies show axonal sensory neuropathy

Neurologic Central Nervous System:
tremor
areflexia
dysmetria
dysdiadochokinesis
hyporeflexia
more
Muscle Soft Tissue:
muscle atrophy

Head And Neck Eyes:
nystagmus

Skeletal Feet:
pes cavus

Clinical features from OMIM:

607458

UMLS symptoms related to Spinocerebellar Ataxia 18:


tremor, dysdiadochokinesis

Drugs & Therapeutics for Spinocerebellar Ataxia 18

Search Clinical Trials , 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 29

Anatomical Context for Spinocerebellar Ataxia 18

MalaCards organs/tissues related to Spinocerebellar Ataxia 18:

40
Skeletal Muscle

Publications for Spinocerebellar Ataxia 18

Articles related to Spinocerebellar Ataxia 18:

# Title Authors PMID Year
1
IFRD1 is a candidate gene for SMNA on chromosome 7q22-q23. 56
19409521 2009
2
Autosomal dominant sensory/motor neuropathy with Ataxia (SMNA): Linkage to chromosome 7q22-q32. 56
11992570 2002
3
Long-term follow-up in infantile-onset SCAR18: A case report. 61
32387255 2020
4
Autosomal recessive spinocerebellar ataxia 18 caused by homozygous exon 14 duplication in GRID2 and review of the literature. 61
32170608 2020

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

Cellular components related to Spinocerebellar Ataxia 18 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 parallel fiber to Purkinje cell synapse GO:0098688 8.62 SPTBN2 GRID2

Biological processes related to Spinocerebellar Ataxia 18 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of microtubule depolymerization GO:0007026 8.62 ATXN7 TTBK2

Sources for Spinocerebellar Ataxia 18

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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