SCA18
MCID: SPN094
MIFTS: 31

Spinocerebellar Ataxia 18 (SCA18)

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 18

MalaCards integrated aliases for Spinocerebellar Ataxia 18:

Name: Spinocerebellar Ataxia 18 57 53 29 13 72
Spinocerebellar Ataxia Type 18 12 53 59 15
Sca18 57 53 59
Smna 57 53
Sensorimotor Neuropathy with Ataxia, Autosomal Dominant; Smna 57
Sensorimotor Neuropathy with Ataxia, Autosomal Dominant 57
Sensorimotor Neuropathy with Ataxia Autosomal Dominant 53

Characteristics:

Orphanet epidemiological data:

59
spinocerebellar ataxia type 18
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in second and third decades


HPO:

32
spinocerebellar ataxia 18:
Inheritance autosomal dominant inheritance
Onset and clinical course onset


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050969
MESH via Orphanet 45 C537197
ICD10 via Orphanet 34 G11.8
UMLS via Orphanet 73 C1843884
Orphanet 59 ORPHA98771
MedGen 42 C1843884
UMLS 72 C1843884

Summaries for Spinocerebellar Ataxia 18

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 98771DefinitionSpinocerebellar 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.EpidemiologyPrevalence is unknown. Only 26 cases in a 5-generation American family of Irish ancestry have been reported to date.Clinical descriptionOnset 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.EtiologySCA18 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.PrognosisPrognosis 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 dominant 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 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 Type 19/22 Spinocerebellar Ataxia Autosomal Recessive 5

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

(show all 23)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant cerebellar ataxia 29.3 SPTBN2 PLEKHG4 CACNA1A ATXN7 ATXN3
2 hereditary ataxia 27.9 SPTBN2 PLEKHG4 CACNA1A ATXN7 ATXN3
3 spinocerebellar ataxia, autosomal recessive 18 11.4
4 ataxia and polyneuropathy, adult-onset 10.3
5 peripheral nervous system disease 10.2
6 axonal neuropathy 10.2
7 neuropathy 10.2
8 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 9.8 SPTBN2 CACNA1A
9 primary cerebellar degeneration 9.6 CACNA1A ATXN3
10 spinal and bulbar muscular atrophy, x-linked 1 9.4 ATXN7 ATXN3
11 friedreich ataxia 1 9.4 CACNA1A ATXN3
12 spinocerebellar ataxia 1 9.2 CACNA1A ATXN7 ATXN3
13 nervous system disease 9.2 CACNA1A ATXN3
14 spinocerebellar ataxia 6 9.1 CACNA1A ATXN7 ATXN3
15 spinocerebellar ataxia 17 9.1 CACNA1A ATXN7 ATXN3
16 spinocerebellar ataxia 2 9.1 CACNA1A ATXN7 ATXN3
17 spinocerebellar ataxia 12 9.1 CACNA1A ATXN7 ATXN3
18 dentatorubral-pallidoluysian atrophy 9.1 CACNA1A ATXN7 ATXN3
19 machado-joseph disease 9.1 CACNA1A ATXN7 ATXN3
20 autosomal genetic disease 9.0 CACNA1A ATXN7 ATXN3
21 spinocerebellar ataxia 31 8.7 PLEKHG4 CACNA1A ATXN7 ATXN3
22 cerebellar disease 8.3 SPTBN2 PLEKHG4 CACNA1A ATXN7 ATXN3
23 aceruloplasminemia 8.2 SPTBN2 PLEKHG4 CACNA1A ATXN7 ATXN3

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:

59 32 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001324
2 areflexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001284
3 gait ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002066
4 sensory impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0003474
5 dysarthria 59 32 frequent (33%) Frequent (79-30%) HP:0001260
6 hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000365
7 dysmetria 59 32 frequent (33%) Frequent (79-30%) HP:0001310
8 pes cavus 59 32 frequent (33%) Frequent (79-30%) HP:0001761
9 sensorimotor neuropathy 59 32 frequent (33%) Frequent (79-30%) HP:0007141
10 muscle fibrillation 59 32 frequent (33%) Frequent (79-30%) HP:0010546
11 lower limb hyperreflexia 59 32 frequent (33%) Frequent (79-30%) HP:0002395
12 hyporeflexia of lower limbs 59 32 frequent (33%) Frequent (79-30%) HP:0002600
13 nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000639
14 skeletal muscle atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0003202
15 cerebellar atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001272
16 head tremor 59 32 occasional (7.5%) Occasional (29-5%) HP:0002346
17 peripheral axonal neuropathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0003477
18 titubation 59 32 occasional (7.5%) Occasional (29-5%) HP:0030187
19 tremor 32 HP:0001337
20 babinski sign 32 HP:0003487
21 sensory axonal neuropathy 32 HP:0003390
22 dysdiadochokinesis 32 HP:0002075
23 hyporeflexia 32 HP:0001265
24 progressive gait ataxia 32 HP:0007240
25 limb muscle weakness 32 HP:0003690

Symptoms via clinical synopsis from OMIM:

57
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

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 18 29

Anatomical Context for Spinocerebellar Ataxia 18

MalaCards organs/tissues related to Spinocerebellar Ataxia 18:

41
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. 8
19409521 2009
2
Autosomal dominant sensory/motor neuropathy with Ataxia (SMNA): Linkage to chromosome 7q22-q32. 8
11992570 2002
3
Identification of IFRD1 variant in a Han Chinese family with autosomal dominant hereditary spastic paraplegia associated with peripheral neuropathy and ataxia. 38
29362493 2018
4
Molecular genetic analysis of a new form of spinocerebellar ataxia in a Chinese Han family. 38
20641168 2010
5
The wide spectrum of spinocerebellar ataxias (SCAs). 38
15895552 2005

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 presynapse GO:0098793 8.96 SPTBN2 CACNA1A
2 nuclear matrix GO:0016363 8.62 ATXN7 ATXN3

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

# Name GO ID Score Top Affiliating Genes
1 microtubule cytoskeleton organization GO:0000226 8.96 ATXN7 ATXN3
2 synapse assembly GO:0007416 8.62 SPTBN2 CACNA1A

Molecular functions related to Spinocerebellar Ataxia 18 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 thiol-dependent ubiquitinyl hydrolase activity GO:0036459 8.32 ATXN3

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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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