MCID: SPN094
MIFTS: 36

Spinocerebellar Ataxia 18

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 18

MalaCards integrated aliases for Spinocerebellar Ataxia 18:

Name: Spinocerebellar Ataxia 18 57 53 29 73
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


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: 98771Disease definitionSpinocerebellar 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 genemutation 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 spinocerebellar ataxia, autosomal recessive 18, 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 nystagmus and dysarthria

Description from OMIM: 607458

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, 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 18 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 19)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant cerebellar ataxia 27.5 ATXN3 ATXN7 CACNA1A PLEKHG4 SCA18 SPTBN2
2 spinocerebellar ataxia, autosomal recessive 18 11.1
3 neuropathy 10.0
4 friedreich ataxia 1 9.4 ATXN3 CACNA1A
5 spinal and bulbar muscular atrophy, x-linked 1 9.4 ATXN3 ATXN7
6 central nervous system disease 9.3 ATXN3 CACNA1A
7 restless legs syndrome 9.2 ATXN3 CACNA1A
8 nervous system disease 9.0 ATXN3 CACNA1A
9 spinocerebellar ataxia 6 8.9 ATXN3 ATXN7 CACNA1A
10 spinocerebellar ataxia 17 8.9 ATXN3 ATXN7 CACNA1A
11 spinocerebellar ataxia 2 8.9 ATXN3 ATXN7 CACNA1A
12 spinocerebellar ataxia 1 8.9 ATXN3 ATXN7 CACNA1A
13 spinocerebellar ataxia 12 8.8 ATXN3 ATXN7 CACNA1A
14 dentatorubral-pallidoluysian atrophy 8.8 ATXN3 ATXN7 CACNA1A
15 machado-joseph disease 8.8 ATXN3 ATXN7 CACNA1A
16 spinocerebellar ataxia 31 8.4 ATXN3 ATXN7 CACNA1A PLEKHG4
17 cerebellar disease 7.8 ATXN3 ATXN7 CACNA1A PLEKHG4 SPTBN2
18 hereditary ataxia 7.8 ATXN3 ATXN7 CACNA1A PLEKHG4 SPTBN2
19 aceruloplasminemia 7.8 ATXN3 ATXN7 CACNA1A PLEKHG4 SPTBN2

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



Diseases related to Spinocerebellar Ataxia 18

Symptoms & Phenotypes for Spinocerebellar Ataxia 18

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
dysmetria
areflexia
dysdiadochokinesis
hyporeflexia
more
Skeletal Feet:
pes cavus


Clinical features from OMIM:

607458

Human phenotypes related to Spinocerebellar Ataxia 18:

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

UMLS symptoms related to Spinocerebellar Ataxia 18:


tremor, dysdiadochokinesis

Drugs & Therapeutics for Spinocerebellar Ataxia 18

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 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

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 nuclear matrix GO:0016363 8.62 ATXN3 ATXN7

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 ATXN3 ATXN7
2 synapse assembly GO:0007416 8.62 CACNA1A SPTBN2

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 8.62 ATXN3 ATXN7

Sources for Spinocerebellar Ataxia 18

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
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