SCA18
MCID: SPN094
MIFTS: 37

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 58 54 30 13 74
Spinocerebellar Ataxia Type 18 12 54 60 15
Sca18 58 54 60
Smna 58 54
Sensorimotor Neuropathy with Ataxia, Autosomal Dominant; Smna 58
Sensorimotor Neuropathy with Ataxia, Autosomal Dominant 58
Sensorimotor Neuropathy with Ataxia Autosomal Dominant 54

Characteristics:

Orphanet epidemiological data:

60
spinocerebellar ataxia type 18
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset in second and third decades


HPO:

33
spinocerebellar ataxia 18:
Inheritance autosomal dominant inheritance
Onset and clinical course onset


Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Spinocerebellar Ataxia 18

NIH Rare Diseases : 54 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, skin and liver, and related phenotypes are muscle weakness and gait ataxia

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.

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 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 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 21)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant cerebellar ataxia 30.1 ATXN3 ATXN7 CACNA1A PLEKHG4 SPTBN2
2 spinocerebellar ataxia, autosomal recessive 18 11.3
3 cone-rod dystrophy and hearing loss 2 11.1
4 neuropathy 10.2
5 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 9.9 CACNA1A SPTBN2
6 primary cerebellar degeneration 9.7 ATXN3 CACNA1A
7 spinal and bulbar muscular atrophy, x-linked 1 9.6 ATXN3 ATXN7
8 friedreich ataxia 1 9.6 ATXN3 CACNA1A
9 spinocerebellar ataxia 1 9.5 ATXN3 ATXN7 CACNA1A
10 nervous system disease 9.5 ATXN3 CACNA1A
11 spinocerebellar ataxia 6 9.5 ATXN3 ATXN7 CACNA1A
12 spinocerebellar ataxia 17 9.5 ATXN3 ATXN7 CACNA1A
13 spinocerebellar ataxia 2 9.5 ATXN3 ATXN7 CACNA1A
14 spinocerebellar ataxia 12 9.4 ATXN3 ATXN7 CACNA1A
15 dentatorubral-pallidoluysian atrophy 9.4 ATXN3 ATXN7 CACNA1A
16 machado-joseph disease 9.4 ATXN3 ATXN7 CACNA1A
17 autosomal genetic disease 9.4 ATXN3 ATXN7 CACNA1A
18 spinocerebellar ataxia 31 9.2 ATXN3 ATXN7 CACNA1A PLEKHG4
19 cerebellar disease 8.9 ATXN3 ATXN7 CACNA1A PLEKHG4 SPTBN2
20 hereditary ataxia 8.9 ATXN3 ATXN7 CACNA1A PLEKHG4 SPTBN2
21 aceruloplasminemia 8.9 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

Human phenotypes related to Spinocerebellar Ataxia 18:

60 33 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscle weakness 60 33 hallmark (90%) Very frequent (99-80%) HP:0001324
2 gait ataxia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002066
3 areflexia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001284
4 sensory impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0003474
5 dysarthria 60 33 frequent (33%) Frequent (79-30%) HP:0001260
6 hearing impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000365
7 dysmetria 60 33 frequent (33%) Frequent (79-30%) HP:0001310
8 pes cavus 60 33 frequent (33%) Frequent (79-30%) HP:0001761
9 muscle fibrillation 60 33 frequent (33%) Frequent (79-30%) HP:0010546
10 lower limb hyperreflexia 60 33 frequent (33%) Frequent (79-30%) HP:0002395
11 sensorimotor neuropathy 60 33 frequent (33%) Frequent (79-30%) HP:0007141
12 hyporeflexia of lower limbs 60 33 frequent (33%) Frequent (79-30%) HP:0002600
13 nystagmus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000639
14 skeletal muscle atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0003202
15 cerebellar atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0001272
16 head tremor 60 33 occasional (7.5%) Occasional (29-5%) HP:0002346
17 peripheral axonal neuropathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0003477
18 titubation 60 33 occasional (7.5%) Occasional (29-5%) HP:0030187
19 tremor 33 HP:0001337
20 babinski sign 33 HP:0003487
21 sensory axonal neuropathy 33 HP:0003390
22 dysdiadochokinesis 33 HP:0002075
23 hyporeflexia 33 HP:0001265
24 progressive gait ataxia 33 HP:0007240
25 limb muscle weakness 33 HP:0003690

Symptoms via clinical synopsis from OMIM:

58
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

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 30

Anatomical Context for Spinocerebellar Ataxia 18

MalaCards organs/tissues related to Spinocerebellar Ataxia 18:

42
Skeletal Muscle, Skin, Liver, Eye

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 presynapse GO:0098793 8.96 CACNA1A SPTBN2
2 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 8.32 ATXN3

Sources for Spinocerebellar Ataxia 18

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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