SCA18
MCID: SPN094
MIFTS: 31
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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
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MalaCards integrated aliases for Spinocerebellar Ataxia 18:
Characteristics:Orphanet epidemiological data:58
spinocerebellar ataxia type 18
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; HPO:31
spinocerebellar ataxia 18:
Inheritance autosomal dominant inheritance Onset and clinical course onset Classifications:
MalaCards categories:
Global: Rare diseases Genetic diseases Metabolic diseases Fetal diseases Anatomical: Neuronal diseases Eye diseases Liver diseases Skin diseases Ear diseases Muscle diseases Mental diseases
ICD10:
33
Orphanet: 58
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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. |
Human phenotypes related to Spinocerebellar Ataxia 18:58 31 (show all 25)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:607458UMLS symptoms related to Spinocerebellar Ataxia 18:tremor, dysdiadochokinesis |
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Genetic tests related to Spinocerebellar Ataxia 18:
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MalaCards organs/tissues related to Spinocerebellar Ataxia 18:40
Skeletal Muscle
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Articles related to Spinocerebellar Ataxia 18:
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Search
GEO
for disease gene expression data for Spinocerebellar Ataxia 18.
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Cellular components related to Spinocerebellar Ataxia 18 according to GeneCards Suite gene sharing:
Biological processes related to Spinocerebellar Ataxia 18 according to GeneCards Suite gene sharing:
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