SPG46
MCID: SPS109
MIFTS: 39
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Spastic Paraplegia 46, Autosomal Recessive (SPG46)
Categories:
Bone diseases, Ear diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Spastic Paraplegia 46, Autosomal Recessive:
Characteristics:Orphanet epidemiological data:59
autosomal recessive spastic paraplegia type 46
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
progressive disorder onset in childhood (range 2 to 16 years) some patients present with spasticity, whereas others present with cerebellar ataxia some patients may have normal brain imaging HPO:32
spastic paraplegia 46, autosomal recessive:
Onset and clinical course slow progression progressive Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Neuronal diseases Eye diseases Mental diseases Skin diseases Nephrological diseases Ear diseases Gastrointestinal diseases Bone diseases
ICD10:
33
34
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OMIM
:
57
Autosomal recessive spastic paraplegia-46 (SPG46) is a neurodegenerative disorder characterized by onset in childhood of slowly progressive spastic paraplegia and cerebellar signs. Some patients have cognitive impairment, cataracts, and cerebral, cerebellar, and corpus callosum atrophy on brain imaging (summary by Boukhris et al., 2010 and Martin et al., 2013). (614409)
MalaCards based summary : Spastic Paraplegia 46, Autosomal Recessive, also known as spg46, is related to paraplegia and hereditary spastic paraplegia, and has symptoms including abnormal pyramidal signs and cerebellar ataxia. An important gene associated with Spastic Paraplegia 46, Autosomal Recessive is GBA2 (Glucosylceramidase Beta 2). Affiliated tissues include brain, skin and bone, and related phenotypes are nystagmus and hyperreflexia Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in mutation in the GBA2 gene on chromosome 9p. UniProtKB/Swiss-Prot : 75 Spastic paraplegia 46, autosomal recessive: A neurodegenerative disorder characterized by onset in childhood of slowly progressive spastic paraplegia and cerebellar signs. Some patients have cognitive impairment, cataracts, and cerebral, cerebellar, and corpus callosum atrophy on brain imaging. |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:614409Human phenotypes related to Spastic Paraplegia 46, Autosomal Recessive:59 32 (show all 45)
UMLS symptoms related to Spastic Paraplegia 46, Autosomal Recessive:abnormal pyramidal signs, cerebellar ataxia GenomeRNAi Phenotypes related to Spastic Paraplegia 46, Autosomal Recessive according to GeneCards Suite gene sharing:26
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MalaCards organs/tissues related to Spastic Paraplegia 46, Autosomal Recessive:41
Brain,
Skin,
Bone,
Eye
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UniProtKB/Swiss-Prot genetic disease variations for Spastic Paraplegia 46, Autosomal Recessive:75
ClinVar genetic disease variations for Spastic Paraplegia 46, Autosomal Recessive:6 (show all 15)
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Search
GEO
for disease gene expression data for Spastic Paraplegia 46, Autosomal Recessive.
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Cellular components related to Spastic Paraplegia 46, Autosomal Recessive according to GeneCards Suite gene sharing:
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