SPG79
MCID: SPS205
MIFTS: 27
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Spastic Paraplegia 79, Autosomal Recessive (SPG79)
Categories:
Bone diseases, Ear diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases, Skin diseases
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MalaCards integrated aliases for Spastic Paraplegia 79, Autosomal Recessive:
Characteristics:Orphanet epidemiological data:58
early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
progressive disorder onset in first decade two unrelated families have been reported (last curated february 2017) HPO:31
spastic paraplegia 79, autosomal recessive:
Inheritance autosomal recessive inheritance Onset and clinical course progressive Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Neuronal diseases Eye diseases Gastrointestinal diseases Skin diseases Respiratory diseases Bone diseases Nephrological diseases Ear diseases Mental diseases
ICD10:
33
Orphanet: 58
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UniProtKB/Swiss-Prot :
73
Spastic paraplegia 79, autosomal recessive: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG79 is characterized by childhood onset blindness, cerebellar ataxia, nystagmus, dorsal column dysfunction, and spasticity with upper motor neuron dysfunction.
MalaCards based summary : Spastic Paraplegia 79, Autosomal Recessive, is also known as neurodegeneration with optic atrophy, childhood-onset, and has symptoms including head titubation, myokymia and muscular fasciculation. An important gene associated with Spastic Paraplegia 79, Autosomal Recessive is UCHL1 (Ubiquitin C-Terminal Hydrolase L1). Affiliated tissues include eye, and related phenotypes are myotonia and intention tremor OMIM : 56 SPG79 is an autosomal recessive progressive neurologic disorder characterized by onset of spastic paraplegia and optic atrophy in the first decade of life. Additional features are variable, but may include peripheral neuropathy, cerebellar ataxia, and cognitive impairment (summary by Rydning et al., 2017). For a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A (270800). (615491) |
Human phenotypes related to Spastic Paraplegia 79, Autosomal Recessive:31 (show all 21)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:615491UMLS symptoms related to Spastic Paraplegia 79, Autosomal Recessive:head titubation, myokymia, muscular fasciculation, cerebellar ataxia, quadriparesis |
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MalaCards organs/tissues related to Spastic Paraplegia 79, Autosomal Recessive:40
Eye
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Articles related to Spastic Paraplegia 79, Autosomal Recessive:
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ClinVar genetic disease variations for Spastic Paraplegia 79, Autosomal Recessive:6
UniProtKB/Swiss-Prot genetic disease variations for Spastic Paraplegia 79, Autosomal Recessive:73
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GEO
for disease gene expression data for Spastic Paraplegia 79, Autosomal Recessive.
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