SPG80
MCID: SPS232
MIFTS: 25
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Spastic Paraplegia 80, Autosomal Dominant (SPG80)
Categories:
Bone diseases, Ear diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases, Skin diseases
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MalaCards integrated aliases for Spastic Paraplegia 80, Autosomal Dominant:Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant
Miscellaneous:
progressive disorder mean age at onset 8 years HPO:31
spastic paraplegia 80, autosomal dominant:
Inheritance autosomal dominant 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 Muscle diseases Mental diseases |
OMIM® :
57
Spastic paraplegia-80 (SPG80) is an autosomal dominant juvenile-onset neurologic disorder characterized by onset of progressive spasticity and hyperreflexia affecting mainly the lower limbs and resulting in difficulty walking or loss of independent ambulation, sometimes as early as the second decade. Some patients may have cerebellar signs and mild cognitive impairment, but most have a pure form of the disorder (summary by Farazi Fard et al., 2019).
For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A (182600). (618418) (Updated 05-Mar-2021)
MalaCards based summary : Spastic Paraplegia 80, Autosomal Dominant, also known as spg80, is related to hereditary spastic paraplegia and paraplegia. An important gene associated with Spastic Paraplegia 80, Autosomal Dominant is UBAP1 (Ubiquitin Associated Protein 1). Affiliated tissues include cerebellum, and related phenotypes are ataxia and mental deterioration UniProtKB/Swiss-Prot : 73 Spastic paraplegia 80, autosomal dominant: 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. |
Human phenotypes related to Spastic Paraplegia 80, Autosomal Dominant:31 (show all 10)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:618418 (Updated 05-Mar-2021) |
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MalaCards organs/tissues related to Spastic Paraplegia 80, Autosomal Dominant:40
Cerebellum
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Articles related to Spastic Paraplegia 80, Autosomal Dominant:
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ClinVar genetic disease variations for Spastic Paraplegia 80, Autosomal Dominant:6
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GEO
for disease gene expression data for Spastic Paraplegia 80, Autosomal Dominant.
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