SPG12
MCID: SPS131
MIFTS: 41
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Spastic Paraplegia 12, Autosomal Dominant (SPG12)
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 12, Autosomal Dominant:
Characteristics:Orphanet epidemiological data:58
autosomal dominant spastic paraplegia type 12
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant
Miscellaneous:
progressive disorder later onset has been reported age of onset 5 to 22 years (mean 6.9) HPO:31
spastic paraplegia 12, 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 Nephrological diseases Gastrointestinal diseases Skin diseases Respiratory diseases Bone diseases Ear diseases Muscle diseases Mental diseases
ICD10:
32
33
Orphanet: 58
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UniProtKB/Swiss-Prot :
73
Spastic paraplegia 12, 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.
MalaCards based summary : Spastic Paraplegia 12, Autosomal Dominant, also known as hereditary spastic paraplegia 12, is related to paraplegia and hereditary spastic paraplegia, and has symptoms including urgency of micturition An important gene associated with Spastic Paraplegia 12, Autosomal Dominant is RTN2 (Reticulon 2), and among its related pathways/superpathways is Endocytosis. Affiliated tissues include spinal cord, and related phenotypes are progressive spastic paraplegia and difficulty walking Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in mutation in the RTN2 gene on chromosome 19q13. OMIM® : 57 Spastic paraplegia-12 is an autosomal dominant neurodegenerative disorder characterized by lower limb spasticity and hyperreflexia, resulting in walking difficulties. Some patients may have urinary symptoms and distal sensory impairment. The age at onset is variable and can range from childhood to adulthood (summary by Montenegro et al., 2012). For a general description and a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A (182600). (604805) (Updated 05-Mar-2021) |
Human phenotypes related to Spastic Paraplegia 12, Autosomal Dominant:58 31 (show all 31)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:604805 (Updated 05-Mar-2021)UMLS symptoms related to Spastic Paraplegia 12, Autosomal Dominant:urgency of micturition |
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MalaCards organs/tissues related to Spastic Paraplegia 12, Autosomal Dominant:40
Spinal Cord
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Articles related to Spastic Paraplegia 12, Autosomal Dominant:(show all 12)
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ClinVar genetic disease variations for Spastic Paraplegia 12, Autosomal Dominant:6 (show all 21)
UniProtKB/Swiss-Prot genetic disease variations for Spastic Paraplegia 12, Autosomal Dominant:73
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GEO
for disease gene expression data for Spastic Paraplegia 12, Autosomal Dominant.
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Cellular components related to Spastic Paraplegia 12, Autosomal Dominant according to GeneCards Suite gene sharing:
Biological processes related to Spastic Paraplegia 12, Autosomal Dominant according to GeneCards Suite gene sharing:
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