SPG57
MCID: SPS137
MIFTS: 35
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Spastic Paraplegia 57, Autosomal Recessive (SPG57)
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 57, Autosomal Recessive:
Characteristics:Orphanet epidemiological data:59
autosomal recessive spastic paraplegia type 57
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
onset in first years of life one family has been reported (last curated february 2014) HPO:32Classifications:
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
34
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UniProtKB/Swiss-Prot
:
74
Spastic paraplegia 57, autosomal recessive: A complicated 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. Complicated forms are recognized by additional variable features including spastic quadriparesis, seizures, dementia, amyotrophy, extrapyramidal disturbance, cerebral or cerebellar atrophy, optic atrophy, and peripheral neuropathy, as well as by extra neurological manifestations.
MalaCards based summary : Spastic Paraplegia 57, Autosomal Recessive, also known as spg57, is related to spastic paraplegia 3, autosomal dominant and spastic paraplegia 11, autosomal recessive, and has symptoms including unspecified visual loss An important gene associated with Spastic Paraplegia 57, Autosomal Recessive is TFG (Trafficking From ER To Golgi Regulator). Affiliated tissues include eye, and related phenotypes are abnormality of peripheral nerve conduction and difficulty climbing stairs Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in mutation in the TFG gene on chromosome 3q12. |
Human phenotypes related to Spastic Paraplegia 57, Autosomal Recessive:59 32 (show all 17)
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:615658UMLS symptoms related to Spastic Paraplegia 57, Autosomal Recessive:unspecified visual loss |
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MalaCards organs/tissues related to Spastic Paraplegia 57, Autosomal Recessive:41
Eye
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Articles related to Spastic Paraplegia 57, Autosomal Recessive:
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ClinVar genetic disease variations for Spastic Paraplegia 57, Autosomal Recessive:6 (show top 50) (show all 52)
UniProtKB/Swiss-Prot genetic disease variations for Spastic Paraplegia 57, Autosomal Recessive:74
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Search
GEO
for disease gene expression data for Spastic Paraplegia 57, Autosomal Recessive.
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Cellular components related to Spastic Paraplegia 57, Autosomal Recessive according to GeneCards Suite gene sharing:
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