SPG51
MCID: SPS152
MIFTS: 40
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Spastic Paraplegia 51, Autosomal Recessive (SPG51)
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 51, Autosomal Recessive:
Characteristics:Orphanet epidemiological data:58
severe intellectual disability and progressive spastic paraplegia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
onset at birth two families have been reported (as of june 2011) HPO:31
spastic paraplegia 51, autosomal recessive:
Inheritance autosomal recessive inheritance Onset and clinical course congenital onset 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
Orphanet: 58
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UniProtKB/Swiss-Prot :
73
Spastic paraplegia 51, autosomal recessive: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. SPG51 is a non-progressive disorder of movement and/or posture resulting from defects in the developing central nervous system. Affected individuals manifest motor and posture impairments often associated with epilepsy and disturbances of cognition, behavior, sensation, and communication.
MalaCards based summary : Spastic Paraplegia 51, Autosomal Recessive, also known as spg51, is related to hereditary spastic paraplegia 51 and ap-4-associated hereditary spastic paraplegia, and has symptoms including seizures An important gene associated with Spastic Paraplegia 51, Autosomal Recessive is AP4E1 (Adaptor Related Protein Complex 4 Subunit Epsilon 1), and among its related pathways/superpathways are Vesicle-mediated transport and Clathrin derived vesicle budding. Related phenotypes are microcephaly and intellectual disability, severe OMIM : 56 Spastic paraplegia-51 is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development (summary by Moreno-De-Luca et al., 2011). (613744) |
Human phenotypes related to Spastic Paraplegia 51, Autosomal Recessive:58 31 (show top 50) (show all 52)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:613744UMLS symptoms related to Spastic Paraplegia 51, Autosomal Recessive:seizures |
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Articles related to Spastic Paraplegia 51, Autosomal Recessive:(show all 14)
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ClinVar genetic disease variations for Spastic Paraplegia 51, Autosomal Recessive:6
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GEO
for disease gene expression data for Spastic Paraplegia 51, Autosomal Recessive.
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Cellular components related to Spastic Paraplegia 51, Autosomal Recessive according to GeneCards Suite gene sharing:
Biological processes related to Spastic Paraplegia 51, Autosomal Recessive according to GeneCards Suite gene sharing:
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