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SPG51
MCID: SPS152
MIFTS: 43
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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, Muscle diseases, Nephrological diseases, Neuronal diseases, Oral diseases, Rare diseases, Respiratory diseases, Skin diseases
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MalaCards integrated aliases for Spastic Paraplegia 51, Autosomal Recessive:
Characteristics:Inheritance:
Spastic Paraplegia 51, Autosomal Recessive:
Autosomal recessive 57
Severe Intellectual Disability and Progressive Spastic Paraplegia:
Autosomal recessive 58
Prevelance:
Severe Intellectual Disability and Progressive Spastic Paraplegia:
<1/1000000 (Worldwide) 58
Age Of Onset:
Severe Intellectual Disability and Progressive Spastic Paraplegia:
Infancy,Neonatal 58
Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Neuronal diseases Mental diseases Eye diseases Gastrointestinal diseases Skin diseases Respiratory diseases Bone diseases Nephrological diseases Ear diseases Muscle diseases Oral diseases
Orphanet: 58
Rare neurological diseases |
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UniProtKB/Swiss-Prot: 73 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 stuttering and 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 trans-Golgi Network Vesicle Budding. Affiliated tissues include brain and t cells, and related phenotypes are microcephaly and intellectual disability, severe OMIM®: 57 Spastic paraplegia-51 (SPG51) is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity. Affected individuals also have global developmental delay with impaired intellectual development and poor or absent speech (summary by Moreno-De-Luca et al., 2011). For a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A (270800). (613744) (Updated 24-Oct-2022) GARD: 19 Severe intellectual disability and progressive spastic paraplegia is a rare complex spastic paraplegia characterized by an early onset hypotonia that progresses to spasticity, global developmental delay, severe intellectual disability and speech impairment, microcephaly, short stature and dysmorphic features. Patients often become non-ambulatory, and some develop seizures and stereotypic laughter. Orphanet: 58 Severe intellectual disability and progressive spastic paraplegia is a rare complex spastic paraplegia characterized by an early onset hypotonia that progresses to spasticity, global developmental delay, severe intellectual disability and speech impairment, microcephaly, short stature and dysmorphic features. Patients often become non-ambulatory, and some develop seizures and stereotypic laughter. |
Human phenotypes related to Spastic Paraplegia 51, Autosomal Recessive:58 30 (show top 50) (show all 54)
Symptoms via clinical synopsis from OMIM®:57 (Updated 24-Oct-2022)Clinical features from OMIM®:613744 (Updated 24-Oct-2022)UMLS symptoms related to Spastic Paraplegia 51, Autosomal Recessive:seizures |
Interventional clinical trials:
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Genetic tests related to Spastic Paraplegia 51, Autosomal Recessive:
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Organs/tissues related to Spastic Paraplegia 51, Autosomal Recessive:
MalaCards :
Brain,
T Cells
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Articles related to Spastic Paraplegia 51, Autosomal Recessive:(show all 16)
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Genes related to Spastic Paraplegia 51, Autosomal Recessive (4 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Spastic Paraplegia 51, Autosomal Recessive:5 (show all 33)
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Search
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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