SPG43
MCID: SPS130
MIFTS: 39
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Spastic Paraplegia 43, Autosomal Recessive (SPG43)
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 43, Autosomal Recessive:
Characteristics:Orphanet epidemiological data:58
autosomal recessive spastic paraplegia type 43
Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood; OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
variable severity slowly progressive onset in first decade one family of mali origin has been reported (last curated january 2013) HPO:31
spastic paraplegia 43, autosomal recessive:
Inheritance autosomal recessive inheritance Onset and clinical course variable expressivity slow progression 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
ICD10:
32
33
Orphanet: 58
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UniProtKB/Swiss-Prot :
73
Spastic paraplegia 43, autosomal recessive: 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. SP43 is characterized by childhood onset of progressive spasticity affecting the lower and upper limbs.
MalaCards based summary : Spastic Paraplegia 43, Autosomal Recessive, also known as spg43, is related to neurodegeneration with brain iron accumulation 4 and neurodegeneration with brain iron accumulation, and has symptoms including muscle spasticity An important gene associated with Spastic Paraplegia 43, Autosomal Recessive is C19orf12 (Chromosome 19 Open Reading Frame 12). Related phenotypes are babinski sign and distal amyotrophy Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in mutation in the C19ORF12 gene on chromosome 19q12. OMIM : 56 Spastic paraplegia-43 (SPG43) is an autosomal recessive neurodegenerative disorder characterized by childhood onset of progressive spasticity affecting the lower and upper limbs (summary by Meilleur et al., 2010). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see 270800. (615043) |
Human phenotypes related to Spastic Paraplegia 43, Autosomal Recessive:58 31 (show all 24)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:615043UMLS symptoms related to Spastic Paraplegia 43, Autosomal Recessive:muscle spasticity |
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Articles related to Spastic Paraplegia 43, Autosomal Recessive:
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ClinVar genetic disease variations for Spastic Paraplegia 43, Autosomal Recessive:6 (show all 26)
UniProtKB/Swiss-Prot genetic disease variations for Spastic Paraplegia 43, Autosomal Recessive:73
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GEO
for disease gene expression data for Spastic Paraplegia 43, Autosomal Recessive.
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Cellular components related to Spastic Paraplegia 43, Autosomal Recessive according to GeneCards Suite gene sharing:
Biological processes related to Spastic Paraplegia 43, Autosomal Recessive according to GeneCards Suite gene sharing:
Molecular functions related to Spastic Paraplegia 43, Autosomal Recessive according to GeneCards Suite gene sharing:
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