SPG49
MCID: SPS126
MIFTS: 43
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Spastic Paraplegia 49, Autosomal Recessive (SPG49)
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 49, Autosomal Recessive:
Characteristics:Orphanet epidemiological data:58
hereditary sensory and autonomic neuropathy due to tecpr2 mutation
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy; OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
onset in the first 2 years of life central apneic episodes may be fatal described in individuals of jewish bukharian descent HPO:31Classifications:
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
ICD10:
32
33
Orphanet: 58
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UniProtKB/Swiss-Prot :
73
Spastic paraplegia 49, 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. 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. SPG49 is characterized by delayed psychomotor development, mental retardation, and onset of spastic paraplegia in the first decade. Affected individuals also have dysmorphic features, thin corpus callosum on brain imaging, and episodes of central apnea, which may be fatal.
MalaCards based summary : Spastic Paraplegia 49, Autosomal Recessive, also known as spg49, is related to neuroaxonal dystrophy and spastic paraparesis, and has symptoms including gait ataxia An important gene associated with Spastic Paraplegia 49, Autosomal Recessive is TECPR2 (Tectonin Beta-Propeller Repeat Containing 2). Affiliated tissues include brain, and related phenotypes are recurrent respiratory infections and intellectual disability Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in mutation in the TECPR2 gene on chromosome 14q32. NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 320385 Definition Hereditary sensory and autonomic neuropathy due to TECPR2 mutation is a rare genetic peripheral neuropathy characterized by early hypotonia evolving to spastic paraparesis, areflexia, decreased pain and temperature sensitivity, autonomic neuropathy, gastroesophageal reflux disease, recurrent pneumonia and respiratory problems. Patients also have intellectual disability and dysmorphic features, including mild brachycephalic microcephaly , short broad neck, low anterior hairline and coarse face. Visit the Orphanet disease page for more resources. OMIM : 56 SPG49 is an autosomal recessive complicated form of spastic paraplegia, a neurodegenerative disorder of the corticospinal tracts. It is characterized by delayed psychomotor development, mental retardation, and onset of spastic paraplegia in the first decade. Affected individuals also have dysmorphic features, thin corpus callosum on brain imaging, and episodes of central apnea, which may be fatal (summary by Oz-Levi et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see 270800. (615031) |
Human phenotypes related to Spastic Paraplegia 49, Autosomal Recessive:58 31 (show all 27)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:615031UMLS symptoms related to Spastic Paraplegia 49, Autosomal Recessive:gait ataxia |
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MalaCards organs/tissues related to Spastic Paraplegia 49, Autosomal Recessive:40
Brain
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Articles related to Spastic Paraplegia 49, Autosomal Recessive:
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ClinVar genetic disease variations for Spastic Paraplegia 49, Autosomal Recessive:6 (show top 50) (show all 159)
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for disease gene expression data for Spastic Paraplegia 49, Autosomal Recessive.
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Cellular components related to Spastic Paraplegia 49, Autosomal Recessive according to GeneCards Suite gene sharing:
Biological processes related to Spastic Paraplegia 49, Autosomal Recessive according to GeneCards Suite gene sharing:
Molecular functions related to Spastic Paraplegia 49, Autosomal Recessive according to GeneCards Suite gene sharing:
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