Spastic Paraplegia 49, Autosomal Recessive

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OMIM 57 615031 Disease Ontology 12 DOID:0110801 ICD10 33 G11.4 Orphanet 59 ORPHA320385 ICD10 via Orphanet 34 G11.4

MedGen 42 C3542549 CN164591 MeSH 44 D015419 SNOMED-CT via HPO 69 258211005 13649004 271611007 248149005 95427009 12351004 699222000 228156007 247578003 91138005 128613002 246545002 313307000 84757009 91175000 192967009 8011004 224958001 95646004 349006 37280007 32566006 16331000 235595009 698065002 278849000 418143002 52522001 9447003 25136009 204043002 237836003 more UMLS 73 C3542549

UniProtKB/Swiss-Prot : ⁷⁵ 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 spastic paraplegia 48, autosomal recessive and spastic paraplegia 35, autosomal recessive, and has symptoms including gait ataxia An important gene associated with Spastic Paraplegia 49, Autosomal Recessive is TECPR2 (Tectonin Beta-Propeller Repeat Containing 2), and among its related pathways/superpathways are Senescence and Autophagy in Cancer and Pink/Parkin Mediated Mitophagy. Affiliated tissues include brain, and related phenotypes are short neck and intellectual disability

Disease Ontology : ¹² A hereditary spastic paraplegia that has material basis in mutation in the TECPR2 gene on chromosome 14q32.

OMIM : ⁵⁷ 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)

Clinical features from OMIM:

615031

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 49, Autosomal Recessive

Search GEO for disease gene expression data for Spastic Paraplegia 49, Autosomal Recessive.