Spastic Paraplegia 49, Autosomal Recessive (SPG49)

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Disease Ontology 12 DOID:0110801 OMIM 56 615031 OMIM Phenotypic Series 56 PS303350 MeSH 43 D015419 ICD10 32 G11.4

ICD10 via Orphanet 33 G11.4 Orphanet 58 ORPHA320385 MedGen 41 C3542549 CN164591 SNOMED-CT via HPO 68 12351004 128613002 13649004 16331000 192967009 204043002 224958001 228156007 235595009 237836003 246545002 247578003 248149005 25136009 258211005 271611007 278849000 313307000 32566006 349006 37280007 418143002 52522001 698065002 699222000 8011004 84757009 91138005 91175000 9447003 95427009 95646004 more UMLS 71 C3542549

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)

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.