Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 GeneticVariation disease BEFREE Autosomal recessive hereditary spastic paraplegia (ARHSP) with thin corpus callosum (TCC) is a common and clinically distinct form of familial spastic paraplegia that is linked to the SPG11 locus on chromosome 15 in most affected families. 17322883 2007
CUI: C0004936
Disease: Mental disorders
Mental disorders 		0.010 GeneticVariation group BEFREE The initial presentations in the nonindex familial cases varied but most frequently consisted of personality and behavioral changes that preceded cognitive impairment (19 [43%]), followed by psychiatric illness (14 [33%]), dementia without behavioral change (5 [11%]), amyotrophic lateral sclerosis (5 [11%]), and parkinsonism (2[5%]). 10404983 1999
CUI: C0238052
Disease: Xanthomatosis, Cerebrotendinous
Xanthomatosis, Cerebrotendinous 		0.020 GeneticVariation disease BEFREE <b>Results:</b> Fifty four patients with genetically confirmed HSP diagnosis, 36 with spastic paraplegia type 4 (SPG4), 5 SPG11, 4 SPG5, 4 cerebrotendinous xanthomatosis (CTX), 3 SPG7 and 2 SPG3A, and 10 healthy, unrelated control subjects, with similar age, sex, and education participated in the study. 31231294 2019
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.020 Biomarker group BEFREE Spastic paraplegia gene 11(SPG11)-linked hereditary spastic paraplegia is a complex monogenic neurodegenerative disease that in addition to spastic paraplegia is characterized by childhood onset cognitive impairment, thin corpus callosum and enlarged ventricles. 30476097 2019
CUI: C0238052
Disease: Xanthomatosis, Cerebrotendinous
Xanthomatosis, Cerebrotendinous 		0.020 Biomarker disease BEFREE NGS panel diagnostic yield was 60% for autosomal dominant HSP (6/10, all SPG4), 47.4% for autosomal recessive HSP (9/19: 5 SPG11, 2 SPG7, 1 SPG5 and 1 cerebrotendinous xanthomatosis), and 50% for patients with TCC (3/6, all SPG11). 29246610 2017
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.020 GeneticVariation disease BEFREE The overlap of axonal Charcot-Marie-Tooth disease with both diseases, as well as the common autosomal recessive inheritance pattern of thin corpus callosum and axonal Charcot-Marie-Tooth disease in three related patients, prompted us to analyse the ALS5/SPG11/KIAA1840 gene in affected individuals with autosomal recessive axonal Charcot-Marie-Tooth disease. 26556829 2016
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.020 GeneticVariation disease BEFREE Biallelic loss-of-function mutations in SPG11 cause a wide spectrum of recessively inherited, neurodegenerative disorders including hereditary spastic paraplegia (HSP), amyotrophic lateral sclerosis, and Charcot-Marie-Tooth disease. 27071356 2016
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.020 GeneticVariation disease BEFREE We hereby present the case of a 30-year-old female patient with complex autosomal recessive HSP with thinning of the corpus callosum (TCC) and dementia that was compound heterozygous with two novel mutations in the SPG11 gene. 27318863 2016
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		0.020 Biomarker group BEFREE SPG11 belongs to the autosomal recessive hereditary spastic paraplegias (HSP) and presents during childhood or puberty with a complex clinical phenotype encompassing learning difficulties, ataxia, peripheral neuropathy, amyotrophy, and mental retardation. 27318863 2016
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		0.020 Biomarker group BEFREE Although neuropathy is occasionally present in SPG11, in our SPG11 patients reported here it was particularly severe, highlighting the association of axonal neuropathy with SPG11 and the late manifestation of axonal peripheral nerve damage. 27544499 2016
CUI: C0497327
Disease: Dementia
Dementia 		0.020 GeneticVariation disease BEFREE We hereby present the case of a 30-year-old female patient with complex autosomal recessive HSP with thinning of the corpus callosum (TCC) and dementia that was compound heterozygous with two novel mutations in the SPG11 gene. 27318863 2016
CUI: C1859807
Disease: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder) 		0.020 GeneticVariation disease BEFREE Mutations in the alsin (ALS2), senataxin (SETX), and spatacsin (SPG11) genes have been associated with familial ALS with juvenile onset and slow progression, whereas the genetic architecture of sporadic juvenile ALS remains unclear. 26972116 2016
CUI: C1859807
Disease: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder) 		0.020 GeneticVariation disease BEFREE Exome sequencing reveals SPG11 mutations causing juvenile ALS. 22154821 2012
CUI: C0752105
Disease: Parkinsonism, Juvenile
Parkinsonism, Juvenile 		0.020 GeneticVariation disease BEFREE Mutations in the SPG11 gene have been identified to be a major cause of autosomal recessive hereditary spastic paraplegia with thin corpus callosum and recently also proven to be responsible for juvenile parkinsonism associated with spastic paraplegia. 21381113 2011
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.020 GeneticVariation group BEFREE Autosomal recessive hereditary spastic paraplegia (AR HSP) with thin corpus callosum (TCC) is a rare neurodegenerative disorder often caused by mutations in the gene encoding for spatacsin at the SPG11 locus on chromosome 15q. 19224311 2009
CUI: C0752105
Disease: Parkinsonism, Juvenile
Parkinsonism, Juvenile 		0.020 GeneticVariation disease BEFREE SPG11 spastic paraplegia. A new cause of juvenile parkinsonism. 19224311 2009
CUI: C2931356
Disease: Spastic paraplegia type 5A, recessive
Spastic paraplegia type 5A, recessive 		0.020 GeneticVariation disease BEFREE Mutations in the spatacsin gene have recently been identified as the genetic cause of autosomal-recessive spastic paraplegia (SPG) with thin corpus callosum, mapping to chromosome 15p13-21. 18787847 2009
CUI: C0278061
Disease: Abnormal mental state
Abnormal mental state 		0.020 Biomarker phenotype BEFREE Hereditary spastic paraplegia with mental impairment and thin corpus callosum in Tunisia: SPG11, SPG15, and further genetic heterogeneity. 18332254 2008
CUI: C0683322
Disease: Mental impairment
Mental impairment 		0.020 Biomarker disease BEFREE Hereditary spastic paraplegia with mental impairment and thin corpus callosum in Tunisia: SPG11, SPG15, and further genetic heterogeneity. 18332254 2008
CUI: C1306341
Disease: Mental handicap
Mental handicap 		0.020 Biomarker disease BEFREE Hereditary spastic paraplegia with mental impairment and thin corpus callosum in Tunisia: SPG11, SPG15, and further genetic heterogeneity. 18332254 2008
CUI: C2931356
Disease: Spastic paraplegia type 5A, recessive
Spastic paraplegia type 5A, recessive 		0.020 GeneticVariation disease BEFREE Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration. 18079167 2008
CUI: C0278061
Disease: Abnormal mental state
Abnormal mental state 		0.020 Biomarker phenotype BEFREE SPG11, an AR-HSP (synonym: HSP11), is a complicated HSP associated with a slowly progressive spastic paraparesis, mental impairment and the development of a thin corpus callosum (TCC) during the course of the disease. 16773502 2006
CUI: C0683322
Disease: Mental impairment
Mental impairment 		0.020 Biomarker disease BEFREE SPG11, an AR-HSP (synonym: HSP11), is a complicated HSP associated with a slowly progressive spastic paraparesis, mental impairment and the development of a thin corpus callosum (TCC) during the course of the disease. 16773502 2006
CUI: C1306341
Disease: Mental handicap
Mental handicap 		0.020 Biomarker disease BEFREE SPG11, an AR-HSP (synonym: HSP11), is a complicated HSP associated with a slowly progressive spastic paraparesis, mental impairment and the development of a thin corpus callosum (TCC) during the course of the disease. 16773502 2006
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.020 GeneticVariation disease BEFREE The initial presentations in the nonindex familial cases varied but most frequently consisted of personality and behavioral changes that preceded cognitive impairment (19 [43%]), followed by psychiatric illness (14 [33%]), dementia without behavioral change (5 [11%]), amyotrophic lateral sclerosis (5 [11%]), and parkinsonism (2[5%]). 10404983 1999