Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Hereditary spastic paralysis, infantile onset ascending
0.800 Biomarker disease BEFREE Our study delineates the phenotypic spectrum of IAHSP and ALS2-related disorders and provides valuable insights into the natural disease course. 30128655 2018
Hereditary spastic paralysis, infantile onset ascending
0.800 Biomarker disease GENOMICS_ENGLAND Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan. 27601211 2016
Hereditary spastic paralysis, infantile onset ascending
0.800 GeneticVariation disease BEFREE A novel homozygous mutation in ALS2 gene in four siblings with infantile-onset ascending hereditary spastic paralysis. 24704789 2015
Hereditary spastic paralysis, infantile onset ascending
0.800 GeneticVariation disease BEFREE Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a rare, early-onset autosomal recessive motor neuron disease associated with mutations in ALS2. 24144828 2014
Hereditary spastic paralysis, infantile onset ascending
0.800 GermlineCausalMutation disease ORPHANET Infantile-onset ascending hereditary spastic paraplegia with bulbar involvement due to the novel ALS2 mutation c.2761C>T. 24315819 2014
Hereditary spastic paralysis, infantile onset ascending
0.800 Biomarker disease GENOMICS_ENGLAND Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing. 23881933 2013
Hereditary spastic paralysis, infantile onset ascending
0.800 Biomarker disease BEFREE Mutations in the ALSIN gene cause JALS type 2 (ALS2) as well as juvenile primary lateral sclerosis and infantile-onset ascending spastic paralysis. 22248478 2012
Hereditary spastic paralysis, infantile onset ascending
0.800 GeneticVariation disease BEFREE Maternal uniparental heterodisomy with partial isodisomy of a chromosome 2 carrying a splice acceptor site mutation (IVS9-2A>T) in ALS2 causes infantile-onset ascending spastic paralysis (IAHSP). 18810511 2009
Hereditary spastic paralysis, infantile onset ascending
0.800 GeneticVariation disease BEFREE Novel homozygous ALS2 nonsense mutation (p.Gln715X) in sibs with infantile-onset ascending spastic paralysis: the first cases from northwestern Europe. 18523452 2008
Hereditary spastic paralysis, infantile onset ascending
0.800 Biomarker disease BEFREE ALS2 is a causative gene for a juvenile autosomal recessive form of motor neuron diseases (MNDs), including amyotrophic lateral sclerosis 2 (ALS2), juvenile primary lateral sclerosis, and infantile-onset ascending hereditary spastic paralysis. 17566607 2007
Hereditary spastic paralysis, infantile onset ascending
0.800 GeneticVariation disease BEFREE Mutations in Alsin are associated with chronic juvenile amyotrophic lateral sclerosis (ALS2), juvenile primary lateral sclerosis and infantile-onset ascending spastic paralysis. 17855450 2007
Hereditary spastic paralysis, infantile onset ascending
0.800 GeneticVariation disease BEFREE We report a novel ALS2 missense mutation in patients affected by IAHSP. 16718699 2006
Hereditary spastic paralysis, infantile onset ascending
0.800 Biomarker disease BEFREE The causative gene for JPLS was found to be ALS2, which is also responsible for a recessive form of amyotrophic lateral sclerosis, for infantile onset ascending hereditary spastic paralysis (IAHSP) and for a form of complicated hereditary spastic paraplegia (cHSP). 16670179 2006
Hereditary spastic paralysis, infantile onset ascending
0.800 GeneticVariation disease BEFREE The first nonsense mutation in alsin results in a homogeneous phenotype of infantile-onset ascending spastic paralysis with bulbar involvement in two siblings. 12919135 2003
Hereditary spastic paralysis, infantile onset ascending
0.800 GeneticVariation disease BEFREE The syndrome of IAHSP is genetically heterogeneous, and no clinical sign can help to distinguish patients with and without Alsin mutations. 12601111 2003
Hereditary spastic paralysis, infantile onset ascending
0.800 Biomarker disease GENOMICS_ENGLAND Genotyping and linkage analyses demonstrated that this infantile-onset ascending hereditary spastic paralysis (IAHSP) is allelic to the condition previously reported as juvenile amyotrophic lateral sclerosis at the ALS2 locus on chromosome 2q33-35 (LOD score 6.66 at recombination fraction 0). 12145748 2002
Hereditary spastic paralysis, infantile onset ascending
0.800 GeneticVariation disease BEFREE Genotyping and linkage analyses demonstrated that this infantile-onset ascending hereditary spastic paralysis (IAHSP) is allelic to the condition previously reported as juvenile amyotrophic lateral sclerosis at the ALS2 locus on chromosome 2q33-35 (LOD score 6.66 at recombination fraction 0). 12145748 2002
Hereditary spastic paralysis, infantile onset ascending
0.800 CausalMutation disease CLINVAR Genotyping and linkage analyses demonstrated that this infantile-onset ascending hereditary spastic paralysis (IAHSP) is allelic to the condition previously reported as juvenile amyotrophic lateral sclerosis at the ALS2 locus on chromosome 2q33-35 (LOD score 6.66 at recombination fraction 0). 12145748 2002
Hereditary spastic paralysis, infantile onset ascending
0.800 Biomarker disease GENOMICS_ENGLAND A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. 11586298 2001
Hereditary spastic paralysis, infantile onset ascending
0.800 GeneticVariation disease CLINVAR
Hereditary spastic paralysis, infantile onset ascending
0.800 Biomarker disease CTD_human
CUI: C1853396
Disease: Primary lateral sclerosis juvenile
Primary lateral sclerosis juvenile
0.760 GeneticVariation disease BEFREE Biallelic mutations of the alsin Rho guanine nucleotide exchange factor (ALS2) gene cause a group of overlapping autosomal recessive neurodegenerative disorders including infantile-onset ascending hereditary spastic paralysis (IAHSP), juvenile primary lateral sclerosis (JPLS), and juvenile amyotrophic lateral sclerosis (JALS/ALS2), caused by retrograde degeneration of the upper motor neurons of the pyramidal tracts. 30128655 2018
CUI: C1853396
Disease: Primary lateral sclerosis juvenile
Primary lateral sclerosis juvenile
0.760 Biomarker disease GENOMICS_ENGLAND Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan. 27601211 2016
CUI: C1853396
Disease: Primary lateral sclerosis juvenile
Primary lateral sclerosis juvenile
0.760 GeneticVariation disease BEFREE Recessive mutations in the alsin gene cause three clinically distinct motor neuron diseases: juvenile amyotrophic lateral sclerosis (ALS2), juvenile primary lateral sclerosis (JPLS) and infantile-onset ascending hereditary spastic paraplegia (IAHSP). 24315819 2014
CUI: C1853396
Disease: Primary lateral sclerosis juvenile
Primary lateral sclerosis juvenile
0.760 Biomarker disease GENOMICS_ENGLAND Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing. 23881933 2013