Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
succinic semialdehyde dehydrogenase deficiency
0.800 GeneticVariation disease BEFREE Our study expands the mutation spectrum of ALDH5A1 and highlights the importance of molecular genetic evaluation in patients with SSADH deficiency. 31117962 2019
succinic semialdehyde dehydrogenase deficiency
0.800 GeneticVariation disease BEFREE Succinic semialdehyde dehydrogenase deficiency (SSADHD) is a rare autosomal recessive disorder of γ-aminobutyric acid (GABA) catabolism caused by mutations in the gene coding for succinic semialdehyde dehydrogenase (ALDH5A1). 31267348 2019
succinic semialdehyde dehydrogenase deficiency
0.800 Biomarker disease BEFREE We present a patient with Rett syndrome (RTT; MECP2) and autosomal-recessive succinic semialdehyde dehydrogenase deficiency (SSADHD; ALDH5A1 (aldehyde dehydrogenase 5a1 = SSADH), in whom the current phenotype exhibits features of SSADHD (hypotonia, global developmental delay) and RTT (hand stereotypies, gait anomalies). 30829465 2019
succinic semialdehyde dehydrogenase deficiency
0.800 CausalMutation disease CLINVAR Psychomotor delay, hypotonia, and behavioural disorders: A case of succinic semialdehyde dehydrogenase deficiency. 26964512 2019
succinic semialdehyde dehydrogenase deficiency
0.800 Biomarker disease CTD_human Toxicologic/transport properties of NCS-382, a γ-hydroxybutyrate (GHB) receptor ligand, in neuronal and epithelial cells: Therapeutic implications for SSADH deficiency, a GABA metabolic disorder. 29031482 2018
succinic semialdehyde dehydrogenase deficiency
0.800 CausalMutation disease CLINVAR SSADH deficiency in an Italian family: a novel ALDH5A1 gene mutation affecting the succinic semialdehyde substrate binding site. 28664505 2017
succinic semialdehyde dehydrogenase deficiency
0.800 GeneticVariation disease BEFREE Mutations in ALDH5A1 gene result in the abnormal accumulation of γ-hydroxybutyrate (GHB), which is pathognomonic of SSADHD. 28664505 2017
succinic semialdehyde dehydrogenase deficiency
0.800 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
succinic semialdehyde dehydrogenase deficiency
0.800 GeneticVariation disease BEFREE Numerous metabolic perturbations unmasked in SSADHD include alterations in oxidative stress parameters, dysregulation of autophagy and mitophagy, dysregulation of both inhibitory and excitatory neurotransmitters and gene expression, and unique subsets of SNP alterations of the SSADH gene (so-called ALDH5A1, or aldehyde dehydrogenase 5A1 gene) on the 6p22 chromosomal arm. 27311541 2016
succinic semialdehyde dehydrogenase deficiency
0.800 GeneticVariation disease BEFREE A study in 2003 described 35 mutations of ALDH5A1 in 54 unrelated families, and the current study and systematic literature review identified nine additional novel mutations in eight unrelated families bringing the total number of unique mutations of ALDH5A1 resulting in SSADH deficiency to 44, and the 44 mutations occur from exon 1 to exon 10. 25431891 2016
succinic semialdehyde dehydrogenase deficiency
0.800 GeneticVariation disease BEFREE Succinic Semialdehyde Dehydrogenase Deficiency in a Chinese Boy: A Novel ALDH5A1 Mutation With Severe Phenotype. 25122112 2015
succinic semialdehyde dehydrogenase deficiency
0.800 Biomarker disease CTD_human Discovery of a series of aromatic lactones as ALDH1/2-directed inhibitors. 25641190 2015
succinic semialdehyde dehydrogenase deficiency
0.800 GeneticVariation disease BEFREE We described a boy with a severe phenotype of succinic semialdehyde dehydrogenase deficiency and novel mutations of ALDH5A1 gene. 25246302 2015
succinic semialdehyde dehydrogenase deficiency
0.800 GeneticVariation disease BEFREE A novel ALDH5A1 mutation is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability in an Iranian family. 23825041 2013
succinic semialdehyde dehydrogenase deficiency
0.800 Biomarker disease CTD_human A novel ALDH5A1 mutation is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability in an Iranian family. 23825041 2013
succinic semialdehyde dehydrogenase deficiency
0.800 Biomarker disease BEFREE Inherited deficiency of SSADH results in accumulation of the neuromodulator γ-hydroxybutyrate (GHB), which likely contributes to some aspects of the neurological phenotype of SSADH deficiency (MIM #271980). 21438145 2011
succinic semialdehyde dehydrogenase deficiency
0.800 Biomarker disease CTD_human [Succinic semialdehyde dehydrogenase deficiency: decrease in 4-OH-butyric acid levels with low doses of vigabatrin]. 20018576 2010
succinic semialdehyde dehydrogenase deficiency
0.800 Biomarker disease BEFREE Therapeutic concepts in patients with SSADH deficiency and preclinical therapeutic experiments are discussed in light of data collected from research in Aldh5a1-/- mice and animal studies of GHB pharmacology; these studies are the foundation for novel working approaches, including pharmacological and dietary trials, which are presented for future evaluation in this disease. 17457693 2007
succinic semialdehyde dehydrogenase deficiency
0.800 GeneticVariation disease BEFREE Diagnosis of SSADH deficiency in our patient was established by demonstration of absent enzyme activity in isolated leucocytes, and was associated with a novel missense mutation (c.587G>A; p.Gly196Asp) in the SSADH coding sequence. 16545979 2006
succinic semialdehyde dehydrogenase deficiency
0.800 Biomarker disease BEFREE Elucidation of the precise fundamental mechanisms of the perturbation of the GABA(A)R-mediated function in SSADH(-/-) mice could lead to the development of novel treatment modalities designed to reduce the neurological morbidity in children with SSADH deficiency. 16240371 2006
succinic semialdehyde dehydrogenase deficiency
0.800 Biomarker disease GENOMICS_ENGLAND Succinic semialdehyde dehydrogenase deficiency: clinical, biochemical and molecular characterization of a new patient with severe phenotype and a novel mutation. 16542398 2006
succinic semialdehyde dehydrogenase deficiency
0.800 Biomarker disease BEFREE One of these, succinate semialdehyde dehydrogenase (SSADH) deficiency (or gamma-hydroxybutyric aciduria; OMIM 271980; E.C. 16203683 2005
succinic semialdehyde dehydrogenase deficiency
0.800 CausalMutation disease CLINVAR Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency. 14635103 2003
succinic semialdehyde dehydrogenase deficiency
0.800 GeneticVariation disease UNIPROT Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency. 14635103 2003
succinic semialdehyde dehydrogenase deficiency
0.800 GeneticVariation disease UNIPROT Mutation analysis in a patient with succinic semialdehyde dehydrogenase deficiency: a compound heterozygote with 103-121del and 1460T > A of the ALDH5A1 gene. 11901270 2002