ALAS1, 5'-aminolevulinate synthase 1, 211

N. diseases: 27; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0032708
Disease: Disorders of Porphyrin Metabolism
Disorders of Porphyrin Metabolism 		0.520 GeneticVariation group BEFREE In patients, ALAS enzyme activity is affected in most of the mutations causing non-syndromic SA and in several porphyrias. 30737140 2019
CUI: C0032708
Disease: Disorders of Porphyrin Metabolism
Disorders of Porphyrin Metabolism 		0.520 Biomarker group BEFREE These results, taken together, permit us to further an INH inhibition kinetic mechanism for ALAS, which suggests the possible use of INH-derived drugs in treating patients with XLPP and potentially other protoporphyrin-accumulating porphyrias. 27838491 2017
CUI: C0032708
Disease: Disorders of Porphyrin Metabolism
Disorders of Porphyrin Metabolism 		0.520 Biomarker group CTD_human Effects of new anticonvulsant medications on porphyrin synthesis in cultured liver cells: potential implications for patients with acute porphyria. 9222176 1997
CUI: C0032708
Disease: Disorders of Porphyrin Metabolism
Disorders of Porphyrin Metabolism 		0.520 Biomarker group RGD Testing the porphyrinogenicity of propofol in a primed rat model. 7547054 1995
CUI: C0035410
Disease: Rhabdomyolysis
Rhabdomyolysis 		0.200 Biomarker phenotype RGD Free heme pool and activity of key enzyme of heme synthesis in the rat liver under action of agents affecting reduced glutathione level. 16846079 2006
CUI: C0020542
Disease: Pulmonary Hypertension
Pulmonary Hypertension 		0.200 Biomarker phenotype RGD In this study, we examined expression of HO-1 as well as non-specific delta-aminolevulinate synthase (ALAS1), the rate-limiting enzyme in heme catabolism and biosynthesis, respectively, in a rat model of PH produced by subcutaneous injection of MCT (60 mg/kg). 16181105 2005
CUI: C0243026
Disease: Sepsis
Sepsis 		0.200 Biomarker disease RGD Protective role of heme oxygenase-1 in the intestinal tissue injury in an experimental model of sepsis. 12627002 2003
CUI: C0011853
Disease: Diabetes Mellitus, Experimental
Diabetes Mellitus, Experimental 		0.200 Biomarker disease RGD Heme and hemoproteins in streptozotocin-diabetic female rats. 6688350 1983
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria 		0.080 Biomarker disease BEFREE The clinical performance of givosiran revealed that suppression of ALAS1 by GalNac-decorated siRNAs represents an additional approach for the treatment of patients with AIP that manifests recurrent acute neurovisceral attacks. 31792921 2020
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria 		0.080 AlteredExpression disease BEFREE Induction of delta aminolevulinic acid synthase 1 ( ALAS1) gene expression and accumulation of neurotoxic intermediates result in neurovisceral attacks and disease manifestations in patients with acute intermittent porphyria, a rare inherited disease of heme biosynthesis. 30726693 2019
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria 		0.080 Biomarker disease BEFREE To introduce next generation sequencing (NGS) to the porphyria diagnosis, we designed a panel that contained four genes, <i>ALAS1, HMBS</i>, <i>CPOX</i> and <i>PPOX</i> for mutational analysis of acute intermittent porphyria (AIP), hereditary coproporphyria (HCP) and variegate porphyria (VP). 31154864 2019
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria 		0.080 AlteredExpression disease BEFREE As expected, the ALAS1 expression increased 4.5-fold and 15.9-fold in the WT and AIP mice, respectively. 30777612 2019
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria 		0.080 Biomarker disease BEFREE Altogether, this study has important impacts on AIP care underlying that hemin needs to be restricted to severe neurovisceral crisis and suggests that alternative treatment targeting the liver such as ALAS1 and HO1 inhibitors, and anti-inflammatory therapies should be considered in patients with recurrent AIP. 29498764 2018
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria 		0.080 AlteredExpression disease BEFREE Levels of clock-controlled gene mRNAs showed significant increases over baseline in all subjects at 5 a.m. and 11 p.m., whereas mRNA levels of ALAS1, ALAS2 and PBGD were increased only at 11 p.m. in subjects with active AIP. 23650938 2013
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria 		0.080 AlteredExpression disease BEFREE Negative feedback regulation of ALAS-1 by the end product heme is well documented and provides the foundation for heme treatment of acute porphyrias, a group of diseases caused by genetic defects in the heme biosynthesis pathway and exacerbated by controlled up-regulation of ALAS-1. 21659532 2011
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria 		0.080 AlteredExpression disease BEFREE Many interactions and cross-talk take place within the tangle of genomic circuits that control ALAS1-transcription, which may explain the extreme inter- and intra-individual variability in morbidity in acute porphyria. 17298222 2006
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.020 AlteredExpression disease BEFREE We found that the expression levels of the rate-limiting heme synthetic enzyme ALAS1 and heme degradation enzyme HO-2 are selectively decreased in AD patients and mice. 30723777 2019
CUI: C0002896
Disease: Sideroblastic anemia
Sideroblastic anemia 		0.020 GeneticVariation disease BEFREE In patients, ALAS enzyme activity is affected in most of the mutations causing non-syndromic SA and in several porphyrias. 30737140 2019
CUI: C0162568
Disease: Erythropoietic Protoporphyria
Erythropoietic Protoporphyria 		0.020 AlteredExpression disease BEFREE Moreover, ALAS2 gain of function mutations is responsible for X-linked protoporphyria and increased ALAS1 activity lead to acute attacks of hepatic porphyrias. 30737140 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.020 AlteredExpression disease BEFREE The relative expression of ALAS1 mRNA, the first and rate-limiting enzyme for heme biosynthesis under normal physiological conditions, was significantly (p<0.05) reduced by nearly 90% in AD compared to control. 19477221 2009
CUI: C0162568
Disease: Erythropoietic Protoporphyria
Erythropoietic Protoporphyria 		0.020 GeneticVariation disease BEFREE In about 2% of patients, overt disease was recently shown to be caused by gain-of-function mutations in the erythroid-specific aminolevulinic acid synthase 2 (ALAS2/ALAS, EC 2.3.1.27) gene and named X-linked dominant protoporphyria. 19744342 2009
CUI: C0002896
Disease: Sideroblastic anemia
Sideroblastic anemia 		0.020 GeneticVariation disease LHGDN Multiple mechanisms for hereditary sideroblastic anemia. 11929048 2002
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.010 GeneticVariation disease BEFREE The meta-analysis between BD and T2D identified six significant SNPs, three of which were located in ALAS1 (best SNP: rs352165, p = 3.4E-08). 31754094 2019
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 GeneticVariation disease BEFREE The meta-analysis between BD and T2D identified six significant SNPs, three of which were located in ALAS1 (best SNP: rs352165, p = 3.4E-08). 31754094 2019
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.010 Biomarker disease BEFREE In contrast, protein and mRNA levels of heme synthesis rate limiting enzyme aminolevulinic acid synthase-1 (ALAS1) were unchanged in SZ derived LCLs. 30948194 2019