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: 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: C0002896
Disease: Sideroblastic anemia
Sideroblastic anemia 		0.020 GeneticVariation disease LHGDN Multiple mechanisms for hereditary sideroblastic anemia. 11929048 2002
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: 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: 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 RGD Testing the porphyrinogenicity of propofol in a primed rat model. 7547054 1995
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: C0011853
Disease: Diabetes Mellitus, Experimental
Diabetes Mellitus, Experimental 		0.200 Biomarker disease RGD Heme and hemoproteins in streptozotocin-diabetic female rats. 6688350 1983
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: 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: 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: 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 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 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: C0001430
Disease: Adenoma
Adenoma 		0.010 Biomarker group BEFREE The validation experiment (geNorm) showed that the most stable gene combinations were ALAS1 and GAPDH in NFPA, and PSMC4 and GAPDH in hormone secreting adenomas. 27561203 2016
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 Biomarker group BEFREE We recommend using KALPHA-TBP for the study of T1T2 tumors, RPL27-SHAD for T3T4 tumors, KALPHA-SHAD for N0 tumors, and ALAS-TBP for N+ tumors. 19650912 2009
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
CUI: C0162530
Disease: Porphyria, Erythropoietic
Porphyria, Erythropoietic 		0.010 Biomarker disease BEFREE The treatment of hepatic porphyrias by an RNAi-targeting hepatic ALAS1 is actually tested and may lead to improve the management of acute attacks.In erythropoietic porphyrias, the key role of ALAS2 as a gate keeper of the heme and subsequently hemoglobin synthesis has been demonstrated. 28118224 2017
CUI: C0162531
Disease: Hereditary Coproporphyria
Hereditary Coproporphyria 		0.010 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: C0162532
Disease: Variegate Porphyria
Variegate Porphyria 		0.010 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: C0271650
Disease: Impaired glucose tolerance
Impaired glucose tolerance 		0.010 Biomarker phenotype BEFREE Mice heterozygous null for ALAS1 (A1+/-s) experience impaired glucose tolerance (IGT) and insulin resistance (IR) beyond 20-weeks of age (aged A1+/-s). 29364890 2018
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.010 Biomarker disease BEFREE The use of HPRT1 alone as a reference gene shown in our study was sufficient, but the normalization factors generated from two (HRPT1, ALAS1) or all three genes (HRPT1, ALAS1, K-ALPHA-1) should be considered for an improved reliability of normalization in gene profiling studies of prostate cancer. 16211407 2005
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.010 Biomarker disease BEFREE The use of HPRT1 alone as a reference gene shown in our study was sufficient, but the normalization factors generated from two (HRPT1, ALAS1) or all three genes (HRPT1, ALAS1, K-ALPHA-1) should be considered for an improved reliability of normalization in gene profiling studies of prostate cancer. 16211407 2005