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: C0162557
Disease: Liver Failure, Acute
Liver Failure, Acute
0.010 AlteredExpression disease BEFREE In the present study, we examined expression of HO-1 as well as the non-specific delta-aminolevulinate synthase (ALAS-N, or ALAS1), the rate-limiting enzyme in heme catabolism and biosynthesis, respectively, in the livers of patients with ALF. 15547665 2004
CUI: C0162557
Disease: Liver Failure, Acute
Liver Failure, Acute
0.010 AlteredExpression disease LHGDN These findings suggest that, in the liver of ALF patients, there may be an increase in free heme concentration which up-regulates HO-1 gene expression, while down-regulating ALAS1 gene expression, resulting in markedly altered heme metabolism and liver function. 15547665 2004
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: C3149631
Disease: MELORHEOSTOSIS, ISOLATED
MELORHEOSTOSIS, ISOLATED
0.010 AlteredExpression disease BEFREE Mouse erythroleukemia (MEL) cells transformed by Friend virus and induced to undergo erythroid differentiation by treatment with hexamethylenebisacetamide (HMBA) increase erythroid specific 5-aminolevulinate synthase (ALAS-E) mRNA levels by 4-15-fold and decrease "housekeeping" 5-aminolevulinate synthase (ALAS-N) mRNA levels by 1.2-1.4-fold. 8843957 1996
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: C0235031
Disease: Neurologic Symptoms
Neurologic Symptoms
0.010 AlteredExpression group BEFREE Acute porphyric attacks, precipitated by fasting, certain hormones and some drugs, involve induction of 5-ALAS secondarily to depletion of the above pool, and the resultant elevation of 5-ALA levels initiates the abdominal and neurological symptoms of attacks. 31443750 2019
CUI: C3203509
Disease: Neuropsychiatric syndrome
Neuropsychiatric syndrome
0.010 Biomarker disease BEFREE Acute porphyrias are characterized by a neuropsychiatric syndrome with intermittent induction of hepatic ALAS1 (δ-aminolaevulinate synthase 1), the first and rate-limiting enzyme of the haem pathway. 22070747 2012
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: 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
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: 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: 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: 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: 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