CYB561, cytochrome b561, 1534

N. diseases: 12; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4748569
Disease: ORTHOSTATIC HYPOTENSION 2
ORTHOSTATIC HYPOTENSION 2 		0.400 GeneticVariation disease UNIPROT Mutations in CYB561 Causing a Novel Orthostatic Hypotension Syndrome. 29343526 2018
CUI: C4748569
Disease: ORTHOSTATIC HYPOTENSION 2
ORTHOSTATIC HYPOTENSION 2 		0.400 CausalMutation disease CLINVAR
CUI: C0020651
Disease: Hypotension, Orthostatic
Hypotension, Orthostatic 		0.120 GeneticVariation phenotype BEFREE We performed autonomic evaluations in 4 patients with lifelong orthostatic hypotension in whom <i>CYB561</i> mutations were determined by genomic sequencing. 31822578 2020
CUI: C0020651
Disease: Hypotension, Orthostatic
Hypotension, Orthostatic 		0.120 GeneticVariation phenotype BEFREE This study is the first to implicate cytochrome b561 in disease by showing that pathogenic mutations in <i>CYB561</i> cause an as yet unknown disease in neurotransmitter metabolism causing orthostatic hypotension. 29343526 2018
CUI: C0020651
Disease: Hypotension, Orthostatic
Hypotension, Orthostatic 		0.120 Biomarker phenotype HPO
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		0.100 Biomarker disease HPO
CUI: C0853068
Disease: Decreased glomerular filtration rate
Decreased glomerular filtration rate 		0.100 Biomarker phenotype HPO
CUI: C0011570
Disease: Mental Depression
Mental Depression 		0.010 AlteredExpression disease BEFREE In addition, six glucocorticoid receptor pathway genes (Slc22a5, Aqp1, Stat5a, Ampd3, Plekhf1, and Cyb561) were upregulated in GF mice, and of these only two (Stat5a and Ampd3) were upregulated in LPS-treated mice, whereas the shared gene, Stat5a, was downregulated in "depression microbiota" recipient mice. 30194287 2018
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.010 AlteredExpression disease BEFREE In addition, six glucocorticoid receptor pathway genes (Slc22a5, Aqp1, Stat5a, Ampd3, Plekhf1, and Cyb561) were upregulated in GF mice, and of these only two (Stat5a and Ampd3) were upregulated in LPS-treated mice, whereas the shared gene, Stat5a, was downregulated in "depression microbiota" recipient mice. 30194287 2018
CUI: C0342687
Disease: dopamine beta hydroxylase deficiency
dopamine beta hydroxylase deficiency 		0.010 Biomarker disease BEFREE The CYB561 protein defect leads to a shortage of ascorbate inside the catecholamine secretory vesicles leading to a functional dopamine β-hydroxylase deficiency. 29343526 2018
CUI: C0344315
Disease: Depressed mood
Depressed mood 		0.010 AlteredExpression phenotype BEFREE In addition, six glucocorticoid receptor pathway genes (Slc22a5, Aqp1, Stat5a, Ampd3, Plekhf1, and Cyb561) were upregulated in GF mice, and of these only two (Stat5a and Ampd3) were upregulated in LPS-treated mice, whereas the shared gene, Stat5a, was downregulated in "depression microbiota" recipient mice. 30194287 2018
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.010 Biomarker disease BEFREE Because non-neuronal cells in the central nervous system contained peptidyl alpha-amidating monooxygenase (PAM), to which cytochrome b561 donates its electrons, we used RT-PCR to document the coexpression of cytochrome b561 with PAM and dopamine beta-hydroxylase (DBH) in glioblastoma cells. 9778036 1998
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.010 Biomarker disease BEFREE Because non-neuronal cells in the central nervous system contained peptidyl alpha-amidating monooxygenase (PAM), to which cytochrome b561 donates its electrons, we used RT-PCR to document the coexpression of cytochrome b561 with PAM and dopamine beta-hydroxylase (DBH) in glioblastoma cells. 9778036 1998
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.010 Biomarker disease BEFREE Because non-neuronal cells in the central nervous system contained peptidyl alpha-amidating monooxygenase (PAM), to which cytochrome b561 donates its electrons, we used RT-PCR to document the coexpression of cytochrome b561 with PAM and dopamine beta-hydroxylase (DBH) in glioblastoma cells. 9778036 1998
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.010 Biomarker disease BEFREE Because non-neuronal cells in the central nervous system contained peptidyl alpha-amidating monooxygenase (PAM), to which cytochrome b561 donates its electrons, we used RT-PCR to document the coexpression of cytochrome b561 with PAM and dopamine beta-hydroxylase (DBH) in glioblastoma cells. 9778036 1998