| HPO |
HP:0003206 |
Decreased activity of NADPH oxidase |
— |
— |
HP:0004358 |
| HPO |
HP:0003207 |
Arterial calcification |
"Pathological deposition of calcium salts in one or more arteries." [HPO:probinson, PMID:18519861] |
Most individuals aged over 60 years have progressively enlarging deposits of calcium mineral in their major arteries. This vascular calcification reduces aortic and arterial elastance, which impairs cardiovascular hemodynamics, resulting in substantial morbidity and mortality in the form of hypertension, aortic stenosis, cardiac hypertrophy, myocardial and lower-limb ischemia, congestive heart failure, and compromised structural integrity.The severity and extent of mineralization reflect atherosclerotic plaque burden and strongly and independently predict cardiovascular morbidity and mortality. (From PMID:18519861). |
HP:0004934, HP:0011004 |
| HPO |
HP:0003208 |
Fingerprint intracellular accumulation of autofluorescent lipopigment storage material |
"An intracellular accumulation of autofluorescent lipopigment storage material in a trabecular or fingerprint-like pattern." [HPO:probinson] |
— |
HP:0003204 |
| HPO |
HP:0003209 |
Decreased pyruvate carboxylase activity |
"A decreased rate of pyruvate carboxylase activity." [HPO:probinson] |
Pyruvate carboxylase (EC 6.4.1.1) is a nuclear-encoded mitochondrial enzyme that catalyzes the conversion of pyruvate to oxaloacetate, a precursor for the citric acid cycle. |
HP:0000816 |
| HPO |
HP:0003210 |
Decreased methylmalonyl-CoA mutase activity |
"An abnormality of Krebs cycle metabolism that is characterized by a decreased rate of methylmalonyl-CoA mutase activity." [HPO:probinson] |
The product of the enzyme, succinyl-CoA, is a key molecule of the TCA (Krebs) cycle. The substrate of the enzyme, methylmalonyl-CoA, is primarily derived from propionyl-CoA, a substance formed from the catabolism of isoleucine, valine, threonine, methionine, thymine, uracil, cholesterol, or odd-chain fatty acids. |
HP:0000816 |
| HPO |
HP:0003212 |
Increased circulating IgE level |
"An abnormally increased overall level of immunoglobulin E in blood." [HPO:probinson] |
— |
HP:0010702, HP:0410241 |
| HPO |
HP:0003213 |
Deficient excision of UV-induced pyrimidine dimers in DNA |
— |
— |
HP:0003254 |
| HPO |
HP:0003214 |
Prolonged G2 phase of cell cycle |
— |
— |
HP:0011018 |
| HPO |
HP:0003215 |
Dicarboxylic aciduria |
"An increased concentration of dicarboxylic acid in the urine." [HPO:gcarletti] |
Dicarboxylic aciduria occurs during increased mobilization or inhibited beta-oxidation of fatty acids, where a number of 3-hydroxydicarboxylic acids are excreted in the urine. |
HP:0001992 |
| HPO |
HP:0003216 |
Generalized amyloid deposition |
"A diffuse form of amyloidosis." [HPO:probinson] |
According to MeSH (D000682), Amyloid is fibrous protein complex that consists of proteins folded into a specific cross beta-pleated sheet structure. This fibrillar structure has been found as an alternative folding pattern for a variety of functional proteins. Deposits of amyloid in the form of amyloid plaques are associated with a variety of degenerative diseases. The amyloid structure has also been found in a number of functional proteins that are unrelated to disease. |
HP:0011034 |
| HPO |
HP:0003217 |
Hyperglutaminemia |
"An increased concentration of glutamine in the blood." [HPO:gcarletti, PMID:4696900] |
Normal glutamine blood levels are around 550-600 micromole per liter. |
HP:0010903 |
| HPO |
HP:0003218 |
Oroticaciduria |
"An increased concentration of orotic acid in the urine." [HPO:gcarlotti] |
Orotic acid is an intermediate in the biosynthesis of pyrimidine nucleotides. Some enzymatic deficiencies can cause the excretion of a large amount of orotic acid in the urine and a defect in pyrimidine biosynthesis. |
HP:0031980 |
| HPO |
HP:0003219 |
Ethylmalonic aciduria |
"An increased concentration of ethylmalonic acid in the urine." [HPO:probinson] |
Ethylmalonic acid is a dicarboxylic acid obtained by substitution of one of the methylene hydrogens of malonic acid by an ethyl group. |
HP:0003215 |
| HPO |
HP:0003220 |
Abnormality of chromosome stability |
"A type of chromosomal aberration characterised by reduced resistance of chromosomes to change or deterioration." [HPO:probinson] |
— |
HP:0011017 |
| HPO |
HP:0003221 |
Chromosomal breakage induced by crosslinking agents |
"Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with DNA cross-linking agents such as diepoxybutane and mitomycin C." [HPO:sdoelken] |
Increased tendency to chromosomal breakage induced by crosslinking agents is typical for the various forms of Fanconi anemia. |
HP:0040012 |
| HPO |
HP:0003223 |
Decreased methylcobalamin |
"Decreased concentration of methylcobalamin. Methylcobalamin is a form of vitamin B12." [HPO:probinson] |
— |
HP:0040126 |
| HPO |
HP:0003224 |
Increased cellular sensitivity to UV light |
— |
— |
HP:0011017 |
| HPO |
HP:0003225 |
Reduced coagulation factor V activity |
"Decreased activity of coagulation factor V." [HPO:probinson] |
Factor V is activated to factor Va by means of minute amounts of thrombin (and inactivated by larger amounts of thrombin). Activated factor V (fVa) is a cofactor in the formation of the prothrombinase complex. |
HP:0031899 |
| HPO |
HP:0003226 |
Rectilinear intracellular accumulation of autofluorescent lipopigment storage material |
"An intracellular accumulation of autofluorescent lipopigment storage material in a straight or rectilinear pattern." [HPO:probinson] |
— |
HP:0003204 |
| HPO |
HP:0003228 |
Hypernatremia |
"An abnormally increased sodium concentration in the blood." [HPO:probinson] |
— |
HP:0010931 |
| HPO |
HP:0003231 |
Hypertyrosinemia |
"An increased concentration of tyrosine in the blood." [HPO:probinson] |
Defect in fumarylacetoacetase. |
HP:0010917 |
| HPO |
HP:0003232 |
Mitochondrial malic enzyme reduced |
— |
— |
HP:0003287 |
| HPO |
HP:0003233 |
Decreased HDL cholesterol concentration |
"An decreased concentration of high-density lipoprotein cholesterol in the blood." [HPO:gcarletti] |
— |
HP:0010981, HP:0031888 |
| HPO |
HP:0003234 |
Decreased plasma carnitine |
"A decreased concentration of carnitine in the blood." [HPO:gcarletti] |
Carnitine is responsible for the transport of fatty acids from the cytosol into the mitochondria. |
HP:0003287, HP:0010967 |
| HPO |
HP:0003235 |
Hypermethioninemia |
"An increased concentration of methionine in the blood." [HPO:gcarletti] |
Elevated blood methionine levels in the range of 500-2000 micromolar. |
HP:0010901 |