Browsing Diseases
Displaying diseases 326 - 350 of 660 in total
Hyperekplexia (149400 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| gamma-Aminobutyric acid (HMDB0000112) | Cerebrospinal Fluid (CSF) | 0.011 uM | Abnormal | Newborn (0-30 days old) | Female | details |
Hyperglycinemia, lactic acidosis, and seizures (614462 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Lactic acid (HMDB0000190) | Blood | 4600-57700 uM | Abnormal | Newborn (0-30 days old) | Male | details |
| Glycine (HMDB0000123) | Blood | 906 uM | Abnormal | Newborn (0-30 days old) | Male | details |
Hyperinsulinemic hypoglycemia, familial, 1, HHF1 (256450 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| D-Glucose (HMDB0000122) | Blood | 1940 +/- 570 uM | Abnormal | Children (1-13 years old) | Both | details |
| D-Glucose (HMDB0000122) | Blood | 1900 +/- 700 uM | Abnormal | Children (1-13 years old) | Both | details |
| D-Glucose (HMDB0000122) | Blood | 600-1000 uM | Abnormal | Newborn (0-30 days old) | Both | details |
| alpha-D-Glucose (HMDB0003345) | Blood | 600-1000 uM | Abnormal | Newborn (0-30 days old) | Both | details |
| alpha-D-Glucose (HMDB0003345) | Blood | 1940 +/- 570 uM | Abnormal | Children (1-13 years old) | Both | details |
| alpha-D-Glucose (HMDB0003345) | Blood | 1900 +/- 700 uM | Abnormal | Children (1-13 years old) | Both | details |
Hyperinsulinism-hyperammonemia syndrome (606762 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Oxoglutaric acid (HMDB0000208) | Urine | 100-166 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Oxoglutaric acid (HMDB0000208) | Urine | 149-247 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Female | details |
| Oxoglutaric acid (HMDB0000208) | Urine | 15-107 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Female | details |
Hyperlipoproteinemia (238600 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| D-Glucose (HMDB0000122) | Blood | 5114.0 +/- 483.0 uM | Abnormal | Adult (>18 years old) | Both | details |
| Cholesterol (HMDB0000067) | Blood | <5172.590 uM | Abnormal | Adult (>18 years old) | Both | details |
| Cholesterol (HMDB0000067) | Blood | 2680 +/- 1850 uM | Abnormal | Adult (>18 years old) | Not Available | details |
| alpha-D-Glucose (HMDB0003345) | Blood | 5114.0 +/- 483.0 uM | Abnormal | Adult (>18 years old) | Both | details |
Hyperlysinemia I, familial (238700 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Lysine (HMDB0000182) | Blood | 1208-1472 uM | Abnormal | Children (1-13 years old) | Both | details |
| Pipecolic acid (HMDB0000070) | Cerebrospinal Fluid (CSF) | 24-33 uM | Abnormal | Children (1-13 years old) | Both | details |
| Lysine (HMDB0000182) | Urine | 1384-1742 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both | details |
| Ornithine (HMDB0000214) | Urine | 26-63 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both | details |
| L-Arginine (HMDB0000517) | Urine | 120-221 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both | details |
| Homocitrulline (HMDB0000679) | Urine | 63-83 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both | details |
Hyperlysinuria (247950 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Lysine (HMDB0000182) | Urine | 1413.757 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Female | details |
| Lysine (HMDB0000182) | Urine | 2050-18736 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| L-Cystine (HMDB0000192) | Urine | 908-5585 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Ornithine (HMDB0000214) | Urine | 190-9883 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| L-Arginine (HMDB0000517) | Urine | 54-8426 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
Hypermanganesemia with dystonia 1 (613280 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Manganese (HMDB0001333) | Blood | 3.285 uM | Abnormal | Children (1-13 years old) | Female | details |
| Manganese (HMDB0001333) | Blood | 1.511-14.973 uM | Abnormal | Children (1-13 years old) | Male | details |
| Manganese (HMDB0001333) | Blood | 3.48 uM | Abnormal | Children (1-13 years old) | Male | details |
Hypermanganesemia with dystonia 2 (617013 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Manganese (HMDB0001333) | Blood | 0.963-3.830 uM | Abnormal | Children (1-13 years old) | Both | details |
Hypermethioninemia (613752 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| L-Tyrosine (HMDB0000158) | Blood | 108-146 uM | Abnormal | Children (1-13 years old) | Female | details |
| L-Tyrosine (HMDB0000158) | Blood | 48-95 uM | Abnormal | Children (1-13 years old) | Female | details |
| Methionine (HMDB0000696) | Blood | 20-273 uM | Abnormal | Newborn (0-30 days old) | Both | details |
| Methionine (HMDB0000696) | Blood | 230-1000 uM | Abnormal | Children (1-13 years old) | Female | details |
| Methionine (HMDB0000696) | Blood | 37-400 uM | Abnormal | Children (1-13 years old) | Female | details |
| Betaine (HMDB0000043) | Blood | 211 uM | Abnormal | Children (1-13 years old) | Male | details |
| Creatine (HMDB0000064) | Blood | 528 +/- 42 uM | Abnormal | Children (1-13 years old) | Male | details |
| L-Cystathionine (HMDB0000099) | Blood | 0.552 uM | Abnormal | Children (1-13 years old) | Male | details |
| Methionine (HMDB0000696) | Blood | 477-784 uM | Abnormal | Children (1-13 years old) | Male | details |
Hyperornithinemia with Gyrate Atrophy (258870 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Ornithine (HMDB0000214) | Blood | 1066(798-1321) uM | Abnormal | Adult (>18 years old) | Both | details |
| Ornithine (HMDB0000214) | Cerebrospinal Fluid (CSF) | 288(240-314) uM | Abnormal | Adult (>18 years old) | Both | details |
Hyperornithinemia-hyperammonemia-homocitrullinuria (238970 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Orotic acid (HMDB0000226) | Urine | 59-282 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
Hyperoxalemia
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Ascorbic acid (HMDB0000044) | Blood | 39.0 +/- 92.7 uM | Abnormal | Adult (>18 years old) | Both | details |
| Ascorbic acid (HMDB0000044) | Blood | 6.5 +/- 18.6 uM | Abnormal | Adult (>18 years old) | Both | details |
| Citric acid (HMDB0000094) | Blood | 141.3 +/- 54.7 uM | Abnormal | Adult (>18 years old) | Both | details |
| Citric acid (HMDB0000094) | Blood | 117.6 +/- 37.2 uM | Abnormal | Adult (>18 years old) | Both | details |
| Creatinine (HMDB0000562) | Blood | 40.3 +/- 14.5 uM | Abnormal | Adult (>18 years old) | Both | details |
Hyperphosphatasia (239000 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Calcium (HMDB0000464) | Blood | 2120.864 uM | Abnormal | Children (1-13 years old) | Female | details |
| Phosphate (HMDB0001429) | Blood | 315.885 uM | Abnormal | Children (1-13 years old) | Female | details |
| 25-Hydroxyvitamin D2 (HMDB0001438) | Blood | 24233.741 uM | Abnormal | Children (1-13 years old) | Female | details |
Hyperpipecolatemia
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Pipecolic acid (HMDB0000070) | Cerebrospinal Fluid (CSF) | 1-2 uM | Abnormal | Children (1-13 years old) | Male | details |
| Pipecolic acid (HMDB0000070) | Urine | 4.522 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Male | details |
Hyperprolinemia, type I (239500 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Proline (HMDB0000162) | Blood | 208.459-1745.845 uM | Abnormal | Children (1-13 years old) | Both | details |
Hyperprolinemia, type II (239510 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Proline (HMDB0000162) | Blood | >1500 uM | Abnormal | Children (1-13 years old) | Not Specified | details |
Hypertension (145500 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Angiotensin III (HMDB0001036) | Blood | 0.0000215 +/- 0.0000022 uM | Abnormal | Adult (>18 years old) | Both | details |
| Angiotensin II (HMDB0001035) | Blood | 0.0000574 +/- 0.0000030 uM | Abnormal | Adult (>18 years old) | Both | details |
| m-Tyramine (HMDB0004989) | Blood | 0.00034 +/- 0.0000875 uM | Abnormal | Adult (>18 years old) | Both | details |
| p-Synephrine (HMDB0004826) | Blood | 0.0009 +/- 0.0004 uM | Abnormal | Adult (>18 years old) | Both | details |
| (R)-Salsolinol (HMDB0005199) | Blood | 0.0010 +/- 0.00043 uM | Abnormal | Adult (>18 years old) | Both | details |
| p-Octopamine (HMDB0004825) | Blood | 0.00036 +/- 0.000065 uM | Abnormal | Adult (>18 years old) | Both | details |
| Eicosapentaenoic acid (HMDB0001999) | Blood | 11.0 +/- 7.3 uM | Abnormal | Adult (>18 years old) | Both | details |
| Zinc (HMDB0015532) | Blood | 14.9 +/- 5.0 uM | Abnormal | Adult (>18 years old) | Both | details |
| Docosahexaenoic acid (HMDB0002183) | Blood | 64.7 +/- 39.2 uM | Abnormal | Adult (>18 years old) | Both | details |
| alpha-Linolenic acid (HMDB0001388) | Blood | 21.2 +/- 7.2 uM | Abnormal | Adult (>18 years old) | Both | details |
| Arachidonic acid (HMDB0001043) | Blood | 34.3 +/- 27.8 uM | Abnormal | Adult (>18 years old) | Both | details |
| Linoleic acid (HMDB0000673) | Blood | 175.9 +/- 65.0 uM | Abnormal | Adult (>18 years old) | Both | details |
| 20-Hydroxyeicosatetraenoic acid (HMDB0005998) | Blood | 0.0028 (0.0012-0.0067) uM | Abnormal | Adult (>18 years old) | Both | details |
| Aldosterone 18-glucuronide (HMDB0010345) | Urine | 0.001 (0.00034-0.0022) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Dihydrouracil (HMDB0000076) | Urine | 2.4 +/- 1.67 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Uracil (HMDB0000300) | Urine | 6.00 +/- 4.00 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
Hyperthyroidism
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| 3,5-Diiodo-L-tyrosine (HMDB0003474) | Blood | 0.0036 (0.0010-0.0134) uM | Abnormal | Adult (>18 years old) | Both | details |
| 2-Oxoarginine (HMDB0004225) | Blood | 0.160 +/- 0.009 uM | Abnormal | Adult (>18 years old) | Both | details |
| Thyroxine sulfate (HMDB0002728) | Blood | 0.000033 +/- 0.000010 uM | Abnormal | Adult (>18 years old) | Both | details |
| L-Thyronine (HMDB0000667) | Urine | 0.0069 +/- 0.0014 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| 3,5-Diiodothyronine (HMDB0000582) | Urine | 0.000086 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Liothyronine (HMDB0000265) | Urine | 0.00075 +/- 0.00033 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
Hypervalinemia (277100 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| L-Valine (HMDB0000883) | Blood | 1495-1675 uM | Abnormal | Children (1 - 13 years old) | Both | details |
| L-Valine (HMDB0000883) | Urine | 18.246-18.720 umol/mmol creatinine | Abnormal | Children (1 - 13 years old) | Both | details |
Hyperzincaemia and hypercalprotectinaemia (194470 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Copper (HMDB0000657) | Blood | 25.0842 uM | Abnormal | Children (1 - 13 years old) | Female | details |
| Zinc (HMDB0015532) | Blood | 150.927 uM | Abnormal | Children (1 - 13 years old) | Female | details |
Hypobetalipoproteinemia
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Glucosylceramide (HMDB0000140) | Blood | 0.39 +/- 0.065 uM | Abnormal | Adult (>18 years old) | Both | details |
| LacCer(d18:1/12:0) (HMDB0004866) | Blood | 2.5 (2.7-2.8) uM | Abnormal | Adult (>18 years old) | Both | details |
| Trihexosylceramide (d18:1/12:0) (HMDB0004877) | Blood | 0.9 (1.0-0.9) uM | Abnormal | Adult (>18 years old) | Both | details |
| Trihexosylceramide(d18:1/18:0) (HMDB0004880) | Blood | 0.9 (1.0-0.9) uM | Abnormal | Adult (>18 years old) | Both | details |
| Trihexosylceramide(d18:1/22:0) (HMDB0004882) | Blood | 0.9 (1.0-0.9) uM | Abnormal | Adult (>18 years old) | Both | details |
| Trihexosylceramide (d18:1/24:0) (HMDB0004886) | Blood | 0.9 (0.9-1.0) uM | Abnormal | Adult (>18 years old) | Both | details |
| Trihexosylceramide (d18:1/26:1(17Z)) (HMDB0004884) | Blood | 0.9 (0.9-1.0) uM | Abnormal | Adult (>18 years old) | Both | details |
| Tetrahexosylceramide (d18:1/12:0) (HMDB0004958) | Blood | 1.0 (1.0-1.1) uM | Abnormal | Adult (>18 years old) | Both | details |
| Ganglioside GM3 (d18:1/16:0) (HMDB0004844) | Blood | 4.0 (4.3-4.5) uM | Abnormal | Adult (>18 years old) | Both | details |
Hypoglycemia, familial neonatal (240800 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| D-Glucose (HMDB0000122) | Blood | 1665.224-2775.374 uM | Abnormal | Infant (0-1 year old) | Female | details |
| alpha-D-Glucose (HMDB0003345) | Blood | 1665.224-2775.374 uM | Abnormal | Infant (0-1 year old) | Female | details |
Hypogonadism (146110 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Testosterone (HMDB0000234) | Blood | 0.010 +/- 0.013 uM | Abnormal | Adolescent (13-18 years old) | Male | details |
| Epitestosterone (HMDB0000628) | Blood | 0.00068 +/- 0.00004 uM | Abnormal | Adult (>18 years old) | Male | details |
Hypomagnesemia 1, intestinal (602014 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Calcium (HMDB0000464) | Blood | 2310 uM | Abnormal | Adolescent (13-18 years old) | Male | details |
| Calcium (HMDB0000464) | Blood | 2090 uM | Abnormal | Children (1-13 years old) | Female | details |
| Magnesium (HMDB0000547) | Blood | 490 uM | Abnormal | Adolescent (13-18 years old) | Male | details |
| Magnesium (HMDB0000547) | Blood | 560 uM | Abnormal | Children (1-13 years old) | Female | details |