Pseudohypoaldosteronism, Type Iie |
|
Hyperkalemia, Metabolic acidosis, Hypertension, Pseudohypoaldosteronism, Hyperchloremia, Hyperchl... |
OMIM:614496 |
Pseudohypoaldosteronism, Type Iic |
|
Hyperkalemia, Metabolic acidosis, Hypertension, Decreased serum bicarbonate concentration, Pseudo... |
OMIM:614492 |
Pseudohypoaldosteronism, Type Iib |
|
Hyperkalemia, Hypertension, Pseudohypoaldosteronism, Hyperchloremia, Hyperchloremic metabolic aci... |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hyperkalemia, Hypertension, Pseudohypoaldosteronism, Hyperchloremia, Hyperchloremic metabolic aci... |
OMIM:614495 |
Pseudohypoaldosteronism, Type Iia |
|
Hyperchloremic acidosis, Hypertension, Pseudohypoaldosteronism, Hyperkalemia |
OMIM:145260 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Metabolic acidosis, Hyperactive renin-angiotensin system, Hyperaldost... |
OMIM:264350 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Metabolic acidosis, Hyperactive renin-angiotensin system, Hyperaldost... |
OMIM:177735 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Metabolic acidosis, Hyperaldosteronism, Increased circulating renin l... |
OMIM:620125 |
Hyperaldosteronism, Familial, Type Ii |
|
Hypertension, Hypokalemia, Hyperaldosteronism |
OMIM:605635 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Elevated circulating creatine kinase concentration, Mixed respiratory and metabolic ... |
OMIM:145600 |
Familial Hyperaldosteronism Type Ii |
|
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Metabolic ... |
ORPHA:404 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Diabetes mellitus, Myocardial infarction, Obesity, Hypertension, Hypercholesterolemia, Premature ... |
OMIM:608320 |
Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, I... |
ORPHA:556037 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Orthostatic hypotension, Increased circulating corticosterone level, Decreased circ... |
OMIM:610600 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Elevated left ventricular end-diastolic diameter, Dilated cardiomyopathy, Metabolic... |
OMIM:620152 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Failure to thrive in infancy, Glucocortocoid-insensitive primary hyperaldosteronism... |
ORPHA:171876 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Metabolic acidosis, Hyperaldosteronism, Increased circulating renin l... |
OMIM:620126 |
Blue Diaper Syndrome |
|
Hypercalcemia, Elevated circulating thyroid-stimulating hormone concentration, Increased body wei... |
ORPHA:94086 |
Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, I... |
ORPHA:556030 |
Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Metabolic acidosis, Hypertension, Hypokalemia, Hyperaldosteronism, Decreased... |
OMIM:613677 |
Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hypovolemia, Hyperkalemia, Proximal renal tubular acidosis... |
ORPHA:427 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Metabolic alkalosis, Elevated serum bicarbonate concentration, Alkalosis, Hypochlor... |
OMIM:214700 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Hypotension, Failure to thrive, De... |
OMIM:203400 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Lactic acidosis, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperal... |
ORPHA:251274 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Metabolic alkalosis, Neoplasm o... |
ORPHA:231625 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Lactic acidosis, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Decreased circulating parathyroid hormone level, Hyperphosphatemia, Hypocalcemia, Hypocalcemic se... |
OMIM:618883 |
Apparent Mineralocorticoid Excess |
|
Small for gestational age, Metabolic alkalosis, Hypertension, Hypokalemia, Failure to thrive, Dec... |
OMIM:218030 |
Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Failure to thrive, Hyperkalemia |
OMIM:143860 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Adrenal hyperplasia, Epistaxis, Metabolic alkalosis, Abnormal circulating renin, Intracranial hem... |
ORPHA:369929 |
Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension... |
ORPHA:403 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypocalcemia, Pseudohypoparath... |
OMIM:203330 |
Ectopic Aldosterone-Producing Tumor |
|
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Metabolic alkalosis, Hypertensi... |
ORPHA:231632 |
Hyperaldosteronism, Familial, Type I |
|
Adrenal hyperplasia, Adrenogenital syndrome, Hypertension, Hyperaldosteronism, Decreased circulat... |
OMIM:103900 |
Pseudohypoaldosteronism Type 2 |
|
Hypertension, Hyperkalemia |
ORPHA:757 |
Dystonia 30 |
|
Diffuse cerebral atrophy, Torticollis, Dystonia, Writer's cramp, Impulsivity, Aggressive behavior... |
OMIM:619291 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Adrenocorti... |
ORPHA:199296 |
Pseudohypoparathyroidism, Type Ib |
|
Obesity, Pseudohypoparathyroidism, Hyperphosphatemia, Elevated circulating parathyroid hormone le... |
OMIM:603233 |
Primary Unilateral Adrenal Hyperplasia |
|
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Metabolic ... |
ORPHA:231580 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Precocious puberty, Hyperkalemia, Increased c... |
OMIM:614736 |
Gitelman Syndrome |
|
Maternal diabetes, Hyperhidrosis, Renal Fanconi syndrome, Hypocalcemia, Prominent U wave, Abnorma... |
ORPHA:358 |
Nephronophthisis 2 |
|
Elevated circulating creatinine concentration, Hyperkalemia, Hypertension, Hyperkalemic metabolic... |
OMIM:602088 |
Hypokalemic Tubulopathy And Deafness |
|
Acidosis, Hyperaldosteronism, Increased circulating renin level |
OMIM:619406 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction, Congestive ... |
OMIM:615703 |
Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia, Ventricular arrhythmia |
OMIM:141000 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Sudden cardiac death, Myocardial infarction, Increased LDL cholesterol conc... |
OMIM:610947 |
Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Prolonged QT interval, Pseudohypoparathyroidism, Hyperphosphatemia, Elevated circulat... |
ORPHA:94090 |
Autoimmune Hypoparathyroidism |
|
Prolonged QT interval, Ventricular arrhythmia, Autoimmune hypoparathyroidism, Abnormal left ventr... |
ORPHA:36913 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Parathyroid agenesis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Congenital hypoparathyroid... |
ORPHA:2239 |
Colchicine Poisoning |
|
Hyponatremia, Abnormality of acid-base homeostasis, Congestive heart failure, Myocarditis, Hypovo... |
ORPHA:31824 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Orthostatic hypotension, Decreased circulating cortisol level, Hypercalcemia, Myoca... |
ORPHA:95409 |
Hypocalcemia, Autosomal Dominant 1 |
|
Decreased circulating parathyroid hormone level, Hypokalemia, Hyperphosphatemia, Increased circul... |
OMIM:601198 |
Liddle Syndrome 2 |
|
Metabolic alkalosis, Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decrease... |
OMIM:618114 |
Liddle Syndrome 3 |
|
Metabolic alkalosis, Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decrease... |
OMIM:618126 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Metabolic alkalosis, Hypertension, Hypokalemia, Second degree atrioventricular block, Primary hyp... |
OMIM:615474 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hypoparathyroidism, Decreased circulating parathyroid hormone level, Hyperphosphatemia, Hypocalce... |
OMIM:146200 |
Leptin Receptor Deficiency |
|
Decreased response to growth hormone stimulation test, Abnormal eating behavior, Aggressive behav... |
OMIM:614963 |
Stxbp1-Related Encephalopathy |
|
Cerebral white matter atrophy, Hyperactivity, Ataxia, EEG with abnormally slow frequencies, Tremo... |
ORPHA:599373 |
Hyperaldosteronism, Familial, Type Iv |
|
Hypertension, Hyperaldosteronism |
OMIM:617027 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Increased serum lactate, Metabolic acidosis, Low-output congestive heart failure, Lactic acidosis... |
ORPHA:91130 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Conjugated hyperbilirubinemia, Increased serum lactate, Hyperkalemia, Metabolic acidosis, Hypoalb... |
OMIM:618528 |
Familial Cervical Artery Dissection |
|
Carotid artery dissection, Transient ischemic attack, Diabetes mellitus, Subarachnoid hemorrhage,... |
ORPHA:36382 |
Liddle Syndrome 1 |
|
Hypokalemic alkalosis, Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decrea... |
OMIM:177200 |
Hypoadrenocorticism, Familial |
|
Hyponatremia, Hyperkalemia, Adrenal hypoplasia, Adrenal insufficiency |
OMIM:240200 |
Familial Glucocorticoid Deficiency |
|
Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Decreased circulating c... |
ORPHA:361 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Diabetes mellitus, Increased serum lactate, Hypomagnesemia, Hypochloremic metabolic... |
OMIM:613845 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypokalemic hypochloremic metabolic alkalosis, Hypochloremia, Hyp... |
OMIM:613090 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Hypokalemic metabolic alkalosis, Elevated serum bicarbonate concentration, Hypertension, Hypokale... |
OMIM:612780 |
Pseudopseudohypoparathyroidism |
|
Abnormality of the endocrine system, Obesity, Hyperphosphatemia, Elevated circulating parathyroid... |
ORPHA:79445 |
East Syndrome |
|
Metabolic alkalosis, Hypokalemia, Hyperaldosteronism, Increased circulating renin level, Hypomagn... |
ORPHA:199343 |
Malignant Hyperthermia Of Anesthesia |
|
High-output congestive heart failure, Hyperkalemia, Ventricular tachycardia, Premature ventricula... |
ORPHA:423 |
Renal Hypoplasia, Bilateral |
|
Hyponatremia, Small for gestational age, Hyperkalemia, Metabolic acidosis, Hypertension, Failure ... |
ORPHA:97362 |
Hereditary Fructose Intolerance |
|
Episodic hyperhidrosis, Hypermagnesemia, Metabolic acidosis, Hyperuricemia, Hypophosphatemia |
ORPHA:469 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Increased circulating androstenedione concent... |
ORPHA:90791 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Tachycardia, Elevated circulating creatine kinase concentration, Pulmonary embolism... |
ORPHA:94093 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Hypoparathyroidism, Orthostatic hypotension, Decreased circulating cortisol level, ... |
ORPHA:199299 |
Bartter Syndrome Type 4 |
|
Hyponatremia, Hypokalemic metabolic alkalosis, Small for gestational age, Hypochloremia, Hyperten... |
ORPHA:89938 |
Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Hypokalemic metabolic alkalosis, Hypokalemia, Hyperactive renin-angiotensin sys... |
OMIM:607364 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Increased serum lactate, Congestive heart failure, Lactic acidosis, Metabolic acidosis, Reduced l... |
OMIM:614096 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hyperparathyroidism, Hypercalcemia, Hypermagnesemia, Parathyroid adenoma, Pancreatitis |
OMIM:145980 |
Pseudohypoparathyroidism, Type Ic |
|
Elevated circulating thyroid-stimulating hormone concentration, Pseudohypoparathyroidism, Obesity... |
OMIM:612462 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Hyperamylasemia, Bicarbonate-wasting renal tubular acidosis, Proximal renal tubular acidosis, Met... |
OMIM:604278 |
Addison Disease |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Increased circul... |
ORPHA:85138 |
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Hyperactivity, Microcephaly, Cerebral atrophy, Abnormal cerebral white matter morphology, Irritab... |
OMIM:616657 |
Combined Oxidative Phosphorylation Deficiency 23 |
|
Increased serum lactate, Congestive heart failure, Dilated cardiomyopathy, Lactic acidosis, Arrhy... |
OMIM:616198 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1 |
|
Class III obesity, Hypomagnesemia |
OMIM:616418 |
Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Cerebellar hypoplasia, Hypop... |
OMIM:604213 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Pancreatitis, Primary hyperparathyroidism, Hypermagnesemia, Hypercalcemia |
OMIM:145981 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hyperkalemia |
OMIM:609153 |
Abdominal Obesity-Metabolic Syndrome 1 |
|
Hypertension, Abdominal obesity |
OMIM:605552 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Hypertension, Abdominal obesity |
OMIM:605572 |
Uremic Pruritus |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
Thyrotoxic Periodic Paralysis |
|
Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyroto... |
ORPHA:79102 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Hyperinsulinemia, Obesity, Hypertension, Type II diabetes mellitus, Childho... |
ORPHA:71529 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Hyperparathyroidism, Hypokalemic metabolic alkalosis, Increased serum prostagla... |
OMIM:601678 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Increased serum lactate, Congestive heart failure, Decreased plasma free carnitine, Metabolic aci... |
OMIM:619048 |
Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Congestive heart failure, Hyper... |
ORPHA:682 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Cerebellar atrophy, Ataxia, Microcephaly, Hypoplasia of the pons, Dysplastic corpus callosum, Dys... |
OMIM:618276 |
Hawkinsinuria |
|
Metabolic acidosis, Abnormal circulating tyrosine concentration, Failure to thrive, Hypothyroidism |
ORPHA:2118 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Adrenal calcification, Bone-marrow foam cells, Precocious ath... |
ORPHA:275761 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Elevated lactate:pyruvate ratio, Hyperprolinemia, Metabolic acidosis, Pulmonary arterial hyperten... |
OMIM:619003 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypercalcemia, Primary hyperparathyroidism, Hypermagnesemia, Hypophosphatemia, Pancreatitis |
OMIM:600740 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2 |
|
Dilation of Virchow-Robin spaces, Transient ischemic attack, Lacunar stroke, Hypertension, Stroke |
OMIM:616779 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Elevated lactate:pyruvate ratio, Increased serum lactate, Ketoacidosis, Metabolic acidosis, Eleva... |
OMIM:614582 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Wolff-Parkinson-White syndrome, Increased serum lactate, Congestive heart failure, Lactic acidosi... |
OMIM:618234 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ... |
OMIM:613239 |
Calciphylaxis |
|
Hyperphosphatemia, Arterial calcification, Secondary hyperparathyroidism |
ORPHA:280062 |
Helix Syndrome |
|
Anhidrosis, Hyperparathyroidism, Hypermagnesemia, Xerostomia, Hypohidrosis, Hypokalemia |
OMIM:617671 |
Hsd10 Disease, Neonatal Type |
|
Metabolic acidosis, Lactic acidosis, Hypertrophic cardiomyopathy |
ORPHA:391457 |
Hyperkalemic Periodic Paralysis |
|
Hyperkalemia |
OMIM:170500 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, El... |
ORPHA:289548 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Mild malformation of cortical development, Dysplastic corpus callosum, Compulsive behaviors, Abno... |
ORPHA:500166 |
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome |
|
Metabolic acidosis, Hyperalaninemia |
ORPHA:2597 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hypokalemic metabolic alkalosis, Sudden cardiac death, Congestive heart failure, Dilated cardiomy... |
ORPHA:73224 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Increased serum pyruvate, Small for gestational age, Increased serum lactate, Hyperammonemia, Met... |
OMIM:615160 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Elevated circulating lute... |
ORPHA:168558 |
Liddle Syndrome |
|
Hypertension, Hypokalemia, Cerebral ischemia, Arrhythmia |
ORPHA:526 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Congestive heart failure, Hyperka... |
ORPHA:31826 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Accelerated atherosclerosis, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Eleva... |
OMIM:618620 |
Isolated Glycerol Kinase Deficiency |
|
Adrenocortical hypoplasia, Metabolic acidosis, Elevated circulating creatine kinase concentration |
ORPHA:408 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Elevated circulating creatine kinase concentration, Hyperamylasemia, Increased serum lactate, Met... |
OMIM:619386 |
Apparent Mineralocorticoid Excess |
|
Hypokalemic metabolic alkalosis, Hypertension, Hypokalemia, Stroke, Abnormality of circulating co... |
ORPHA:320 |
Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Cardiomyopathy, Failure to thrive, Metabolic ac... |
ORPHA:26792 |
Familial Pseudohyperkalemia |
|
Hypertension, Hyperkalemia |
ORPHA:90044 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Small for gestational age, Increased serum lactate, Hyperammonemia, Lactic acidosis, Metabolic ac... |
OMIM:614702 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... |
ORPHA:189427 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Metabolic acidosis, Congestive heart failure |
OMIM:301021 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Increased serum pyruvate, Ketoacidosis, Lactic acidosis, Metabolic acidosis, Hypertrophic cardiom... |
OMIM:246900 |
Methanol Poisoning |
|
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Hyperlipidemia, Permanent ... |
ORPHA:31825 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Overfriendliness, Dysplastic corpus callosum, Aggressive behavior, Primary microcephaly |
OMIM:618010 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Elevated creatine kinase after exercise, Hyperkalemia, Arrhythmia |
ORPHA:57 |
Genetic Recurrent Myoglobinuria |
|
Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia, Arrhythmia |
ORPHA:99845 |
Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemic rickets, Hypertension, Hyperchloremic metabolic acidosis, Hypophosphatemia |
OMIM:618913 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Hyperkalemic metabolic acidosis, Premature adrenarche, Hypo... |
ORPHA:90794 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Increased serum pyruvate, Increased serum lactate, Hyperprolinemia, Lactic acidosis, Cardiomyopat... |
OMIM:619046 |
Pseudohypoparathyroidism, Type Ia |
|
Pseudohypoparathyroidism, Obesity, Hyperphosphatemia, Elevated circulating parathyroid hormone le... |
OMIM:103580 |
Combined Oxidative Phosphorylation Deficiency 38 |
|
Wolff-Parkinson-White syndrome, Increased serum lactate, Lactic acidosis, Hyperalaninemia, Hypert... |
OMIM:618378 |
Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability, Agenesis of corpus c... |
OMIM:605899 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:268200 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Increased serum pyruvate, Congestive heart failure, Increased serum lactate, Severe lactic acidosis |
OMIM:616794 |
Birk-Landau-Perez Syndrome |
|
Hypertension, Hyperkalemia, Failure to thrive in infancy, Increased circulating creatine kinase M... |
OMIM:617595 |
Mirage Syndrome |
|
Hyponatremia, Hypergonadotropic hypogonadism, Adrenal hypoplasia, Patent ductus arteriosus, Hyper... |
OMIM:617053 |
Isovaleric Acidemia |
|
Metabolic acidosis |
ORPHA:33 |
Pyruvate Dehydrogenase Phosphatase Deficiency |
|
Increased serum lactate, Hyperalaninemia, Lactic acidosis, Hyperprolinemia |
ORPHA:79246 |
Hypomagnesemia 4, Renal |
|
Hypomagnesemia |
OMIM:611718 |
Acute Peripheral Arterial Occlusion |
|
Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Stroke, Supraventricula... |
ORPHA:90064 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Obesity, Cerebellar hypoplasia, Limb dystonia... |
OMIM:620270 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Depression, Irritability, Tics, At... |
ORPHA:66624 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hypergonadotropic hypogonadism, Increased serum lactate, Elevated circulating thyroid-stimulating... |
OMIM:617872 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Increased serum lactate, Hypertrophic cardiomyopathy, Failure to thrive, Metabolic acidosis |
OMIM:618237 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Tachycardia, Hyperthyroidism, Weight loss, Hypokalemia, Palpitations, Goiter |
OMIM:188580 |
Combined Oxidative Phosphorylation Deficiency 17 |
|
Lactic acidosis, Congestive heart failure, Hypertrophic cardiomyopathy, Failure to thrive |
OMIM:615440 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Diabetes mellitus, Congestive heart failure, Stroke-like episode,... |
OMIM:540000 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Metabolic acidosis, Distal renal tubular acidosis, Hypokalemia, Failure to thrive |
OMIM:602722 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Abnormal substantia nigra morphology, Ataxia, Overweight, Hyperintensity of cerebral white matter... |
ORPHA:2822 |
Preeclampsia |
|
Increased body mass index, Small for gestational age, Elevated circulating creatinine concentrati... |
ORPHA:275555 |
Sulfide:Quinone Oxidoreductase Deficiency |
|
Lactic acidosis, Elevated circulating creatine kinase concentration |
OMIM:619221 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Overriding aorta, Small for gestational age, Increased serum lactate, Patent ductus arteriosus, L... |
OMIM:617021 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Decreased circulating cortisol level, Decreased serum insulin-like growth factor 1,... |
ORPHA:293978 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Hypokalemic metabolic alkalosis, Increased serum prostaglandin E2, Small for ge... |
OMIM:241200 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Xerostomia, Hematochezia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:175500 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Increased serum lactate, Failure to thrive, Metabolic acidosis |
OMIM:610090 |
Corticosteroid-Binding Globulin Deficiency |
|
Hypertension, Hypokalemia, Decreased circulating cortisol level, Hypotension |
OMIM:611489 |
3-Hydroxyisobutyric Aciduria |
|
Ketoacidosis, Lactic acidosis, Failure to thrive, Episodic ketoacidosis |
OMIM:236795 |
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Hypokalemic alkalosis, Increased serum prostaglandin E2, Hypokalemia, Increased circulating renin... |
OMIM:241150 |
Osteopetrosis, Autosomal Recessive 9 |
|
Elevated circulating creatinine concentration, Hyperparathyroidism, Hyperkalemia |
OMIM:620366 |
Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Prolonged QT interval, Decreased response to growth hormone stimulation test, Pseudoh... |
ORPHA:94089 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Aggressive behavior, Microcephaly, Abnormal fear-induced behavior, Cortical dysplasia, Pseudobulb... |
ORPHA:208441 |
Intracranial Hypertension, Idiopathic |
|
Hypertension |
OMIM:243200 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Hypertension, Acidosis |
OMIM:137950 |
Gitelman Syndrome |
|
Prolonged QT interval, Hypokalemic alkalosis, Ventricular tachycardia, Hypokalemia, Increased cir... |
OMIM:263800 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Myocardial infarction, Coronary artery calcification, Congestive heart f... |
OMIM:614473 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Increased serum lactate, Lactic acidosis, Hyperalaninemia, Hypertrophic cardiomyopathy, Failure t... |
OMIM:617228 |
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Episodic hypokalemia, Hypomagnesemia |
ORPHA:564178 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hypertension, Cardiomyopathy, Abnormal aortic morphology, Hyperuricemia, Arrhythmia |
ORPHA:3222 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Parathyroid hyperplasia, Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hyper... |
OMIM:617994 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Increased serum pyruvate, Small for gestational age, Increased serum lactate, Chronic lactic acid... |
OMIM:312170 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypokalemic hypochloremic metabolic alkalosis, Hypochloremia, Hyp... |
OMIM:602522 |
Mitochondrial Myopathy, Infantile, Transient |
|
Increased serum pyruvate, Elevated circulating creatine kinase concentration, Increased serum lac... |
OMIM:500009 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Hypertension, Diabetic... |
OMIM:615238 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:300971 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Increased serum lactate, Lactic acidosis, Metabolic acidosis, Severe lactic acidosis, Hypertrophi... |
OMIM:618228 |
Autosomal Dominant Hypocalcemia |
|
Congestive heart failure, Hyperphosphatemia, Hypocalcemia, Hypotension, Hypomagnesemia, Arrhythmia |
ORPHA:428 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Resting tremor, Hyperactivity, Focal EEG discharges with secondary generalization, Anorexia, Aggr... |
ORPHA:3077 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ... |
OMIM:241410 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Decreased circulating cortisol level, Adrenal hyperplasia, Hyperkalemia, Increased ... |
ORPHA:90790 |
Maternally-Inherited Diabetes And Deafness |
|
Congestive heart failure, Hypertension, Type II diabetes mellitus, Arrhythmia, Hypertrophic cardi... |
ORPHA:225 |
Microcephaly, Seizures, And Developmental Delay |
|
Cerebellar atrophy, Hyperactivity, Ataxia, Microcephaly, Simplified gyral pattern, Hypoplasia of ... |
OMIM:613402 |
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities |
|
Ataxia, Reduced cerebral white matter volume, Dysplastic corpus callosum, Leukoencephalopathy, Se... |
OMIM:620317 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Failure to thrive, Cardiac arrest, Metabolic acidosis, Bradycardia, Hypertrophic cardiomyopathy, ... |
OMIM:618235 |
Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, Anhidrosis, Elevated circulating creatine kinase concentration, Hyperkalem... |
ORPHA:466650 |
2P21 Microdeletion Syndrome |
|
Lactic acidosis, Failure to thrive, Hypogonadism, Hypocalcemia |
ORPHA:163693 |
Hypomagnesemia 6, Renal |
|
Hypomagnesemia |
OMIM:613882 |
Gracile Syndrome |
|
Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron, Chr... |
OMIM:603358 |
Basal Ganglia Calcification, Idiopathic, 5 |
|
Cerebral calcification, Postural tremor, Cerebellar calcifications, Basal ganglia calcification, ... |
OMIM:615483 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Elevated circulating thyroid-stimulating hormone concentratio... |
OMIM:618183 |
Pheochromocytoma/Paraganglioma Syndrome 6 |
|
Elevated circulating catecholamine level, Hypertension, Paraganglioma |
OMIM:618464 |
Combined Oxidative Phosphorylation Deficiency 20 |
|
Lactic acidosis, Hyperalaninemia, Hypertrophic cardiomyopathy, Small for gestational age |
OMIM:615917 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Metabolic acidosis, Hypokalemia, Distal renal tubular acidosis, Failure to thrive, Hyperchloremic... |
OMIM:611590 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Abnormal cardiac ventricular function, Elevated circulating branched chain amino acid concentrati... |
ORPHA:2394 |
Juvenile Huntington Disease |
|
Cerebellar atrophy, Hyperactivity, Neuronal loss in basal ganglia, Ataxia, Chorea, Weight loss, D... |
ORPHA:248111 |
Renal Failure, Progressive, With Hypertension |
|
Hypertension, Elevated circulating creatinine concentration |
OMIM:161900 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Metabolic acidosis, Lact... |
OMIM:616501 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Reduced systolic function, Failure to thrive in infancy, Dilated cardiomyopathy, Lactic acidosis,... |
OMIM:618805 |
Hsd10 Mitochondrial Disease |
|
Lactic acidosis, Hypertrophic cardiomyopathy, Elevated circulating tiglylglycine concentration, M... |
OMIM:300438 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Elevated lactate:pyruvate ratio, Increased serum lactate, Lactic acidosis, Hyperalaninemia, Failu... |
OMIM:616974 |
Mitochondrial Complex I Deficiency, Nuclear Type 22 |
|
Elevated lactate:pyruvate ratio, Lactic acidosis, Hypertrophic cardiomyopathy |
OMIM:618243 |
Vitamin D-Dependent Rickets, Type 3 |
|
Elevated circulating parathyroid hormone level, Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Impulsivity, Cryptorchidism, Interhypothalamic adhesion, Self-injurious behavior, Attention defic... |
OMIM:618929 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Increased serum lactate, Metabolic acidosis |
OMIM:615158 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Tricuspid regurgitation, Increased serum lactate, Hyperammonemia, Lactic acidosis, Pulmonary arte... |
OMIM:619051 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Torsade de pointes, Abnormal T-wav... |
ORPHA:101016 |
Combined Oxidative Phosphorylation Deficiency 43 |
|
Increased serum lactate, Small for gestational age, Elevated circulating creatine kinase concentr... |
OMIM:618851 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3 |
|
Lactic acidosis, Hypertrophic cardiomyopathy |
OMIM:614053 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Increased serum lactate, Hypertrophic cardiomyopathy |
OMIM:615395 |
Pyridoxal Phosphate-Responsive Seizures |
|
Abnormal circulating glycine concentration, Abnormal circulating tyrosine concentration, Abnormal... |
ORPHA:79096 |
Lipodystrophy, Familial Partial, Type 1 |
|
Prominent superficial veins, Hypertriglyceridemia, Acute pancreatitis, Insulin-resistant diabetes... |
OMIM:608600 |
Hemorrhagic Fever-Renal Syndrome |
|
Shock, Tachycardia, Epistaxis, Hematemesis, Hyperkalemia, Elevated circulating creatinine concent... |
ORPHA:340 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Prolonged QT interval, Hypergonadotropic hypogonadism, Decreased response to growth h... |
ORPHA:79444 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Myocardial infarction, Increased LDL cholesterol concentration, Hypertensio... |
OMIM:615812 |
Orthostatic Hypotension 1 |
|
Orthostatic hypotension, Atrial fibrillation, Reduced circulating prolactin concentration, Increa... |
OMIM:223360 |
Acetyl-Coa Acetyltransferase-2 Deficiency |
|
Increased serum pyruvate, Increased serum lactate |
OMIM:614055 |
Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Pancreatitis, Hypocalcemic seizures |
ORPHA:405 |
Andersen-Tawil Syndrome |
|
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... |
ORPHA:37553 |
Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Increased serum pyruvate, Increased serum lactate, Congestive heart failure, Dilated cardiomyopat... |
ORPHA:1349 |
Mitochondrial Myopathy With Lactic Acidosis |
|
Increased serum pyruvate, Lactic acidosis, Elevated serum anion gap, Increased serum lactate |
OMIM:251950 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hypertension |
OMIM:166990 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Increased serum lactate, Congestive heart failure, Stroke-like episode, Lactic acidosis, Metaboli... |
ORPHA:70472 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Hypothyroidism, Hypomagnesemia |
OMIM:619908 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Myocardial infarction, Coronary artery calcification, Congestive heart failure, Carotid artery ca... |
OMIM:208000 |
Duplication Of The Pituitary Gland |
|
Encephalocele, Microcephaly, Abnormal pituitary gland morphology, Abnormal hypothalamus morpholog... |
ORPHA:314621 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Elevated circulating creatine kinase concentration, Ketoacidosis, Dilated cardiomyopathy, Hyperam... |
OMIM:618120 |
Mitochondrial Complex I Deficiency, Nuclear Type 7 |
|
Lactic acidosis, Hypertrophic cardiomyopathy, Failure to thrive |
OMIM:618229 |
Polycystic Kidney Disease 7 |
|
Hypertension |
OMIM:620056 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Tricuspid regurgitation, Increased circulating NT-proBNP concentration, Elevated circulating crea... |
OMIM:620300 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Prolonged QT interval, Hypergonadotropic hypogonadism, Decreased response to growth h... |
ORPHA:79443 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Increased serum lactate, Metabolic acidosis, Pancreatitis, Hyperammonemia |
OMIM:620137 |
Takayasu Arteritis |
|
Myocardial infarction, Vascular dilatation, Vasculitis, Arterial stenosis, Hyperhidrosis, Weight ... |
ORPHA:3287 |
Preeclampsia/Eclampsia 1 |
|
Hypertension |
OMIM:189800 |
Hypercalcemia, Infantile, 2 |
|
Failure to thrive, Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
Riboflavin Deficiency |
|
Elevated circulating acylcarnitine concentration, Lactic acidosis, Metabolic acidosis |
OMIM:615026 |
Glucocorticoid Resistance, Generalized |
|
Metabolic alkalosis, Increased circulating ACTH level, Hypertension, Increased circulating cortis... |
OMIM:615962 |
Malignant Hyperthermia, Susceptibility To, 4 |
|
Acidosis |
OMIM:600467 |
Lipoyltransferase 1 Deficiency |
|
Increased serum lactate, Hyperglutaminemia, Hyperprolinemia, Lactic acidosis, Bradycardia, Pulmon... |
OMIM:616299 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Lactic acidosis, Failure to thrive, Abnormal circulating pyruvate family amino acid concentration... |
ORPHA:255182 |
Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal cerebral vascular morphology, Raynaud phenomenon, Hypertension, Stroke, Moyamoya phenomenon |
ORPHA:401945 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Metabolic acidosis, Bradycardia, Hyp... |
OMIM:617222 |
Necrotizing Enterocolitis |
|
Hyponatremia, Shock, Small for gestational age, Increased serum lactate, Metabolic acidosis, Brad... |
ORPHA:391673 |
Refractory Celiac Disease |
|
Hypomagnesemia, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia |
ORPHA:398063 |
Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Hypertension |
ORPHA:2820 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Metabolic alkalosis, I... |
ORPHA:786 |
Spastic Paraplegia 45, Autosomal Recessive |
|
Dysplastic corpus callosum, Hypoplasia of the corpus callosum |
OMIM:613162 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hypokalemia, Hypomagnesemia |
OMIM:618314 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Hyperphosphatemia, Vascular calcification |
OMIM:211900 |
Non-Functioning Paraganglioma |
|
Paraganglioma of head and neck, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Epi... |
ORPHA:94080 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperinsulinemia, Abnormal circulating hormone concentration, Hypertension,... |
ORPHA:280356 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertension, Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Stroke |
OMIM:613877 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Hyperactivity, Microcephaly, Cerebral atrophy, Failure to thrive, Agenesis of corpus callosum |
OMIM:274270 |
Kenny-Caffey Syndrome, Type 2 |
|
Hypoparathyroidism, Transient hypophosphatemia, Small for gestational age, Hyperphosphatemia, Hyp... |
OMIM:127000 |
Thymic Neuroendocrine Tumor |
|
Hypercalcemia, Pituitary null cell adenoma, Pancreatic islet cell adenoma, Neoplasm of the thymus... |
ORPHA:97289 |
Galactosemia I |
|
Hypergonadotropic hypogonadism, Increased level of galactitol in plasma, Metabolic acidosis, Hype... |
OMIM:230400 |
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome |
|
Lactic acidosis, Decreased circulating ferritin concentration |
ORPHA:330054 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Increased serum pyruvate, Hyperalaninemia, Lactic acidosis, Metabolic acidosis |
OMIM:245349 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Hyperhidrosis, Episodi... |
OMIM:171420 |
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Hyperaldosteronism, Adrenal insufficiency, Adrenocorticotropic hormone excess |
OMIM:613743 |
Pearson Syndrome |
|
Hypoparathyroidism, Elevated lactate:pyruvate ratio, Diabetes mellitus, Small for gestational age... |
ORPHA:699 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Elevated circulating creatine kinase concentration, Increased serum lactate, Hypomagnesemia, Rena... |
OMIM:619743 |
Sanjad-Sakati Syndrome |
|
Congenital hypoparathyroidism, Hypoparathyroidism, Hyperphosphatemia, Hypocalcemia |
ORPHA:2323 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 9 |
|
Elevated lactate:pyruvate ratio, Lactic acidosis, Increased serum lactate, Severe lactic acidosis |
OMIM:616111 |
Tako-Tsubo Cardiomyopathy |
|
Abnormal coronary artery morphology, Prolonged QTc interval, Mildly elevated creatine kinase, Mil... |
ORPHA:66529 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Schizencephaly, Failure to thrive, Hyperactivity, Impulsivity, Microcephaly, Aggressive behavior,... |
OMIM:604317 |
Cholera |
|
Hyponatremia, Tachycardia, Abnormal blood ion concentration, Lactic acidosis, Hypovolemic shock, ... |
ORPHA:173 |
Lipodystrophy, Familial Partial, Type 6 |
|
Diabetes mellitus, Elevated circulating creatine kinase concentration, Hyperlipidemia, Hypertensi... |
OMIM:615980 |
Dihydropyrimidinase Deficiency |
|
Elevated circulating uracil concentration, Metabolic acidosis, Elevated circulating thymine conce... |
OMIM:222748 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hyperlipidemia, Postprandial hyperlactemia, Delayed puberty, Hypertrophic cardiomyopathy, Failure... |
ORPHA:369 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Lactic acidosis, Hyperammonemia |
OMIM:614111 |
Primary Membranoproliferative Glomerulonephritis |
|
Hypertension, Hypoalbuminemia, Myocardial infarction |
ORPHA:54370 |
Combined Oxidative Phosphorylation Deficiency 5 |
|
Increased serum lactate, Hyperammonemia, Lactic acidosis, Metabolic acidosis, Hypertrophic cardio... |
OMIM:611719 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Diabetes mellitus, Hyperinsulinemia, Hypertension, Coronary artery atherosclerosis, Pancreatitis |
ORPHA:79084 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Small for gestational age, Elevated circulating thyroid-stimulating hormone concentration, Congen... |
OMIM:101800 |
Rhabdoid Tumor |
|
Hypertension, Internal hemorrhage, Hypercalcemia, Weight loss |
ORPHA:69077 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyponatremia, Adrenal hyperplasia, Increased circulating dehydroepiandrosterone-sulfate concentra... |
OMIM:201810 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Tachycardia, Small for gestational age, Elevated circulating creatine kina... |
ORPHA:26793 |
Hypomagnesemia 2, Renal |
|
Hypokalemia, Hypomagnesemia |
OMIM:154020 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Male hypogonadism, Decreased circulating renin level, Eleva... |
ORPHA:90793 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Failure to thrive, Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia |
OMIM:239000 |
Fibronectin Glomerulopathy |
|
Hypertension, Hypoalbuminemia, Cerebral hemorrhage |
ORPHA:84090 |
Cystinosis |
|
Portal hypertension, Nephrogenic diabetes insipidus, Hypokalemia, Hypophosphatemia, Type I diabet... |
ORPHA:213 |
Oxoglutarate Dehydrogenase Deficiency |
|
Increased serum lactate, Metabolic acidosis, Congenital lactic acidosis |
OMIM:203740 |
Hydroxykynureninuria |
|
Tachycardia, Abnormal circulating tryptophan concentration, Metabolic acidosis, Renal tubular aci... |
ORPHA:79155 |
Methylmalonyl-Coa Epimerase Deficiency |
|
Metabolic acidosis, Failure to thrive, Elevated circulating palmitoleylcarnitine concentration, H... |
OMIM:251120 |
Cardiomyopathy, Dilated, 2C |
|
Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopat... |
OMIM:618189 |
Familial Cerebral Saccular Aneurysm |
|
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... |
ORPHA:231160 |
3-Methylglutaconic Aciduria Type 4 |
|
Lactic acidosis, Cardiomyopathy, Failure to thrive |
ORPHA:67048 |
Mitochondrial Complex I Deficiency, Nuclear Type 34 |
|
Metabolic acidosis, Lactic acidosis |
OMIM:618776 |
Adult Acute Respiratory Distress Syndrome |
|
Shock, Vasculitis, Metabolic acidosis, Diabetic ketoacidosis, Hypotension, Pancreatitis |
ORPHA:70578 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Increased serum pyruvate, Increased serum lactate, Metabolic acidosis |
OMIM:618225 |
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy |
|
Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level |
OMIM:605115 |
Mitochondrial Complex I Deficiency, Nuclear Type 14 |
|
Increased serum lactate, Lactic acidosis, Hypertrophic cardiomyopathy |
OMIM:618236 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Increased serum pyruvate, Lactic acidosis, Increased serum lactate |
OMIM:614741 |
Pyruvate Carboxylase Deficiency |
|
Increased serum pyruvate, Increased serum lactate, Proximal renal tubular acidosis, Lactic acidos... |
OMIM:266150 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Reduced cerebral white matter volume, Aggressive behavior, Corpus callosum atrophy... |
OMIM:301107 |
Combined Oxidative Phosphorylation Deficiency 48 |
|
Increased serum lactate, Lactic acidosis, Failure to thrive |
OMIM:619012 |
Focal Segmental Glomerulosclerosis 1 |
|
Hypertension, Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Primary Intestinal Lymphangiectasia |
|
Abnormal lymphatic vessel morphology, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia,... |
ORPHA:90362 |
Pituitary Adenoma 4, Acth-Secreting |
|
Pituitary adenoma, Increased circulating ACTH level, Obesity, Alkalosis, Hypertension, Hypokalemi... |
OMIM:219090 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Lactic acidosis, Hyperalaninemia, Increased serum lactate, Bradycardia |
OMIM:614654 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Microcephaly, Stereotypical body rocking, Agitat... |
OMIM:309548 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Hypertension, Failure to thrive, Coarctation of aorta |
OMIM:616069 |
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert |
|
Hypertension, Telangiectases producing 'marbled' skin |
OMIM:206570 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Increased serum lactate, Lactic acidosis, Pulmonary arterial hypertension, Hyperglycinemia, Hyper... |
OMIM:619059 |
Propionic Acidemia |
|
Cerebellar hemorrhage, Hyperammonemia, Lactic acidosis, Cardiomyopathy, Metabolic acidosis, Hyper... |
OMIM:606054 |
Kenny-Caffey Syndrome, Type 1 |
|
Congenital hypoparathyroidism, Hypocalcemia, Hypomagnesemia |
OMIM:244460 |
Cach Syndrome |
|
Cerebellar atrophy, Microcephaly, T2 hypointense thalamus, Truncal ataxia, Cerebral atrophy, Dysm... |
ORPHA:135 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Diabetes mellitus, Hypouricemia, Large for gestational age, Metabolic acidosis, Hypophosphatemia |
OMIM:616026 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Metabolic ketoacidosis, Cerebellar hemorrhage, Hyperammonemia, Cardiomyop... |
OMIM:251000 |
Amoebiasis Due To Free-Living Amoebae |
|
Restlessness, Abnormal medulla oblongata morphology, Ataxia, Abnormal cerebellum morphology, Abno... |
ORPHA:68 |
Extracranial Carotid Artery Aneurysm |
|
Diabetes mellitus, Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Cerebral ... |
ORPHA:494424 |
Aapoaiv Amyloidosis |
|
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Diabetes mellitus, Ca... |
ORPHA:439232 |
Polyarteritis Nodosa |
|
Pericarditis, Elevated circulating C-reactive protein concentration, Raynaud phenomenon, Weight l... |
ORPHA:767 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:241520 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Respiratory alkalosis, Increased serum lactate, Ketoacidosis, Hyperglutaminemia, Low plasma citru... |
OMIM:615751 |
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Lactic acidosis, Increased serum lactate, Elevated circulating creatine kinase concentration, Hyp... |
OMIM:618416 |
Mitochondrial Complex I Deficiency, Nuclear Type 25 |
|
Lactic acidosis, Failure to thrive |
OMIM:618246 |
Melorheostosis With Osteopoikilosis |
|
Hypertension |
ORPHA:1879 |
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Hyperactivity, Decreased response to growth hormone stimulation test, Aggressive behavior, Microc... |
OMIM:615286 |
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Lactic acidosis, Hypertrophic cardiomyopathy |
ORPHA:1369 |
Hypokalemic Periodic Paralysis |
|
Episodic hypokalemia, Adrenocortical adenoma, Mildly elevated creatine kinase, Impaired myocardia... |
ORPHA:681 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hyperactivity, Ataxia, EEG with generalized polyspikes, Aggressive behavior, Abnormal neuron morp... |
ORPHA:163681 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Lactic acidosis, Hypertrophic cardiomyopathy, Failure to thrive, Increased serum lactate |
OMIM:613561 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Arterial stenosis, Cerebral artery atherosclerosis, Hypertension, Type I diabetes mellitus, Coron... |
ORPHA:1192 |
Combined Oxidative Phosphorylation Deficiency 1 |
|
Elevated lactate:pyruvate ratio, Increased serum lactate, Metabolic acidosis |
OMIM:609060 |
Pontocerebellar Hypoplasia Type 2 |
|
Paroxysmal dystonia, Cerebellar vermis hypoplasia, Abnormal cortical gyration, Oral-pharyngeal dy... |
ORPHA:2524 |
Renal Tubular Acidosis, Distal, 1 |
|
Distal renal tubular acidosis, Hypokalemia, Elevated circulating creatinine concentration, Hypoca... |
OMIM:179800 |
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant |
|
Lactic acidosis, Hypertrophic cardiomyopathy |
OMIM:617184 |
Trimethylaminuria |
|
Hypertension, Tachycardia |
OMIM:602079 |
Morgagni-Stewart-Morel Syndrome |
|
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Obesity... |
ORPHA:77296 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Sudden cardiac death, Elevated circulating acylcarnitine concentration, Congestive heart failure,... |
ORPHA:99901 |
Alexander Disease Type I |
|
Cerebellar atrophy, Ataxia, Cachexia, Abnormal thalamic MRI signal intensity, Abnormal cerebral w... |
ORPHA:363717 |
Grange Syndrome |
|
Aortic regurgitation, Hypertension, Patent ductus arteriosus, Arterial stenosis |
ORPHA:79094 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Elevated lactate:pyruvate ratio, Metabolic ketoacidosis, Increased serum lactate, Ketoacidosis, H... |
OMIM:615453 |
Moyamoya Disease 6 With Or Without Achalasia |
|
Raynaud phenomenon, Hypertension, Ischemic stroke, Achalasia, Moyamoya phenomenon |
OMIM:615750 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Elevated lactate:pyruvate ratio, Increased serum lactate, Lactic acidosis, Palpitations, Hyperala... |
OMIM:618250 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Small for gestational age, Hypertension, Elevated circulating creatinine concentration |
OMIM:616733 |
Landau-Kleffner Syndrome |
|
Interictal EEG abnormality, Hyperactivity, EEG with frontal focal spikes, Impulsivity, Aggressive... |
ORPHA:98818 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Small for gestational age, Elevated circulating creatine kinase con... |
OMIM:618775 |
Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Prominent superficial veins, Hypertriglyceridemia, Mater... |
OMIM:604367 |
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To |
|
Metabolic acidosis |
OMIM:231900 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Cerebellar atrophy, Microcephaly, Dysplastic corpus callosum, EEG abnormality, Lissencephaly, Dec... |
OMIM:614833 |
Combined Oxidative Phosphorylation Deficiency 2 |
|
Lactic acidosis, Patent ductus arteriosus, Increased serum lactate, Small for gestational age |
OMIM:610498 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypertension, Hypokalemic alkalosis, Adrenal hyperplasia, Adrenogenital syndrome |
OMIM:202110 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Hypokalemia |
OMIM:613345 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Premature pubarche, Premature thelarche, Isosexual precocio... |
ORPHA:90795 |
Gracile Syndrome |
|
Increased circulating ferritin concentration, Lactic acidosis, Renal Fanconi syndrome, Elevated h... |
ORPHA:53693 |
Cystinosis, Nephropathic |
|
Hyponatremia, Diabetes mellitus, Failure to thrive in infancy, Reduced blood urea nitrogen, Hypop... |
OMIM:219800 |
Combined Malonic And Methylmalonic Acidemia |
|
Dicarboxylic acidemia, Methylmalonic acidemia, Ketoacidosis, Acidosis, Failure to thrive |
ORPHA:289504 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Pulmonary embolism, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy, Arrhythmia |
ORPHA:1345 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Cachexia, Weight loss, Lactic acidosis, Severe lactic acidosis, Failure to thrive |
OMIM:612075 |
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Increased serum pyruvate, Hyperalaninemia, Lactic acidosis, Increased serum lactate |
OMIM:617668 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypovolemia, Metabolic... |
ORPHA:411634 |
Hypotonia-Cystinuria Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Increased ... |
OMIM:606407 |
Beta-Ketothiolase Deficiency |
|
Increased serum lactate, Ketoacidosis, Hyperammonemia, Weight loss, Metabolic acidosis, Hypertens... |
ORPHA:134 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Lactic acidosis, Cardiomyopathy, Hypertrophic cardiomyopathy |
OMIM:615119 |
Fanconi Renotubular Syndrome 1 |
|
Metabolic acidosis, Hypokalemia, Hypophosphatemia |
OMIM:134600 |
Nail-Patella-Like Renal Disease |
|
Hypertension |
ORPHA:2613 |
Fibromuscular Dysplasia, Arterial |
|
Myocardial infarction, Renovascular hypertension, Stroke, Intermittent claudication, Aortic disse... |
OMIM:135580 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Elevated circulating creatine kinase concentration, Increased serum lactate, Obesity, Heart murmu... |
OMIM:615418 |
Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Metabolic acidosis |
OMIM:618224 |
Hartnup Disorder |
|
Episodic ataxia, Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:234500 |
Peripartum Cardiomyopathy |
|
Ventricular tachycardia, Left bundle branch block, Abnormal T-wave, Dilated cardiomyopathy, Obesi... |
ORPHA:563 |
Glycogen Storage Disease Ixa1 |
|
Lactic acidosis, Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia |
OMIM:306000 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypothyroidism, Hypertensio... |
ORPHA:90065 |
Combined Oxidative Phosphorylation Deficiency 4 |
|
Increased serum lactate, Lactic acidosis, Metabolic acidosis, Hyperammonemia |
OMIM:610678 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Delayed early-childhood so... |
ORPHA:300570 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Elevated lactate:pyruvate ratio, Lactic acidosis, Metabolic acidosis, Hyperglycinemia |
OMIM:615330 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Increased serum lactate, Metabolic acidosis, Decreased plasma free carnitine, Failure to thrive, ... |
OMIM:616034 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... |
OMIM:615954 |
Mucolipidosis Iv |
|
Cerebellar atrophy, Cerebral dysmyelination, Microcephaly, Dysplastic corpus callosum, Dystonia |
OMIM:252650 |
Infantile Nephropathic Cystinosis |
|
Abnormality of thyroid physiology, Acidosis, Abnormal blood ion concentration, Hypokalemia, Renal... |
ORPHA:411629 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Aortic regurgitation, Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebr... |
OMIM:132900 |
Familial Isolated Hyperparathyroidism |
|
Hypercalcemia, Primary hyperparathyroidism, Elevated circulating parathyroid hormone level, Hypop... |
ORPHA:99879 |
Coasy Protein-Associated Neurodegeneration |
|
Abnormal globus pallidus morphology, Abnormal caudate nucleus morphology, Compulsive behaviors, E... |
ORPHA:397725 |
Brachydactyly-Arterial Hypertension Syndrome |
|
Hypertension |
ORPHA:1276 |
Nelson Syndrome |
|
Increased urinary cortisol level, Pituitary corticotropic cell adenoma, Adrenocorticotropic hormo... |
ORPHA:199244 |
Sengers Syndrome |
|
Cardiac arrest, Sudden cardiac death, Exercise-induced lactic acidemia, Increased serum lactate, ... |
OMIM:212350 |
Tubulinopathy-Associated Dysgyria |
|
Cerebellar vermis hypoplasia, Ataxia, Microcephaly, Hypoplasia of the pons, Attention deficit hyp... |
ORPHA:467166 |
Hypomagnesemia 3, Renal |
|
Elevated circulating parathyroid hormone level, Hyperuricemia, Hypomagnesemia, Distal renal tubul... |
OMIM:248250 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Elevated circulating creatine kinase concentration, Cardiac arrest, Premature thelarche, Elevated... |
OMIM:616878 |
Hypertension And Brachydactyly Syndrome |
|
Hypertension |
OMIM:112410 |
Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Lactic acidosis, Failure to thrive, Adrenal insufficiency |
OMIM:618238 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Diabetes mellitus, Myocarditis, Hyperkalemia, Hypertension, Hypocalcemia, Pancreati... |
ORPHA:544482 |
Rasmussen Subacute Encephalitis |
|
Hyperactivity, Hemidystonia, Increased theta frequency activity in EEG, Abnormal basal ganglia mo... |
ORPHA:1929 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Cerebral h... |
ORPHA:280679 |
Pheochromocytoma |
|
Tachycardia, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Hyperhidrosis, Episodi... |
OMIM:171300 |
Lissencephaly Due To Tuba1A Mutation |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Agyria, Microcephaly, Hypoplastic anterio... |
ORPHA:171680 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
Caudate atrophy, Basal ganglia calcification, T2 hypointense thalamus, Leukoencephalopathy, EEG a... |
OMIM:618193 |
Pulmonary Hypertension, Primary, 1 |
|
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... |
OMIM:178600 |
Familial Aortic Dissection |
|
Aortic regurgitation, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Descending ao... |
ORPHA:229 |
Sneddon Syndrome |
|
Intracranial hemorrhage, Hypertension, Arterial stenosis |
ORPHA:820 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Elevated circulati... |
OMIM:609015 |
Malonyl-Coa Decarboxylase Deficiency |
|
Lactic acidosis, Dilated cardiomyopathy, Metabolic acidosis, Left ventricular noncompaction cardi... |
OMIM:248360 |
Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Lactic acidosis, Failure to thrive, Metabolic acidosis, Increased serum lactate |
OMIM:618226 |
Lactase Deficiency, Congenital |
|
Metabolic acidosis |
OMIM:223000 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Hypertension |
OMIM:601894 |
Diarrhea 4, Malabsorptive, Congenital |
|
Failure to thrive, Hyperchloremic metabolic acidosis |
OMIM:610370 |
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Cerebellar vermis hypoplasia, Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern,... |
OMIM:620001 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Diabetes mellitus, Maternal diabetes, Congestive heart failure, Insulin-res... |
ORPHA:79083 |
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation |
|
Elevated circulating creatine kinase concentration, Increased serum lactate, Cardiomyopathy, Rena... |
ORPHA:324525 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Cerebral h... |
OMIM:300845 |
Neuroferritinopathy |
|
Resting tremor, Caudate atrophy, Dystonia, Writer's cramp, Abnormal putamen morphology, T2 hypoin... |
ORPHA:157846 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Hyperactivity, Microcephaly, Aggressive behavior, Cryptorchidism, Chorea, Depression, Abnormal ce... |
ORPHA:485350 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Small for gestational age, Increased serum lactate, Hyperammonemia, Lactic acidosis, Metabolic ac... |
OMIM:618253 |
Fanconi-Bickel Syndrome |
|
Diabetes mellitus, Hypertriglyceridemia, Metabolic acidosis, Renal tubular acidosis, Hypophosphat... |
ORPHA:2088 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Lactic acidosis, Cardiomyopathy, Decreased circulating cortisol level, Elevated circulating creat... |
OMIM:618839 |
Leprechaunism |
|
Hyperinsulinemia, Central hypothyroidism, Hypokalemia, Hyperaldosteronism, Increased circulating ... |
ORPHA:508 |
Coenzyme Q10 Deficiency, Primary, 2 |
|
Aortic regurgitation, Elevated lactate:pyruvate ratio, Overweight, Increased serum lactate, Obesi... |
OMIM:614651 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Lactic acidosis, Hypertrophic cardiomyopathy, Decreased circulating cortisol level, Elevated circ... |
OMIM:618835 |
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Increased serum lactate, Hyperammonemia, Lactic acidosis, Hyperalaninemia, Failure to thrive |
OMIM:614739 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Adrenogenital syndrome, ... |
OMIM:202010 |
Tricarboxylic Acid Cycle, Defect Of |
|
Persistent lactic acidosis |
OMIM:275370 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Lactic acidosis, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia |
OMIM:618815 |
Cln5 Disease |
|
Cerebellar atrophy, Hyperactivity, Ataxia, Aggressive behavior, Corpus callosum atrophy, Tremor, ... |
ORPHA:228360 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Increased serum lactate, Failure to thrive, Metabolic acidosis |
OMIM:618958 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Lactic acidosis, Failure to thrive in infancy |
OMIM:619065 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Increased serum lactate, Proximal renal tubular acidosis, Lactic acidosis, Metabolic acidosis, Fa... |
OMIM:615824 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Hyperparathyroidism, Hypoammonemia, Increased serum lactate, Proximal renal tubular... |
ORPHA:534 |
Spinocerebellar Ataxia With Epilepsy |
|
Cerebral infarct, Tremor, Dysmetria, Depression, Gait ataxia, Progressive cerebellar ataxia, Dysd... |
ORPHA:254881 |
Fanconi-Bickel Syndrome |
|
Hypouricemia, Acidosis, Chronic acidosis, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Incre... |
OMIM:227810 |
Craniopharyngioma |
|
Enlarged pituitary gland, Cerebral calcification, Neoplasm of the anterior pituitary, Pituitary h... |
ORPHA:54595 |
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy |
|
Diffuse cerebral atrophy, Decreased thalamic volume, Hypsarrhythmia, Secondary microcephaly, Dysp... |
OMIM:613668 |
Lessel-Kubisch Syndrome |
|
Hypertension, Hypogonadism |
OMIM:618681 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Lactic acidosis, Hypertrophic cardiomyopathy, Small for gestational age |
OMIM:620135 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Cerebellar atrophy, Hyperactivity, Cerebellar vermis hypoplasia, Tremor, Dysmetria, Gait ataxia, ... |
OMIM:618090 |
Lethal Infantile Mitochondrial Myopathy |
|
Cardiomyopathy, Severe lactic acidosis |
ORPHA:254857 |
Mitochondrial Phosphate Carrier Deficiency |
|
Metabolic acidosis, Lactic acidosis, Hypertrophic cardiomyopathy |
OMIM:610773 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... |
OMIM:610475 |
Iga Nephropathy, Susceptibility To, 3 |
|
Hypertension |
OMIM:616818 |
Phenformin 4-Hydroxylation |
|
Lactic acidosis |
OMIM:261590 |
D-Glyceric Aciduria |
|
Metabolic acidosis, Hyperglycinemia, Nonketotic hyperglycinemia, Increased circulating free fatty... |
ORPHA:941 |
Sulfite Oxidase Deficiency, Isolated |
|
Metabolic acidosis, Elevated circulating creatine kinase concentration |
OMIM:272300 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Hyperactivity, Dystonia, Impulsivity, Microcephaly, Aggressive behavior, Impaired pain sensation,... |
ORPHA:500180 |
Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Hyponatremia, Small for gestational age, Increased serum lactate, Metabolic acidosis, Failure to ... |
OMIM:618252 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany, Congenital hypoparathyroidism, Abn... |
ORPHA:93325 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Diabetes mellitus, Adrenal hyperplasia, Increased body weight, Hypertension, Increased circulatin... |
OMIM:615830 |
Iga Nephropathy, Susceptibility To, 2 |
|
Hypertension |
OMIM:613944 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Aortic regurgitation, Aortic dissection, Transient ischemic attack, Subarachnoid hemorrhage, Desc... |
ORPHA:91387 |
Potocki-Shaffer Syndrome |
|
Hypertension, Hypothyroidism, Delayed puberty |
ORPHA:52022 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Diabetes mellitus, Transient ischemic attack, Cerebral hemorrhage, Arterial stenosis, Intracrania... |
ORPHA:136 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypercalcemia, Cerebral hemorrhage... |
ORPHA:276621 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hyperthyroidism, Failure to thrive in infancy, Cachexia, Abnormality of the endocrine system, Abn... |
ORPHA:37042 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... |
OMIM:610489 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hyperparathyroidism, Hypercalcemia, Parathyroid hyperplasia, Elevated circulating parathyroid hor... |
OMIM:612089 |
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent |
|
Increased serum lactate, Metabolic acidosis |
OMIM:617290 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Increased serum lactate, Elevated circulating 2-hydroxybutyric acid concentration, Lactic acidosi... |
OMIM:605711 |
Hsd10 Disease, Infantile Type |
|
Increased serum lactate, Hyperammonemia, Lactic acidosis, Metabolic acidosis, Hypertrophic cardio... |
ORPHA:391428 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Lactic acidosis, Decreased circulating cortisol level, Elevated circulating creatine kinase conce... |
OMIM:618838 |
Isovaleric Acidemia |
|
Ketoacidosis, Cerebellar hemorrhage, Metabolic acidosis |
OMIM:243500 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Increased serum la... |
OMIM:619055 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Periventricular white matter hyperintensities, Attention deficit hype... |
OMIM:301008 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Large for gestational age, Multiple pancreatic... |
ORPHA:79644 |
Succinic Acidemia |
|
Lactic acidosis |
OMIM:600335 |
Renal Tubular Acidosis Iii |
|
Hypokalemia, Bicarbonate-wasting renal tubular acidosis |
OMIM:267200 |
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Increased serum lactate, Failure to thrive, Tetralogy of Fallot, Metabolic acidosis |
ORPHA:88639 |
Mitochondrial Myopathy, Lethal, Infantile |
|
Lactic acidosis |
OMIM:551000 |
Primary Hyperoxaluria Type 1 |
|
Calcinosis, Hyperoxaluria, Metabolic acidosis, Stroke, Abnormality of circulating enzyme level, F... |
ORPHA:93598 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Elevated lactate:pyruvate ratio, Lactic acidosis, Increased serum lactate |
OMIM:612016 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Hypertension, Elevated circulating creatinine concentration |
ORPHA:567544 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Hyperactivity, Cerebellar vermis hypoplasia, Microcephaly, Lateral vent... |
OMIM:617751 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:193100 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Impaired vibratory sensation, Tremor, Dysplastic corpus callosum, Hypoesthesia, Obesity, Secondar... |
OMIM:619737 |
Focal Segmental Glomerulosclerosis 5 |
|
Hypertension |
OMIM:613237 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Adrenal hyperplasia, Decreased circulating ACTH concentration, Hypertension, Increased circulatin... |
OMIM:219080 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Decreased motor nerve conduction velocity, Impaired vibratory sensation, Torticollis, Leukoenceph... |
OMIM:613724 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Hypoperistalsis,... |
OMIM:613834 |
Glutaric Aciduria Iii |
|
Hypertension, Failure to thrive, Hyperthyroidism, Goiter |
OMIM:231690 |
Focal Segmental Glomerulosclerosis 2 |
|
Hypertension |
OMIM:603965 |
Isolated Atp Synthase Deficiency |
|
Dilated cardiomyopathy, Hyperammonemia, Lactic acidosis, Hypogonadism, Arrhythmia, Hyperalaninemi... |
ORPHA:254913 |
Aorta Coarctation |
|
Pseudocoarctation of the aorta, Congestive heart failure, Patent ductus arteriosus, Hypoplastic a... |
ORPHA:1457 |
Coproporphyria, Hereditary |
|
Hypertension, Tachycardia |
OMIM:121300 |
Secondary Intestinal Lymphangiectasia |
|
Right ventricular failure, Reduced circulating transferrin concentration, Intestinal bleeding, Hy... |
ORPHA:90363 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Cerebral atrophy, Inappropr... |
ORPHA:309246 |
Mercury Poisoning |
|
Hypertension, Hypokalemia, Tachycardia, Hypotension |
ORPHA:330021 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Prolonged QT interval, Increased circulating fr... |
ORPHA:71212 |
D-Glyceric Aciduria |
|
Patent ductus arteriosus, Nonketotic hyperglycinemia, Metabolic acidosis, Bradycardia, Failure to... |
OMIM:220120 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Hypertension |
OMIM:607832 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Lactic acidosis, Elevated circulating creatine kinase concentration |
OMIM:609560 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Elevated lactate:pyruvate ratio, Hyperhidrosis, Lactic acidosis, Hyperglycinemia, Failure to thri... |
OMIM:245400 |
Scorpion Envenomation |
|
Bundle branch block, Respiratory alkalosis, Increased circulating NT-proBNP concentration, Hyperh... |
ORPHA:466677 |
Dent Disease 2 |
|
Elevated circulating creatine kinase concentration, Hypophosphatemia |
OMIM:300555 |
Homozygous Familial Hypercholesterolemia |
|
Myocardial infarction, Precocious atherosclerosis, Abnormal internal carotid artery morphology, A... |
ORPHA:391665 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Increased circulating osteocalcin level, Decreased circulating parathyroid hormone level, Increas... |
ORPHA:157215 |
Phenylketonuria |
|
Hyperactivity, Cerebral calcification, Microcephaly, Aggressive behavior, Depression, Irritabilit... |
OMIM:261600 |
Bronchial Neuroendocrine Tumor |
|
Tricuspid regurgitation, Elevated circulating growth hormone concentration, Right ventricular fai... |
ORPHA:97287 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Decreased circulating parathyroid hormone level, Abnormal circulating calcium concentration, Hypo... |
OMIM:241530 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Failure to thrive in infancy, Increased serum lactate, Hyperprolinemia, Pulmonary arterial hypert... |
OMIM:619064 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Small for gestational age, Increased serum lactate, Hyperammonemia, Lactic acidosis, Hypertension... |
OMIM:614052 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Colpocephaly, Polymicrogyria, Agenesis of corpus callosum |
ORPHA:250972 |
Developmental And Epileptic Encephalopathy 82 |
|
Increased serum lactate, Hyperammonemia, Decreased body weight |
OMIM:618721 |
Pituitary Adenoma 1, Multiple Types |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... |
OMIM:102200 |
Aorto-Ventricular Tunnel |
|
Abnormal coronary artery morphology, Aorto-ventricular tunnel, Congestive heart failure, Heart mu... |
ORPHA:3400 |
Mitochondrial Complex I Deficiency, Nuclear Type 8 |
|
Increased serum lactate, Lactic acidosis, Pancreatitis |
OMIM:618230 |
Alstrom Syndrome |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypergonadotropic hypogonadism, De... |
OMIM:203800 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Tachycardia, Abnormal coronary artery morphology, Cardia... |
ORPHA:860 |
Kearns-Sayre Syndrome |
|
Hypoparathyroidism, Diabetes mellitus, Primary adrenal insufficiency, Lactic acidosis, Cardiomyop... |
OMIM:530000 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Hypokalemia |
OMIM:170400 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Conjugated hyperbilirubinemia, Hyperkalemia |
OMIM:608885 |
Mitochondrial Complex I Deficiency, Nuclear Type 26 |
|
Elevated lactate:pyruvate ratio, Increased serum lactate, Metabolic acidosis |
OMIM:618247 |
Infant Botulism |
|
Hyponatremia, Cardiac arrest, Xerostomia, Hypertension, Hypotension |
ORPHA:178478 |
Central Precocious Puberty In Male |
|
Abnormality of the testis size, Aggressive behavior, Pituitary microadenoma, Attention deficit hy... |
ORPHA:649929 |
Tiglic Acidemia |
|
Acidosis |
OMIM:275190 |
Pituitary Apoplexy |
|
Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... |
ORPHA:95613 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Angina pectoris, Diabetes mellitus, Myocardial infarction, Overweight, Hypo... |
ORPHA:90041 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Decreased circulating c... |
OMIM:201750 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Dystonia, Ataxia, Basal ganglia calcification, Chorea, Hypoesthesia, Dysmetria, Thalamic calcific... |
OMIM:618317 |
Pyruvate Dehydrogenase Phosphatase Deficiency |
|
Lactic acidosis |
OMIM:608782 |
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
Cerebellar atrophy, Ataxia, EEG with abnormally slow frequencies, T2 hypointense thalamus, Cerebr... |
ORPHA:1947 |
Adenosine Monophosphate Deaminase Deficiency |
|
Increased serum lactate, Elevated creatine kinase after exercise |
ORPHA:45 |
3-Methylglutaconic Aciduria, Type I |
|
Metabolic acidosis, Failure to thrive |
OMIM:250950 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Elevated circulating parathyroid hormone level, Hypocalcemia, Secondary hyperparathyroidism, Hypo... |
OMIM:264700 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Hyperactivity, Aggressive behavior, Tremor, Cryptorchidism, Cortical dysplasia, Simplified gyral ... |
OMIM:300354 |
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Cerebellar atrophy, Cerebral white matter atrophy, Hyperactivity, Microcephaly, Corpus callosum a... |
ORPHA:369939 |
Hypophosphatemic Bone Disease |
|
Hypophosphatemia |
OMIM:146350 |
Coach Syndrome 2 |
|
Hypertension, Elevated circulating creatinine concentration |
OMIM:619111 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Decreased response to growth hormone stimulation test, Central diabetes insipidus, ... |
ORPHA:293987 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hypertension, Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating al... |
OMIM:613095 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Abnormal circulating biopterin concentration, Maturity-onset diabetes of the young, Hyperphenylal... |
ORPHA:1578 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hypercalcemia, Primary hyperparathyroidism, Elevated circulating parathyroid hormone ... |
OMIM:239200 |
Glucose/Galactose Malabsorption |
|
Metabolic acidosis, Failure to thrive |
OMIM:606824 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Conjugated hyperbilirubinemia, Nephrogenic diabetes insipidus, Metabolic acidosis, Renal tubular ... |
OMIM:613404 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Increased serum pyruvate, Elevated lactate:pyruvate ratio, Cardiac arrest, Increased serum lactat... |
OMIM:604377 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Microcephaly, Tremor, EEG abnormality, Self-injurious behavior, Bruxism, Abnormal ... |
OMIM:618718 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Hyperactivity, Ataxia, Aggressive behavior, Corpus callosum atrophy, Multifoc... |
ORPHA:168491 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Tachycardia, Large for gestational age, Abnormal circulating fatty-acid concentration, Metabolic ... |
ORPHA:263455 |
Tsh-Secreting Pituitary Adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... |
ORPHA:91347 |
Alagille Syndrome 2 |
|
Renal tubular acidosis, Hypertension, Pulmonic stenosis, Tetralogy of Fallot, Peripheral pulmonar... |
OMIM:610205 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Vagal paraganglioma, Tachycardia, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, ... |
OMIM:168000 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Lactic acidosis, Increased serum lactate |
ORPHA:139485 |
Hawkinsinuria |
|
Hypertyrosinemia, Failure to thrive, Metabolic acidosis |
OMIM:140350 |
Joubert Syndrome 23 |
|
Dysplastic corpus callosum, Cerebellar dysplasia |
OMIM:616490 |
Stiff Skin Syndrome |
|
Hypertension, Abnormal circulating lipid concentration, Type II diabetes mellitus |
ORPHA:2833 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hypertension, Hypertriglyceridemia, Hyperinsulinemia |
ORPHA:363400 |
Dietary Iron Overload Disease |
|
Diabetes mellitus, Increased circulating ferritin concentration, Elevated transferrin saturation,... |
ORPHA:139507 |
Riboflavin Transporter Deficiency |
|
Hypertension, Cachexia, Hypogonadism, Diabetes insipidus |
ORPHA:97229 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Interictal EEG abnormality, Cerebral atrophy, Depression, Abnormal cerebral w... |
ORPHA:79264 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Microcephaly, Aggressive behavior, EEG with generalized epileptiform ... |
OMIM:619827 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Accelerated atherosclerosis, Angina pectoris, Congestive heart failu... |
OMIM:264800 |
Glutathione Synthetase Deficiency |
|
Chronic metabolic acidosis |
ORPHA:32 |
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Methylmalonic acidemia, Small for gestational age, Elevated circulating creatine kinase concentra... |
OMIM:612073 |
Glycogen Storage Disease Ic |
|
Spider hemangioma, Chronic pancreatitis, Hyperlipidemia, Lactic acidosis, Hypertension, Xanthelas... |
OMIM:232240 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Proximal renal tubular ... |
ORPHA:3337 |
Cystic Hamartoma Of Lung And Kidney |
|
Hypertension |
ORPHA:2111 |
Fructose Intolerance, Hereditary |
|
Gastrointestinal hemorrhage, Bicarbonaturia, Proximal renal tubular acidosis, Lactic acidosis, Me... |
OMIM:229600 |
Encephalopathy, Ethylmalonic |
|
Lactic acidosis, Elevated circulating butyrylcarnitine concentration, Failure to thrive |
OMIM:602473 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Tachycardia, Intermittent lactic acidemia, Lactic acidosis, Metabolic acidosis, Hyperuricemia, Hy... |
ORPHA:348 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Failure to thrive, Hypocalcemia, Hypophosphatemia |
OMIM:600081 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Metabolic acidosis |
OMIM:611555 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Elevated lactate:pyruvate ratio, Increased serum lactate, Stress/infection-induced lactic acidosi... |
OMIM:252011 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Acute pancreatitis, Elevated circulating creatine kinase concentration, Elevated circulating acyl... |
ORPHA:26791 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Type I diabetes mellitus, Hypertension, Anterior hypopituitarism, Hypohidrosis |
ORPHA:181 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Increased serum lactate, Stroke-like episode, Lactic acidosis, Bradycardia, Pulmonary arterial hy... |
OMIM:619272 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Lactic acidosis, Hypertrophic cardiomyopathy |
OMIM:618241 |
Linear Verrucous Nevus Syndrome |
|
Hypophosphatemia |
ORPHA:2611 |
Mitochondrial Complex I Deficiency, Nuclear Type 17 |
|
Lactic acidosis, Increased serum lactate |
OMIM:618239 |
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1 |
|
Elevated circulating hexacosanoic acid concentration, Increased serum lactate, Lactic acidosis, H... |
OMIM:614388 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypercalcemia, Cerebral hemorrhage... |
ORPHA:29072 |
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect |
|
Increased serum lactate, Cardiomyopathy, Abnormal circulating creatine kinase concentration, Abno... |
ORPHA:521411 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Dilated fourth ventricle, Thick cerebral cortex, Cerebellar vermis hypoplasia, Ataxia, Dystonia, ... |
ORPHA:357058 |
Schimke Immuno-Osseous Dysplasia |
|
Transient ischemic attack, Abnormality of thyroid physiology, Small for gestational age, Congesti... |
ORPHA:1830 |
Adenine Phosphoribosyltransferase Deficiency |
|
Metabolic acidosis, Elevated circulating creatinine concentration |
OMIM:614723 |
3-Hydroxyisobutyric Aciduria |
|
Lactic acidosis, Hypogonadotropic hypogonadism |
ORPHA:939 |
Mitochondrial Dna Depletion Syndrome 17 |
|
Acidosis, Low plasma citrulline, Hyperammonemia |
OMIM:618567 |
Lactic Acidosis, Chronic Adult Form |
|
Hyperuricemia, Chronic lactic acidosis |
OMIM:150170 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject... |
ORPHA:444013 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Elevated circulating acylcarnitine concentration, Increased serum lactate, Lactic acidosis, Abnor... |
OMIM:615838 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hypoplasia of the pons, Abnormality of the anterior commissure, Fusion of the left and right thal... |
OMIM:617542 |
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Generalized dystonia, Cerebellar calcifications, Basal ganglia calcification, Limb ataxia, Thalam... |
OMIM:618824 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Dilated cardiomyopathy, Hyperhidrosis, Lactic acidosis, Hyperglycinemia, Hypertrophic cardiomyopathy |
OMIM:614299 |
Sneddon Syndrome |
|
Hypertension, Stroke, Ischemic stroke, Cerebral hemorrhage |
OMIM:182410 |
Fg Syndrome 3 |
|
Chiari type I malformation, Cryptorchidism, Hyperactivity, Agenesis of corpus callosum |
OMIM:300406 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Elevated circulating creatine kinase concentration, Cardiac arrest, Increased serum lactate, Lact... |
OMIM:617713 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Severe lactic acidosis, Mildly elevated creatine kinase, Decreased circulating carnitine concentr... |
ORPHA:254864 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Lactic acidosis, Hypoalbuminemia, Hyperthreoninemia, Abn... |
ORPHA:247598 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Increased serum pyruvate, Small for gestational age, Increased serum lactate, Lactic acidosis, Co... |
ORPHA:79243 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Lactic acidosis, Delayed puberty |
ORPHA:2598 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Anhidrosis, Hypercalcemia, Obesity, Increased blood urea nitrogen, Hypertension, Delayed puberty |
ORPHA:251004 |
Vitamin D-Dependent Rickets, Type 2A |
|
Elevated circulating parathyroid hormone level, Secondary hyperparathyroidism, Hypophosphatemia, ... |
OMIM:277440 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Increased serum lactate, Hypertrophic cardiomyopathy, Metabolic acidosis |
OMIM:619053 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Increased serum lactate, Increased circulating ferritin concentration, Lactic acidosis, Delayed p... |
OMIM:600462 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Methylmalonic acidemia, Increased serum lactate, Metabolic acidosis |
OMIM:614105 |
Iga Nephropathy, Susceptibility To, 1 |
|
Hypertension |
OMIM:161950 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
|
Cerebellar vermis hypoplasia, Dysplastic corpus callosum, Cerebral atrophy, Cerebellar hypoplasia... |
OMIM:616900 |
Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Failure to thrive, Hyperglutamatemia, Elevated lactat... |
ORPHA:3008 |
Fanconi Renotubular Syndrome 3 |
|
Metabolic acidosis, Elevated circulating creatinine concentration |
OMIM:615605 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Hyperglutamatemia, Increased serum lactate, Low plasma citrulline, Hyperammonemia, Hyperprolinemi... |
OMIM:620358 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Ataxia, Cessation of head growth, Obesity, EEG abnormality, Inappropriate laughter... |
ORPHA:411515 |
Juvenile Paget Disease |
|
Hypertension, Hyperuricemia |
ORPHA:2801 |
Congenital Short Bowel Syndrome |
|
Metabolic acidosis, Failure to thrive, Steatorrhea |
OMIM:615237 |
Myoclonic-Astatic Epilepsy |
|
EEG with polyspike wave complexes, Hyperactivity, EEG with focal spike waves, Ataxia, Microcephal... |
ORPHA:1942 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Acute hyperammonemia, Ketoacidosis, Hyperammonemia, Metabolic acidosis, Hyperleucinemia, Failure ... |
OMIM:210210 |
Enteric Anendocrinosis |
|
Type I diabetes mellitus, Hyperchloremic metabolic acidosis, Portal hypertension |
ORPHA:83620 |
Developmental And Epileptic Encephalopathy 49 |
|
Hyperactivity, Cerebral calcification, Cerebellar vermis hypoplasia, Exaggerated startle response... |
OMIM:617281 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:89937 |
Pediatric-Onset Graves Disease |
|
Atrial fibrillation, Puberty and gonadal disorders, Congestive heart failure, Thyrotoxicosis with... |
ORPHA:525731 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypertriglyceridemia, Congestive heart failure, Pulmonary carcinoid tumor, Intracranial hemorrhag... |
ORPHA:363618 |
C3 Glomerulopathy |
|
Hypertension, Elevated circulating creatinine concentration |
ORPHA:329918 |
Acute Disseminated Encephalomyelitis |
|
Interictal EEG abnormality, Somatic sensory dysfunction, Hypointensity of cerebral white matter o... |
ORPHA:83597 |
Bacterial Toxic-Shock Syndrome |
|
Shock, Tachycardia, Elevated circulating creatine kinase concentration, Increased serum lactate, ... |
ORPHA:36234 |
Senior-Loken Syndrome |
|
Hypertension |
ORPHA:3156 |
Ganglioneuroma |
|
Gastrointestinal hemorrhage, Hypertension, Abnormality of the adrenal glands, Neoplasm of the adr... |
ORPHA:251992 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Hyperactivity, Cerebellar vermis hypoplasia, Aggressive behavior, Dysphoria, Depression, Secondar... |
OMIM:620242 |
Polycystic Kidney Disease 5 |
|
Hypertension |
OMIM:617610 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Hypophosphatemia |
OMIM:612287 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated circulating creatine kinase concentration, Congestive heart failure, Dilated cardiomyopa... |
OMIM:615895 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Tachycardia, Extraadrenal pheochromocytoma, Hyperhidrosis, Glomus jugular tumor, Adrenal pheochro... |
OMIM:605373 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Small for gestational age, Conjugated hyperbilirubinemia, Nephrogenic diabetes insipidus, Metabol... |
OMIM:208085 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Hypophosphatemia |
OMIM:308990 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Hypophosphatemic rickets, Abnormal circulating calcium concentration, Elevated circulating parath... |
OMIM:307800 |
Vipoma |
|
Diabetes mellitus, Hypercalcemia, Follicular thyroid carcinoma, Elevated circulating growth hormo... |
ORPHA:97282 |
Tyrosinemia, Type I |
|
Hypertyrosinemia, Gastrointestinal hemorrhage, Elevated circulating alpha-fetoprotein concentrati... |
OMIM:276700 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Elevated lactate:pyruvate ratio, Elevated circulating creatine kinase concentration... |
OMIM:610505 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Fusion of the cerebellar hemispheres, Occipital encephalocele, Olivopon... |
ORPHA:370959 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Elevated circulating parathyroid hormone level, Hypocalcemia, Secondary hyperparathyroidism, Hypo... |
ORPHA:289157 |
Hyperoxaluria, Primary, Type I |
|
Hyperoxaluria, Raynaud phenomenon, Arterial occlusion, Peripheral arterial stenosis, Atrioventric... |
OMIM:259900 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Cerebellar atrophy, Focal polymicrogyria, Microcephaly, Dysplastic corpus callosum, Partial agene... |
OMIM:619103 |
Livedoid Vasculopathy |
|
Diabetes mellitus, Telangiectasia of the skin, Abnormal capillary morphology, Venous insufficienc... |
ORPHA:542643 |
Double Outlet Right Ventricle |
|
Hypoparathyroidism, Tachycardia, Failure to thrive, Double outlet right ventricle, Heart murmur, ... |
ORPHA:3426 |
Seckel Syndrome 10 |
|
Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Elevated hemoglobin A1c, Elevated ci... |
OMIM:617253 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Prolonged QT interval, Abnormal EKG, Elevated circulating creatine kinase concentration, Elevated... |
ORPHA:480864 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Small for gestational age, Increased serum lactate, Hyperammonemia, Lactic acidosis, Renal tubula... |
OMIM:615471 |
Glycogen Storage Disease Xi |
|
Increased serum pyruvate, Increased serum lactate, Elevated circulating creatine kinase concentra... |
OMIM:612933 |
Heme Oxygenase 1 Deficiency |
|
Epistaxis, Elevated circulating C-reactive protein concentration, Diffuse alveolar hemorrhage, In... |
OMIM:614034 |
Zollinger-Ellison Syndrome |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Elevated circulating parathyroid hormo... |
ORPHA:913 |
New-Onset Refractory Status Epilepticus |
|
Interictal EEG abnormality, Cerebellar edema, Abnormal basal ganglia MRI signal intensity, Multif... |
ORPHA:363558 |
Multiple Endocrine Neoplasia, Type Iia |
|
Hyperparathyroidism, Thyroid C cell hyperplasia, Hypertension, Increased circulating cortisol lev... |
OMIM:171400 |
Congenital Disorder Of Deglycosylation 2 |
|
Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Dysphagia, Hypothalamic ha... |
OMIM:619775 |
Glycogen Storage Disease Ixc |
|
Increased serum lactate, Lactic acidosis, Hypertriglyceridemia |
OMIM:613027 |
Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Increased serum lactate, Hypothyroidism, Mildly elevated creatine kinase |
ORPHA:663 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Metabolic acidosis, Failure to thrive, Small for gestational age |
OMIM:214150 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesions, Elevated circu... |
ORPHA:247691 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Hypertension, Adrenal hyperplasia, Adrenogenital syndrome |
OMIM:201910 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Stress/infection-induced lactic acidosis, Abnormal circulating carnitine concentration, Renal tub... |
ORPHA:431361 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Hypophosphatemia |
OMIM:612286 |
Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Hyperammonemia, Metabolic acidosis, Hyperglycinemia, Failure to thrive |
OMIM:251110 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Acute pancreatitis, Cardiac arrest, Increased serum lactate, Dilated cardiomyopathy, Hyperammonem... |
ORPHA:20 |
Glycogen Storage Disease Ia |
|
Hyperlipidemia, Lactic acidosis, Hypertension, Xanthelasma, Hyperuricemia, Delayed puberty, Pancr... |
OMIM:232200 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Multifocal hyperintensity of cerebral white matter on MRI, Failure to thrive in infancy, Aggressi... |
ORPHA:488627 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Large for gestational age, Aggressive behavior, Dysplastic corpus callosum, Bilateral cryptorchid... |
ORPHA:544488 |
Diarrhea 12, With Microvillus Atrophy |
|
Metabolic acidosis |
OMIM:619445 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, A... |
ORPHA:758 |
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) |
|
Lactic acidosis, Increased serum lactate |
OMIM:614458 |
Glutaric Acidemia I |
|
Metabolic acidosis, Elevated circulating glutaric acid concentration, Failure to thrive |
OMIM:231670 |
Maple Syrup Urine Disease |
|
Lactic acidosis, Elevated circulating branched chain amino acid concentration, Pancreatitis, Elev... |
OMIM:248600 |
Sepsis In Premature Infants |
|
Tachycardia, Small for gestational age, Elevated circulating C-reactive protein concentration, Me... |
ORPHA:90051 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Hypertension, Hypokalemia, Hypocalcemia, Renal artery stenosis |
OMIM:617913 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Metabolic acidosis, Hyperuricemia, Hyperammonemia |
OMIM:246450 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Cachexia, Weight loss, Lactic acid... |
ORPHA:298 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Congestive heart failure, Dilated cardiomyopathy, Lactic acidosis, Stroke, Hypertrophic cardiomyo... |
OMIM:611126 |
Arteriosclerosis, Severe Juvenile |
|
Myocardial infarction, Central retinal vessel vascular tortuosity, Calcification of the aorta, Ar... |
OMIM:208060 |
Amyloidosis, Familial Visceral |
|
Hypertension |
OMIM:105200 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Hyperparathyroidism, Hypocalcemia, Hypophosphatemia |
ORPHA:93160 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Increased serum lactate, Lactic acidosis, Hypoalbuminemia, Hyperalaninemia, Hypertrophic cardiomy... |
OMIM:618329 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:228308 |
Microcephaly, Amish Type |
|
Lactic acidosis, Failure to thrive |
OMIM:607196 |
Infantile Neuroaxonal Dystrophy |
|
Cerebellar atrophy, Hyperactivity, Dystonia, Ataxia, Impulsivity, Cerebellar gliosis, Abnormal ce... |
ORPHA:35069 |
Myopathy With Lactic Acidosis, Hereditary |
|
Lactic acidosis, Palpitations, Increased serum lactate, Elevated circulating creatine kinase conc... |
OMIM:255125 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,... |
ORPHA:729 |
Postorgasmic Illness Syndrome |
|
Hypertension, Xerostomia, Palpitations, Hyperhidrosis |
ORPHA:279947 |
Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Hyperammonemia, Metabolic acidosis, Elevated serum anion gap, Hyperglycin... |
OMIM:251100 |
Mccune-Albright Syndrome |
|
Hyperthyroidism, Elevated circulating growth hormone concentration, Precocious puberty, Abnormali... |
ORPHA:562 |
Fanconi Renotubular Syndrome 2 |
|
Elevated circulating parathyroid hormone level, Hypophosphatemia |
OMIM:613388 |
Alport Syndrome 3A, Autosomal Dominant |
|
Azotemia, Hypertension, Hypophosphatemia |
OMIM:104200 |
Aortic Arch Interruption |
|
Aortic regurgitation, Shock, Tricuspid regurgitation, Blood pressure substantially higher in arms... |
ORPHA:2299 |
Glycerol Kinase Deficiency |
|
Adrenocortical hypoplasia, Hypertriglyceridemia, Small for gestational age, Hyperglycerolemia, Ch... |
OMIM:307030 |
Pseudo-Torch Syndrome 3 |
|
Increased circulating ferritin concentration, Hypertension, Cerebral hemorrhage |
OMIM:618886 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Episodic metabolic acidosis, Acute hyperammonemia, Failure to thrive |
OMIM:210200 |
Erythrocytosis, Familial, 1 |
|
Hypertension, Cerebral hemorrhage, Myocardial infarction |
OMIM:133100 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Hypertension, Dilatation of the cerebral artery |
OMIM:600666 |
Primary Hyperoxaluria |
|
Hyperoxaluria, Heart block, Raynaud phenomenon, Arterial occlusion, Metabolic acidosis, Cardiomyo... |
ORPHA:416 |
Tetanus |
|
Hypertension, Tachycardia, Bradycardia, Elevated circulating creatine kinase concentration |
ORPHA:3299 |
Atrial Fibrillation, Familial, 14 |
|
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval |
OMIM:615378 |
Low Phospholipid-Associated Cholelithiasis |
|
Diabetes mellitus, Overweight, Obesity, Hypertension, Hypercholesterolemia, Pancreatitis |
ORPHA:69663 |
Acquired Generalized Lipodystrophy |
|
Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Abnormal cardiovas... |
ORPHA:79086 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Hypertension, Small for gestational age, Pulmonary arterial hypertension, Vascular dilatation |
OMIM:613320 |
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Hypomagnesemia |
OMIM:248190 |
Leigh Syndrome |
|
Lactic acidosis, Failure to thrive, Increased serum lactate |
OMIM:256000 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... |
OMIM:600376 |
Werner Syndrome |
|
Telangiectasia of the skin, Abnormal cerebral vascular morphology, Myocardial infarction, Congest... |
ORPHA:902 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Lactic acidosis, Failure to thrive, Metabolic acidosis |
OMIM:615595 |
Methylcobalamin Deficiency Type Cble |
|
Hypomethioninemia, Failure to thrive, Hypertension, Hyperhomocystinemia |
ORPHA:2169 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Patent ductus arteriosus, Hypertension, Tachycardia |
OMIM:613870 |
Parathyroid Carcinoma |
|
Hypercalcemia, Shortened QT interval, Primary hyperparathyroidism, Abnormal parathyroid morpholog... |
ORPHA:143 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Increased serum pyruvate, Elevated circulating dodecanoylcarnitine concentration, Elevated circul... |
OMIM:619355 |
Multiple Endocrine Neoplasia, Type I |
|
Hypercalcemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, ... |
OMIM:131100 |
Glutathione Synthetase Deficiency |
|
Chronic metabolic acidosis |
OMIM:266130 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Hypertension, Mitral regurgitation, Cerebral berry aneurysm |
OMIM:173900 |
Rabson-Mendenhall Syndrome |
|
Increased pineal volume, Precocious puberty, Insulin-resistant diabetes mellitus, Fasting hyperin... |
ORPHA:769 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Cerebellar atrophy, Abnormal basal ganglia MRI signal intensity, Abnormal mitochondrial shape, De... |
ORPHA:485421 |
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Increased serum pyruvate, Increased serum lactate, Elevated circulating creatine kinase concentra... |
ORPHA:2364 |
Juvenile Polyposis Syndrome |
|
Hematochezia, Hypokalemia, Failure to thrive, Hypoalbuminemia |
OMIM:174900 |
Cryoglobulinemia, Familial Mixed |
|
Hypertension, Elevated circulating creatinine concentration |
OMIM:123550 |
Ppoma |
|
Gastrointestinal hemorrhage, Hypercalcemia, Elevated circulating growth hormone concentration, Ab... |
ORPHA:97278 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased body weight, ... |
ORPHA:264580 |
Glycogen Storage Disease Ib |
|
Hyperlipidemia, Lactic acidosis, Hypertension, Xanthelasma, Hyperuricemia, Delayed puberty, Pancr... |
OMIM:232220 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Failure to thrive, Left-to-right shunt, Congestive heart failure, Patent ductus arteriosus, Left ... |
ORPHA:99050 |
Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Adrenal hyperplasia, Abnormal cerebral vascular morphology, Primary adrenal i... |
ORPHA:3453 |
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Acidosis |
OMIM:204730 |
Aicardi-Goutieres Syndrome 9 |
|
Pericarditis, Acute pancreatitis, Portal hypertension, Weight loss, Hypertension, Hypoalbuminemia... |
OMIM:619487 |
Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Prominent superficial veins, Hypertriglyceridemia, Acute... |
OMIM:151660 |
Systemic Lupus Erythematosus 17 |
|
Raynaud phenomenon, Mitral regurgitation, Hypertensive crisis |
OMIM:301080 |
Porphyria Variegata |
|
Hyponatremia, Tachycardia, Abnormal circulating porphyrin concentration, Hypertension, Inappropri... |
ORPHA:79473 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypoparathyroidism, Hypercalcemia, Hypophosphatemia |
OMIM:156400 |
Arterial Tortuosity Syndrome |
|
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congestive heart failure, Myoc... |
ORPHA:3342 |
Leigh Syndrome |
|
Cerebellar atrophy, Abnormal basal ganglia MRI signal intensity, Neuronal loss in basal ganglia, ... |
ORPHA:506 |
Somatostatinoma |
|
Gastrointestinal hemorrhage, Diabetes mellitus, Hypercalcemia, Elevated circulating growth hormon... |
ORPHA:97283 |
Serotonin Syndrome |
|
Tachycardia, Hyperhidrosis, Lactic acidosis, Hypertension, Hypotension |
ORPHA:43116 |
Oculoskeletodental Syndrome |
|
Abnormal thalamus morphology, Dysplastic corpus callosum, Focal white matter lesions |
ORPHA:557003 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hyperactivity, Ataxia, EEG with abnormally slow frequencies, Abnormal eating behavior, Tremor, Ce... |
ORPHA:98794 |
Infantile Liver Failure Syndrome 1 |
|
Lactic acidosis, Failure to thrive |
OMIM:615438 |
Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Abnormal substantia nigra morphology, Dystonia, Anorex... |
ORPHA:79139 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Hypertension |
OMIM:166300 |
Holocarboxylase Synthetase Deficiency |
|
Lactic acidosis, Metabolic acidosis, Hyperammonemia |
OMIM:253270 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... |
ORPHA:652 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Failure to thrive, Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern, Hypoplasia... |
OMIM:619179 |
Overlap Myositis |
|
Diabetes mellitus, Elevated circulating creatine kinase concentration, Raynaud phenomenon, Hypert... |
ORPHA:206572 |
Hyperglycinemia, Lactic Acidosis, And Seizures |
|
Lactic acidosis, Hypertrophic cardiomyopathy, Increased serum lactate |
OMIM:614462 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Hypertension, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Hypertension, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Hypertension, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612926 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Ataxia, Aggressive behavior, Cortical dysplasia, EEG abnormality, Impaired social ... |
OMIM:610042 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Microcephaly |
OMIM:619955 |
Immunodeficiency 87 And Autoimmunity |
|
Hypertriglyceridemia, Small for gestational age, Elevated circulating C-reactive protein concentr... |
OMIM:619573 |
Acquired Methemoglobinemia |
|
Tachycardia, Syncope, Palpitations, Arrhythmia, Acidosis |
ORPHA:464453 |
Nephroblastoma |
|
Hypertension, Weight loss |
ORPHA:654 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Hypertension, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612924 |
Pyridoxine-Dependent Epilepsy |
|
Lactic acidosis |
ORPHA:3006 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Prolonged QT interval, Hyperthyroidism, Bidirectional ventricular ectopy, Hypokalemia, Syncope, P... |
OMIM:170390 |
Schimke Immunoosseous Dysplasia |
|
Transient ischemic attack, Small for gestational age, Elevated circulating thyroid-stimulating ho... |
OMIM:242900 |
Liver Failure, Infantile, Transient |
|
Lactic acidosis, Increased serum lactate, Hypoalbuminemia, Hyperbilirubinemia |
OMIM:613070 |
Grfoma |
|
Gastrointestinal hemorrhage, Hypercalcemia, Elevated circulating growth hormone concentration, Ne... |
ORPHA:97261 |
Beta-Ureidopropionase Deficiency |
|
Increased serum lactate, Elevated circulating N-carbamyl-beta-alanine concentration, Metabolic ac... |
OMIM:613161 |
Familial Dysautonomia |
|
Hyponatremia, Orthostatic hypotension, Tachycardia, Hyperhidrosis, Hypohidrosis, Hypertension |
ORPHA:1764 |
Fibrous Dysplasia Of Bone |
|
Hyperthyroidism, Precocious puberty in females, Hypercalcemia, Elevated circulating growth hormon... |
ORPHA:249 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Myocardial infarction, Elevated circulating creatinine concentration, Hypertension,... |
ORPHA:90038 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Portal hypertension, Elevated circulating alpha-fetoprotein concentration, Lactic acidosis, Hypoa... |
OMIM:251880 |
Ethylmalonic Encephalopathy |
|
Lactic acidosis, Failure to thrive |
ORPHA:51188 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Elevated circulating creatine kinase concentration, Increased serum lactate, Left bundle branch b... |
OMIM:610131 |
Igg4-Related Retroperitoneal Fibrosis |
|
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... |
ORPHA:49041 |
Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Angina pectoris, Transient ischemic attack, Tel... |
ORPHA:324 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Lactic acidosis, Cardiomyopathy, Increased serum lactate |
OMIM:617710 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:85450 |
Arterial Tortuosity Syndrome |
|
Aortic regurgitation, Carotid artery dissection, Pulmonary artery stenosis, Hypertension, Aortic ... |
OMIM:208050 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Hypertension, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612925 |
Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Elevated circulating creatine kinase c... |
ORPHA:90068 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Myocardial infarction, Congestive... |
ORPHA:183 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Metabolic acidosis, Tachycardia |
OMIM:229700 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Cerebellar atrophy, Hyperactivity, Dystonia, Impulsivity, Neurofibrillary tangles, Chorea, Cerebr... |
OMIM:610217 |
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Elevated hemoglobin A1c, Increased serum lactate, Lactic acidosis, Hypertrophic cardiomyopathy, F... |
OMIM:616539 |
Lujo Hemorrhagic Fever |
|
Shock, Elevated circulating C-reactive protein concentration, Myocarditis, Hyperhidrosis, Subconj... |
ORPHA:319213 |
Renal Tubular Acidosis, Proximal |
|
Hyperchloremic acidosis, Renal tubular acidosis, Proximal renal tubular acidosis |
OMIM:179830 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Lactic acidosis, Hypertrophic cardiomyopathy, Hypergonadotropic hypogonadism, Elevated circulatin... |
OMIM:607426 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Dysplastic corpus callosum, Failure to thrive, Microcephaly |
OMIM:604273 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hypomethioninemia, Pulmonary embolism, Dilated cardiomyopathy, Subdural h... |
ORPHA:79282 |
Fabry Disease |
|
Angina pectoris, Transient ischemic attack, Myocardial infarction, Congestive heart failure, Hypo... |
OMIM:301500 |
Even-Plus Syndrome |
|
Dysplastic corpus callosum, Agenesis of corpus callosum |
OMIM:616854 |
Marburg Hemorrhagic Fever |
|
Shock, Tachycardia, Pericarditis, Abnormality of acid-base homeostasis, Elevated circulating crea... |
ORPHA:99826 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Increased serum lactate, Lactic acidosis |
OMIM:615578 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Hyperactivity, Aggressive behavior, Low frustration tolerance, Compulsive behaviors, Impaired soc... |
OMIM:309520 |
Autosomal Dominant Polycystic Kidney Disease |
|
Elevated circulating creatinine concentration, Hypertension, Aortic root aneurysm, Dilatation of ... |
ORPHA:730 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Hydranencephaly, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Aplasia/Hypoplasia of t... |
ORPHA:2570 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Hypercalcemia, Shortened QT interval, Primary hyperparathyroidism, Abnormal parathyroid morpholog... |
ORPHA:99880 |
Barth Syndrome |
|
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur... |
OMIM:302060 |
Melas |
|
Wolff-Parkinson-White syndrome, Hypoparathyroidism, Diabetes mellitus, Hypogonadotropic hypogonad... |
ORPHA:550 |
Choreoacanthocytosis |
|
Caudate atrophy, Chorea, Compulsive behaviors, Limb dystonia, Laryngeal dystonia, Decreased ampli... |
ORPHA:2388 |
Frasier Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Hypertens... |
ORPHA:347 |
Lead Poisoning |
|
Decreased HDL cholesterol concentration, Small for gestational age, Increased LDL cholesterol con... |
ORPHA:330015 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Elevated circulating creatine kinase concentration, Increased serum lactate, Lactic acidosis, Hig... |
OMIM:251900 |
Microvillus Inclusion Disease |
|
Metabolic acidosis, Hypovolemia |
ORPHA:2290 |
Oncogenic Osteomalacia |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:352540 |
Pearson Marrow-Pancreas Syndrome |
|
Small for gestational age, Lactic acidosis, Metabolic acidosis, Renal Fanconi syndrome, Hyperbili... |
OMIM:557000 |
Cirrhosis, Familial |
|
Increased level of propylene glycol in blood, Hypertension, Pulmonary arterial hypertension |
OMIM:215600 |
Paroxysmal Hemicrania |
|
Hypertension, Diabetes mellitus |
ORPHA:157835 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Abnormal fear-induced behavior, Agitation, Restlessness, Depression |
ORPHA:100924 |
Osteopetrosis With Renal Tubular Acidosis |
|
Elevated circulating creatine kinase concentration, Distal renal tubular acidosis, Proximal renal... |
ORPHA:2785 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Orthostatic hypotension, Tachycardia, Episodic hyperhidrosis, Elevated circulating creatinine con... |
OMIM:223900 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:300554 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hypertension, Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea... |
OMIM:235400 |
Isolated Complex I Deficiency |
|
Increased serum pyruvate, Diabetes mellitus, Lactic acidosis, Hypertrophic cardiomyopathy, Failur... |
ORPHA:2609 |
Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Microcephaly, Chiari type I malformation, Hypothalamic hamartoma, Anteri... |
OMIM:241800 |
Familial Bicuspid Aortic Valve |
|
Aortic regurgitation, Aortic arch aneurysm, Heart murmur, Coarctation of aorta, Hypertension, Asc... |
ORPHA:402075 |
Proximal Renal Tubular Acidosis |
|
Bicarbonaturia, Hypovolemia, Bicarbonate-wasting renal tubular acidosis, Hypokalemia, Failure to ... |
ORPHA:47159 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Premature thelarche, Atrioventricular block, Coarctation of aorta, Hypertension, Type I diabetes ... |
ORPHA:371428 |
Pseudo-Torch Syndrome 2 |
|
Lactic acidosis, Patent ductus arteriosus, Bradycardia, Cerebral hemorrhage |
OMIM:617397 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Lactic acidosis, Increased serum lactate, Elevated hepatic iron concentration |
OMIM:614946 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Lactic acidosis, Cardiomyopathy, Increased serum lactate, Renal tubular acidosis |
OMIM:614922 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Disorganization of the anterior cerebellar vermis, Hyperactivity, Cerebellar vermis hypoplasia, C... |
OMIM:300486 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypertriglyceridemia, Epistaxis, Hyperlipidemia, Thyroiditis, Lactic acidosis, Hypertension, Xant... |
ORPHA:79259 |
Monosomy 18P |
|
Hypertension, Hypothyroidism |
ORPHA:1598 |
Alagille Syndrome |
|
Telangiectasia of the skin, Hypertension, Delayed puberty, Failure to thrive, Peripheral pulmonar... |
ORPHA:52 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Decreased response to growth hormone stimulation test, Portal hypertension, Ascending aorta hypop... |
OMIM:619503 |
Galloway-Mowat Syndrome 3 |
|
Hypertension, Failure to thrive, Hypoalbuminemia, Coarctation of aorta |
OMIM:617729 |
Simple Cryoglobulinemia |
|
Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Raynaud phenomenon, Congestive ... |
ORPHA:91139 |
Prader-Willi Syndrome |
|
Diabetes mellitus, Decreased response to growth hormone stimulation test, Precocious puberty, Dec... |
ORPHA:739 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Lactic acidosis, Failure to thrive, Elevated circulating alpha-fetoprotein concentration, Increas... |
OMIM:614924 |
Glucagonoma |
|
Gastrointestinal hemorrhage, Diabetes mellitus, Hypercalcemia, Elevated circulating growth hormon... |
ORPHA:97280 |
Nephronophthisis 18 |
|
Hypertension |
OMIM:615862 |
Osteootohepatoenteric Syndrome |
|
Hypokalemia, Failure to thrive, Increased serum bile acid concentration, Weight loss |
OMIM:619377 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Diabetes mellitus, Hyperthyroidism, Hypertension, Aortic root aneurysm, Hypothyroidism |
ORPHA:449291 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Hypertension, Hypothyroidism |
OMIM:617763 |
Distal Renal Tubular Acidosis |
|
Decreased serum bicarbonate concentration, Hypokalemia, Failure to thrive, Hyperchloremic metabol... |
ORPHA:18 |
Xfe Progeroid Syndrome |
|
Hypertension, Failure to thrive, Hypoalbuminemia, Cachexia |
OMIM:610965 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Metabolic acidosis |
OMIM:602199 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Cardiomyopathy, Episodic metabolic acidosis, Failure to thrive |
OMIM:201470 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Tricuspid regurgitation, Dilated cardiomyopathy, Lactic acidosis, Mitral regurgitation, Left vent... |
OMIM:619167 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Increased serum lactate, Lactic acidosis, Renal Fanconi syndrome, Hypertrophic cardiomyopathy, Fa... |
OMIM:220110 |
Oligomeganephronia |
|
Small for gestational age, Hypertension, Pulmonary venous occlusion, Elevated circulating creatin... |
ORPHA:2260 |
Acute Interstitial Pneumonia |
|
Hypertension, Elevated circulating creatinine concentration, Elevated circulating C-reactive prot... |
ORPHA:79126 |
Combined Oxidative Phosphorylation Deficiency 32 |
|
Lactic acidosis, Increased serum lactate |
OMIM:617664 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Methylmalonic acidemia, Increased serum lactate, Patent ductus arteriosus, Coarctation of aorta, ... |
ORPHA:17 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Increased serum lactate, Shortened PR interval, Obesity, Hyperten... |
OMIM:614947 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Hyperhomocystinemia, Cystathioninemia, Metabolic acido... |
OMIM:277400 |
Bardet-Biedl Syndrome |
|
Hypertension, Hypoplasia of the ovary, Hypogonadism, Obesity |
ORPHA:110 |
Stiff-Person Syndrome |
|
Hypertension, Tachycardia, Diabetes mellitus, Hyperhidrosis |
OMIM:184850 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Lactic acidosis |
OMIM:618240 |
Denys-Drash Syndrome |
|
Hypertension |
ORPHA:220 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypertyrosinemia, Elevated lactate:pyruvate ratio, Increased serum lactate, Lactic acidosis, Meta... |
OMIM:124000 |
Granulomatosis With Polyangiitis |
|
Gastrointestinal hemorrhage, Pericarditis, Recurrent intrapulmonary hemorrhage, Angina pectoris, ... |
ORPHA:900 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased body weight, ... |
ORPHA:79240 |
Autosomal Dominant Dopa-Responsive Dystonia |
|
Hypertension, Hypothyroidism, Transient hyperphenylalaninemia |
ORPHA:98808 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto... |
ORPHA:137675 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Transient ischemic attack, Myocardial infarction, Increased serum lactate, Elevated circulating c... |
OMIM:274150 |
Postinfectious Vasculitis |
|
Abnormal circulating protein concentration, Cerebral vasculitis, Elevated circulating C-reactive ... |
ORPHA:48435 |
47,Xyy Syndrome |
|
Hyperactivity, Macroorchidism, Impulsivity, Cryptorchidism, Increased circulating gonadotropin le... |
ORPHA:8 |
Nestor-Guillermo Progeria Syndrome |
|
Prominent superficial veins, Decreased serum leptin, Right bundle branch block, Hypertension, Mit... |
OMIM:614008 |
Congenital Heart Defects, Multiple Types, 6 |
|
Hypoplastic pulmonary veins, Left ventricular outflow tract obstruction, Coarctation of aorta, Ri... |
OMIM:613854 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Lactic acidosis, Hypertrophic cardiomyopathy, Failure to thrive, Renal Fanconi syndrome |
ORPHA:436271 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Dysplastic corpus callosum, Failure to thrive, Secondary microcephaly |
OMIM:619423 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Lactic acidosis |
OMIM:245348 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Small for gestational age, Increased serum lactate, Hyperammonemia, Coarctation of aorta, Lactic ... |
OMIM:220111 |
Cerebrofacioarticular Syndrome |
|
Cerebellar vermis hypoplasia, Ataxia, Microcephaly, Dysplastic corpus callosum, Self-injurious be... |
ORPHA:314679 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Lactic acidosis, Low plasma citrulline |
OMIM:261680 |
Yellow Fever |
|
Shock, Acute pancreatitis, Elevated circulating creatine kinase concentration, Supraventricular a... |
ORPHA:99829 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Overweight, Hematochezia, Renal tubular acidosis, Metabolic acidosis, Failure to thrive, Peripher... |
OMIM:619575 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Impaired vibratory sensation, Impaired distal proprioception, Abnormal thalamic MRI signal intens... |
ORPHA:70595 |
Fumarase Deficiency |
|
Lactic acidosis, Failure to thrive, Metabolic acidosis, Hyperbilirubinemia |
OMIM:606812 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Renal artery aneurysm, Portal hypertension, Elevated circulating C-reactive protein concentration... |
OMIM:615688 |
Neuroblastoma, Susceptibility To, 1 |
|
Hypertension, Failure to thrive, Weight loss |
OMIM:256700 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Lactic acidosis |
ORPHA:1170 |
Aortic Valve Disease 2 |
|
Aortic regurgitation, Calcification of the aorta, Coarctation of aorta, Mitral regurgitation, Asc... |
OMIM:614823 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Episodic hypertension |
OMIM:619483 |
Carney Triad |
|
Gastrointestinal hemorrhage, Tachycardia, Hypertension, Pheochromocytoma, Adrenocortical adenoma,... |
ORPHA:139411 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Lactic acidosis, Decreased body weight |
ORPHA:255138 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Hyperactivity, Microcephaly, EEG with burst suppression, Hypsarrhythmia, Failure to thrive |
OMIM:619239 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hydrocele testis, Dysplastic corpus callosum, Cerebellar hypoplasia |
OMIM:618810 |
Early Infantile Epileptic Encephalopathy |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Hyperactivity, EEG with spike-wave complexes, Micro... |
ORPHA:1934 |
Kapur-Toriello Syndrome |
|
Pachygyria, Dysplastic corpus callosum, Failure to thrive, Polymicrogyria |
ORPHA:2328 |
Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... |
ORPHA:1227 |
Tay-Sachs Disease |
|
Cerebellar atrophy, Exaggerated startle response, Hypointensity of cerebral white matter on MRI, ... |
ORPHA:845 |
Brain-Lung-Thyroid Syndrome |
|
Hyperactivity, Ataxia, Microcephaly, Abnormal eating behavior, Chorea, Abnormal drinking behavior... |
ORPHA:209905 |
Acute Intermittent Porphyria |
|
Hyponatremia, Hypertension, Tachycardia, Hyperhidrosis |
ORPHA:79276 |
Combined Oxidative Phosphorylation Defect Type 7 |
|
Ataxia, Oral-pharyngeal dysphagia, Abnormal thalamic MRI signal intensity, Distal sensory impairm... |
ORPHA:254930 |
Coach Syndrome 1 |
|
Vascular dilatation, Hypertension, Portal hypertension |
OMIM:216360 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Metabolic acidosis |
OMIM:201450 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Abnormal lateral ventricle morphology, Hyperactivity, Impulsivity, Aggressive behavior, Abnormal ... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Abnormal lateral ventricle morphology, Hyperactivity, Impulsivity, Aggressive behavior, Abnormal ... |
ORPHA:353277 |
Cockayne Syndrome Type 1 |
|
Hypohidrosis, Hypertension, Increased blood urea nitrogen, Male hypogonadism, Failure to thrive |
ORPHA:90321 |
Dent Disease 1 |
|
Hypophosphatemia |
OMIM:300009 |
Von Hippel-Lindau Disease |
|
Pancreatic islet cell adenoma, Myocardial infarction, Myocarditis, Pancreatic endocrine tumor, Hy... |
ORPHA:892 |
Atypical Werner Syndrome |
|
Abnormal cerebral vascular morphology, Fasting hyperinsulinemia, Premature arteriosclerosis, Abno... |
ORPHA:79474 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Hypertension, Elevated circulating creatinine concentration, Hyperuricemia, Hypotension |
OMIM:174000 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Myocardial infarction, Decreased serum iron, Pulmonary embolism, Hypertension, Renal Fanconi synd... |
ORPHA:447 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Lactic acidosis, Failure to thrive, Large for gestational age |
OMIM:614520 |
Cutis Marmorata Telangiectatica Congenita |
|
Hypertension, Telangiectasia |
OMIM:219250 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Elevated circulating creatine kinase concentration, Hyperhidrosis, Abnormal ... |
ORPHA:99827 |
Mccune-Albright Syndrome |
|
Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio... |
OMIM:174800 |
Ochoa Syndrome |
|
Hypertension |
ORPHA:2704 |
Gaucher Disease, Type I |
|
Epistaxis, Hypertension, Mitral regurgitation, Pulmonary arterial hypertension, Aortic valve sten... |
OMIM:230800 |
Diffuse Cutaneous Systemic Sclerosis |
|
Telangiectasia of the skin, Congestive heart failure, Xerostomia, Pulmonary arterial hypertension... |
ORPHA:220393 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hypertension, Hyperlipidemia, Hypoalbuminemia, Pulmonary embolism |
ORPHA:567546 |
3P25.3 Microdeletion Syndrome |
|
Cerebral white matter atrophy, Ataxia, Abnormal repetitive mannerisms, Attention deficit hyperact... |
ORPHA:435638 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Hypertension |
OMIM:618061 |
Multiple Endocrine Neoplasia Type 2 |
|
Paraganglioma of head and neck, Hypercalcemia, Thyroid C cell hyperplasia, Primary hyperparathyro... |
ORPHA:653 |
Spondyloenchondrodysplasia |
|
Decreased response to growth hormone stimulation test, Raynaud phenomenon, Vasculitis, Hypertensi... |
ORPHA:1855 |
Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Increased circulating cortisol level, Adrenal hyperplasia |
OMIM:614190 |
Aicardi-Goutieres Syndrome 7 |
|
Hematemesis, Increased circulating ferritin concentration, Vasculitis, Weight loss, Hematochezia,... |
OMIM:615846 |
Cushing Disease |
|
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... |
ORPHA:96253 |
Interstitial Lung And Liver Disease |
|
Lactic acidosis, Failure to thrive, Hypothyroidism, Hyperammonemia |
OMIM:615486 |
Generalized Arterial Calcification Of Infancy |
|
Medial calcification of large arteries, Transient ischemic attack, Left ventricular systolic dysf... |
ORPHA:51608 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Elevated circulating deoxyuridine concentration, Cachexia, Weight loss, Lactic acidosis, Elevated... |
OMIM:603041 |
Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Lactic acidosis |
OMIM:618232 |
Opsismodysplasia |
|
Hypophosphatemia |
OMIM:258480 |
Liver Disease, Severe Congenital |
|
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti... |
OMIM:619991 |
Autosomal Recessive Malignant Osteopetrosis |
|
Pulmonary arterial hypertension, Pulmonary artery stenosis, Hypocalcemia, Hypophosphatemia |
ORPHA:667 |
Alexander Disease |
|
Diabetes mellitus, Sudden cardiac death, Precocious puberty, Hyperhidrosis, Hypertension, Hypoten... |
ORPHA:58 |
Joubert Syndrome 14 |
|
Intracranial hemorrhage, Hypertension |
OMIM:614424 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Cryptorchidism, ... |
ORPHA:353281 |
Isolated Ectopia Lentis |
|
Hypertension |
ORPHA:1885 |
Periodic Fever, Menstrual Cycle-Dependent |
|
Increased circulating cortisol level |
OMIM:614674 |
Xq21 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Pi... |
ORPHA:1435 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Elevated lactate:pyruvate ratio, Concentric hypertrophic cardiomyopathy, Lactic acidosis, Severe ... |
OMIM:252010 |
Proximal Spinal Muscular Atrophy |
|
Metabolic acidosis, Bradycardia |
ORPHA:70 |
Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Paraganglioma of head and neck, Tachycardia, Extraadrenal pheochromocytoma, Hyperhidrosis, Adrena... |
OMIM:115310 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Cryptorchidism, Attention deficit hyperactivity disorder, Abnormal thalamus morphology, Compulsiv... |
ORPHA:404440 |
Senior-Boichis Syndrome |
|
Hypertension, Carotid artery dilatation, Portal hypertension, Increased total bilirubin |
ORPHA:84081 |
Renal Hypodysplasia/Aplasia 1 |
|
Hypertension |
OMIM:191830 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ataxia, Impulsivity, Aggressive behavior, Tremor, Dysplastic corpus callosum, Cryptorchidism, Thi... |
OMIM:300967 |
Aceruloplasminemia |
|
Torticollis, Dystonia, Ataxia, Tremor, Chorea, Craniofacial dystonia, Abnormal thalamic MRI signa... |
ORPHA:48818 |
Orofaciodigital Syndrome Vi |
|
Cerebellar vermis hypoplasia, Porencephalic cyst, Hypothalamic hamartoma, Occipital meningocele, ... |
OMIM:277170 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Dysplastic corpus callosum, Head-banging, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:618569 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Ataxia, Anterior pituitary hypoplasia, Shyness, Aggressive behavior, Dysplastic corpus callosum, ... |
ORPHA:466791 |
Cardiac Diverticulum |
|
Ventricular tachycardia, Pulmonary artery hypoplasia, Abnormal EKG, Patent ductus arteriosus, Pul... |
ORPHA:1686 |
Hardikar Syndrome |
|
Decreased serum insulin-like growth factor 1, Portal hypertension, Hematemesis, Patent ductus art... |
OMIM:301068 |
Amish Lethal Microcephaly |
|
Metabolic acidosis |
ORPHA:99742 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hyponatremia, Hypokalemia, Failure to thrive |
OMIM:618426 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Abnormal circulating pregnenolone concentration, Abnormal response to human chorionic gonadotroph... |
ORPHA:95699 |
Renal Hypoplasia |
|
Hypertension, Small for gestational age |
ORPHA:93101 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Lactic acidosis, Cardiomyopathy, Increased serum lactate |
ORPHA:572798 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Hypertension |
OMIM:619758 |
Wagro Syndrome |
|
Hypertension, Obesity |
OMIM:612469 |
Caudal Regression Syndrome |
|
Hypertension, Maternal diabetes |
ORPHA:3027 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Hypertension, Aortic root aneurysm |
OMIM:616914 |
Alkaptonuria |
|
Coronary artery calcification, Myocardial infarction, Hypertension, Prostatitis, Atherosclerosis |
ORPHA:56 |
Alport Syndrome |
|
Hypertension, Renal glomerular foam cells, Aortic aneurysm, Abnormal aortic morphology |
ORPHA:63 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Myocardial infarction, Pituitary corticotropic cell adenoma, Neoplasm of the... |
ORPHA:99889 |
Lipodystrophy, Familial Partial, Type 7 |
|
Orthostatic hypotension, Hypertriglyceridemia, Small for gestational age, Pulmonary arteriovenous... |
OMIM:606721 |
Papillorenal Syndrome |
|
Hypertension, Elevated circulating creatinine concentration |
OMIM:120330 |
Raine Syndrome |
|
Hypophosphatemia |
OMIM:259775 |
Bardet-Biedl Syndrome 1 |
|
Diabetes mellitus, Nephrogenic diabetes insipidus, Obesity, Hypertension, Truncal obesity, Abdomi... |
OMIM:209900 |
Microcephaly 29, Primary, Autosomal Recessive |
|
Hyperactivity, Ataxia, Simplified gyral pattern, Primary microcephaly, Emotional lability, Enlarg... |
OMIM:620047 |
Hutchinson-Gilford Progeria Syndrome |
|
Myocardial infarction, Intracranial hemorrhage, Raynaud phenomenon, Carotid artery occlusion, Mit... |
ORPHA:740 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Tricuspid regurgit... |
OMIM:619534 |
Orofaciodigital Syndrome Type 6 |
|
Cerebellar vermis hypoplasia, Ataxia, Bilateral cryptorchidism, Tremor, Aplasia/Hypoplasia of the... |
ORPHA:2754 |
Porphyria, Acute Intermittent |
|
Hypertension, Tachycardia |
OMIM:176000 |
Adenine Phosphoribosyltransferase Deficiency |
|
Hypertension, Atrial fibrillation |
ORPHA:976 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Retinal hemorrhage, Hyperhidrosis, Hypertension, Bradycardia |
OMIM:614653 |
Poliomyelitis |
|
Hypertension, Hypovolemic shock, Hypotension |
ORPHA:2912 |
Rhombencephalosynapsis |
|
Fusion of the cerebellar hemispheres, Septo-optic dysplasia, Agenesis of cerebellar vermis, Ataxi... |
ORPHA:59315 |
Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Pulmonary embolism, Intracranial hemorrhage, Hypertension, Cerebral ... |
ORPHA:394 |
Hallermann-Streiff Syndrome |
|
Hypertension, Small for gestational age, Pulmonary arterial hypertension, Telangiectasia |
OMIM:234100 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Lactic acidosis, Increased serum lactate |
OMIM:617186 |
22Q11.2 Deletion Syndrome |
|
Gastrointestinal hemorrhage, Hypoparathyroidism, Failure to thrive, Hyperthyroidism, Retinal arte... |
ORPHA:567 |
Panhypophysitis |
|
Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz... |
ORPHA:95513 |
Acute Transverse Myelitis |
|
Hypertension, Orthostatic hypotension, Decreased circulating copper concentration, Subarachnoid h... |
ORPHA:139417 |
Williams Syndrome |
|
Elevated circulating creatine kinase concentration, Myocardial infarction, Abnormal cerebral vasc... |
ORPHA:904 |
Alport Syndrome 2, Autosomal Recessive |
|
Hypertension |
OMIM:203780 |
Neuroendocrine Neoplasm Of Appendix |
|
Tricuspid stenosis, Heart murmur, Adrenocorticotropic hormone excess, Palpitations, Increased ser... |
ORPHA:100079 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Absent septum pellucidum, Dysplastic corpus callosum, Cryptorchidism, Colpocephaly, Chiari malfor... |
OMIM:618820 |
Vascular Ehlers-Danlos Syndrome |
|
Peripheral arteriovenous fistula, Telangiectasia of the skin, Transient ischemic attack, Arterial... |
ORPHA:286 |
Familial Osteodysplasia, Anderson Type |
|
Hypertension, Hyperuricemia |
ORPHA:2769 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Lactic acidosis, Cardiomyopathy |
OMIM:616084 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Lactic acidosis, Failure to thrive, Metabolic acidosis |
OMIM:256810 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Anterior pituitary hypoplasia, Microcephaly, Dysplastic corpus callosum, Cryptorchidism, Spina bi... |
OMIM:151050 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Hypertension, Hypothyroidism, Hypotension |
ORPHA:93256 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Hypertension |
ORPHA:1555 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating glutaric acid concentration, Acidosis |
OMIM:231680 |
Vici Syndrome |
|
Elevated circulating creatine kinase concentration, Acidosis, Congestive heart failure, Dilated c... |
OMIM:242840 |
Primary Progressive Freezing Gait |
|
Hypertension |
ORPHA:75567 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Prolonged QT interval, Aortic arch aneurysm, Failure to thrive in infancy, Myocardial infarction,... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Prolonged QT interval, Aortic arch aneurysm, Failure to thrive in infancy, Myocardial infarction,... |
ORPHA:99228 |
Monosomy X |
|
Prolonged QT interval, Aortic arch aneurysm, Failure to thrive in infancy, Myocardial infarction,... |
ORPHA:99226 |
Turner Syndrome |
|
Prolonged QT interval, Aortic arch aneurysm, Failure to thrive in infancy, Myocardial infarction,... |
ORPHA:881 |
Cockayne Syndrome |
|
Anhidrosis, Diabetes mellitus, Cachexia, Retinal hemorrhage, Absence of pubertal development, Hyp... |
ORPHA:191 |
Marshall-Smith Syndrome |
|
Patent ductus arteriosus, Premature ventricular contraction, Hypertension, Decreased body weight,... |
OMIM:602535 |
Smith-Lemli-Opitz Syndrome |
|
Precocious puberty, Patent ductus arteriosus, Coarctation of aorta, Hypertension, Hypoalbuminemia... |
OMIM:270400 |
17Q11 Microdeletion Syndrome |
|
Telangiectasia of the skin, Abnormal internal carotid artery morphology, Precocious puberty, Reno... |
ORPHA:97685 |
Au-Kline Syndrome |
|
Hypertension, Aortic root aneurysm, Failure to thrive |
OMIM:616580 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia |
ORPHA:289176 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Abnormal thalamus morphology, Small for gestational age, Paresthesia, Microcephaly |
ORPHA:2959 |
Williams-Beuren Syndrome |
|
Diabetes mellitus, Failure to thrive in infancy, Hypercalcemia, Portal hypertension, Retinal arte... |
OMIM:194050 |
Nephronophthisis 1 |
|
Hypertension |
OMIM:256100 |
Dent Disease |
|
Renal hypophosphatemia, Elevated circulating creatine kinase concentration |
ORPHA:1652 |
Hurler Syndrome |
|
Cardiomyopathy, Hypertension, Angina pectoris |
ORPHA:93473 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Dysplastic corpus callosum |
ORPHA:363444 |
Sickle Cell Disease |
|
Hypertension, Stroke |
OMIM:603903 |
Alport Syndrome 1, X-Linked |
|
Hypoparathyroidism, Hypertension |
OMIM:301050 |
Carney Complex |
|
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Elevated circulating growth hormone ... |
ORPHA:1359 |
Acute Liver Failure |
|
Shock, Gastrointestinal hemorrhage, Hyperammonemia, Alkalosis, Intracranial hemorrhage, Adrenal i... |
ORPHA:90062 |
Cockayne Syndrome A |
|
Anhidrosis, Hypertension, Thymic hormone decreased, Hypogonadism, Arrhythmia, Failure to thrive, ... |
OMIM:216400 |
Myhre Syndrome |
|
Small for gestational age, Patent ductus arteriosus, Obesity, Coarctation of aorta, Hypertension,... |
OMIM:139210 |
Familial Acute Necrotizing Encephalopathy |
|
Abnormal putamen morphology, Abnormal thalamus morphology, Cerebral edema |
ORPHA:88619 |
Apert Syndrome |
|
Hypertension |
ORPHA:87 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hematemesis, Hypertension, Portal hypertension |
OMIM:263200 |
Nephronophthisis-Like Nephropathy 1 |
|
Hypertension, Chronic pancreatitis |
OMIM:613159 |
Orofaciodigital Syndrome I |
|
Abnormal cortical gyration, Microcephaly, Myelomeningocele, Porencephalic cyst, Cerebral atrophy,... |
OMIM:311200 |
Microphthalmia, Syndromic 3 |
|
Anterior pituitary hypoplasia, Microcephaly, Cryptorchidism, Hypoplasia of the corpus callosum, H... |
OMIM:206900 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Secondary microcephaly, Cerebellar hypopl... |
OMIM:619306 |
Cockayne Syndrome B |
|
Anhidrosis, Small for gestational age, Hypertension, Severe failure to thrive, Arrhythmia, Failur... |
OMIM:133540 |
Tuberous Sclerosis Complex |
|
Pancreatic endocrine tumor, Pituitary adenoma, Parathyroid hyperplasia, Hypertension, Pulmonary l... |
ORPHA:805 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Gastrointestinal hemorrhage, Portal hypertension, Hypertension, Increased serum bil... |
ORPHA:731 |
X-Linked Hypophosphatemia |
|
Hypophosphatemia |
ORPHA:89936 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response, Abnormal thalamic MRI signal intensity, Cerebral cortical atrophy |
ORPHA:309155 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Hypertension |
OMIM:123790 |
Fanconi Anemia, Complementation Group E |
|
Prolonged G2 phase of cell cycle |
OMIM:600901 |
White-Kernohan Syndrome |
|
Dysplastic corpus callosum, Obesity, Attention deficit hyperactivity disorder |
OMIM:619426 |
Norrie Disease |
|
Cachexia, Microcephaly, Abnormality of the diencephalon, Cryptorchidism, EEG abnormality, Irritab... |
ORPHA:649 |
Meningioma |
|
Enlarged pituitary gland, Hypothalamic hypothyroidism, Ataxia, Neoplasm of the anterior pituitary... |
ORPHA:2495 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Peripheral arterial stenosis, Heart murmur, Cardiomyopathy, Hypertension, Abnormal aortic morphol... |
ORPHA:217085 |
Adenohypophysitis |
|
Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz... |
ORPHA:95512 |
Hunter-Macdonald Syndrome |
|
Aortic regurgitation, Hypertension, Mitral regurgitation, Patent ductus arteriosus |
OMIM:611962 |
Fanconi Anemia, Complementation Group A |
|
Prolonged G2 phase of cell cycle |
OMIM:227650 |
Somatomammotropinoma |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentrati... |
ORPHA:314769 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Peripheral arterial stenosis, Heart murmur, Cardiomyopathy, Hypertension, Abnormal aortic morphol... |
ORPHA:217093 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Aplasia/Hypoplasia of the cerebellum, Abnormality of the diencephalon, Ataxia |
ORPHA:2720 |
Cranioectodermal Dysplasia 2 |
|
Hypertension, Patent ductus arteriosus, Hyperbilirubinemia |
OMIM:613610 |
Posterior Urethral Valve |
|
Hypertension |
ORPHA:93110 |
Acromegaly |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentrati... |
ORPHA:963 |
Mucopolysaccharidosis Type 2 |
|
Peripheral arterial stenosis, Cardiomyopathy, Hypertension, Abnormal aortic morphology, Arrhythmia |
ORPHA:580 |
Pierson Syndrome |
|
Hypertension, Hypoproteinemia, Retinal hemorrhage |
OMIM:609049 |
Fanconi Anemia, Complementation Group C |
|
Prolonged G2 phase of cell cycle |
OMIM:227645 |
Zttk Syndrome |
|
Dysplastic corpus callosum, Abnormal cerebral white matter morphology, Cerebellar hypoplasia, Hyp... |
OMIM:617140 |
Adams-Oliver Syndrome 1 |
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Pulmonary artery stenosis, Hypertension, Pulmonic stenosis, Pulmonary arterial hypertension, Aort... |
OMIM:100300 |
Myhre Syndrome |
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Precocious puberty, Hypertension, Hypogonadism |
ORPHA:2588 |
Carey-Fineman-Ziter Syndrome |
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Hypertensive crisis |
ORPHA:1358 |
Von Hippel-Lindau Syndrome |
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Hypertension, Pheochromocytoma, Paraganglioma |
OMIM:193300 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
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Tetralogy of Fallot, Coarctation of aorta, Hypertension, Hyperbilirubinemia, Failure to thrive |
OMIM:210710 |
Blau Syndrome |
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Pericarditis, Xerostomia, Large vessel vasculitis, Hypertension, Pulmonary arterial hypertension,... |
ORPHA:90340 |
Orofaciodigital Syndrome Type 1 |
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Hypertension, Vascular dilatation, Exocrine pancreatic insufficiency |
ORPHA:2750 |
Renal Agenesis |
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Hypertension |
ORPHA:411709 |
Neurofibromatosis, Type I |
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Parathyroid adenoma, Hypertension, Pheochromocytoma, Renal artery stenosis |
OMIM:162200 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
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Hypertension, Failure to thrive |
OMIM:266920 |
Scalp-Ear-Nipple Syndrome |
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Supraventricular tachycardia, Hypertension, Congestive heart failure, Hypohidrosis |
OMIM:181270 |
Yunis-Varon Syndrome |
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Renovascular hypertension, Hypertension, Cardiomyopathy, Renal artery stenosis, Severe failure to... |
ORPHA:3472 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Failure to thrive in infancy, Dysplastic corpus callosum, Simplified gyral pattern, Dysphagia, Ab... |
ORPHA:500150 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
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Abnormality of the diencephalon, Microcephaly |
ORPHA:2165 |
Scalp-Ear-Nipple Syndrome |
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Type I diabetes mellitus, Hypertension, Hypohidrosis |
ORPHA:2036 |
Hydranencephaly |
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Dysgenesis of the thalamus, Thalamic edema, Opisthotonus, Primary microcephaly, Intrauterine grow... |
ORPHA:2177 |
Fanconi Anemia, Complementation Group D2 |
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Prolonged G2 phase of cell cycle |
OMIM:227646 |
Witteveen-Kolk Syndrome |
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Branchial fistula, Hyperactivity, Small for gestational age, Unilateral cryptorchidism, Decreased... |
OMIM:613406 |
Holoprosencephaly 7 |
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Microcephaly, Partial agenesis of the corpus callosum, Panhypopituitarism, Fusion of the left and... |
OMIM:610828 |
Neurofibromatosis Type 1 |
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Abnormality of the endocrine system, Precocious puberty, Arterial stenosis, Hypertension, Pheochr... |
ORPHA:636 |
Congenital Disorder Of Glycosylation, Type Iim |
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Hypertension, Neonatal hyperbilirubinemia |
OMIM:300896 |
Pallister-Hall Syndrome |
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Abnormal basal ganglia MRI signal intensity, Decreased testicular size, Large for gestational age... |
ORPHA:672 |
Denys-Drash Syndrome |
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Hypertension |
OMIM:194080 |
Pallister-Hall Syndrome |
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Decreased response to growth hormone stimulation test, Cryptorchidism, Hypothalamic hamartoma, In... |
OMIM:146510 |
Blau Syndrome |
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Hypertension, Pericarditis |
OMIM:186580 |
Keutel Syndrome |
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Hypertension, Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis, Pulmonic stenosis |
OMIM:245150 |
Bickerstaff Brainstem Encephalitis |
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Decreased motor nerve conduction velocity, Ataxia, Dysesthesia, Impaired proprioception, Abnormal... |
ORPHA:79138 |
Arima Syndrome |
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Hypertension |
OMIM:243910 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
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Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... |
ORPHA:91500 |
Acute Bilirubin Encephalopathy |
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Abnormal thalamic MRI signal intensity, Abnormal auditory evoked potentials |
ORPHA:529799 |
Chronic Bilirubin Encephalopathy |
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Abnormal thalamic MRI signal intensity, Abnormal auditory evoked potentials |
ORPHA:529808 |
Systemic Lupus Erythematosus |
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Raynaud phenomenon, Hypertension |
ORPHA:536 |
Renal Dysplasia |
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Hypertension |
ORPHA:93108 |
Alström Syndrome |
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Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... |
ORPHA:64 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
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Thalamic hemorrhage, Cerebral calcification, Abnormal basal ganglia morphology |
ORPHA:464321 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
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Hypertension, Corneal neovascularization, Hypohidrosis |
OMIM:308205 |