| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hyperleucinemia, Hyperammonemia, Polyphagia, Hypervalinemia, Increased blood urea nitrogen, Hyper... |
OMIM:620085 |
| Attention Deficit-Hyperactivity Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:143465 |
| Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting |
|
Gait ataxia, Hyperactivity, Dystonia, Dysphagia, Impulsivity |
OMIM:620448 |
| Hyperprolinemia, Type I |
|
Hyperglycinuria, Prolinuria, Hydroxyprolinuria, Hyperprolinemia, Aggressive behavior, Hyperactivi... |
OMIM:239500 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Renal Failure, Progressive, With Hypertension |
|
Elevated circulating creatinine concentration, Hypertension |
OMIM:161900 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hypertrophic cardiomyopathy, Limb dystonia, Tremor, Aggressive behavior, Hyperactivity, Ataxia |
OMIM:620270 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Bruxism, Aggressive behavior, Hyperactivity |
OMIM:615493 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Bruxism, Aggressive behavior, Hyperactivity |
ORPHA:356996 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Elevated circulating guanidinoacetic acid concentration, Tremor, Aggressive behavior, Ataxia, Dec... |
OMIM:612736 |
| Intellectual Developmental Disorder, X-Linked 111 |
|
Phonic tics, Aggressive behavior, Hyperactivity, Unsteady gait, Compulsive behaviors, Dystonia |
OMIM:301107 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hypertriglyceridemia, Tremor, Hyperactivity, Ataxia, Dystonia |
OMIM:615924 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:617872 |
| Lesch-Nyhan Phenotype With Normal Hgprt |
|
Self-mutilation, Choreoathetosis, Hyperuricemia |
OMIM:308950 |
| Smith-Magenis syndrome |
|
Motor stereotypy, Hyperactivity, Self-mutilation |
DECIPHER:8 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... |
OMIM:309548 |
| Hartnup Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity, Neutral hyperaminoaciduria, Episodic ataxia |
OMIM:234500 |
| Fraxe Intellectual Disability |
|
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... |
ORPHA:100973 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Gait ataxia, Dysmetria, Tremor, Gait disturbance, Hyperactivity |
OMIM:618090 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Broad-based gait, Tremor, Aggressive behavior, Hyperactivity, Motor stereotypy |
OMIM:619470 |
| Glycine Encephalopathy 1 |
|
Hyperglycinuria, Hyperglycinemia, Aggressive behavior, Hyperactivity, Restlessness, Impulsivity |
OMIM:605899 |
| Interstitial Nephritis, Karyomegalic |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:614817 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased serum creatinine, Tremor, Hypohomocysteinemia, Hypocystinemia |
OMIM:617744 |
| Developmental And Epileptic Encephalopathy 43 |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity, Ataxia |
OMIM:617113 |
| Nephronophthisis-Like Nephropathy 2 |
|
Elevated circulating creatinine concentration, Polydipsia |
OMIM:619468 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Broad-based gait, Shuffling gait, Resting tremor, Abnormal fear-induced behavior, Congestive hear... |
ORPHA:3077 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Elevated systolic blood pressure, Decreased circulating renin level, Hyponatremia, Reduced blood ... |
OMIM:300539 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Hypertension, Increased blood urea nitrogen |
OMIM:612924 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Elevated circulating creatinine concentration, Hypertension, Increased blood urea nitrogen |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Elevated circulating creatinine concentration, Hypertension, Increased blood urea nitrogen |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Elevated circulating creatinine concentration, Hypertension, Increased blood urea nitrogen |
OMIM:612926 |
| Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine, Abnormal cardiovascular system physiology, Arterial occlusion |
ORPHA:289601 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia, Dystonia, Athetosis |
ORPHA:382 |
| Ichthyosis, Impaired Intellectual Development, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration |
OMIM:242530 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity |
OMIM:619031 |
| Drug-Induced Lupus Erythematosus |
|
Elevated circulating creatine kinase concentration, Increased blood urea nitrogen, Elevated circu... |
ORPHA:231111 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Hypertension, Increased blood urea nitrogen |
OMIM:612925 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Elevated circulating creatinine concentration, Transient ischemic attack, Tremor, Increased blood... |
OMIM:274150 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Self-injurious behavior, Inability to walk, Bruxism, Tremor, Motor stereotypy, Hyperactivity, Par... |
OMIM:618718 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Elevated circulating creatinine concentration, Hypertension |
ORPHA:567544 |
| Hyperlysinemia, Type I |
|
Hypoornithinemia, Hyperlysinuria, Dysdiadochokinesis, Hyperlysinemia, Cystinuria, Hyperactivity, ... |
OMIM:238700 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity |
OMIM:301008 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Self-injurious behavior, Elevated circulating gamma-aminobutyric acid concentration, Increased le... |
OMIM:271980 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hypomagnesemia, Hyperuricemia, Hyponatremia, Pulmonary arterial hypertension, Increased blood ure... |
OMIM:613845 |
| Aapoaiv Amyloidosis |
|
Atrial flutter, Hypertrophic cardiomyopathy, Elevated circulating creatinine concentration, Hyper... |
ORPHA:439232 |
| Phenylketonuria |
|
Elevated urinary gamma-glutamylphenylalanine level, Self-mutilation, Maternal hyperphenylalaninem... |
OMIM:261600 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Elevated circulating creatinine concentration, Hypertension |
OMIM:616733 |
| Coach Syndrome 2 |
|
Elevated circulating creatinine concentration, Hypertension |
OMIM:619111 |
| Orthostatic Hypotension 1 |
|
Hypomagnesemia, Orthostatic hypotension, Increased blood urea nitrogen, Elevated circulating dihy... |
OMIM:223360 |
| Juvenile Huntington Disease |
|
Broad-based gait, Gait ataxia, Hyperactivity, Ataxia, Dystonia, Progressive cerebellar ataxia |
ORPHA:248111 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:617056 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Inability to walk, Gait ataxia, Aggressive behavior, Hyperactivity, Dystonia, Dysphagia, Impulsivity |
ORPHA:500180 |
| Thrombotic Thrombocytopenic Purpura |
|
Decreased serum creatinine, Arrhythmia, Myocardial infarction |
ORPHA:54057 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Orthostatic syncope, Abnormal EKG, Elevated circulating creatinine concentration, Syncope, Increa... |
ORPHA:230 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Oculogyric crisis, Abnormal circulating biopterin concentration, Abnormal circulating neopterin c... |
OMIM:612716 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hypertension, Elevated circulating creatinine concentration, Hyperlipidemia, Increased blood urea... |
OMIM:235400 |
| Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities |
|
Facial telangiectasia, Gait ataxia, Self-mutilation, Hyperactivity, Paroxysmal bursts of laughter... |
OMIM:620445 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Attention deficit hyperactivity disorder, Hyperactivity, Bradycardia |
OMIM:617182 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Hypertension, Polyphagia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:251004 |
| Cardiogenic Shock |
|
Hypotension, Right ventricular failure, Abnormal left ventricular function, Congestive heart fail... |
ORPHA:97292 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Recurrent hand flapping, Self-mutilation, Aggressive behavior, Hyperactivity, Unsteady gait |
OMIM:615516 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Orthostatic hypoten... |
OMIM:223900 |
| Cryoglobulinemia, Familial Mixed |
|
Elevated circulating creatinine concentration, Hypertension |
OMIM:123550 |
| C3 Glomerulopathy |
|
Elevated circulating creatinine concentration, Hypertension |
ORPHA:329918 |
| Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
| Cockayne Syndrome Type 1 |
|
Difficulty walking, Tremor, Gait disturbance, Increased blood urea nitrogen, Ataxia, Hypertension |
ORPHA:90321 |
| Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration |
OMIM:219750 |
| Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Elevated circulating creatinine concentration, Dystonia, Hyperuricemia |
ORPHA:79233 |
| Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Self-injurious behavior, Inability to walk, Aggressive behavior, Hyperactivity, Choreoathetosis |
OMIM:620023 |
| Nephronophthisis 2 |
|
Elevated circulating creatinine concentration, Hyperkalemia, Hypertension, Pulmonary insufficiency |
OMIM:602088 |
| Histidinemia |
|
Histidinuria, Hyperactivity, Hyperhistidinemia |
ORPHA:2157 |
| Renal Tubular Acidosis, Proximal |
|
Elevated circulating creatinine concentration |
OMIM:179830 |
| Preeclampsia |
|
Elevated diastolic blood pressure, Elevated circulating creatinine concentration, Elevated systol... |
ORPHA:275555 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hypotension, Elevated circulating creatinine concentration, Reduced left ventricular ejection fra... |
ORPHA:542323 |
| Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Elevated circulating creatinine concentration |
OMIM:615605 |
| Uremic Pruritus |
|
Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
| Relapsing Fever |
|
Epistaxis, Hypotension, Increased total bilirubin, Elevated circulating creatinine concentration,... |
ORPHA:91547 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Ataxia, Limb dystonia, Gait ataxia, Tremor, Hyperactivity, Hypertriglyceridemia, Hypertension |
ORPHA:363400 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Elevated circulating creatinine concentration |
OMIM:614723 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Budd-Chiari syndrome, Elevated circulating creatinine concentration, Large vessel vasculitis, Inc... |
ORPHA:49041 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
| Hereditary Renal Hypouricemia |
|
Hypouricemia, Increased blood urea nitrogen |
ORPHA:94088 |
| 46,Xy Sex Reversal 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:154230 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:620366 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Frequent temper tantrums, Facial telangiectasia, Impulsivity, Attention deficit hyperactivity dis... |
OMIM:620141 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hypokalemia, Elevated circulating creatinine concentration, Hypertension, Elevated circulating al... |
OMIM:613095 |
| X-Linked Creatine Transporter Deficiency |
|
Ataxia, Self-mutilation, Hyperactivity, Abnormal circulating creatine concentration, Dystonia, At... |
ORPHA:52503 |
| Hypouricemia, Renal, 1 |
|
Hypouricemia, Elevated circulating creatinine concentration |
OMIM:220150 |
| Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration |
OMIM:620138 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Hypoalbuminemia, Elevated circulating creatinine concentration |
OMIM:608104 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Dilated cardiomyopathy, Increased total bilirubin, Elevated circulating creatinine concentration,... |
OMIM:608836 |
| Diffuse Alveolar Hemorrhage |
|
Elevated circulating creatinine concentration, Pulmonary venous hypertension |
ORPHA:90060 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Cardiomyopathy, Elevated circulating creatinine concentration, Punct... |
ORPHA:247691 |
| Citrullinemia Type Ii |
|
Hypoalbuminemia, Decreased HDL cholesterol concentration, Abnormal eating behavior, Hyperlipidemi... |
ORPHA:247585 |
| Acute Interstitial Pneumonia |
|
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... |
ORPHA:79126 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Elevated circulating creatinine concentration |
OMIM:614376 |
| Senior-Loken Syndrome 1 |
|
Elevated circulating creatinine concentration, Polydipsia |
OMIM:266900 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Broad-based gait, Inappropriate laughter, Abnormal eating behavior, Recurrent hand flapping, Gait... |
ORPHA:98794 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Elevated circulating creatinine concentration, Hypotension, Hypertension, Hyperuricemia |
OMIM:174000 |
| Juvenile Nephropathic Cystinosis |
|
Hypouricemia, Aminoaciduria, Polydipsia, Elevated circulating creatinine concentration, Hypocalce... |
ORPHA:411634 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Gastrointestinal hemorrhage, Congestive heart failure, Elevated circulating creatinine concentrat... |
ORPHA:85450 |
| Bacterial Toxic-Shock Syndrome |
|
Hypoalbuminemia, Hypotension, Shock, Elevated circulating creatinine concentration, Hypocalcemia,... |
ORPHA:36234 |
| Argininemia |
|
Hyperammonemia, Hyperargininemia, Hyperactivity, Anorexia, Spastic gait, Diaminoaciduria |
OMIM:207800 |
| Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased serum creatinine, Hypotriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:618885 |
| Hyperlysinemia |
|
Hypoornithinemia, Hyperlysinuria, Tip-toe gait, Hyperammonemia, Tremor, Dysmetria, Opisthotonus, ... |
ORPHA:2203 |
| Hemorrhagic Fever-Renal Syndrome |
|
Epistaxis, Hypotension, Hyperphosphatemia, Subconjunctival hemorrhage, Shock, Elevated circulatin... |
ORPHA:340 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hypokalemia, Hyperactivity, Self-biting, Hypomagnesemia |
OMIM:618314 |
| Oligomeganephronia |
|
Elevated circulating creatinine concentration, Polydipsia, Hypertension |
ORPHA:2260 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Decreased circulating iron concentration, Pulmonary embolism, Budd-Chiari syndrome, Reduced hapto... |
ORPHA:447 |
| Marburg Hemorrhagic Fever |
|
Hypoalbuminemia, Hypotension, Subconjunctival hemorrhage, Shock, Elevated circulating creatinine ... |
ORPHA:99826 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Elevated circulating creatinine concentration, Hypokalemia, Hyponatremia, Unconjugated hyperbilir... |
ORPHA:90038 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Dysdiadochokinesis, Gait ataxia, Dysmetria, Hyperactivity, Dystonia, Dysphagia, Intention tremor,... |
OMIM:610217 |
| Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature |
|
Elevated circulating creatinine concentration, Reduced haptoglobin level |
OMIM:301110 |
| Papillorenal Syndrome |
|
Elevated circulating creatinine concentration, Hypertension |
OMIM:120330 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Elevated circulating creatinine concentration, Hypertension |
ORPHA:730 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Elevated circulating creatinine concentration, Systolic heart murmur |
OMIM:617478 |
| Sickle Cell Anemia |
|
Unconjugated hyperbilirubinemia, Pulmonary arterial hypertension, Elevated circulating creatinine... |
ORPHA:232 |
| Hypomagnesemia 3, Renal |
|
Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphatemia, Polydipsia, H... |
OMIM:248250 |
| Multiple Myeloma |
|
Elevated circulating creatinine concentration, Hyperproteinemia, Hypercalcemia |
ORPHA:29073 |
| Choreoacanthocytosis |
|
Resting tremor, Limb dystonia, Hair-pulling, Loss of ambulation, Lingual dystonia, Dysphagia, Soc... |
ORPHA:2388 |
| Pauci-Immune Glomerulonephritis |
|
Elevated circulating creatinine concentration, Pulmonary hemorrhage, Arteritis, Small vessel vasc... |
ORPHA:93126 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Blepharospasm, Phonic tics, Akinesia, Obsessive-compulsive trait, Tremor, Motor tics, Gait distur... |
OMIM:234200 |
| Yellow Fever |
|
Shock, Elevated circulating creatinine concentration, Reduced left ventricular ejection fraction,... |
ORPHA:99829 |
| Familial Gestational Hyperthyroidism |
|
Agitation, Hyperactivity, Hand tremor |
ORPHA:99819 |
| Igg4-Related Kidney Disease |
|
Arteritis, Decreased retinol-binding protein level, Elevated circulating creatinine concentration... |
ORPHA:449395 |
| Renal Cysts And Diabetes Syndrome |
|
Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:137920 |
| Goodpasture Syndrome |
|
Pulmonary hemorrhage, Increased blood urea nitrogen |
OMIM:233450 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Aminoaciduria, Elevated circulating creatinine concentration, Vitreous hemorrhage, Anorexia, Elev... |
ORPHA:91500 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hypoalbuminemia, Aortic regurgitation, Bidirectional shunt, Increased circulating ferritin concen... |
OMIM:619534 |
