Spinocerebellar Ataxia Type 27 |
|
Akinesia, Aggressive behavior, Limb ataxia, Gait ataxia, Gait disturbance, Difficulty walking, Tr... |
ORPHA:98764 |
Type 1 Diabetes Mellitus |
|
Polydipsia, Diabetes mellitus, Polyphagia |
OMIM:222100 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Unsteady gait, Neuromuscular dysphagia, Falls, Gait imbalance, Loss o... |
ORPHA:240094 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Decreased circulating aldosterone level, Increased circulating 18-hydroxycortisone level, Increas... |
OMIM:610600 |
Renal Glucosuria |
|
Polydipsia, Polyphagia |
OMIM:233100 |
Acquired Central Diabetes Insipidus |
|
Polydipsia, Diabetes insipidus |
ORPHA:95626 |
Hereditary Central Diabetes Insipidus |
|
Polydipsia, Diabetes insipidus |
ORPHA:30925 |
Huntington Disease |
|
Oral-pharyngeal dysphagia, Aggressive behavior, Inability to walk, Gait disturbance, Gait imbalan... |
ORPHA:399 |
Late-Onset Familial Hypoaldosteronism |
|
Elevated serum 11-deoxycortisol, Decreased circulating aldosterone level, Increased circulating r... |
ORPHA:556037 |
Spinocerebellar Ataxia 21 |
|
Ataxia, Akinesia, Aggressive behavior, Impulsivity, Limb ataxia, Gait ataxia, Progressive cerebel... |
OMIM:607454 |
Early-Onset Familial Hypoaldosteronism |
|
Elevated serum 11-deoxycortisol, Decreased circulating aldosterone level, Increased circulating r... |
ORPHA:556030 |
Manganese Poisoning |
|
Akinesia, Aggressive behavior, Hypersexuality, Gait disturbance, Inappropriate laughter, Compulsi... |
ORPHA:306682 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased serum testosterone concentration, Decreased circulating cortisol level, Precocious pube... |
ORPHA:90793 |
Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... |
ORPHA:33543 |
Central Diabetes Insipidus |
|
Polydipsia, Diabetes insipidus, Anorexia |
ORPHA:178029 |
East Syndrome |
|
Salt craving, Ataxia, Inability to walk, Hyperaldosteronism, Increased circulating renin level, D... |
ORPHA:199343 |
Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Hyperactivity, Ataxia, Abnormal eat... |
ORPHA:209905 |
Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Abnormal circulating renin, Dexamethasone-suppressible primary hyperaldoster... |
ORPHA:403 |
Perry Syndrome |
|
Inappropriate behavior, Disinhibition, Short stepped shuffling gait, Akinesia |
OMIM:168605 |
Hyperaldosteronism, Familial, Type Iii |
|
Polydipsia, Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level |
OMIM:613677 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... |
OMIM:610489 |
Atypical Juvenile Parkinsonism |
|
Akinesia, Inability to walk, Gait ataxia, Shuffling gait, Short stepped shuffling gait |
ORPHA:391411 |
Spinocerebellar Ataxia Type 21 |
|
Progressive cerebellar ataxia, Akinesia, Gait ataxia |
ORPHA:98773 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Akinesia, Aggressive behavior |
OMIM:300894 |
Kufor-Rakeb Syndrome |
|
Ataxia, Akinesia, Aggressive behavior, Gait disturbance, Dysphagia |
OMIM:606693 |
Secondary Non-Traumatic Avascular Necrosis |
|
Addictive alcohol use, Difficulty walking |
ORPHA:399180 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... |
OMIM:610475 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Impulsivity, Akinesia, Neuromuscular dysphagia, Falls, Gait imbalance |
ORPHA:240071 |
Senior-Loken Syndrome 4 |
|
Polydipsia |
OMIM:606996 |
Parkinson Disease 17 |
|
Akinesia |
OMIM:614203 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Ataxia, Akinesia, Gait ataxia, Dysdiadochokinesis, Shuffling gait, Dysphagia |
ORPHA:247234 |
Familial Hyperaldosteronism Type Iii |
|
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:251274 |
Methanol Poisoning |
|
Type I diabetes mellitus, Hyperlipidemia, Addictive alcohol use, Type II diabetes mellitus |
ORPHA:31825 |
Apparent Mineralocorticoid Excess |
|
Polydipsia, Decreased circulating aldosterone level, Abnormality of circulating cortisol level, D... |
ORPHA:320 |
Cystinosis |
|
Nephrogenic diabetes insipidus, Abnormal repetitive mannerisms, Gait disturbance, Delayed puberty... |
ORPHA:213 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
Panhypophysitis |
|
Decreased circulating cortisol level, Polydipsia, Reduced circulating prolactin concentration, Ad... |
ORPHA:95513 |
Marchiafava-Bignami Disease |
|
Ataxia, Aggressive behavior, Gait ataxia, Addictive alcohol use, Gait disturbance |
ORPHA:221074 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Adrenal hyperplasia, Abnormal circulating renin, Athetosis, Hyperaldosteronism, Dexamethasone-sup... |
ORPHA:369929 |
Nephronophthisis-Like Nephropathy 2 |
|
Polydipsia |
OMIM:619468 |
Primary Unilateral Adrenal Hyperplasia |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Polydipsia, Adrenal hyperplasia, Decreased... |
ORPHA:231580 |
Congenital Myopathy 9A |
|
Akinesia |
OMIM:618822 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Freezing of gait, Akinesia |
OMIM:619911 |
Hereditary Late-Onset Parkinson Disease |
|
Impulsivity, Akinesia, Agitation, Shuffling gait, Dysphagia |
ORPHA:411602 |
Pediatric-Onset Graves Disease |
|
Hyperactivity, Puberty and gonadal disorders, Thyrotoxicosis with diffuse goiter, Increased circu... |
ORPHA:525731 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Salt craving, Ataxia, Dysdiadochokinesis, Hyperaldosteronism, Increased circulating renin level, ... |
OMIM:612780 |
Corticobasal Syndrome |
|
Gait disturbance, Akinesia |
ORPHA:454887 |
Bardet-Biedl Syndrome 9 |
|
Polydipsia, Polyphagia |
OMIM:615986 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Absence of second... |
ORPHA:90796 |
Familial Cold Urticaria |
|
Polydipsia |
ORPHA:47045 |
Postencephalitic Parkinsonism |
|
Akinesia, Dysphagia |
ORPHA:97349 |
Arthrogryposis Multiplex Congenita 6 |
|
Akinesia |
OMIM:619334 |
Teratoma, Pineal |
|
Polydipsia |
OMIM:273120 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Abnormal circulating pregnenolone concentration, Abnormal response to human chorionic gonadotroph... |
ORPHA:95699 |
Lethal Congenital Contracture Syndrome 2 |
|
Akinesia |
OMIM:607598 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Polydipsia, Diabetes insipidus |
OMIM:304800 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Nephrogenic diabetes insipidus, Polydipsia |
OMIM:125800 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Hyperactivity, Ataxia, Akinesia, Phonic tics, Choreoathetosis, Gait disturbance, Dysphagia, Obses... |
OMIM:234200 |
Ochoa Syndrome |
|
Polydipsia |
ORPHA:2704 |
Aceruloplasminemia |
|
Diabetes mellitus, Ataxia, Akinesia, Limb ataxia, Gait ataxia |
ORPHA:48818 |
Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Polydipsia, Neoplasm of the anterior pituitary, Hypogonadism, Hyperpitu... |
ORPHA:91351 |
Isolated Osteopoikilosis |
|
Abnormality of the endocrine system, Addictive alcohol use |
ORPHA:166119 |
Staphylococcal Necrotizing Pneumonia |
|
Diabetes mellitus, Addictive alcohol use, Increased circulating procalcitonin concentration |
ORPHA:36238 |
Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Choreoathetosis, Akinesia, Truncal ataxia |
OMIM:618249 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Hypothyroidism, Akinesia |
OMIM:619147 |
Septo-Optic Dysplasia Spectrum |
|
Anterior pituitary hypoplasia, Maternal diabetes, Polydipsia, Abnormality of the hypothalamus-pit... |
ORPHA:3157 |
Nephrogenic Diabetes Insipidus |
|
Nephrogenic diabetes insipidus, Polydipsia, Anorexia |
ORPHA:223 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypercholesterolemia, Hypopituitarism, Hypothyroidism, Addictive alcohol use |
ORPHA:90065 |
Bardet-Biedl Syndrome 17 |
|
Polydipsia, Hypogonadism |
OMIM:615994 |
Hyperparathyroidism, Neonatal Severe |
|
Primary hyperparathyroidism, Elevated circulating parathyroid hormone level, Polydipsia |
OMIM:239200 |
Congenital Myopathy 12 |
|
Akinesia |
OMIM:612540 |
Supranuclear Palsy, Progressive, 2 |
|
Falls, Gait imbalance, Akinesia, Dysphagia |
OMIM:609454 |
Fetal Akinesia Deformation Sequence |
|
Akinesia |
ORPHA:994 |
Gaucher Disease, Perinatal Lethal |
|
Akinesia, Dysphagia |
OMIM:608013 |
Whipple Disease |
|
Hypothyroidism, Polydipsia, Ataxia, Anorexia |
ORPHA:3452 |
Multiple Pterygium Syndrome, Lethal Type |
|
Akinesia |
OMIM:253290 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... |
ORPHA:189427 |
Nephronophthisis 4 |
|
Polydipsia |
OMIM:606966 |
Acute Lung Injury |
|
Addictive alcohol use |
ORPHA:178320 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Akinesia |
OMIM:225790 |
Gitelman Syndrome |
|
Salt craving, Ataxia, Increased circulating renin level, Delayed puberty, Polydipsia |
OMIM:263800 |
Wolfram Syndrome |
|
Diabetes mellitus, Ataxia, Hypogonadism, Delayed puberty, Male hypogonadism, Polydipsia, Diabetes... |
ORPHA:3463 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Akinesia |
OMIM:616840 |
Senior-Loken Syndrome 3 |
|
Polydipsia |
OMIM:606995 |
Rabson-Mendenhall Syndrome |
|
Increased pineal volume, Precocious puberty, Insulin-resistant diabetes mellitus, Fasting hyperin... |
ORPHA:769 |
Supranuclear Palsy, Progressive, 1 |
|
Falls, Gait imbalance, Akinesia, Dysphagia |
OMIM:601104 |
Herpes Simplex Virus Encephalitis |
|
Addictive alcohol use |
ORPHA:1930 |
Nephronophthisis 3 |
|
Polydipsia |
OMIM:604387 |
Helix Syndrome |
|
Hyperparathyroidism, Polydipsia |
OMIM:617671 |
Nephronophthisis 1 |
|
Polydipsia |
OMIM:256100 |
Acute Promyelocytic Leukemia |
|
Addictive alcohol use, Anorexia |
ORPHA:520 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Primary hyperparathyroidism, Abnormal parathyroid morphology, Elevated circulating parathyroid ho... |
ORPHA:99880 |
Dpagt1-Cdg |
|
Ataxia, Akinesia, Aggressive behavior, Inability to walk, Head-banging, Stereotypical body rocking |
ORPHA:86309 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Decreased response to growth hormone stimulation test, Central diabetes insipidus, Aggressive beh... |
ORPHA:293987 |
Parathyroid Carcinoma |
|
Primary hyperparathyroidism, Abnormal parathyroid morphology, Elevated circulating parathyroid ho... |
ORPHA:143 |
Erdheim-Chester Disease |
|
Ataxia, Hypogonadotropic hypogonadism, Xanthelasma, Polydipsia, Diabetes insipidus |
ORPHA:35687 |
Hypomagnesemia 3, Renal |
|
Polydipsia, Elevated circulating parathyroid hormone level |
OMIM:248250 |
African Trypanosomiasis |
|
Akinesia, Aggressive behavior, Abnormality of the endocrine system, Abnormality of renin-angioten... |
ORPHA:3385 |
Nephronophthisis 11 |
|
Polydipsia |
OMIM:613550 |
Porphyria Cutanea Tarda |
|
Diabetes mellitus, Addictive alcohol use |
ORPHA:101330 |
Senior-Loken Syndrome 1 |
|
Polydipsia |
OMIM:266900 |
Renal Hypoplasia |
|
Polydipsia |
ORPHA:93101 |
Senior-Boichis Syndrome |
|
Polydipsia, Agitation, Attention deficit hyperactivity disorder, Aggressive behavior |
ORPHA:84081 |
Arthrogryposis Multiplex Congenita 5 |
|
Akinesia |
OMIM:618947 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Abnormality of endocrine pancreas physiology, Polydipsia, Diabetes mellitus, Hypothyroidism |
ORPHA:93111 |
Gitelman Syndrome |
|
Salt craving, Maternal diabetes, Diabetic ketoacidosis, Type I diabetes mellitus, Type II diabete... |
ORPHA:358 |
Cirrhotic Cardiomyopathy |
|
Addictive alcohol use |
ORPHA:57777 |
Ethylene Glycol Poisoning |
|
Addictive alcohol use, Ataxia |
ORPHA:31826 |
Infantile Nephropathic Cystinosis |
|
Polydipsia, Abnormality of thyroid physiology |
ORPHA:411629 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Polydipsia, Hyperaldosteronism |
OMIM:602522 |
Oligomeganephronia |
|
Polydipsia |
ORPHA:2260 |
Toxic Epidermal Necrolysis |
|
Polydipsia, Dysphagia |
ORPHA:537 |
Cystinosis, Nephropathic |
|
Diabetes mellitus, Oral-pharyngeal dysphagia, Dysphagia, Primary hypothyroidism, Delayed puberty,... |
OMIM:219800 |
Arima Syndrome |
|
Polydipsia, Ataxia |
OMIM:243910 |
Juvenile Nephropathic Cystinosis |
|
Polydipsia, Hypothyroidism |
ORPHA:411634 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... |
ORPHA:99889 |
Bartter Syndrome, Type 2, Antenatal |
|
Polydipsia, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased circulating renin... |
OMIM:241200 |
Distal Renal Tubular Acidosis |
|
Polydipsia |
ORPHA:18 |
Cushing Disease |
|
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... |
ORPHA:96253 |
Proximal Renal Tubular Acidosis |
|
Polydipsia |
ORPHA:47159 |
Autosomal Recessive Polycystic Kidney Disease |
|
Polydipsia |
ORPHA:731 |