Adrenal Hypoplasia, Cytomegalic Type |
|
Primary adrenal insufficiency, Congenital adrenal hypoplasia |
OMIM:202155 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated circulating creatine kinase concentration |
ORPHA:206599 |
Pentosuria |
|
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration |
ORPHA:2843 |
Hyperchlorhidrosis, Isolated |
|
Hyperkalemia, Hyponatremia |
OMIM:143860 |
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia |
ORPHA:3225 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Adrenal insufficiency, Hypothyroidism, Impaired growth-hormone response to insulin stimulation test |
OMIM:262700 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hyperkalemia |
OMIM:609153 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Decreased serum creatinine, Decreased circulating renin level |
OMIM:300539 |
Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Neonatal hyperbilirubinemia, Conjunctival icterus, Hypoalbuminemia, Abnormal conju... |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Hypernatremia, Neonatal hyperbilirubinemia, Conjunctival icterus, Hypoalbuminemia, Abnormal conju... |
ORPHA:529799 |
Hyperaldosteronism, Familial, Type Ii |
|
Hypokalemia |
OMIM:605635 |
Hyperkalemic Periodic Paralysis |
|
Hyperkalemia |
OMIM:170500 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
OMIM:610600 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
OMIM:203400 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:268200 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia |
OMIM:141000 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Glucose-Galactose Malabsorption |
|
Hypercalcemia, Hypernatremia |
ORPHA:35710 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyperkalemia, Hyponatremia |
OMIM:614736 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia |
OMIM:616949 |
Hypersecretion Of Adrenal Androgens, Familial |
|
Increased circulating androgen concentration, Adrenal overactivity, Premature pubarche |
OMIM:145295 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
Pseudohypoaldosteronism, Type Iia |
|
Hyperkalemia |
OMIM:145260 |
Isolated Anencephaly/Exencephaly |
|
Primary adrenal insufficiency |
ORPHA:1048 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Hypernatremia |
OMIM:125800 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Hypernatremia |
OMIM:304800 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia |
OMIM:300971 |
Hypoadrenocorticism, Familial |
|
Hyperkalemia, Hyponatremia |
OMIM:240200 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
Pseudohypoaldosteronism, Type Iib |
|
Hyperkalemia, Hyperchloremia |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hyperkalemia, Hyperchloremia |
OMIM:614495 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
OMIM:177735 |
Late-Onset Familial Hypoaldosteronism |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
ORPHA:556037 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Hypokalemia |
OMIM:170400 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
Liddle Syndrome 3 |
|
Hypokalemia |
OMIM:618126 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Hypokalemia |
OMIM:613345 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypernatremia |
OMIM:615508 |
Adrenocortical Hypofunction, Chronic Primary Congenital |
|
Adrenal insufficiency, Decreased circulating cortisol level |
OMIM:103230 |
Early-Onset Familial Hypoaldosteronism |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
ORPHA:556030 |
Neuroleptic Malignant Syndrome |
|
Hyperkalemia, Hyponatremia, Hypernatremia, Elevated circulating creatine kinase concentration, Hy... |
ORPHA:94093 |
Pseudohypoaldosteronism, Type Iic |
|
Hyperkalemia, Hyperchloremia |
OMIM:614492 |
Pseudohypoaldosteronism, Type Iie |
|
Hyperkalemia, Hyperchloremia |
OMIM:614496 |
Webb-Dattani Syndrome |
|
Hypernatremia |
OMIM:615926 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Adrenal insufficiency, Hypogonadism, Panhypopituitarism, Hypothyroidism, Reduced circulating prol... |
OMIM:262600 |
Pseudohypoaldosteronism Type 2 |
|
Hyperkalemia |
ORPHA:757 |
Liddle Syndrome 2 |
|
Hypokalemia, Decreased circulating renin level |
OMIM:618114 |
Pseudohypoaldosteronism, Type I, Autosomal Recessive |
|
Hyperkalemia, Hyponatremia |
OMIM:264350 |
Nephrogenic Diabetes Insipidus |
|
Hypernatremia |
ORPHA:223 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Adrenal insufficiency, Gonadotropin deficiency, Adrenal hypoplasia, Adrenocorticotropic hormone d... |
OMIM:609734 |
Pyruvate Carboxylase Deficiency |
|
Hypernatremia, Neonatal hyperbilirubinemia, Increased level of L-glutamic acid in blood, Hyperamm... |
ORPHA:3008 |
Autoimmune Polyendocrinopathy Type 2 |
|
Hypoparathyroidism, Primary adrenal insufficiency, Hypogonadism, Type I diabetes mellitus, Abnorm... |
ORPHA:3143 |
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnesium concentra... |
OMIM:241150 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hyponatremia |
OMIM:618426 |
Combined Oxidative Phosphorylation Deficiency 50 |
|
Adrenal insufficiency |
OMIM:619025 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Hypogonadism, Adrenal insufficiency, Delayed puberty, Central adrenal insufficiency |
OMIM:612079 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hyperkalemia, Cataract |
OMIM:608885 |
Hyperkalemic Periodic Paralysis |
|
Elevated circulating creatine kinase concentration, Hyponatremia, Hyperkalemia, Hypokalemia |
ORPHA:682 |
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Adrenal insufficiency, Adrenocorticotropic hormone excess, Hyperaldosteronism |
OMIM:613743 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia |
ORPHA:171876 |
Central Diabetes Insipidus |
|
Hyponatremia |
ORPHA:178029 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Hypochloremia, Hypokalemia |
OMIM:214700 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Hyperkalemia, Elevated creatine kinase after exercise |
ORPHA:57 |
Adrenal Hypoplasia, Congenital |
|
Decreased circulating aldosterone level, Adrenal insufficiency, Hypogonadotropic hypogonadism, Ab... |
OMIM:300200 |
Familial Pseudohyperkalemia |
|
Hyperkalemia |
ORPHA:90044 |
Familial Hypoaldosteronism |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
ORPHA:427 |
Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia |
ORPHA:163921 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia |
ORPHA:199296 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hypomagnesemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia |
OMIM:601198 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol... |
OMIM:267700 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia |
ORPHA:91354 |
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy |
|
Decreased circulating aldosterone level, Decreased circulating renin level |
OMIM:605115 |
Hereditary Coproporphyria |
|
Hyponatremia, Abnormal circulating porphyrin concentration |
ORPHA:79273 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia |
ORPHA:83601 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hypomagnesemia, Hyponatremia, Hyperuricemia |
OMIM:613845 |
Birk-Landau-Perez Syndrome |
|
Hyperkalemia |
OMIM:617595 |
Liddle Syndrome 1 |
|
Decreased circulating renin level, Hypokalemia |
OMIM:177200 |
Colchicine Poisoning |
|
Hyponatremia, Hypokalemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia, Abnormal blood ion con... |
ORPHA:31824 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Increased erythrocyte protoporphyrin concentration, Abnormal circulating porphyrin ... |
ORPHA:100924 |
Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration |
ORPHA:1930 |
Infant Botulism |
|
Mydriasis, Hyponatremia, Keratoconjunctivitis sicca |
ORPHA:178478 |
Genetic Recurrent Myoglobinuria |
|
Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia |
ORPHA:99845 |
Primary Hypomagnesemia With Refractory Seizures And Intellectual Disability |
|
Hypomagnesemia, Episodic hypokalemia |
ORPHA:564178 |
Liddle Syndrome |
|
Hypokalemia |
ORPHA:526 |
Hartsfield Syndrome |
|
Hypernatremia |
OMIM:615465 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypoalbuminemia, Hypomagnesemia, Hypertriglyceridemia, Hypocalcemia |
OMIM:618183 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Central adrenal insufficiency, Pituitary hypothyroidism, Gonadotropin deficiency, Hyperinsulinemi... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Central adrenal insufficiency, Pituitary hypothyroidism, Gonadotropin deficiency, Hyperinsulinemi... |
ORPHA:71526 |
Nephronophthisis 2 |
|
Hyperkalemia, Elevated circulating creatinine concentration |
OMIM:602088 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Hyponatremia, Hypochloremia, Hypokalemia |
OMIM:613090 |
Apparent Mineralocorticoid Excess |
|
Decreased circulating renin level, Hypokalemia |
OMIM:218030 |
Alg8-Cdg |
|
Hyponatremia, Cataract |
ORPHA:79325 |
Juvenile Nephropathic Cystinosis |
|
Hypouricemia, Hyponatremia, Hypocalcemic tetany, Corneal crystals, Hypokalemia, Elevated circulat... |
ORPHA:411634 |
Adrenomyodystrophy |
|
Primary adrenal insufficiency, Pituitary corticotropic cell adenoma |
OMIM:300270 |
Diabetes Insipidus, Neurohypophyseal, X-Linked |
|
Hypokalemia |
OMIM:304900 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Adrenal insufficiency, Death in infancy, Pancreatitis |
OMIM:619386 |
Snakebite Envenomation |
|
Hyponatremia |
ORPHA:449285 |
Familial Dysautonomia |
|
Hyponatremia, Corneal erosion, Heterochromia iridis, Abnormal pupil morphology, Corneal opacity |
ORPHA:1764 |
Autoimmune Polyendocrinopathy Type 1 |
|
Adrenal hyperplasia, Decreased circulating aldosterone level, Hypoparathyroidism, Increased circu... |
ORPHA:3453 |
Hypokalemic Periodic Paralysis |
|
Mildly elevated creatine kinase, Episodic hypokalemia |
ORPHA:681 |
Hypomagnesemia 2, Renal |
|
Hypomagnesemia, Hypokalemia |
OMIM:154020 |
Hypomagnesemia, Seizures, And Mental Retardation 2 |
|
Hypomagnesemia, Hypokalemia |
OMIM:618314 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypoproteinemia, Increased total bilirubin, Increased circulating ferritin concentr... |
OMIM:603553 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hypogonadism, Primary adrenal insufficiency |
OMIM:617872 |
Cholera |
|
Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration |
ORPHA:173 |
8P23.1 Duplication Syndrome |
|
Adrenal insufficiency |
ORPHA:251076 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Hypoalbuminemia, Hyperbilirubinemia, Hyperammonemia |
ORPHA:1667 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Hyponatremia, Hypochloremia, Hypokalemia |
OMIM:602522 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia |
ORPHA:90791 |
Malignant Hyperthermia Of Anesthesia |
|
Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise |
ORPHA:423 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Hypokalemia |
OMIM:613239 |
Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Adrenal insufficiency |
OMIM:618238 |
Hyperaldosteronism, Familial, Type Iii |
|
Decreased circulating renin level, Hypokalemia |
OMIM:613677 |
Renal Tubular Acidosis Iii |
|
Hypokalemia |
OMIM:267200 |
Non-Functioning Pituitary Adenoma |
|
Adrenal insufficiency, Increased serum testosterone level, Abnormality of the pituitary gland, Ad... |
ORPHA:91349 |
Acute Adrenal Insufficiency |
|
Hyperkalemia, Hypercalcemia, Hyponatremia, Hyperuricemia, Increased circulating renin level |
ORPHA:95409 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hypokalemia |
OMIM:188580 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyperkalemia, Hyponatremia |
ORPHA:90790 |
Familial Glucocorticoid Deficiency |
|
Hyperkalemia, Hyponatremia |
ORPHA:361 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Hypokalemia |
OMIM:602722 |
Mirage Syndrome |
|
Hyperkalemia, Hyponatremia |
OMIM:617053 |
Necrotizing Enterocolitis |
|
Hyponatremia |
ORPHA:391673 |
Glycerol Kinase Deficiency |
|
Adrenal insufficiency, Adrenocortical hypoplasia |
OMIM:307030 |
Immunodeficiency 82 With Systemic Inflammation |
|
Elevated circulating C-reactive protein concentration, Hypernatremia, Hypoalbuminemia |
OMIM:619381 |
Legionnaires Disease |
|
Hyponatremia |
ORPHA:549 |
Porphyria Variegata |
|
Hyponatremia, Abnormal circulating porphyrin concentration |
ORPHA:79473 |
Shigellosis |
|
Conjunctivitis, Hyponatremia, Corneal ulceration, Abnormal blood ion concentration |
ORPHA:810 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypomagnesemia, Cataract, Hypokalemia, Hypocalcemia |
OMIM:175500 |
Ectopic Aldosterone-Producing Tumor |
|
Decreased circulating renin level, Hypokalemia |
ORPHA:231632 |
Fanconi Renotubular Syndrome 1 |
|
Hypophosphatemia, Hypokalemia |
OMIM:134600 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Decreased circulating aldosterone level, Adrenal insufficiency, Hypoparathyroidism, Primary adren... |
OMIM:240300 |
Whipple Disease |
|
Hyponatremia |
ORPHA:3452 |
Pituitary Apoplexy |
|
Mydriasis, Hyponatremia |
ORPHA:95613 |
Thyrotoxic Periodic Paralysis |
|
Hyperkalemia, Episodic hypokalemia, Mildly elevated creatine kinase, Hypomagnesemia, Transient hy... |
ORPHA:79102 |
Triple A Syndrome |
|
Adrenal insufficiency, Anterior hypopituitarism |
ORPHA:869 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia, Hyp... |
ORPHA:90038 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Hypercalcemia, Hyperuricemia |
ORPHA:199299 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Increased circulating progesterone, Decreased circulating aldosterone level, Precocious puberty i... |
ORPHA:90793 |
Addison Disease |
|
Hyperkalemia, Hypercalcemia, Hyponatremia, Hyperuricemia, Increased circulating renin level |
ORPHA:85138 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia, Abnormal circulating cholesterol c... |
ORPHA:168558 |
Immunodeficiency 54 |
|
Adrenal insufficiency, Adrenocorticotropic hormone excess |
OMIM:609981 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia, Abnormal circulating cholesterol c... |
ORPHA:289548 |
Cystinosis |
|
Corneal opacity, Hypophosphatemia, Hypokalemia |
ORPHA:213 |
Adenohypophysitis |
|
Hyponatremia |
ORPHA:95512 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia |
ORPHA:293978 |
X-Linked Adrenoleukodystrophy |
|
Adrenal insufficiency, Increased circulating ACTH level, Abnormality of adrenal physiology |
ORPHA:43 |
Familial Hyperaldosteronism Type Ii |
|
Hypokalemia |
ORPHA:404 |
Chédiak-Higashi Syndrome |
|
Hypoproteinemia, Hyponatremia, Increased circulating ferritin concentration, Iris hypopigmentatio... |
ORPHA:167 |
Alg12-Cdg |
|
Hypocholesterolemia, Hyponatremia, Hypoalbuminemia |
ORPHA:79324 |
Infantile Bartter Syndrome With Sensorineural Deafness |
|
Hyponatremia, Hypokalemia, Hypochloremia, Hypomagnesemia, Increased circulating renin level |
ORPHA:89938 |
Hepatocellular Carcinoma |
|
Hyponatremia, Hypercalcemia, Hypokalemia, Hyperbilirubinemia, Hypoalbuminemia |
ORPHA:88673 |
Primary Unilateral Adrenal Hyperplasia |
|
Decreased circulating renin level, Hypokalemia |
ORPHA:231580 |
Panhypophysitis |
|
Hyponatremia |
ORPHA:95513 |
Wolman Disease |
|
Adrenal insufficiency, Adrenal calcification |
ORPHA:75233 |
East Syndrome |
|
Hypomagnesemia, Increased circulating renin level, Hypokalemia |
ORPHA:199343 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hypokalemia |
OMIM:611590 |
Familial Hyperaldosteronism Type I |
|
Hypokalemia |
ORPHA:403 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Decreased circulating renin level, Hypokalemia |
OMIM:615474 |
Romano-Ward Syndrome |
|
Hypokalemia |
ORPHA:101016 |
Holoprosencephaly |
|
Hyponatremia, Cyclopia, Chorioretinal coloboma, Iris coloboma |
ORPHA:2162 |
Fanconi-Bickel Syndrome |
|
Hypouricemia, Hypophosphatemia, Hypokalemia |
OMIM:227810 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Buphthalmos, Hypokalemia, Hypophosphatemia, Hypercholesterolemia, Abnormal pupil mo... |
ORPHA:534 |
Lysosomal Acid Lipase Deficiency |
|
Hyperkalemia, Hyponatremia, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:275761 |
Acute Intermittent Porphyria |
|
Hyponatremia |
ORPHA:79276 |
Apparent Mineralocorticoid Excess |
|
Decreased circulating renin level, Hypokalemia |
ORPHA:320 |
Cystinosis, Nephropathic |
|
Hyponatremia, Corneal crystals, Decreased plasma carnitine, Recurrent corneal erosions, Hypophosp... |
OMIM:219800 |
Nephrotic Syndrome, Type 14 |
|
Hypogonadism, Adrenal insufficiency, Hypothyroidism |
OMIM:617575 |
Japanese Encephalitis |
|
Hyponatremia |
ORPHA:79139 |
Sheehan Syndrome |
|
Hyponatremia |
ORPHA:91355 |
Aa Amyloidosis |
|
Adrenal insufficiency, Hypothyroidism |
ORPHA:85445 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Decreased circulating renin level, Hypokalemia |
ORPHA:231625 |
Ethylene Glycol Poisoning |
|
Hyperkalemia, Hypocalcemia |
ORPHA:31826 |
Flynn-Aird Syndrome |
|
Type II diabetes mellitus, Primary adrenal insufficiency, Abnormality of the thyroid gland |
ORPHA:2047 |
Ane Syndrome |
|
Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Pituitary hypothyroi... |
ORPHA:157954 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyperkalemia, Hyponatremia, Hypocalcemia |
ORPHA:544482 |
Familial Hyperaldosteronism Type Iii |
|
Hypokalemia |
ORPHA:251274 |
Infantile Nephropathic Cystinosis |
|
Hypokalemia, Hypophosphatemia, Corneal crystals, Abnormal cornea morphology, Abnormal blood ion c... |
ORPHA:411629 |
Exercise-Induced Malignant Hyperthermia |
|
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia |
ORPHA:466650 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Hypogonadism, Adrenal insufficiency, Abnormality of the hypothalamus-pituitary axis, Hypothyroidism |
ORPHA:300298 |
Prolactinoma |
|
Central adrenal insufficiency, Adrenocorticotropic hormone deficiency, Hypogonadotropic hypogonad... |
ORPHA:2965 |
Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Increased circulating renin level, Hypokalemia |
OMIM:607364 |
Peroxisome Biogenesis Disorder 2B |
|
Adrenal insufficiency |
OMIM:202370 |
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance |
|
Hypomagnesemia, Increased circulating renin level, Hypokalemia |
OMIM:612780 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Type II diabetes mellitus, Primary adrenal insufficiency, Hyperthyroidism, Thymoma, Hypothyroidis... |
OMIM:269200 |
Neonatal Adrenoleukodystrophy |
|
Primary adrenal insufficiency |
ORPHA:44 |
Juvenile Polyposis Syndrome |
|
Hypokalemia, Hypoalbuminemia |
OMIM:174900 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Enlarged pituitary gland, Diabetes insipidus, Hypogonadotropic hypogonadism, Pituitary hypothyroi... |
ORPHA:91350 |
Lysosomal Acid Lipase Deficiency |
|
Adrenal insufficiency, Death in infancy, Adrenal calcification |
OMIM:278000 |
Immunodeficiency, Common Variable, 10 |
|
Abnormal response to ACTH stimulation test, Central adrenal insufficiency, Decreased response to ... |
OMIM:615577 |
Helix Syndrome |
|
Hypermagnesemia, Hypokalemia |
OMIM:617671 |
Distal Monosomy 13Q |
|
Primary adrenal insufficiency |
ORPHA:1590 |
Xp21 Deletion Syndrome |
|
Hypogonadotropic hypogonadism, Adrenal insufficiency, Primary adrenal insufficiency |
ORPHA:261476 |
Adrenomyodystrophy |
|
Primary adrenal insufficiency |
ORPHA:977 |
Tsh-Secreting Pituitary Adenoma |
|
Goiter, Abnormality of the pituitary gland, Elevated circulating thyroid-stimulating hormone conc... |
ORPHA:91347 |
Hemorrhagic Fever-Renal Syndrome |
|
Hyperkalemia, Elevated circulating creatinine concentration, Hyperphosphatemia |
ORPHA:340 |
Beta-Thalassemia Intermedia |
|
Adrenal insufficiency, Hypoparathyroidism, Hypogonadism, Diabetes mellitus, Hypothyroidism |
ORPHA:231222 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyperkalemia, Hyponatremia, Hypochloremia |
ORPHA:90794 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Hypokalemia |
ORPHA:369929 |
Mercury Poisoning |
|
Hypokalemia |
ORPHA:330021 |
Kearns-Sayre Syndrome |
|
Hypoparathyroidism, Diabetes mellitus, Primary adrenal insufficiency |
OMIM:530000 |
Dominant Beta-Thalassemia |
|
Adrenal insufficiency, Hypoparathyroidism, Diabetes mellitus, Hypothyroidism, Hypopituitarism, De... |
ORPHA:231226 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Hyperlipidemia |
ORPHA:293987 |
Myasthenia Gravis |
|
Abnormality of the thymus, Hashimoto thyroiditis, Hyperthyroidism, Primary adrenal insufficiency |
ORPHA:589 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating aldosterone level, Increased serum testosterone level, Increased circulatin... |
OMIM:202010 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Central hypothyroidism, Central adrenal insufficiency, Premature adrenarche, Hypogonadotropic hyp... |
ORPHA:98754 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Increased serum bile acid concentration |
ORPHA:731 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Central hypothyroidism, Central adrenal insufficiency, Premature adrenarche, Hypogonadotropic hyp... |
ORPHA:98793 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Central hypothyroidism, Central adrenal insufficiency, Premature adrenarche, Hypogonadotropic hyp... |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Central hypothyroidism, Central adrenal insufficiency, Premature adrenarche, Hypogonadotropic hyp... |
ORPHA:177901 |
Craniopharyngioma |
|
Central adrenal insufficiency, Enlarged pituitary gland, Type II diabetes mellitus, Hypogonadotro... |
ORPHA:54595 |
Adrenomyeloneuropathy |
|
Adrenocortical abnormality, Adrenal insufficiency, Adrenocorticotropic hormone excess, Primary ad... |
ORPHA:139399 |
Beta-Thalassemia Major |
|
Adrenal insufficiency, Hypoparathyroidism, Diabetes mellitus, Hypothyroidism, Hypopituitarism, De... |
ORPHA:231214 |
Prader-Willi-Like Syndrome |
|
Central hypothyroidism, Central adrenal insufficiency, Premature adrenarche, Hypogonadotropic hyp... |
ORPHA:398073 |
Gitelman Syndrome |
|
Hypomagnesemia, Increased circulating renin level, Hypokalemia |
OMIM:263800 |
Adrenoleukodystrophy |
|
Hypogonadism, Primary adrenal insufficiency |
OMIM:300100 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Decreased circulating aldosterone level, Adrenocorticotropin receptor defect, Decreased circulati... |
OMIM:231550 |
Carney Triad |
|
Adrenal overactivity, Pheochromocytoma, Adrenocortical adenoma, Paraganglioma |
ORPHA:139411 |
Proximal Renal Tubular Acidosis |
|
Hypokalemia, Hyperuricosuria, Cataract, Coloboma, Band keratopathy, Bicarbonaturia |
ORPHA:47159 |
Prader-Willi Syndrome |
|
Adrenal insufficiency, Type II diabetes mellitus, Hypogonadotropic hypogonadism, Hyperinsulinemia... |
OMIM:176270 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Hypokalemia, Hypophosphatemia, Hyperuricosuria, Decreased plasma carnitine, Bicarbo... |
ORPHA:3337 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Hypokalemia |
OMIM:170390 |
Zellweger Syndrome |
|
Death in infancy, Primary adrenal insufficiency |
ORPHA:912 |
Poems Syndrome |
|
Abnormality of the endocrine system, Primary adrenal insufficiency, Hypogonadism, Diabetes mellit... |
ORPHA:2905 |
Osteootohepatoenteric Syndrome |
|
Increased serum bile acid concentration, Hypokalemia |
OMIM:619377 |
Bartter Syndrome, Type 1, Antenatal |
|
Hypercalcemia, Hypokalemia, Increased serum prostaglandin E2, Hypochloremia, Hypomagnesemia, Hype... |
OMIM:601678 |
Prader-Willi Syndrome |
|
Central hypothyroidism, Central adrenal insufficiency, Xerostomia, Premature adrenarche, Decrease... |
ORPHA:739 |
Pituitary Adenoma 4, Acth-Secreting |
|
Hypokalemia |
OMIM:219090 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating renin level, Hypokalemia |
ORPHA:90795 |
Adrenocortical Carcinoma |
|
Hypokalemia |
ORPHA:1501 |
Generalized Glucocorticoid Resistance Syndrome |
|
Adrenal hyperplasia, Decreased circulating aldosterone level, Increased urinary cortisol level, I... |
ORPHA:786 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Central adrenal insufficiency, Decreased response to growth hormone stimulation test |
OMIM:616007 |
46,Xy Partial Gonadal Dysgenesis |
|
Adrenal insufficiency, Elevated circulating follicle stimulating hormone level, Streak ovary, Abs... |
ORPHA:251510 |
Pearson Syndrome |
|
Hypokalemia, Corneal stromal edema, Hypophosphatemia, Hyperalaninemia, Hypomagnesemia, Cataract, ... |
ORPHA:699 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Male hypogonadism, Primary adrenal insufficiency, Decreased circulating cortisol level |
ORPHA:139396 |
Rabson-Mendenhall Syndrome |
|
Increased C-peptide level, Hypokalemia |
ORPHA:769 |
Bartter Syndrome, Type 2, Antenatal |
|
Hypokalemia, Increased serum prostaglandin E2, Hypochloremia, Hypomagnesemia, Hyperchloriduria, I... |
OMIM:241200 |
Tbck-Related Intellectual Disability Syndrome |
|
Decreased response to growth hormone stimulation test, Hyperthyroidism, Hypothyroidism, Central a... |
ORPHA:488632 |
Peroxisome Biogenesis Disorder 4B |
|
Adrenal insufficiency |
OMIM:614863 |
Scorpion Envenomation |
|
Mydriasis, Increased circulating NT-proBNP concentration, Hypokalemia, Increased circulating crea... |
ORPHA:466677 |
Marburg Hemorrhagic Fever |
|
Conjunctival hyperemia, Hyperamylasemia, Hypokalemia, Elevated circulating creatine kinase concen... |
ORPHA:99826 |
Vipoma |
|
Hypercalcemia, Hypokalemia |
ORPHA:97282 |
Nelson Syndrome |
|
Hypokalemia |
ORPHA:199244 |
Gitelman Syndrome |
|
Hypermagnesemia, Hypocalcemia, Hypokalemia, Hypomagnesemia |
ORPHA:358 |
Immunodeficiency 87 And Autoimmunity |
|
Elevated circulating C-reactive protein concentration, Hypertriglyceridemia, Hypokalemia |
OMIM:619573 |
Distal Renal Tubular Acidosis |
|
Hypokalemia |
ORPHA:18 |
D-Bifunctional Protein Deficiency |
|
Primary adrenal insufficiency |
OMIM:261515 |
Crimean-Congo Hemorrhagic Fever |
|
Adrenal insufficiency, Inappropriate antidiuretic hormone secretion, Parotitis, Acute pancreatiti... |
ORPHA:99827 |
Leprechaunism |
|
Increased circulating renin level, Hypokalemia |
ORPHA:508 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Pineal cyst, Primary adrenal insufficiency, Hypothyroidism, Decreased response to growth hormone ... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Pineal cyst, Primary adrenal insufficiency, Hypothyroidism, Decreased response to growth hormone ... |
ORPHA:363958 |
Microphthalmia, Syndromic 2 |
|
Adrenal insufficiency, Hypothyroidism |
OMIM:300166 |
Pallister-Hall Syndrome |
|
Abnormal prolactin level, Central adrenal insufficiency, Adrenocorticotropic hormone deficiency, ... |
ORPHA:672 |
Acute Liver Failure |
|
Adrenal insufficiency |
ORPHA:90062 |
Orofaciodigital Syndrome Type 4 |
|
Primary adrenal insufficiency |
ORPHA:2753 |
Vascular Ehlers-Danlos Syndrome |
|
Abnormal pupil morphology, Keratoconus, Hypokalemia |
ORPHA:286 |