Retinal Dysplasia, Primary |
|
Falciform retinal fold, Retinal dysplasia |
OMIM:312550 |
Retinoschisis, Autosomal Dominant |
|
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis |
OMIM:180270 |
Stargardt Disease 1 |
|
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration |
OMIM:248200 |
Macular Degeneration, Age-Related, 13 |
|
Macular scar, Choroidal neovascularization, Macular degeneration, Drusen |
OMIM:615439 |
Exudative Vitreoretinopathy 7 |
|
Retinal degeneration, Vitreoretinopathy, Retinal hole |
OMIM:617572 |
Retinitis Pigmentosa 36 |
|
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... |
OMIM:610599 |
Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
X-Linked Retinal Dysplasia |
|
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Retinal dysplasia |
ORPHA:1852 |
Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
Cone-Rod Dystrophy 5 |
|
Macular degeneration |
OMIM:600977 |
Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
Exudative Vitreoretinopathy 3 |
|
Exudative vitreoretinopathy, Retinal detachment, Retinal fold, Retinal hole, Retinal exudate |
OMIM:605750 |
Retinoschisis 1, X-Linked, Juvenile |
|
Vitreous hemorrhage, Retinal degeneration, Retinal detachment, Retinal pigment epithelial atrophy... |
OMIM:312700 |
Central Retinal Vein Occlusion |
|
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... |
ORPHA:411527 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Peripheral retinal avascularization, Falciform retinal fold, Retinal... |
OMIM:305390 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Abnormal fundus autofluorescence imaging, Subretinal deposits, Yellow/white lesions of the macula... |
ORPHA:59181 |
Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration |
OMIM:618513 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Vitreous hemorrhage, Peripheral retinal neovascularization, Retinal detachment, Vitreoretinopathy... |
OMIM:193235 |
Lattice Degeneration Of Retina Leading To Retinal Detachment |
|
Retinal detachment, Lattice retinal degeneration |
OMIM:150500 |
Exudative Vitreoretinopathy 1 |
|
Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Peripheral retin... |
OMIM:133780 |
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen |
|
Retinal detachment, Cone dystrophy, Cone/cone-rod dystrophy |
OMIM:304030 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dystrophy, Ret... |
OMIM:180210 |
Familial Exudative Vitreoretinopathy |
|
Vitreous hemorrhage, Rhegmatogenous retinal detachment, Peripheral retinal avascularization, Chor... |
ORPHA:891 |
Familial Drusen |
|
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig... |
ORPHA:75376 |
Retinitis Pigmentosa 13 |
|
Cystoid macular edema, Retinal degeneration, Rod-cone dystrophy, Hypopigmentation of the fundus |
OMIM:600059 |
Birdshot Chorioretinopathy |
|
Photoreceptor layer loss on macular OCT, Abnormal retinal vascular morphology, Macular hole, Cyst... |
ORPHA:179 |
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Retinal arterial macroaneurysms, Retinal detachment, Exudative retinal detachment |
OMIM:614224 |
Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Retinopathy, Retinal degeneration, Rod-cone dystrophy |
OMIM:605670 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Optic disc pallor, Retinal thinning, Hyperglycemia |
OMIM:618970 |
Macular Degeneration, Age-Related, 1 |
|
Macular degeneration, Foveal hypopigmentation, Geographic atrophy, Choroidal neovascularization, ... |
OMIM:603075 |
Chorioretinal Atrophy, Progressive Bifocal |
|
Chorioretinal atrophy, Retinal detachment, Chorioretinal dystrophy |
OMIM:600790 |
Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal degeneration |
OMIM:617879 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy |
OMIM:615922 |
Retinitis Pigmentosa 50 |
|
Rod-cone dystrophy, Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, Opt... |
OMIM:613194 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia |
OMIM:600496 |
Retinitis Pigmentosa 32 |
|
Photoreceptor layer loss on macular OCT, Retinal degeneration, Attenuation of retinal blood vesse... |
OMIM:609913 |
Exudative Vitreoretinopathy 6 |
|
Posterior vitreous detachment, Chorioretinal atrophy, Exudative vitreoretinopathy, Retinal detach... |
OMIM:616468 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613370 |
Retinal Venous Beading |
|
Abnormal distribution of retinal arterioles and venules, Retinal infarction, Vitreous hemorrhage,... |
OMIM:180080 |
Hyperchlorhidrosis, Isolated |
|
Hyperkalemia, Hyponatremia |
OMIM:143860 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hypoglycemia, Hyperkalemia, Hyponatremia |
OMIM:614736 |
Diabetes And Deafness, Maternally Inherited |
|
Pigmentary retinopathy, Type II diabetes mellitus, Retinal degeneration, Hyperglycemia |
OMIM:520000 |
Irvan Syndrome |
|
Macular edema, Retinal detachment, Optic atrophy, Vitreous floaters, Tractional retinal detachmen... |
ORPHA:209943 |
Eales Disease |
|
Vitreous hemorrhage, Cystoid macular edema, Rhegmatogenous retinal detachment, Subhyaloid hemorrh... |
ORPHA:40923 |
Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
Hypoadrenocorticism, Familial |
|
Hypoglycemia, Hyperkalemia, Hyponatremia |
OMIM:240200 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Retinal dysplasia |
OMIM:615041 |
Vitreoretinochoroidopathy |
|
Vitreous hemorrhage, Retinal arteriolar constriction, Retinal detachment, Retinal neovascularizat... |
OMIM:193220 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hyperkalemia |
OMIM:609153 |
Vitreoretinal Degeneration, Snowflake Type |
|
Snowflake vitreoretinal degeneration, Retinal detachment, Optically empty vitreous, Retinal dots |
OMIM:193230 |
Hyperproinsulinemia |
|
Hyperinsulinemia, Hyperglycemia |
OMIM:616214 |
Hyperkalemic Periodic Paralysis |
|
Hyperkalemia |
OMIM:170500 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia |
OMIM:154275 |
Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia |
OMIM:141000 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia |
OMIM:154276 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced C-peptide level... |
OMIM:618858 |
Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Myopia 3, Autosomal Dominant |
|
Retinal detachment |
OMIM:603221 |
Myopia 5, Autosomal Dominant |
|
Retinal detachment |
OMIM:608474 |
Myopia 2, Autosomal Dominant |
|
Retinal detachment |
OMIM:160700 |
Pseudohypoaldosteronism, Type Iia |
|
Hyperkalemia |
OMIM:145260 |
Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hyperkalemia |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hyperkalemia |
OMIM:614495 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia |
OMIM:145600 |
Apparent Mineralocorticoid Excess |
|
Decreased circulating renin level, Hypokalemia, Hypertensive retinopathy |
OMIM:218030 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Elevated circulating creatine kinase concentration, Hyperkalemia |
OMIM:268200 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:610600 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Maternal diabetes, Hyperglycemia |
OMIM:610582 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:203400 |
Myopia 28, Autosomal Recessive |
|
Retinal detachment |
OMIM:619781 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced C-peptide level, Diabetes mellitus, Hy... |
OMIM:606176 |
Hyperaldosteronism, Familial, Type Ii |
|
Hypokalemia |
OMIM:605635 |
Pseudohypoaldosteronism Type 2 |
|
Hyperkalemia |
ORPHA:757 |
Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Hyperkalemia |
OMIM:614492 |
Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Hyperkalemia |
OMIM:614496 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Hyperglycemia |
OMIM:307500 |
Mody |
|
Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Re... |
ORPHA:552 |
Bardet-Biedl Syndrome 9 |
|
Retinal degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Bone spicule pigm... |
OMIM:615986 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:177735 |
Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:556037 |
Pseudohypoaldosteronism, Type I, Autosomal Recessive |
|
Hyperkalemia, Hyponatremia |
OMIM:264350 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia |
OMIM:618856 |
Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:556030 |
Transient Neonatal Diabetes Mellitus |
|
Hypoinsulinemia, Maturity-onset diabetes of the young, Diabetic ketoacidosis, Maternal diabetes, ... |
ORPHA:99886 |
Hyperkalemic Periodic Paralysis |
|
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyponatremia, Hypokalemia |
ORPHA:682 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Hypokalemia |
OMIM:613345 |
Type 1 Diabetes Mellitus |
|
Decreased level of 1,5 anhydroglucitol in serum, Hyperglycemia, Diabetes mellitus |
OMIM:222100 |
Liddle Syndrome 3 |
|
Hypokalemia |
OMIM:618126 |
Hypokalemic Periodic Paralysis |
|
Postprandial hyperglycemia, Episodic hypokalemia, Mildly elevated creatine kinase |
ORPHA:681 |
Birk-Landau-Perez Syndrome |
|
Optic atrophy, Hyperkalemia, Increased circulating creatine kinase MB isoform |
OMIM:617595 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Elevated creatine kinase after exercise, Hyperkalemia |
ORPHA:57 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:171876 |
Genetic Recurrent Myoglobinuria |
|
Highly elevated creatine kinase, Hypocalcemia, Hyperphosphatemia, Hyperkalemia |
ORPHA:99845 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hyperkalemia |
OMIM:608885 |
Lipodystrophy, Familial Partial, Type 3 |
|
Type II diabetes mellitus, Hyperinsulinemia, Decreased HDL cholesterol concentration, Maternal di... |
OMIM:604367 |
Nephronophthisis 2 |
|
Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:602088 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Insulin-resist... |
OMIM:262190 |
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Increased serum prostaglandin E2, Hypokalemia, Abnormal magnesium concentration, Increased circul... |
OMIM:241150 |
Cystinosis |
|
Retinopathy, Hypophosphatemia, Type I diabetes mellitus, Hypokalemia |
ORPHA:213 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypomagnesemia, Hypokalemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia |
OMIM:601198 |
Familial Glucocorticoid Deficiency |
|
Ketotic hypoglycemia, Hyperkalemia, Hypoglycemic seizures, Hyponatremia |
ORPHA:361 |
Familial Pseudohyperkalemia |
|
Hyperkalemia |
ORPHA:90044 |
Thyrotoxic Periodic Paralysis |
|
Postprandial hyperglycemia, Hypomagnesemia, Episodic hypokalemia, Mildly elevated creatine kinase... |
ORPHA:79102 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Retinal neovascularization |
OMIM:619074 |
Mirage Syndrome |
|
Hypoglycemia, Hyperkalemia, Hyponatremia |
OMIM:617053 |
Coats Disease |
|
Retinal telangiectasia, Exudative retinal detachment |
OMIM:300216 |
Bartter Syndrome, Type 3 |
|
Hypokalemia, Abnormal retinal vascular morphology, Abnormal choroid morphology, Increased circula... |
OMIM:607364 |
Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:427 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hypoglycemia, Hyperkalemia, Hyponatremia |
ORPHA:90790 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Neonatal hypoglycemia, Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:90791 |
Acute Adrenal Insufficiency |
|
Increased circulating renin level, Hypoglycemia, Hyponatremia, Hyperuricemia, Hypercalcemia, Hype... |
ORPHA:95409 |
Neuroleptic Malignant Syndrome |
|
Hypomagnesemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Hypernatremia, ... |
ORPHA:94093 |
Apparent Mineralocorticoid Excess |
|
Decreased circulating renin level, Hypokalemia, Hypertensive retinopathy |
ORPHA:320 |
Liddle Syndrome |
|
Hypokalemia |
ORPHA:526 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Hypokalemia |
OMIM:170400 |
Fanconi Renotubular Syndrome 1 |
|
Hypophosphatemia, Glycosuria, Hypokalemia |
OMIM:134600 |
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Hypomagnesemia, Episodic hypokalemia |
ORPHA:564178 |
Renal Tubular Acidosis, Distal, 1 |
|
Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia |
OMIM:179800 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hypomagnesemia, Hypokalemia |
OMIM:618314 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Abnormal retinal vascular morphology, Macular edema, Retinal neovascularization, Elevated circula... |
ORPHA:247691 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Hypochloremia, Increased circulating renin level |
OMIM:300971 |
Rabson-Mendenhall Syndrome |
|
Postprandial hyperglycemia, Hypokalemia, Insulin resistance, Diabetic ketoacidosis, Retinopathy, ... |
ORPHA:769 |
Liddle Syndrome 2 |
|
Decreased circulating renin level, Hypokalemia |
OMIM:618114 |
Addison Disease |
|
Increased circulating renin level, Hypoglycemia, Type I diabetes mellitus, Hyponatremia, Hyperuri... |
ORPHA:85138 |
Malignant Hyperthermia Of Anesthesia |
|
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia |
ORPHA:423 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation |
|
Hypokalemia, Hyperamylasemia |
OMIM:604278 |
Diabetes Insipidus, Neurohypophyseal, X-Linked |
|
Hypokalemia |
OMIM:304900 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Increased circulating renin level, Abnormal circulating cholesterol concentration, Hyponatremia, ... |
ORPHA:168558 |
Fanconi-Bickel Syndrome |
|
Hypouricemia, Hypophosphatemia, Glycosuria, Hypokalemia |
OMIM:227810 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Type I diabetes mellitus, Glycosuria, Hyperglycemia |
OMIM:618857 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Increased circulating renin level, Abnormal circulating cholesterol concentration, Hyponatremia, ... |
ORPHA:289548 |
Hypomagnesemia 2, Renal |
|
Hypomagnesemia, Hypokalemia |
OMIM:154020 |
Infantile Nephropathic Cystinosis |
|
Hypophosphatemia, Hypokalemia, Glycosuria, Pigmentary retinopathy, Abnormal blood ion concentration |
ORPHA:411629 |
Insulin-Resistance Syndrome Type B |
|
Postprandial hyperglycemia, Glucose intolerance, Type II diabetes mellitus, Hyperinsulinemia, Hyp... |
ORPHA:2298 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Hypokalemia |
OMIM:602722 |
Ethylene Glycol Poisoning |
|
Hypocalcemia, Hyperkalemia |
ORPHA:31826 |
Liddle Syndrome 1 |
|
Decreased circulating renin level, Hypokalemia |
OMIM:177200 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Hypokalemia |
OMIM:613239 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hypokalemia |
OMIM:188580 |
Renal Tubular Acidosis Iii |
|
Hypokalemia |
OMIM:267200 |
Cholera |
|
Hypokalemia, Hypocalcemia, Hypoglycemia, Abnormal blood ion concentration, Hyponatremia |
ORPHA:173 |
Pancreatic And Cerebellar Agenesis |
|
Hypoglycemia, Optic nerve hypoplasia, Hyperglycemia, Diabetes mellitus |
OMIM:609069 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hypocalcemia, Hyperkalemia, Hyponatremia, Diabetes mellitus |
ORPHA:544482 |
Colchicine Poisoning |
|
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Abnormal blood ion concentration, Hy... |
ORPHA:31824 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hypokalemia, Hypochloremia, Hyponatremia |
OMIM:214700 |
Lysosomal Acid Lipase Deficiency |
|
Hypertriglyceridemia, Hyperkalemia, Hyponatremia, Hypercholesterolemia |
ORPHA:275761 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypomagnesemia, Hypokalemia, Hypocalcemia |
OMIM:175500 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hypokalemia |
OMIM:611590 |
Familial Hyperaldosteronism Type Ii |
|
Hypokalemia |
ORPHA:404 |
East Syndrome |
|
Hypomagnesemia, Hypokalemia, Increased circulating renin level |
ORPHA:199343 |
Hemorrhagic Fever-Renal Syndrome |
|
Elevated circulating creatinine concentration, Hyperphosphatemia, Hyperkalemia |
ORPHA:340 |
Cystinosis, Nephropathic |
|
Hypophosphatemic rickets, Hypomagnesemia, Hypophosphatemia, Hypokalemia, Retinal pigment epitheli... |
OMIM:219800 |
Familial Hyperaldosteronism Type I |
|
Hypokalemia |
ORPHA:403 |
Hyperaldosteronism, Familial, Type Iii |
|
Decreased circulating renin level, Hypokalemia |
OMIM:613677 |
Exercise-Induced Malignant Hyperthermia |
|
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia, Hypocalcemia |
ORPHA:466650 |
Romano-Ward Syndrome |
|
Hypokalemia |
ORPHA:101016 |
Pituitary Adenoma 4, Acth-Secreting |
|
Glucose intolerance, Hypokalemia, Impaired glucose tolerance |
OMIM:219090 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Elevated alpha-fetoprotein, Elevated circulating creatinine concentration, Hypokalemia |
OMIM:613095 |
Primary Fanconi Renotubular Syndrome |
|
Hypophosphatemic rickets, Hypophosphatemia, Hypokalemia, Glycosuria, Hypoglycemia, Decreased plas... |
ORPHA:3337 |
Ectopic Aldosterone-Producing Tumor |
|
Decreased circulating renin level, Hypokalemia |
ORPHA:231632 |
Familial Hyperaldosteronism Type Iii |
|
Hypokalemia |
ORPHA:251274 |
Juvenile Nephropathic Cystinosis |
|
Hypophosphatemia, Hypokalemia, Hypocalcemia, Glycosuria, Hypocalcemic tetany, Elevated circulatin... |
ORPHA:411634 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Neonatal hypoglycemia, Hyperkalemia, Hypochloremia, Hyponatremia |
ORPHA:90794 |
Nelson Syndrome |
|
Optic nerve compression, Type II diabetes mellitus, Hypokalemia |
ORPHA:199244 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia |
OMIM:613090 |
Pearson Syndrome |
|
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Glycosuria, Pigmentary retinopathy, ... |
ORPHA:699 |
Primary Unilateral Adrenal Hyperplasia |
|
Decreased circulating renin level, Hypokalemia |
ORPHA:231580 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Decreased circulating renin level, Hypokalemia |
OMIM:615474 |
Adrenocortical Carcinoma |
|
Hypokalemia, Diabetes mellitus |
ORPHA:1501 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Hypokalemia |
ORPHA:369929 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Decreased circulating renin level, Hypokalemia |
ORPHA:231625 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia |
OMIM:602522 |
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance |
|
Hypomagnesemia, Hypokalemia, Increased circulating renin level |
OMIM:612780 |
Hepatocellular Carcinoma |
|
Type II diabetes mellitus, Hypokalemia, Hyperbilirubinemia, Hypoglycemia, Hypoalbuminemia, Hypona... |
ORPHA:88673 |
Gitelman Syndrome |
|
Glucose intolerance, Hypomagnesemia, Type II diabetes mellitus, Hypokalemia, Hypocalcemia, Diabet... |
ORPHA:358 |
Helix Syndrome |
|
Hypokalemia, Hypermagnesemia |
OMIM:617671 |
Mercury Poisoning |
|
Hypokalemia |
ORPHA:330021 |
Leprechaunism |
|
Postprandial hyperglycemia, Hyperinsulinemia, Hypokalemia, Insulin resistance, Increased circulat... |
ORPHA:508 |
Osteootohepatoenteric Syndrome |
|
Hypokalemia, Increased serum bile acid concentration |
OMIM:619377 |
Gitelman Syndrome |
|
Hypomagnesemia, Hypokalemia, Increased circulating renin level |
OMIM:263800 |
Bartter Syndrome, Type 1, Antenatal |
|
Hypomagnesemia, Hypokalemia, Increased circulating renin level, Hypercalcemia, Increased serum pr... |
OMIM:601678 |
Generalized Glucocorticoid Resistance Syndrome |
|
Hypoglycemia, Hypokalemia |
ORPHA:786 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia, Hyponatremia, Hyp... |
ORPHA:90038 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Hypokalemia |
OMIM:170390 |
Juvenile Polyposis Syndrome |
|
Hypokalemia, Hypoalbuminemia |
OMIM:174900 |
Scorpion Envenomation |
|
Hypokalemia, Increased circulating NT-proBNP concentration, Glycosuria, Increased circulating cre... |
ORPHA:466677 |
Vipoma |
|
Hypokalemia, Hypercalcemia, Diabetes mellitus |
ORPHA:97282 |
Bartter Syndrome Type 4 |
|
Hypomagnesemia, Hypokalemia, Increased circulating renin level, Hyponatremia, Hypochloremia |
ORPHA:89938 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating renin level, Hypokalemia |
ORPHA:90795 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hypophosphatemia, Hypokalemia, Hypoammonemia, Chorioretinal dysplasia, Hyponatremia, Hypercholest... |
ORPHA:534 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased circulating renin level, Hypokalemia |
ORPHA:90793 |
Marburg Hemorrhagic Fever |
|
Hypokalemia, Hyperammonemia, Elevated circulating creatine kinase concentration, Hypoglycemia, El... |
ORPHA:99826 |
Bartter Syndrome, Type 2, Antenatal |
|
Hypomagnesemia, Hypokalemia, Increased circulating renin level, Increased serum prostaglandin E2,... |
OMIM:241200 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating renin level, Hypokalemia |
OMIM:202010 |
Proximal Renal Tubular Acidosis |
|
Hypokalemia, Glycosuria, Bicarbonaturia |
ORPHA:47159 |
Immunodeficiency 87 And Autoimmunity |
|
Hypertriglyceridemia, Hypokalemia, Elevated circulating C-reactive protein concentration |
OMIM:619573 |
Distal Renal Tubular Acidosis |
|
Hypokalemia |
ORPHA:18 |
Tsh-Secreting Pituitary Adenoma |
|
Hypokalemia |
ORPHA:91347 |
Vascular Ehlers-Danlos Syndrome |
|
Hypokalemia |
ORPHA:286 |