| Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Cone-shaped epiphyses of the phalanges of the hand, Hypocalcemia, Delayed epiphyseal ossification... |
OMIM:618618 |
| Pseudohypoparathyroidism, Type Ib |
|
Hypocalcemia, Hyperphosphatemia, Short metacarpal, Brachydactyly |
OMIM:603233 |
| Hypoparathyroidism, Familial Isolated, 2 |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:618883 |
| Pseudohypoparathyroidism Type 2 |
|
Hypocalcemic seizures, Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia, Laryngeal dystonia |
ORPHA:94090 |
| Pseudohypoparathyroidism, Type Ii |
|
Hypocalcemia, Hyperphosphatemia |
OMIM:203330 |
| Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
| Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
| Vitamin D-Dependent Rickets, Type 3 |
|
Flared metaphysis, Metaphyseal cupping, Hypocalcemia, Hypophosphatemia, Bowing of the legs, Genu ... |
OMIM:619073 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hypocalcemia, Increased circulating renin level, Hypomagnesemia, Hyperphosphatemia |
OMIM:601198 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypomagnesemia |
ORPHA:2239 |
| Hypoparathyroidism, Familial Isolated, 1 |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:146200 |
| Pseudohypoparathyroidism, Type Ia |
|
Short finger, Short metatarsal, Short metacarpal, Short toe, Brachydactyly, Hypocalcemic tetany, ... |
OMIM:103580 |
| Pseudohypoparathyroidism, Type Ic |
|
Short metatarsal, Hypocalcemia, Short metacarpal, Hypocalcemic tetany, Brachydactyly, Hyperphosph... |
OMIM:612462 |
| Pseudohypoparathyroidism Type 1B |
|
Hypocalcemic seizures, Diaphyseal sclerosis, Hypocalcemia, Cortical subperiosteal resorption of h... |
ORPHA:94089 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Multiple muscular ventricular septal defects, Pulmonic stenosis, Hypernatremia, Sparse hair, Palm... |
OMIM:615508 |
| Genetic Recurrent Myoglobinuria |
|
Hyperkalemia, Proximal muscle weakness in upper limbs, Difficulty walking, Hypocalcemia, Hyperpho... |
ORPHA:99845 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia, Ataxia |
OMIM:616949 |
| Pyruvate Carboxylase Deficiency |
|
Hypertaurinemia, Tip-toe gait, Elevated plasma citrulline, Hepatomegaly, Hyperglutamatemia, Tremo... |
ORPHA:3008 |
| Autoimmune Hypoparathyroidism |
|
Hypocalcemic seizures, Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia, Laryngeal dystonia |
ORPHA:36913 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Genu valgum, Fibular bowing, Hypophosphatemic rickets, Cupped metaphyses of hand bones, Tibial bo... |
OMIM:307800 |
| Blue Diaper Syndrome |
|
Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
| Neuroleptic Malignant Syndrome |
|
Hyperkalemia, Oculogyric crisis, Hyperuricemia, Hypocalcemia, Tremor, Elevated circulating creati... |
ORPHA:94093 |
| Hyperchlorhidrosis, Isolated |
|
Hyperkalemia, Hyponatremia |
OMIM:143860 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hypocalcemic seizures, Hypocalcemia, Short palm, Hyperphosphatemia, Short foot, Small hand |
OMIM:241410 |
| Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hypokalemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Dilated cardiomyopathy |
OMIM:620152 |
| Acute Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
| Glucose-Galactose Malabsorption |
|
Hypernatremia, Hypercalcemia |
ORPHA:35710 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hyperalaninemia, Hyperammonemia, Hypoornithinemia, Hypernatremia, Hyperprolinemia, Low plasma cit... |
OMIM:615751 |
| Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia |
ORPHA:3225 |
| Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration |
OMIM:604765 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Hypernatremia |
OMIM:125800 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Hypernatremia |
OMIM:304800 |
| Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Exaggerated startle response, Partial atrioventricular canal defect, Hypernatremia, Dystonia, Hyp... |
OMIM:620423 |
| Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia, Dystonia, Ataxia |
ORPHA:163921 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Short metatarsal, Cone-shaped epiphyses of the phalanges of the hand, Dislocated radial head, Epi... |
OMIM:101800 |
| Pseudohypoparathyroidism Type 1C |
|
Short 4th metacarpal, Calcinosis, Hypocalcemic seizures, Short metatarsal, Hypocalcemia, Short fi... |
ORPHA:79444 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Difficulty walking, Fibular bowing, Enlargement of the wrists, Hypocalcemia, Delayed epiphyseal o... |
OMIM:600081 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
OMIM:620126 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
OMIM:620125 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Metacarpal periosteal thickening, Hypercalcemia |
OMIM:617994 |
| Pseudohypoparathyroidism Type 1A |
|
Short 4th metacarpal, Calcinosis, Hypocalcemic seizures, Short metatarsal, Hypocalcemia, Short fi... |
ORPHA:79443 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Hydroxyprolinemia, Hyperuricemia, Bowing of the long bones, Lateral femoral bowing, Short humerus... |
OMIM:239000 |
| Webb-Dattani Syndrome |
|
Hypernatremia, Hip dislocation |
OMIM:615926 |
| Calciphylaxis |
|
Hyperphosphatemia |
ORPHA:280062 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Left atrial enlargement, Limited elbow movement, Ventricular hypertrophy, Cardiomyopathy, Left ve... |
OMIM:300280 |
| Sanjad-Sakati Syndrome |
|
Hypocalcemia, Hyperphosphatemia, Short foot, Small hand |
ORPHA:2323 |
| Hypophosphatemic Bone Disease |
|
Bowing of the legs, Hypophosphatemia |
OMIM:146350 |
| Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Abnormality of the medullary cavity of the long bones, Hypocalcemia, ... |
OMIM:127000 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Abnormal metaphysis morphology, Genu valgum, Abnormal hip bone morphology, Hypocalcemia, Gait dis... |
ORPHA:93160 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Hypophosphatemic rickets, Fibular bowing, Difficulty walking, Enlargement of the wrists, Delayed ... |
OMIM:241530 |
| 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 |
| Hyperkalemic Periodic Paralysis |
|
Hyperkalemia, Hypokalemia, Elevated circulating creatine kinase concentration, Gait disturbance, ... |
ORPHA:682 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Decreased serum creatinine, Hyponatremia, Decreased circulating renin level, Reduced blood urea n... |
OMIM:300539 |
| Nephrogenic Diabetes Insipidus |
|
Hypernatremia |
ORPHA:223 |
| Malignant Hyperthermia Of Anesthesia |
|
Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise, Cardiomyocyte mitochond... |
ORPHA:423 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Hypocalcemic seizures, Fibular bowing, Difficulty walking, Enlargement of the wrists, Hypocalcemi... |
OMIM:264700 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:241520 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Hypocalcemic seizures, Fibular bowing, Difficulty walking, Enlargement of the wrists, Delayed epi... |
OMIM:277440 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Increased LDL choles... |
OMIM:267700 |
| Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide concentration, Waddli... |
ORPHA:157215 |
| Linear Verrucous Nevus Syndrome |
|
Toe syndactyly, Short metacarpal, Hypophosphatemia, Sparse scalp hair |
ORPHA:2611 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Clinodactyly of the 5th finger, Clubbing of fingers, Metaphyseal cupping, Short long bone, Waddli... |
OMIM:156400 |
| Autosomal Dominant Hypocalcemia |
|
Writer's cramp, Hypocalcemia, Hypomagnesemia, Hyperphosphatemia, Alopecia |
ORPHA:428 |
| Wolcott-Rallison Syndrome |
|
Hepatomegaly, Difficulty walking, Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Metaphyseal d... |
ORPHA:1667 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
OMIM:177735 |
| Hypoadrenocorticism, Familial |
|
Hyperkalemia, Hyponatremia |
OMIM:240200 |
| Late-Onset Familial Hypoaldosteronism |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
ORPHA:556037 |
| Oncogenic Osteomalacia |
|
Abnormal fibula morphology, Abnormal femur morphology, Hypocalcemia, Tibial bowing, Gait disturba... |
ORPHA:352540 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Hypercalcemia, Hyperphosphatemia |
OMIM:211900 |
| Hereditary Coproporphyria |
|
Proximal muscle weakness in upper limbs, Facial hirsutism, Extension of hair growth on temples to... |
ORPHA:79273 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia |
OMIM:300971 |
| Hypercalcemia, Infantile, 2 |
|
Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
| Alg8-Cdg |
|
Camptodactyly, Hyponatremia, Ataxia, Brachydactyly, Talipes equinovarus |
ORPHA:79325 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Hypocalcemic seizures, Thin long bone diaphyses, Cortical thickening of long bone diaphyses, Hypo... |
ORPHA:93325 |
| Early-Onset Familial Hypoaldosteronism |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
ORPHA:556030 |
| Central Diabetes Insipidus |
|
Hyponatremia |
ORPHA:178029 |
| Dent Disease 2 |
|
Hypophosphatemia, Elevated circulating creatine kinase concentration |
OMIM:300555 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Hypophosphatemic rickets, Fibular bowing, Enlargement of the wrists, Delayed epiphyseal ossificat... |
OMIM:300554 |
| Fanconi Renotubular Syndrome 5 |
|
Genu valgum, Hypophosphatemia, Hypophosphatemic rickets |
OMIM:618913 |
| Hartsfield Syndrome |
|
Hypernatremia, Ectrodactyly, Syndactyly |
OMIM:615465 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Hepatomegaly, Hypocalcemic seizures, Difficulty walking, Enlargement of the wrists, Hypocalcemia,... |
ORPHA:289157 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyperkalemia, Hyponatremia |
OMIM:264350 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hypertriglyceridemia, Hepatomegaly, Hypoproteinemia, Increased total bilirubin, Hyponatremia, Hep... |
OMIM:603553 |
| Colchicine Poisoning |
|
Myocarditis, Hypokalemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypophosphatemia, Abnormal ... |
ORPHA:31824 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Abnormal circulating porphyrin concentration, Increased erythrocyte protoporphyrin ... |
ORPHA:100924 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Hypocalcemia, Bowing of the legs, Hypophosphatemia |
ORPHA:89937 |
| Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:193100 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Hepatomegaly, Concentric hypertrophic cardiomyopathy, Patent foramen ovale, Tremor, Elevated circ... |
OMIM:610505 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia |
ORPHA:91354 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Increased circulating renin level, Hyponatremia, Hyperkalemia |
ORPHA:171876 |
| Alg12-Cdg |
|
Muscular ventricular septal defect, Clinodactyly of the 5th finger, Proximal placement of thumb, ... |
ORPHA:79324 |
| Aica-Ribosiduria Due To Atic Deficiency |
|
Hyponatremia, Secundum atrial septal defect |
OMIM:608688 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyperkalemia, Hyponatremia |
OMIM:614736 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Hypoalbuminemia |
ORPHA:88643 |
| Hypomagnesemia 3, Renal |
|
Genu valgum, Hypocalcemic seizures, Increased circulating beta-C-terminal telopeptide concentrati... |
OMIM:248250 |
| Legionnaires Disease |
|
Myocarditis, Pericarditis, Hyponatremia, Ataxia, Splenomegaly, Endocarditis |
ORPHA:549 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia |
OMIM:214700 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Calcinosis, Inability to walk, Hypokalemia, Hypocalcemia, Congenital hip dislocation, Epiphyseal ... |
OMIM:617913 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Highly arched eyebrow, Hyponatremia |
OMIM:620157 |
| Mirage Syndrome |
|
Rocker bottom foot, Hyperkalemia, Radial club hand, Hyponatremia, Overlapping fingers, Talipes eq... |
OMIM:617053 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia |
ORPHA:83601 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Increased blood urea nitrogen, Hyponatremia, Hypomagnesemia, Hyperuricemia |
OMIM:613845 |
| Exercise-Induced Malignant Hyperthermia |
|
Hyperkalemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Ataxia, Hyperphos... |
ORPHA:466650 |
| Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration |
ORPHA:1930 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Hypophosphatemic rickets, Single transverse palmar crease, Elevated circulating creatine kinase c... |
OMIM:619743 |
| Dent Disease 1 |
|
Fibular bowing, Enlargement of the wrists, Delayed epiphyseal ossification, Tibial bowing, Femora... |
OMIM:300009 |
| Opsismodysplasia |
|
Rhizomelia, Metaphyseal cupping, Hypoplastic pubic bone, Short long bone, Flat acetabular roof, S... |
OMIM:258480 |
| Cystinosis |
|
Gait disturbance, Hypophosphatemia, Hypokalemia |
ORPHA:213 |
| Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hepatomegaly, Hypercalcemia, Hypophosphatemia, Splenomegaly, Metaphyseal irregularity |
OMIM:239200 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Hypernatremia, Hypoalbuminemia, Splenomegaly, Elevated circulating C-reactive protein concentration |
OMIM:619381 |
| Congenital Isolated Acth Deficiency |
|
Hyponatremia |
ORPHA:199296 |
| Whipple Disease |
|
Myocarditis, Hepatomegaly, Pericarditis, Hyponatremia, Ataxia, Splenomegaly |
ORPHA:3452 |
| Snakebite Envenomation |
|
Hyponatremia |
ORPHA:449285 |
| Refractory Celiac Disease |
|
Hypocalcemia, Hypoproteinemia, Hypomagnesemia, Hypophosphatemia, Hypoalbuminemia |
ORPHA:398063 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Hypophosphatemia |
OMIM:612287 |
| Familial Hypoaldosteronism |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
ORPHA:427 |
| Chédiak-Higashi Syndrome |
|
Hypertriglyceridemia, Inability to walk, Hypopigmentation of hair, Tremor, Hypoproteinemia, Gait ... |
ORPHA:167 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypertriglyceridemia, Hypocalcemia, Pericardial effusion, Hyponatremia, Hypomagnesemia, Hypoalbum... |
OMIM:618183 |
| Fibrous Dysplasia Of Bone |
|
Abnormal femur morphology, Abnormal tibia morphology, Difficulty walking, Bowing of the long bone... |
ORPHA:249 |
| Japanese Encephalitis |
|
Pill-rolling tremor, Distal upper limb muscle weakness, Tremor, Elbow flexion contracture, Hypona... |
ORPHA:79139 |
| Familial Isolated Hyperparathyroidism |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:99879 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Hypophosphatemia |
OMIM:308990 |
| Generalized Pustular Psoriasis |
|
Hypocalcemia, Hyponatremia, Hypoalbuminemia, Elevated circulating C-reactive protein concentration |
ORPHA:247353 |
| Porphyria Variegata |
|
Proximal muscle weakness in upper limbs, Hyponatremia, Abnormal circulating porphyrin concentrati... |
ORPHA:79473 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Hypophosphatemia |
OMIM:612286 |
| Cholera |
|
Hypokalemia, Hypocalcemia, Hyponatremia, Abnormal blood ion concentration, Palmoplantar cutis laxa |
ORPHA:173 |
| Hemorrhagic Fever-Renal Syndrome |
|
Hyperkalemia, Elevated circulating creatinine concentration, Hyperphosphatemia |
ORPHA:340 |
| X-Linked Hypophosphatemia |
|
Genu valgum, Bowing of the long bones, Shortening of the talar neck, Trapezoidal distal femoral c... |
ORPHA:89936 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Increased circulating free fatty acid level, Hepatomegaly, Hypophosphatemia |
OMIM:605911 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Hyperammonemia, Cardiomegaly, D... |
OMIM:600649 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Increased circulating renin level, Hyponatremia, Hyperkalemia, Hirsutism |
ORPHA:90791 |
| Juvenile Nephropathic Cystinosis |
|
Abnormal long bone morphology, Hypokalemia, Hypocalcemia, Hypouricemia, Hyponatremia, Hypophospha... |
ORPHA:411634 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia |
OMIM:612089 |
| Fanconi Renotubular Syndrome 1 |
|
Hypophosphatemia, Hypokalemia |
OMIM:134600 |
| Fanconi-Bickel Syndrome |
|
Hypertriglyceridemia, Hypophosphatemia, Hepatomegaly, Bowing of the long bones |
ORPHA:2088 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hypochloremia, Hyponatremia, Hyperchloriduria, Hypokalemia |
OMIM:613090 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypouricemia, Hepatomegaly, Hypophosphatemia |
OMIM:616026 |
| Necrotizing Enterocolitis |
|
Hyponatremia, Abnormal heart morphology |
ORPHA:391673 |
| Adrenal Hypoplasia, Congenital |
|
Hyponatremia |
OMIM:300200 |
| Familial Dysautonomia |
|
Hyponatremia, Ataxia, Gait disturbance |
ORPHA:1764 |
| Familial Glucocorticoid Deficiency |
|
Hyperkalemia, Hyponatremia, Hypertrophic cardiomyopathy |
ORPHA:361 |
| Renal Hypoplasia, Bilateral |
|
Hyperkalemia, Hyponatremia |
ORPHA:97362 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Abnormal metaphysis morphology, Hepatomegaly, Hypocalcemia, Abnormality of hair texture, Tremor, ... |
ORPHA:667 |
| Fanconi-Bickel Syndrome |
|
Hepatomegaly, Increased serum bile acid concentration, Hypokalemia, Hypouricemia, Hyperbilirubine... |
OMIM:227810 |
| Cystinosis, Nephropathic |
|
Genu valgum, Hepatomegaly, Hypophosphatemic rickets, Hypopigmentation of hair, Reduced blood urea... |
OMIM:219800 |
| Rabin-Pappas Syndrome |
|
Highly arched eyebrow, Hyponatremia |
OMIM:620155 |
| Infant Botulism |
|
Hyponatremia |
ORPHA:178478 |
| Stiff Person Spectrum Disorder |
|
Difficulty walking, Exaggerated startle response, Falls |
ORPHA:3198 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Overlapping toe, Ataxia, Exaggerated startle response |
OMIM:618598 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Tip-toe gait, Limited elbow movement, Proximal muscle weakness in upper limbs, Distal upper limb ... |
ORPHA:268 |
| Acute Adrenal Insufficiency |
|
Hyperkalemia, Hyperuricemia, Increased circulating renin level, Hyponatremia, Hypercalcemia, Spar... |
ORPHA:95409 |
| Uremic Pruritus |
|
Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia |
ORPHA:94059 |
| Holoprosencephaly |
|
Highly arched eyebrow, Synophrys, Hyponatremia, Hand polydactyly, Dystonia, Thick eyebrow, Tetral... |
ORPHA:2162 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Truncal titubation, Clinodactyly of the 5th finger, Tremor, Exaggerated startle response, Gait at... |
OMIM:618056 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Alopecia totalis, Hyponatremia, Nail dystrophy, Alopecia |
ORPHA:293978 |
| Fanconi Renotubular Syndrome 2 |
|
Hypophosphatemia |
OMIM:613388 |
| Acute Intermittent Porphyria |
|
Hyponatremia, Proximal muscle weakness in upper limbs, Tremor |
ORPHA:79276 |
| Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Hypercalcemia, Hyperuricemia |
ORPHA:199299 |
| Dent Disease |
|
Enlargement of the wrists, Delayed epiphyseal ossification, Elevated circulating creatine kinase ... |
ORPHA:1652 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypermagnesemia, Hypercalcemia, Hypophosphatemia |
OMIM:600740 |
| Raine Syndrome |
|
Highly arched eyebrow, Bowing of the long bones, Micromelia, Long hallux, Hypophosphatemia, Brach... |
OMIM:259775 |
| Hereditary Fructose Intolerance |
|
Hypermagnesemia, Hepatomegaly, Hypophosphatemia, Hyperuricemia |
ORPHA:469 |
| Tay-Sachs Disease |
|
Limited elbow extension, Distal upper limb muscle weakness, Inability to walk, Increased serum be... |
ORPHA:845 |
| Lethal Acantholytic Erosive Disorder |
|
Absent hair, Clinodactyly of the 5th finger, Absent eyelashes, 4-5 finger syndactyly, Cardiomyopa... |
ORPHA:158687 |
| Shigellosis |
|
Myocarditis, Abnormal blood ion concentration, Hyponatremia |
ORPHA:810 |
| Thyrotoxic Periodic Paralysis |
|
Hyperkalemia, Transient hypophosphatemia, Tremor, Episodic hypokalemia, Hypomagnesemia, Mildly el... |
ORPHA:79102 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyperkalemia, Hyponatremia |
ORPHA:90790 |
| Liver Disease, Severe Congenital |
|
Left atrial enlargement, Nail dystrophy, Hepatomegaly, Increased circulating ferritin concentrati... |
OMIM:619991 |
| Adenohypophysitis |
|
Hyponatremia |
ORPHA:95512 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Elbow flexion contracture, Exaggerated startle response, Long eyelashes, Hand clenching, Hip cont... |
OMIM:617301 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hyponatremia, Ataxia, Hypokalemia |
OMIM:618426 |
| Sheehan Syndrome |
|
Breast hypoplasia, Hyponatremia, Sparse pubic hair, Sparse axillary hair |
ORPHA:91355 |
| Addison Disease |
|
Hyperkalemia, Hyperuricemia, Increased circulating renin level, Hyponatremia, Hypercalcemia, Spar... |
ORPHA:85138 |
| Panhypophysitis |
|
Hyponatremia |
ORPHA:95513 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Hypophosphatemic rickets, Enlargement of the wrists, Distal femoral bowing, Tibial bowing, Coxa v... |
ORPHA:289176 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Elevated circulating creatinine concentration, Hypokalemia, Unconjugated hyperbilir... |
ORPHA:90038 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Abnormal metaphysis morphology, Genu valgum, Hypokalemia, Sparse scalp hair, Hyponatremia, Hypoph... |
ORPHA:534 |
| Bartter Syndrome Type 4 |
|
Hypokalemia, Hypochloremia, Increased circulating renin level, Hyponatremia, Hypomagnesemia |
ORPHA:89938 |
| Pituitary Apoplexy |
|
Hyponatremia |
ORPHA:95613 |
| Gm1 Gangliosidosis Type 1 |
|
Broad long bone diaphyses, Hirsutism, Cardiomyopathy, Broad metacarpals, Exaggerated startle resp... |
ORPHA:79255 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Increased circulating renin level, Hyponatremia, Hyperkalemia, Abnormal circulating cholesterol c... |
ORPHA:168558 |
| Lysosomal Acid Lipase Deficiency |
|
Hypertriglyceridemia, Hyperkalemia, Hyponatremia, Hepatosplenomegaly, Hypercholesterolemia |
ORPHA:275761 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Increased circulating renin level, Hyponatremia, Hyperkalemia, Abnormal circulating cholesterol c... |
ORPHA:289548 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Inability to walk, Exaggerated startle response |
OMIM:609541 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hypochloremia, Hyponatremia, Hyperchloriduria, Hypokalemia |
OMIM:602522 |
| Pearson Syndrome |
|
Hepatomegaly, Hypokalemia, Hypocalcemia, Cardiomyopathy, Hyperalaninemia, Abnormal heart morpholo... |
ORPHA:699 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyperkalemia, Hyponatremia |
OMIM:201810 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Rocker bottom foot, Hyperextensibility of the finger joints, Single transverse palmar crease, Hir... |
ORPHA:521426 |
| Sandhoff Disease |
|
Hepatomegaly, Exaggerated startle response, Hepatosplenomegaly, Ataxia, Cardiomegaly |
OMIM:268800 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Inability to walk, Exaggerated startle response |
OMIM:620114 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Oculogyric crisis, Athetosis, Blepharospasm, Limb dystonia, Exaggerated startle resp... |
OMIM:608643 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Transposition of the great arteries, Elevated circulating creatine kinase concentration, Exaggera... |
OMIM:253800 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Rocker bottom foot, Hyperkalemia, Tarsal synostosis, Ulnar bowing, Decreased circulating renin le... |
OMIM:201750 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Difficulty walking, Exaggerated startle response |
ORPHA:320406 |
| Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Hyponatremia |
OMIM:618252 |
| Infantile Nephropathic Cystinosis |
|
Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia |
ORPHA:411629 |
| Mccune-Albright Syndrome |
|
Abnormal femur morphology, Hypophosphatemia |
ORPHA:562 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Myocarditis, Hyponatremia, Hyperkalemia, Hypocalcemia |
ORPHA:544482 |
| Combined Oxidative Phosphorylation Deficiency 58 |
|
Difficulty walking, Hyperalaninemia, Exaggerated startle response, Gait ataxia, Ataxia, Hyperprol... |
OMIM:620451 |
| Alport Syndrome 3A, Autosomal Dominant |
|
Hypophosphatemia, Azotemia |
OMIM:104200 |
| Primary Fanconi Renotubular Syndrome |
|
Bicarbonaturia, Hypophosphatemic rickets, Hypokalemia, Decreased circulating carnitine concentrat... |
ORPHA:3337 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Dystonia, Ataxia, Exaggerated startle response, Broad-based gait |
ORPHA:438216 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyperkalemia, Frontal balding, Hirsutism, Hypochloremia, Hyponatremia, Premature fusion of the ra... |
ORPHA:90794 |
| Familial Hypocalciuric Hypercalcemia |
|
Hypermagnesemia, Renal hypophosphatemia, Hypocalcemic seizures, Hypercalcemia |
ORPHA:405 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Rocker bottom foot, Single transverse palmar crease, Hirsutism, Exaggerated startle response, Pos... |
OMIM:617527 |
| Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Ataxia, Exaggerated startle response |
OMIM:616881 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Atrial septal defect, Patent foramen ovale, Tremor, Exaggerated startle response |
OMIM:620327 |
| Sandhoff Disease, Infantile Form |
|
Hepatosplenomegaly, Exaggerated startle response, Mitral valve prolapse |
ORPHA:309155 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Hyperlipidemia, Brachydactyly |
ORPHA:293987 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Enlarged kidney, Increased serum bile acid concentration, Hyponatremia, Hepatosplenomegaly, Splen... |
ORPHA:731 |
| Fructose Intolerance, Hereditary |
|
Bicarbonaturia, Hepatomegaly, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia |
OMIM:229600 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Inability to walk, Exaggerated startle response |
OMIM:617864 |
| Hyperekplexia 1 |
|
Exaggerated startle response, Hip dislocation |
OMIM:149400 |
| Gm2 Gangliosidosis, Ab Variant |
|
Dystonia, Exaggerated startle response |
ORPHA:309246 |
| Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
| Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
| Asparagine Synthetase Deficiency |
|
Large hands, Hypoasparaginemia, Tremor, Exaggerated startle response |
OMIM:615574 |
| Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:99880 |
| Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
| Parathyroid Carcinoma |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:143 |
| Stiff-Person Syndrome |
|
Opisthotonus, Exaggerated startle response |
OMIM:184850 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
High anterior hairline, Inability to walk, Broad-based gait, Patent foramen ovale, Exaggerated st... |
ORPHA:438213 |
| Gm2-Gangliosidosis, Ab Variant |
|
Dystonia, Exaggerated startle response |
OMIM:272750 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
| Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
| Developmental And Epileptic Encephalopathy 49 |
|
Thick eyebrow, Exaggerated startle response, Long eyelashes |
OMIM:617281 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response, Short humerus, Thick eyebrow, Short femur, Tapered finger |
OMIM:618367 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Short finger, Clinodactyly of the 5th finger, Abnormality of the palmar creases, Broad toe, Singl... |
OMIM:619522 |
| Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Punctate palmoplantar hyperkeratosis, Leukonychia |
OMIM:616295 |
