| Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia |
OMIM:618883 |
| Hypocalcemia, Autosomal Dominant 2 |
|
Hypocalcemia |
OMIM:615361 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia |
DECIPHER:16 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Insulin resistance, Hypercholesterolemia, Diabetes mellitus, Hypertriglyceridemia, Hypocalcemia |
OMIM:612526 |
| Hypomagnesemia 1, Intestinal |
|
Hypomagnesemia, Hypocalcemia |
OMIM:602014 |
| Pseudohypoparathyroidism Type 2 |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia |
ORPHA:94090 |
| Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypoglycemia, Hypertriglyceridemia |
OMIM:306000 |
| Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
| Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... |
ORPHA:79506 |
| 2P21 Microdeletion Syndrome |
|
Hypoglycemia, Hypocalcemia |
ORPHA:163693 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypomagnesemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia |
ORPHA:2239 |
| Myopathy, Tubular Aggregate, 2 |
|
Elevated circulating creatine kinase concentration, Hypocalcemia |
OMIM:615883 |
| Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hypoglycemia, Hypertriglyceridemia, Hyperlipidemia |
OMIM:232700 |
| Autoimmune Hypoparathyroidism |
|
Hypocalcemic tetany, Hypocalcemic seizures, Irritability, Hypocalcemia, Anxiety, Depression, Hype... |
ORPHA:36913 |
| Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Myelopathy, Spinal cord compression, Diabetes mellitus |
OMIM:602475 |
| Vitamin D-Dependent Rickets, Type 3 |
|
Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Hyperlipidemia, Glucose intolerance, Impaired glucose tolerance, Hypercholesterolemia, Hypertrigl... |
OMIM:610947 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia, Hypertriglyceridemia |
ORPHA:366 |
| Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
| Chylomicron Retention Disease |
|
Hypocholesterolemia, Hypotriglyceridemia, Steatorrhea, Hypoalbuminemia, Decreased LDL cholesterol... |
OMIM:246700 |
| Hypoparathyroidism, Familial Isolated, 1 |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:146200 |
| Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating gamma-aminobutyric acid concentration, Hypocalcemia |
OMIM:619658 |
| Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
| Pseudohypoparathyroidism Type 1B |
|
Hypocalcemic tetany, Hypocalcemic seizures, Irritability, Hypocalcemia, Anxiety, Depression, Hype... |
ORPHA:94089 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia |
OMIM:610021 |
| Blue Diaper Syndrome |
|
Hypercalcemia, Abnormal circulating tryptophan concentration |
OMIM:211000 |
| Progressive Familial Intrahepatic Cholestasis |
|
Hypocalcemia |
ORPHA:172 |
| Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hypomagnesemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia |
OMIM:601198 |
| Hypoglycemia, Leucine-Induced |
|
Hyperinsulinemic hypoglycemia, Irritability, Hypoglycemia |
OMIM:240800 |
| Timothy Syndrome |
|
Hypoglycemia, Hypocalcemia |
OMIM:601005 |
| Riboflavin Deficiency |
|
Hypoglycemia, Elevated circulating acylcarnitine concentration |
OMIM:615026 |
| Alpha-Heavy Chain Disease |
|
Hypocalcemia |
ORPHA:100025 |
| Blue Diaper Syndrome |
|
Recurrent hypoglycemia, Hypercalcemia, Increased proinsulin:insulin ratio, Hyperphosphatemia |
ORPHA:94086 |
| Hypotonia-Cystinuria Syndrome |
|
Neonatal hypoglycemia, Hypocalcemia |
OMIM:606407 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia |
ORPHA:93324 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypocholesterolemia |
OMIM:610539 |
| Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:601820 |
| Neonatal Hemochromatosis |
|
Increased serum iron, Increased circulating ferritin concentration, Hypoglycemia |
ORPHA:446 |
| Cholera |
|
Hyponatremia, Hypoglycemia, Hypokalemia, Irritability, Hypocalcemia, Abnormal blood ion concentra... |
ORPHA:173 |
| Ring Chromosome 10 Syndrome |
|
Hypocalcemia |
ORPHA:1438 |
| Squalene Synthase Deficiency |
|
Hypocholesterolemia, Increased circulating farnesol concentration, Irritability, Elevated circula... |
OMIM:618156 |
| Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Hypocholesterolemia, Decreased LDL cholesterol concentration |
OMIM:616834 |
| Oculocerebrodental Syndrome |
|
Hypercalcemia, Hypocalcemia |
ORPHA:557003 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:89937 |
| Autosomal Dominant Hypocalcemia |
|
Hypomagnesemia, Emotional lability, Hypocalcemia, Anxiety, Depression, Hyperphosphatemia |
ORPHA:428 |
| Renal Tubular Acidosis, Distal, 1 |
|
Hypocalcemia |
OMIM:179800 |
| Refractory Celiac Disease |
|
Hypoproteinemia, Hypoalbuminemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia |
ORPHA:398063 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia |
OMIM:241410 |
| Familial Isolated Hypoparathyroidism |
|
Hypocalcemia |
ORPHA:2238 |
| Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
| Hyperparathyroidism 4 |
|
Hypercalcemia |
OMIM:617343 |
| Hypercalcemia, Infantile, 2 |
|
Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
| Hypervitaminosis A, Susceptibility To |
|
Hypercalcemia |
OMIM:240150 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypomagnesemia, Hypokalemia, Hypocalcemia |
OMIM:175500 |
| Albers-Schönberg Osteopetrosis |
|
Hypocalcemia |
ORPHA:53 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypoproteinemia, Hypoketotic hypoglycemia, Elevated circulating creatine kinase concentration, In... |
ORPHA:26793 |
| Kenny-Caffey Syndrome, Type 1 |
|
Hypomagnesemia, Hypocalcemia |
OMIM:244460 |
| Pseudohypoparathyroidism Type 1C |
|
Hypocalcemic tetany, Calcinosis, Hypocalcemic seizures, Irritability, Hypocalcemia, Anxiety, Depr... |
ORPHA:79444 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Irritability, Hypophosphatemia, Hypocalcemic seizures, Hypocalcemia |
ORPHA:289157 |
| Celiac Disease, Susceptibility To, 1 |
|
Steatorrhea, Type I diabetes mellitus, Hypocalcemia, Anxiety, Depression |
OMIM:212750 |
| Granulomatous Slack Skin |
|
Hypercalcemia |
ORPHA:33111 |
| Colchicine Poisoning |
|
Hyponatremia, Hypokalemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia, Abnormal blood ion con... |
ORPHA:31824 |
| Genetic Recurrent Myoglobinuria |
|
Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia |
ORPHA:99845 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Hyperlipidemia, Glycosuria, Ketotic hypoglycemia, Irritability, Postprandial hyperglycemia |
ORPHA:2089 |
| Pseudohypoparathyroidism Type 1A |
|
Hypocalcemic tetany, Calcinosis, Hypocalcemic seizures, Spinal cord compression, Irritability, Hy... |
ORPHA:79443 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypoalbuminemia, Hypomagnesemia, Hypertriglyceridemia, Hypocalcemia |
OMIM:618183 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Elevated circulating creatine kinase concentration, Hypocholesterolemia, Abetalipoproteinemia, Ty... |
ORPHA:96180 |
| Hyperlipidemia, Familial Combined, 3 |
|
Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration... |
OMIM:144250 |
| X-Linked Agammaglobulinemia |
|
Hypocalcemia |
ORPHA:47 |
| Rhabdoid Tumor |
|
Hypercalcemia, Irritability |
ORPHA:69077 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hypoglycemia |
OMIM:261650 |
| Hypophosphatasia |
|
Hypercalcemia, Irritability |
ORPHA:436 |
| Neuroleptic Malignant Syndrome |
|
Hyperkalemia, Hyponatremia, Hypernatremia, Elevated circulating creatine kinase concentration, Hy... |
ORPHA:94093 |
| Peroxisome Biogenesis Disorder 3B |
|
Hypocholesterolemia, Steatorrhea |
OMIM:266510 |
| Dahlberg-Borer-Newcomer Syndrome |
|
Hypocalcemia |
ORPHA:1563 |
| Uremic Pruritus |
|
Hypercalcemia, Increased blood urea nitrogen, Renal hypophosphatemia, Hypermagnesemia, Depression |
ORPHA:94059 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Hypocalcemia |
OMIM:618476 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Hypoketotic hypoglycemia, Hypocalcemia |
ORPHA:746 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Hypocalcemia |
OMIM:607143 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:93160 |
| 3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Abnormal circulating leucine concentration, Hypoglycemia, Hyperammonemia |
ORPHA:6 |
| Primary Intestinal Lymphangiectasia |
|
Hypomagnesemia, Hypoproteinemia, Hypocalcemia, Hypoalbuminemia |
ORPHA:90362 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hypoglycemia, Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
| Juvenile Nephropathic Cystinosis |
|
Hypouricemia, Hyponatremia, Hypocalcemic tetany, Hypokalemia, Elevated circulating creatinine con... |
ORPHA:411634 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hyperbilirubinemia, Hypocalcemia |
OMIM:259720 |
| Oculoskeletodental Syndrome |
|
Hypercalcemia, Hypocalcemia |
OMIM:618440 |
| Familial Isolated Hyperparathyroidism |
|
Hypercalcemia, Infantile hypercalcemia, Hypophosphatemia |
ORPHA:99879 |
| Small Cell Carcinoma Of The Bladder |
|
Hypercalcemia |
ORPHA:284400 |
| Potocki-Lupski Syndrome |
|
Hypocholesterolemia |
OMIM:610883 |
| Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Hypercalcemia |
ORPHA:2668 |
| Diffuse Neonatal Hemangiomatosis |
|
Hypercalcemia |
ORPHA:2123 |
| Sanjad-Sakati Syndrome |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:2323 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Hypoglycemia, Hyperalaninemia, Hyperammonemia, Elevated circulating sebacic acid concentration, E... |
OMIM:615160 |
| Oncogenic Osteomalacia |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:352540 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Hypocalcemia |
OMIM:259700 |
| Glucocorticoid Resistance, Generalized |
|
Anxiety, Hypoglycemia |
OMIM:615962 |
| Hemochromatosis, Neonatal |
|
Increased serum iron, Increased circulating ferritin concentration, Abnormality of iron homeostas... |
OMIM:231100 |
| Visceral Steatosis, Congenital |
|
Hypoglycemia, Hypocalcemia |
OMIM:228100 |
| Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hypercalcemia |
OMIM:239199 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Hypocholesterolemia, Steatorrhea, Hyperbilirubinemia |
OMIM:607765 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hypoproteinemia, Hypocalcemia |
OMIM:235255 |
| Non-Functioning Paraganglioma |
|
Panic attack, Hypercalcemia |
ORPHA:94080 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyperkalemia, Hyponatremia, Hypoglycemia |
OMIM:614736 |
| Tubular Renal Disease-Cardiomyopathy Syndrome |
|
Hypomagnesemia, Hypocalcemic tetany, Hyperaldosteronism, Hypocalcemia |
ORPHA:73224 |
| Gitelman Syndrome |
|
Maternal diabetes, Type II diabetes mellitus, Hypokalemia, Insulin resistance, Primary hyperaldos... |
ORPHA:358 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypercalcemia |
OMIM:614732 |
| Double Outlet Right Ventricle |
|
Hypocalcemia |
ORPHA:3426 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Decreased prealbumin level, Hypocalcemia, Hypomagnesemia, Type I diabetes mellitus, Hypoalbuminem... |
ORPHA:37042 |
| Propionic Acidemia |
|
Hypoglycemia, Hyperammonemia |
ORPHA:35 |
| Gracile Bone Dysplasia |
|
Hypocalcemia |
OMIM:602361 |
| Bacterial Toxic-Shock Syndrome |
|
Elevated circulating creatine kinase concentration, Elevated circulating creatinine concentration... |
ORPHA:36234 |
| Ethylene Glycol Poisoning |
|
Hyperkalemia, Hypocalcemia, Euphoria |
ORPHA:31826 |
| Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia, Hyperammonemia |
ORPHA:664 |
| Chylomicron Retention Disease |
|
Hypocholesterolemia, Steatorrhea |
ORPHA:71 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypermagnesemia, Hypercalcemia, Depression, Hypophosphatemia |
OMIM:600740 |
| Hypoadrenocorticism, Familial |
|
Hyperkalemia, Hyponatremia, Hypoglycemia |
OMIM:240200 |
| Velocardiofacial Syndrome |
|
Mood swings, Aggressive behavior, Hypocalcemia |
OMIM:192430 |
| Keratoderma Hereditarium Mutilans |
|
Self-injurious behavior, Abnormality of the spinal cord |
ORPHA:494 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Fasting hypoglycemia, Hypoglycemia, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis, H... |
OMIM:262190 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Diabetes mellitus, Hypocalcemic seizures, Hypocalcemia |
ORPHA:2237 |
| Hypophosphatasia, Infantile |
|
Hypercalcemia, Irritability, Elevated plasma pyrophosphate |
OMIM:241500 |
| Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia |
OMIM:127000 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hypoproteinemia, Hypocalcemia |
ORPHA:1655 |
| Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Hyperphosphatemia |
OMIM:612462 |
| Pearson Syndrome |
|
Hypokalemia, Hypophosphatemia, Glycosuria, Hyperalaninemia, Hypomagnesemia, Steatorrhea, Diabetes... |
ORPHA:699 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypercalcemia, Hypophosphatemia, Hypophosphatemic rickets |
OMIM:612089 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hypocholesterolemia |
OMIM:618810 |
| Hyperparathyroidism 2 With Jaw Tumors |
|
Hypercalcemia |
OMIM:145001 |
| Alzheimer Disease, Familial, 1 |
|
Long-tract signs, Decreased circulating GABA concentration |
OMIM:104300 |
| Pseudohypoparathyroidism, Type Ia |
|
Hypocalcemic tetany, Hyperphosphatemia |
OMIM:103580 |
| Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145980 |
| Cartilage-Hair Hypoplasia |
|
Spinal dysraphism, Hypocalcemia |
ORPHA:175 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Hypercalcemia, Elevated creatine kinase after exercise |
ORPHA:284426 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hypercalcemia, Hyperphosphatemia |
OMIM:617994 |
| Tangier Disease |
|
Hypocholesterolemia, Syringomyelia, Hypertriglyceridemia |
ORPHA:31150 |
| Hypercalcemia, Infantile, 1 |
|
Infantile hypercalcemia |
OMIM:143880 |
| Alg12-Cdg |
|
Hypocholesterolemia, Hyponatremia, Recurrent hypoglycemia, Hypoalbuminemia |
ORPHA:79324 |
| Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145981 |
| Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Hypercalcemia, Hypoglycemia, Hyperuricemia, Type I diabetes mellitus, Decreased cir... |
ORPHA:199299 |
| 22Q11.2 Deletion Syndrome |
|
Meningocele, Occipital myelomeningocele, Spina bifida, Hypocalcemia, Anxiety, Depression, Bipolar... |
ORPHA:567 |
| Igg4-Related Thyroid Disease |
|
Hypocalcemia |
ORPHA:64744 |
| Glucose-Galactose Malabsorption |
|
Hypercalcemia, Hypernatremia |
ORPHA:35710 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Panic attack, Hypercalcemia, Episodic paroxysmal anxiety |
ORPHA:276621 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hyperkalemia, Hyponatremia, Diabetes mellitus, Hypocalcemia |
ORPHA:544482 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Hypocholesterolemia, Hypoalbuminemia |
OMIM:212065 |
| Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hypocholesterolemia, Abnormal circulating apolipoprotein... |
ORPHA:14 |
| Infantile Myofibromatosis |
|
Hypercalcemia |
ORPHA:2591 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Elevated circulating creatine kinase concentration, Hypoglycemia, Decreased circulating cortisol ... |
OMIM:618838 |
| Acute Adrenal Insufficiency |
|
Hyperkalemia, Hypercalcemia, Hyponatremia, Hypoglycemia, Hyperuricemia, Increased circulating ren... |
ORPHA:95409 |
| Acrodysostosis With Multiple Hormone Resistance |
|
Hyperphosphatemia, Diabetes mellitus, Hypocalcemia |
ORPHA:280651 |
| Familial Hypocalciuric Hypercalcemia |
|
Hypercalcemia, Hypocalcemic seizures, Infantile hypercalcemia, Renal hypophosphatemia, Hypermagne... |
ORPHA:405 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hypoglycemia, Unconjugated hyperbilirubinemia, Hypocalcemia, Hypoalbuminemia |
OMIM:613658 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Hypercalcemia |
OMIM:171420 |
| Craniofacioskeletal Syndrome |
|
Hypocalcemia |
OMIM:300712 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hyperbilirubinemia, Hypocalcemia |
ORPHA:163979 |
| Thymic Neuroendocrine Tumor |
|
Hypercalcemia, Increased circulating cortisol level |
ORPHA:97289 |
| Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Abnormality of the spinal cord |
ORPHA:139578 |
| Hepatocellular Carcinoma |
|
Hyponatremia, Hypercalcemia, Hypoglycemia, Type II diabetes mellitus, Hypokalemia, Hyperbilirubin... |
ORPHA:88673 |
| Glycogen Storage Disease Ixc |
|
Fasting hypoglycemia, Hypoglycemia, Hypertriglyceridemia |
OMIM:613027 |
| Multiple Endocrine Neoplasia, Type I |
|
Hypercalcemia, Increased circulating cortisol level, Hypoglycemia |
OMIM:131100 |
| Hyperparathyroidism, Neonatal Severe |
|
Hypercalcemia, Calcinosis, Hypophosphatemia |
OMIM:239200 |
| Exercise-Induced Malignant Hyperthermia |
|
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia |
ORPHA:466650 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Hypercalcemia, Aggressive behavior, Self-mutilation |
ORPHA:476126 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Elevated circulating creatine kinase concentration, Hypocalcemia |
ORPHA:2785 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Irritability, Hypophosphatemia, Hypocalcemic seizures |
OMIM:264700 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypercalcemia, Hypophosphatemia |
OMIM:156400 |
| Cranioectodermal Dysplasia 1 |
|
Hypocalcemia |
OMIM:218330 |
| Addison Disease |
|
Hyperkalemia, Hypercalcemia, Hyponatremia, Hypoglycemia, Hyperuricemia, Type I diabetes mellitus,... |
ORPHA:85138 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Irritability, Hypophosphatemia, Hypocalcemic seizures |
OMIM:277440 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Panic attack, Hypercalcemia, Episodic paroxysmal anxiety |
ORPHA:29072 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypouricemia, Hypoglycemia, Diabetes mellitus, Glycosuria |
OMIM:616026 |
| Multiple Myeloma |
|
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia, Spinal cord compr... |
ORPHA:29073 |
| Secondary Intestinal Lymphangiectasia |
|
Decreased prealbumin level, Reduced circulating transferrin concentration, Hypocholesterolemia, S... |
ORPHA:90363 |
| Kaufman Oculocerebrofacial Syndrome |
|
Hypocholesterolemia |
OMIM:244450 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Hypercalcemia, Increased blood urea nitrogen |
ORPHA:251004 |
| Hennekam Syndrome |
|
Hypocalcemia |
ORPHA:2136 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Abnormality of the spinal cord |
ORPHA:99947 |
| Monosomy 13Q34 |
|
Infantile hypercalcemia, Insulin resistance |
ORPHA:96168 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:667 |
| Glucagonoma |
|
Hypercalcemia, Increased circulating cortisol level, Steatorrhea, Diabetes mellitus, Depression |
ORPHA:97280 |
| Fibrous Dysplasia Of Bone |
|
Hypercalcemia, Increased circulating cortisol level, Hypophosphatemia, Diabetes mellitus |
ORPHA:249 |
| Smith-Lemli-Opitz Syndrome |
|
Hypocholesterolemia, Aggressive behavior, Self-mutilation, Elevated 7-dehydrocholesterol |
OMIM:270400 |
| Digeorge Syndrome |
|
Hypocalcemia, Bipolar affective disorder |
OMIM:188400 |
| Spinal Arteriovenous Metameric Syndrome |
|
Spinal arteriovenous malformation, Abnormality of the spinal cord |
ORPHA:53721 |
| Bartter Syndrome, Type 1, Antenatal |
|
Hypercalcemia, Hypokalemia, Increased serum prostaglandin E2, Hypochloremia, Hypomagnesemia, Hype... |
OMIM:601678 |
| Vipoma |
|
Hypercalcemia, Increased circulating cortisol level, Diabetes mellitus, Hypokalemia |
ORPHA:97282 |
| Multiple Endocrine Neoplasia Type 4 |
|
Hypercalcemia, Hyperinsulinemic hypoglycemia, Increased circulating cortisol level, Fasting hyper... |
ORPHA:276152 |
| Mastocytosis |
|
Hypercalcemia |
ORPHA:98292 |
| Somatostatinoma |
|
Hypercalcemia, Increased circulating cortisol level, Steatorrhea, Diabetes mellitus |
ORPHA:97283 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:93325 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hypomagnesemia, Low frustration tolerance, Hypocalcemia, Impulsivity |
OMIM:619503 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypercalcemia, Hypertriglyceridemia |
ORPHA:369837 |
| Solitary Bone Cyst |
|
Abnormality of the spinal cord |
ORPHA:83468 |
| Zollinger-Ellison Syndrome |
|
Hypercalcemia, Increased glucagon level, Increased circulating cortisol level |
ORPHA:913 |
| Pheochromocytoma |
|
Hypercalcemia |
OMIM:171300 |
| Thymic Aplasia |
|
Hypocalcemic tetany |
ORPHA:83471 |
| Johanson-Blizzard Syndrome |
|
Increased VLDL cholesterol concentration, Diabetes mellitus, Hypocalcemia |
OMIM:243800 |
| Charge Syndrome |
|
Self-mutilation, Hypocalcemia |
OMIM:214800 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Hypercalcemia, Infantile hypercalcemia, Hypophosphatemia |
ORPHA:99880 |
| X-Linked Cerebral Adrenoleukodystrophy |
|
Abnormal circulating fatty-acid concentration, Abnormality of the spinal cord, Myelopathy, Decrea... |
ORPHA:139396 |
| Parathyroid Carcinoma |
|
Hypercalcemia, Infantile hypercalcemia, Hypophosphatemia |
ORPHA:143 |
| Multiple Endocrine Neoplasia Type 2 |
|
Anxiety, Hypercalcemia |
ORPHA:653 |
| Acute Disseminated Encephalomyelitis |
|
Aggressive behavior, Irritability, Myelitis, Abnormality of the spinal cord |
ORPHA:83597 |
| Ppoma |
|
Hypercalcemia, Increased circulating cortisol level |
ORPHA:97278 |
| Adrenomyeloneuropathy |
|
Abnormal circulating fatty-acid concentration, Abnormality of the spinal cord, Dorsal column dege... |
ORPHA:139399 |
| Grfoma |
|
Hypercalcemia, Increased circulating cortisol level |
ORPHA:97261 |
| Multiple Endocrine Neoplasia Type 1 |
|
Hypercalcemia, Increased circulating cortisol level, Depression, Primary hypercortisolism |
ORPHA:652 |
| Hypophosphatemic Rickets |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:437 |
| Williams Syndrome |
|
Hypercalcemia, Type II diabetes mellitus, Abnormal circulating lipid concentration, Elevated circ... |
ORPHA:904 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Abnormality of the spinal cord |
ORPHA:88628 |
| Williams-Beuren Syndrome |
|
Anxiety, Glucose intolerance, Hypercalcemia, Diabetes mellitus |
OMIM:194050 |
| Sotos Syndrome |
|
Anxiety, Aggressive behavior, Hypercalcemia, Neonatal hypoglycemia |
ORPHA:821 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Hypocalcemic seizures |
OMIM:612301 |
| Amoebiasis Due To Free-Living Amoebae |
|
Abnormality of the spinal cord, Irritability |
ORPHA:68 |
| Sarcoidosis |
|
Hypercalcemia |
ORPHA:797 |
| Superficial Siderosis |
|
Abnormality of the spinal cord, Atrophy of the spinal cord |
ORPHA:247245 |
| Primary Sjögren Syndrome |
|
Anxiety, Abnormality of the spinal cord, Depression |
ORPHA:289390 |
| Limb Body Wall Complex |
|
Abnormality of the spinal cord, Spina bifida, Myelomeningocele, Spina bifida occulta |
ORPHA:2369 |
| Mosaic Trisomy 20 |
|
Abnormality of the spinal cord |
ORPHA:1724 |
| Tetrasomy 9P |
|
Abnormality of the spinal cord, Inappropriate behavior |
ORPHA:3310 |
