Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis |
OMIM:613370 |
Blue Diaper Syndrome |
|
Abnormal circulating tryptophan concentration, Hypercalcemia |
OMIM:211000 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
OMIM:618883 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia |
DECIPHER:16 |
Blue Diaper Syndrome |
|
Hypercalcemia, Increased proinsulin:insulin ratio, Hyperphosphatemia, Recurrent hypoglycemia |
ORPHA:94086 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet... |
OMIM:618858 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Hyperglycemia, Transient neonatal diabetes mellitus, Reduced C-peptide level, Maternal diabetes, ... |
OMIM:610582 |
Hyperparathyroidism 4 |
|
Hypercalcemia |
OMIM:617343 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Maturity-onset diabetes of the young, Hyperglycemia, Reduced C-peptide level, Maternal diabetes, ... |
OMIM:616329 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet... |
OMIM:606176 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
Hypercalcemia, Infantile, 2 |
|
Hypophosphatemia, Hypercalcemia |
OMIM:616963 |
Granulomatous Slack Skin |
|
Hypercalcemia |
ORPHA:33111 |
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies |
|
Hyperglycemia, Glucose intolerance |
OMIM:307500 |
Small Cell Carcinoma Of The Bladder |
|
Hypercalcemia |
ORPHA:284400 |
Pseudohypoparathyroidism Type 2 |
|
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
ORPHA:94090 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia |
ORPHA:2239 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Hypercalcemia |
ORPHA:2668 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Hyperglycemia |
OMIM:609812 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hypercalcemia |
OMIM:239199 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Insulin resistance, Hypocalcemia, Hypercholesterolemia, Hypertriglyceridemia, Diabetes mellitus |
OMIM:612526 |
Diffuse Neonatal Hemangiomatosis |
|
Hypercalcemia |
ORPHA:2123 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes mellitus |
OMIM:222100 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Hyperglycemia, Type I diabetes mellitus, Reduced C-peptide level |
OMIM:618856 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
Hypercalcemia, Infantile, 1 |
|
Hypercalcemia |
OMIM:143880 |
Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration |
OMIM:615883 |
2P21 Microdeletion Syndrome |
|
Hypocalcemia, Hypoglycemia |
ORPHA:163693 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145980 |
Familial Isolated Hyperparathyroidism |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:99879 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
OMIM:146200 |
Transient Neonatal Diabetes Mellitus |
|
Maturity-onset diabetes of the young, Hyperglycemia, Transient neonatal diabetes mellitus, Matern... |
ORPHA:99886 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypercalcemia |
OMIM:614732 |
Hypophosphatasia |
|
Hypercalcemia |
ORPHA:436 |
Rhabdoid Tumor |
|
Hypercalcemia |
ORPHA:69077 |
Uremic Pruritus |
|
Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145981 |
Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
Oculoskeletodental Syndrome |
|
Hypercalcemia, Hypocalcemia |
ORPHA:557003 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hypercalcemia |
OMIM:145001 |
Vitamin D-Dependent Rickets, Type 3 |
|
Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia |
OMIM:612089 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level |
OMIM:601198 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Hypercalcemia, Elevated creatine kinase after exercise |
ORPHA:284426 |
Non-Functioning Paraganglioma |
|
Hypercalcemia |
ORPHA:94080 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperglycemia, Hyp... |
OMIM:262190 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration |
OMIM:619658 |
Glucose-Galactose Malabsorption |
|
Hypercalcemia, Hypernatremia |
ORPHA:35710 |
Lipodystrophy, Familial Partial, Type 3 |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... |
OMIM:604367 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Hypercalcemia |
OMIM:171420 |
Hypophosphatasia, Infantile |
|
Elevated plasma pyrophosphate, Hypercalcemia |
OMIM:241500 |
Infantile Myofibromatosis |
|
Hypercalcemia |
ORPHA:2591 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Hypercalcemia, Hyperphosphatemia, Calcinosis |
OMIM:211900 |
Progressive Familial Intrahepatic Cholestasis |
|
Hypocalcemia |
ORPHA:172 |
Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
Late-Onset Isolated Acth Deficiency |
|
Type I diabetes mellitus, Hypoglycemia, Hyperuricemia, Hyponatremia, Hypercalcemia |
ORPHA:199299 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypermagnesemia, Hypophosphatemia, Hypercalcemia |
OMIM:600740 |
Mody |
|
Abnormal oral glucose tolerance, Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, ... |
ORPHA:552 |
Monosomy 13Q34 |
|
Insulin resistance, Hypercalcemia |
ORPHA:96168 |
Alpha-Heavy Chain Disease |
|
Hypocalcemia |
ORPHA:100025 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperglycemia, Hyperlipidemia, Mildly elevated creatine kinase |
OMIM:604484 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:618618 |
Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:520000 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hypercalcemia, Hyperphosphatemia |
OMIM:617994 |
Oculoskeletodental Syndrome |
|
Hypercalcemia, Hypocalcemia |
OMIM:618440 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria |
ORPHA:2089 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Hyperglycemia, Type I diabetes mellitus, Glycosuria |
OMIM:618857 |
Hyperparathyroidism, Neonatal Severe |
|
Hypophosphatemia, Hypercalcemia, Calcinosis |
OMIM:239200 |
Hypokalemic Periodic Paralysis |
|
Episodic hypokalemia, Mildly elevated creatine kinase, Postprandial hyperglycemia |
ORPHA:681 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hyperglycemia, Insulin-resistant diabetes mellitus, Hypertriglyceridemia |
OMIM:608600 |
Thymic Neuroendocrine Tumor |
|
Hypercalcemia |
ORPHA:97289 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypophosphatemia, Hypercalcemia |
OMIM:156400 |
Spinal Cord Injury |
|
Hypercalcemia |
ORPHA:90058 |
Acute Adrenal Insufficiency |
|
Hypoglycemia, Hyperuricemia, Hyponatremia, Hyperkalemia, Hypercalcemia, Increased circulating ren... |
ORPHA:95409 |
Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Hypermagnesemia, Hypocalcemic seizures, Hypercalcemia |
ORPHA:405 |
Paget Disease Of Bone 2, Early-Onset |
|
Hypercalcemia |
OMIM:602080 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia |
ORPHA:93324 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Hypercalcemia, Increased blood urea nitrogen |
ORPHA:251004 |
Autoimmune Hypoparathyroidism |
|
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
ORPHA:36913 |
Multiple Endocrine Neoplasia, Type I |
|
Hypercalcemia, Hypoglycemia |
OMIM:131100 |
Hypotonia-Cystinuria Syndrome |
|
Neonatal hypoglycemia, Hypocalcemia |
OMIM:606407 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypercalcemia |
ORPHA:276621 |
Addison Disease |
|
Type I diabetes mellitus, Hypoglycemia, Hyperuricemia, Hyponatremia, Hyperkalemia, Hypercalcemia,... |
ORPHA:85138 |
Timothy Syndrome |
|
Hypocalcemia, Hypoglycemia |
OMIM:601005 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Hypercalcemia |
ORPHA:476126 |
Fibrous Dysplasia Of Bone |
|
Hypophosphatemia, Hypercalcemia, Diabetes mellitus |
ORPHA:249 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:89937 |
Pheochromocytoma |
|
Hypercalcemia |
OMIM:171300 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hyperglycemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hypercholester... |
OMIM:615812 |
Pseudohypoparathyroidism Type 1B |
|
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
ORPHA:94089 |
Refractory Celiac Disease |
|
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia |
ORPHA:398063 |
Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia |
OMIM:612462 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Hypercalcemia |
ORPHA:29072 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hypokalemia, Hypercalcemia, H... |
OMIM:601678 |
Cole Disease |
|
Abnormal blood phosphate concentration, Hyperglycemia |
OMIM:615522 |
Familial Isolated Hypoparathyroidism |
|
Hypocalcemia |
ORPHA:2238 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypercalcemia, Hypertriglyceridemia |
ORPHA:369837 |
Ring Chromosome 10 Syndrome |
|
Hypocalcemia |
ORPHA:1438 |
Insulin-Resistance Syndrome Type B |
|
Hypoalbuminemia, Postprandial hyperglycemia, Insulin resistance, Hypotriglyceridemia, Glycosuria,... |
ORPHA:2298 |
Multiple Myeloma |
|
Elevated circulating creatinine concentration, Hyperproteinemia, Hypercalcemia |
ORPHA:29073 |
Cholera |
|
Hypoglycemia, Hypocalcemia, Hypokalemia, Hyponatremia, Abnormal blood ion concentration |
ORPHA:173 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:175500 |
Vipoma |
|
Hypokalemia, Hypercalcemia, Diabetes mellitus |
ORPHA:97282 |
Colchicine Poisoning |
|
Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal blood ion con... |
ORPHA:31824 |
Multiple Endocrine Neoplasia Type 4 |
|
Increased glucagon level, Hypercalcemia, Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia |
ORPHA:276152 |
Genetic Recurrent Myoglobinuria |
|
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase |
ORPHA:99845 |
Kenny-Caffey Syndrome, Type 1 |
|
Hypocalcemia, Hypomagnesemia |
OMIM:244460 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Hypoketotic hypoglycemia, Hyperammonemia, Hypocalcem... |
ORPHA:26793 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
OMIM:241410 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Hypophosphatemia, Hypocalcemia |
OMIM:600081 |
Somatostatinoma |
|
Hypercalcemia, Diabetes mellitus |
ORPHA:97283 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia |
OMIM:264700 |
Zollinger-Ellison Syndrome |
|
Hypercalcemia, Increased glucagon level |
ORPHA:913 |
Albers-Schönberg Osteopetrosis |
|
Hypocalcemia |
ORPHA:53 |
Glucagonoma |
|
Hypercalcemia, Diabetes mellitus |
ORPHA:97280 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:99880 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Hypocalcemia, Hypoglycemia |
OMIM:607143 |
Fanconi-Bickel Syndrome |
|
Postprandial hyperglycemia, Glycosuria, Hypophosphatemia, Fasting hypoglycemia, Hypertriglyceride... |
ORPHA:2088 |
Parathyroid Carcinoma |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:143 |
Primary Intestinal Lymphangiectasia |
|
Hypoalbuminemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia |
ORPHA:90362 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Hyperglycemia |
OMIM:619737 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Hyperglycemia, Hyperammonemia, Hypoglycemia |
OMIM:615453 |
Juvenile Nephropathic Cystinosis |
|
Hypouricemia, Glycosuria, Elevated circulating creatinine concentration, Hypocalcemic tetany, Hyp... |
ORPHA:411634 |
X-Linked Agammaglobulinemia |
|
Hypocalcemia |
ORPHA:47 |
Dahlberg-Borer-Newcomer Syndrome |
|
Hypocalcemia |
ORPHA:1563 |
Generalized Pustular Psoriasis |
|
Elevated circulating C-reactive protein concentration, Hyponatremia, Hypocalcemia, Hypoalbuminemia |
ORPHA:247353 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:93160 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia |
OMIM:618183 |
Ppoma |
|
Hypercalcemia |
ORPHA:97278 |
Donohue Syndrome |
|
Postprandial hyperglycemia, Hyperglycemia, Hyperinsulinemia, Fasting hypoglycemia |
OMIM:246200 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoketotic hypoglycemia, Hypocalcemia |
ORPHA:746 |
Neuroleptic Malignant Syndrome |
|
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hyperuricemia, Elevated circulating creatine kin... |
ORPHA:94093 |
Fanconi-Bickel Syndrome |
|
Hypouricemia, Postprandial hyperglycemia, Glycosuria, Hyperbilirubinemia, Increased serum bile ac... |
OMIM:227810 |
Greig Cephalopolysyndactyly Syndrome |
|
Hyperglycemia |
OMIM:175700 |
Bardet-Biedl Syndrome 9 |
|
Hyperglycemia |
OMIM:615986 |
Oncogenic Osteomalacia |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:352540 |
Grfoma |
|
Hypercalcemia |
ORPHA:97261 |
Multiple Endocrine Neoplasia Type 2 |
|
Hypercalcemia |
ORPHA:653 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hypoalbuminemia, Type I diabetes mellitus, Hypomagnesemia, Hypocalcemia, Decreased circulating pr... |
ORPHA:37042 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Increased circulating ferritin concentration, Hyperglycemia, Abnormality of iron homeostasis, Ele... |
ORPHA:465508 |
Gracile Bone Dysplasia |
|
Hypocalcemia |
OMIM:602361 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Glucose intolerance, Hyperl... |
OMIM:608612 |
Sanjad-Sakati Syndrome |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:2323 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia |
ORPHA:289157 |
Celiac Disease, Susceptibility To, 1 |
|
Type I diabetes mellitus, Hypocalcemia |
OMIM:212750 |
Kenny-Caffey Syndrome, Type 2 |
|
Hyperphosphatemia, Hypocalcemia, Transient hypophosphatemia |
OMIM:127000 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hypocalcemia |
OMIM:259700 |
Necrotizing Enterocolitis |
|
Hyponatremia, Hyperglycemia, Abnormal glucose homeostasis |
ORPHA:391673 |
Gitelman Syndrome |
|
Insulin resistance, Hypermagnesemia, Type I diabetes mellitus, Hypomagnesemia, Glucose intoleranc... |
ORPHA:358 |
Williams Syndrome |
|
Type II diabetes mellitus, Hypercalcemia, Abnormal circulating lipid concentration, Elevated circ... |
ORPHA:904 |
Autosomal Dominant Hypocalcemia |
|
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia |
ORPHA:428 |
Pyruvate Carboxylase Deficiency |
|
Neonatal hyperbilirubinemia, Hypoglycemia, Hyperglycemia, Hyperammonemia, Hyperglutamatemia, Hype... |
ORPHA:3008 |
Dend Syndrome |
|
Elevated hemoglobin A1c, Hyperglycemia |
ORPHA:79134 |
Pseudohypoparathyroidism Type 1C |
|
Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Calcinosis, Hypocalcemic seizures |
ORPHA:79444 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hypoproteinemia, Hypocalcemia |
OMIM:235255 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Hypocalcemia |
OMIM:618476 |
Short Syndrome |
|
Insulin resistance, Hyperglycemia, Glucose intolerance, Insulin-resistant diabetes mellitus |
OMIM:269880 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypocalcemic seizures, Diabetes mellitus, Hypocalcemia |
ORPHA:2237 |
Mitchell-Riley Syndrome |
|
Hyperglycemia, Hyperbilirubinemia, Diabetes mellitus |
OMIM:615710 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Hyperglycemia |
OMIM:615954 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia |
ORPHA:73224 |
Multiple Endocrine Neoplasia Type 1 |
|
Hypercalcemia |
ORPHA:652 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hypokalemia, Hyponatremia, Hypocalcemia, Calcinosis |
OMIM:617913 |
Double Outlet Right Ventricle |
|
Hypocalcemia |
ORPHA:3426 |
Beta-Ketothiolase Deficiency |
|
Hypoglycemia, Hyperglycemia, Hyperammonemia, Hyperuricemia |
ORPHA:134 |
Bacterial Toxic-Shock Syndrome |
|
Hypoalbuminemia, Elevated circulating creatinine concentration, Hypocalcemia, Elevated circulatin... |
ORPHA:36234 |
Lipodystrophy, Familial Partial, Type 2 |
|
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... |
OMIM:151660 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Hyperlipidemia, Hypercholes... |
OMIM:248370 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hypoproteinemia, Hypocalcemia |
ORPHA:1655 |
Rabson-Mendenhall Syndrome |
|
Postprandial hyperglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Fasting hype... |
ORPHA:769 |
Pseudohypoparathyroidism Type 1A |
|
Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Calcinosis, Hypocalcemic seizures |
ORPHA:79443 |
Williams-Beuren Syndrome |
|
Glucose intolerance, Hypercalcemia, Diabetes mellitus |
OMIM:194050 |
Pearson Syndrome |
|
Glycosuria, Hypomagnesemia, Hypocalcemia, Hypokalemia, Hypophosphatemia, Hyperalaninemia, Diabete... |
ORPHA:699 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hyperglycemia, Hypercholesterolemia |
ORPHA:90065 |
Pseudohypoparathyroidism, Type Ia |
|
Hypocalcemic tetany, Hyperphosphatemia |
OMIM:103580 |
Sarcoidosis |
|
Hypercalcemia |
ORPHA:797 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hyperbilirubinemia, Hypocalcemia |
OMIM:259720 |
Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Hypoglycemia, Hyperglycemia, Hyperglycinemia, Hypernatremia |
OMIM:620423 |
Ethylene Glycol Poisoning |
|
Hyperkalemia, Hypocalcemia |
ORPHA:31826 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Postprandial hyperglycemia, Hypomagnesemia, Transient hypophosphatemia, Hyp... |
ORPHA:79102 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hyperkalemia, Diabetes mellitus, Hypocalcemia |
ORPHA:544482 |
Hypomagnesemia 3, Renal |
|
Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphatemia, Hypomagnesemi... |
OMIM:248250 |
Sotos Syndrome |
|
Neonatal hypoglycemia, Hypercalcemia |
ORPHA:821 |
Igg4-Related Thyroid Disease |
|
Hypocalcemia |
ORPHA:64744 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hypoalbuminemia, Unconjugated hyperbilirubinemia, Hypocalcemia, Hypoglycemia |
OMIM:613658 |
Cartilage-Hair Hypoplasia |
|
Hypocalcemia |
ORPHA:175 |
Velocardiofacial Syndrome |
|
Hypocalcemia |
OMIM:192430 |
Alstrom Syndrome |
|
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Hypertriglyceridemia, Hyper... |
OMIM:203800 |
Craniofacioskeletal Syndrome |
|
Hypocalcemia |
OMIM:300712 |
Pancreatic And Cerebellar Agenesis |
|
Hyperglycemia, Diabetes mellitus, Hypoglycemia |
OMIM:609069 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hyperbilirubinemia, Hypocalcemia |
ORPHA:163979 |
Exercise-Induced Malignant Hyperthermia |
|
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration |
ORPHA:466650 |
Liver Disease, Severe Congenital |
|
Increased circulating ferritin concentration, Hyperbilirubinemia, Hypocalcemia, Hyperammonemia, H... |
OMIM:619991 |
Hennekam Syndrome |
|
Hypocalcemia |
ORPHA:2136 |
Isolated Sedoheptulokinase Deficiency |
|
Postprandial hyperglycemia |
ORPHA:440713 |
Cranioectodermal Dysplasia 1 |
|
Hypocalcemia |
OMIM:218330 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:667 |
22Q11.2 Deletion Syndrome |
|
Hypocalcemia |
ORPHA:567 |
Osteopetrosis With Renal Tubular Acidosis |
|
Hypocalcemia, Elevated circulating creatine kinase concentration |
ORPHA:2785 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Hyperglycemia, Neonatal insulin-dependent diabetes mellitus, Glycosuria |
ORPHA:99885 |
Leprechaunism |
|
Postprandial hyperglycemia, Insulin resistance, Hyperinsulinemia, Recurrent infantile hypoglycemi... |
ORPHA:508 |
Scorpion Envenomation |
|
Glycosuria, Hyperglycemia, Hypokalemia, Increased circulating creatine kinase MB isoform, Increas... |
ORPHA:466677 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia |
ORPHA:93325 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypoglycemia, Hyperglycemia, Hypertyrosinemia, Recurrent hypoglycemia |
OMIM:124000 |
Atypical Werner Syndrome |
|
Glycosuria, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia, Hyperglycemia, Hyperin... |
ORPHA:79474 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hypocalcemia, Hypomagnesemia |
OMIM:619503 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Hypocalcemic tetany |
ORPHA:83471 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Hypocalcemia |
OMIM:620330 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Hyperglycemia, Hyperlipidemia |
ORPHA:293987 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Hyperglycemia |
ORPHA:444077 |
Digeorge Syndrome |
|
Hypocalcemia |
OMIM:188400 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Hyperglycemia, Diabetes mellitus, Glycosuria |
OMIM:600001 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Hyperglycemia, Hyperammonemia, Hypoglycemia |
OMIM:220111 |
Johanson-Blizzard Syndrome |
|
Conjugated hyperbilirubinemia, Hypocalcemia, Diabetes mellitus, Increased VLDL cholesterol concen... |
OMIM:243800 |
Charge Syndrome |
|
Hypocalcemia |
OMIM:214800 |
Bardet-Biedl Syndrome |
|
Insulin resistance, Decreased HDL cholesterol concentration, Impaired fasting glucose, Type II di... |
ORPHA:110 |