| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatosplenomegaly, Diabetes mellitus, Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Hypocalc... |
OMIM:612526 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia, Abnormal heart morphology |
DECIPHER:16 |
| Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
| Glycogen Storage Disease Vi |
|
Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia, Hypoglycemia |
OMIM:232700 |
| Hypoparathyroidism, Familial Isolated, 2 |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
OMIM:618883 |
| Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... |
OMIM:616834 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia, Hypoglycemia |
ORPHA:366 |
| Hypoparathyroidism, Familial Isolated, 1 |
|
Cataract, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
OMIM:146200 |
| Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Steatorrhea, Hypotriglyceridemia, Hypocholesterolemia, H... |
OMIM:246700 |
| Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hyperammonemia, Atrial septal defect, Attention deficit hyperactivity disorder, Increased C-pepti... |
OMIM:620211 |
| Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration |
OMIM:615883 |
| Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Hypocalcemia, Splenomegaly |
ORPHA:172 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypocholesterolemia, Hepatomegaly, Splenomegaly |
OMIM:610539 |
| 2P21 Microdeletion Syndrome |
|
Hypocalcemia, Hypoglycemia |
ORPHA:163693 |
| Pancreatic Lipase Deficiency |
|
Steatorrhea, Hypocholesterolemia |
OMIM:614338 |
| Attention Deficit-Hyperactivity Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:143465 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating gamma-aminobutyric acid concentration, Hypocalcemia, Splenomegaly |
OMIM:619658 |
| Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
| Alpha-Heavy Chain Disease |
|
Hepatomegaly, Hypocalcemia, Splenomegaly |
ORPHA:100025 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Corneal arcus, Hypercholesterolemia |
OMIM:144300 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hypokalemia, Hypocalcemia, Dilated cardiomyopathy, Hyponatremia, Hypomagnesemia |
OMIM:620152 |
| Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
| Hyperlysinemia, Type I |
|
Hyperactivity, Ectopia lentis, Hyperlysinemia |
OMIM:238700 |
| Vitamin D-Dependent Rickets, Type 3 |
|
Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
| Timothy Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Hypocalcemia, Patent foramen ovale, Cardiomegaly,... |
OMIM:601005 |
| Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
| Hyperinsulinism Due To Insr Deficiency |
|
Recurrent hypoglycemia, Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, H... |
ORPHA:263458 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia |
ORPHA:2239 |
| Fish-Eye Disease |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... |
OMIM:136120 |
| Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemia, Hyperlipidemi... |
ORPHA:79506 |
| Autoimmune Hypoparathyroidism |
|
Cataract, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Conjunctivitis, Hypocalcemic te... |
ORPHA:36913 |
| Potocki-Lupski Syndrome |
|
Hyperactivity, Atrial septal defect, Oral-pharyngeal dysphagia, Patent foramen ovale, Hypocholest... |
OMIM:610883 |
| Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypoproteinemia, Hyperammonemia, Ventricular septal defect, Atrial septal defect, Hepatomegaly, E... |
ORPHA:26793 |
| Glycogen Storage Disease Ixa1 |
|
Hyperuricemia, Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Hypercholesterolemia, Hypoglycemia |
OMIM:306000 |
| Hypotonia-Cystinuria Syndrome |
|
Polyphagia, Neonatal hypoglycemia, Hypocalcemia |
OMIM:606407 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Steatorrhea, Decreased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholest... |
OMIM:615558 |
| Pseudohypoparathyroidism Type 2 |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Calcinosis |
ORPHA:94090 |
| Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hypertriglyceridemia, Hepatomegaly, Hyperactivity |
OMIM:615924 |
| Familial Isolated Hypoparathyroidism |
|
Cataract, Hypocalcemia |
ORPHA:2238 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Neonatal hypoglycemia, Nonketotic hypoglycemia, Hypoglycemic seizures, Increased circulating free... |
ORPHA:293964 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Increased circulating renin level, Hyperphosphatemia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
| Morbid Obesity And Spermatogenic Failure |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... |
OMIM:615703 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Polyphagia, Maternal diabetes, Neonatal hypoglycemia, Fasting hypoglycemia, Agitation, Increased ... |
ORPHA:324575 |
| Genetic Hyperferritinemia Without Iron Overload |
|
Cataract, Abnormal transferrin saturation, Increased circulating ferritin concentration, Elevated... |
ORPHA:254704 |
| Hemochromatosis, Type 4 |
|
Cataract, Elevated transferrin saturation, Impaired glucose tolerance, Diabetes mellitus, Cardiom... |
OMIM:606069 |
| Blue Diaper Syndrome |
|
Abnormal circulating tryptophan concentration, Hypercalcemia |
OMIM:211000 |
| Dahlberg-Borer-Newcomer Syndrome |
|
Cataract, Mitral valve prolapse, Hypocalcemia |
ORPHA:1563 |
| Pseudohypoparathyroidism, Type Ic |
|
Cataract, Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia |
OMIM:612462 |
| Oculoskeletodental Syndrome |
|
Developmental cataract, Hypocalcemia, Hypercalcemia |
ORPHA:557003 |
| Peroxisome Biogenesis Disorder 3B |
|
Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterolemia, Hepatomegaly |
OMIM:266510 |
| Iron Overload, Susceptibility To |
|
Elevated transferrin saturation, Elevated circulating hepcidin concentration, Type II diabetes me... |
OMIM:620121 |
| Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
| Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia |
ORPHA:93324 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Developmental cataract, Hypocholesterolemia, Hepatomegaly, Hypertrophic cardiomyopathy |
OMIM:618810 |
| Neonatal Hemochromatosis |
|
Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia |
ORPHA:446 |
| Renal Tubular Acidosis, Distal, 1 |
|
Hypocalcemia, Hypokalemia, Elevated circulating creatinine concentration |
OMIM:179800 |
| Growth Hormone Insensitivity Syndrome |
|
Diabetes mellitus, Type II diabetes mellitus, Insulin resistance, Hypercholesterolemia, Hypoglycemia |
ORPHA:181393 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Steatorrhea, Hepatomegaly, Conjugated hyperbilirubinemia, Hypocholesterolemia, Splenomegaly |
OMIM:607765 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cataract, Hypocalcemia, Hypokalemia, Hypomagnesemia |
OMIM:175500 |
| Blue Diaper Syndrome |
|
Recurrent hypoglycemia, Increased proinsulin:insulin ratio, Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
| Galactokinase Deficiency |
|
Cataract, Hepatosplenomegaly, Hypergalactosemia, Increased level of galactitol in plasma, Hepatom... |
ORPHA:79237 |
| Squalene Synthase Deficiency |
|
Decreased LDL cholesterol concentration, Elevated circulating methylsuccinic acid concentration, ... |
OMIM:618156 |
| Intermediate Osteopetrosis |
|
Hepatosplenomegaly, Hypocalcemia |
ORPHA:210110 |
| Pseudopseudohypoparathyroidism |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:79445 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly, Elevated circulating creatine kinase concentration |
OMIM:604765 |
| X-Linked Sideroblastic Anemia |
|
Abnormality of iron homeostasis, Glucose intolerance, Splenomegaly |
ORPHA:75563 |
| Oculoskeletodental Syndrome |
|
Hepatomegaly, Hypocalcemia, Developmental cataract, Splenomegaly, Hypercalcemia |
OMIM:618440 |
| Glycogen Storage Disease Iii |
|
Cardiomyopathy, Hepatomegaly, Elevated circulating creatine kinase concentration, Ventricular hyp... |
OMIM:232400 |
| Hjv Or Hamp-Related Hemochromatosis |
|
Elevated transferrin saturation, Diabetes mellitus, Increased circulating ferritin concentration,... |
ORPHA:79230 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypertriglyceridemia, Hypomagnesemia, Hypocalcemia, Pericardial effusion, Hyponatremia, Hypoalbum... |
OMIM:618183 |
| Ring Chromosome 10 Syndrome |
|
Hypocalcemia |
ORPHA:1438 |
| Hepatic Lipase Deficiency |
|
Hypertriglyceridemia, Corneal arcus, Increased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:614025 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:89937 |
| Pseudohypoparathyroidism Type 1B |
|
Cataract, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Conjunctivitis, Hypocalcemic te... |
ORPHA:94089 |
| Juvenile Nephropathic Cystinosis |
|
Hypophosphatemia, Glycosuria, Hypouricemia, Hypokalemia, Hyponatremia, Corneal crystals, Polydips... |
ORPHA:411634 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hyperuricemia, Hypoglycemia |
ORPHA:364 |
| Refractory Celiac Disease |
|
Hypoproteinemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia, Hypoalbuminemia |
ORPHA:398063 |
| Hyperlipidemia, Familial Combined, 3 |
|
Increased LDL cholesterol concentration, Elevated circulating apolipoprotein A-II concentration, ... |
OMIM:144250 |
| Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
| Double Outlet Right Ventricle |
|
Hypoplastic left heart, Pulmonic stenosis, Tetralogy of Fallot, Ventricular septal defect, Double... |
ORPHA:3426 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Cardiomyopathy, Hypocalcemia, Hypoketotic hypoglycemia, Left ventricular hypertrophy |
ORPHA:746 |
| Tangier Disease |
|
Hepatosplenomegaly, Left ventricular hypertrophy, Coronary artery stenosis, Hypertriglyceridemia,... |
ORPHA:31150 |
| Chylomicron Retention Disease |
|
Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia |
ORPHA:71 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Elevated transferrin saturation |
OMIM:205950 |
| Albers-Schönberg Osteopetrosis |
|
Hypocalcemia |
ORPHA:53 |
| Hemochromatosis, Neonatal |
|
Abnormality of iron homeostasis, Increased serum iron, Increased circulating ferritin concentrati... |
OMIM:231100 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Cataract, Hypokalemia, Splenomegaly, Dysphagia, Hypocalcemia, Hyponatremia, Calcinosis |
OMIM:617913 |
| Glycine Encephalopathy 1 |
|
Hyperglycinemia, Hyperactivity, Restlessness, Impulsivity |
OMIM:605899 |
| Hemochromatosis, Type 5 |
|
Elevated transferrin saturation, Abnormal circulating copper concentration, Increased serum iron,... |
OMIM:615517 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly, Elevated circulating creatine kinase concentration, Hypoglycemia, Decreased circula... |
OMIM:618838 |
| Colchicine Poisoning |
|
Myocarditis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypon... |
ORPHA:31824 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Hypophosphatemia, Hypocalcemia |
OMIM:600081 |
| Sanjad-Sakati Syndrome |
|
Astigmatism, Corneal opacity, Hyperphosphatemia, Hypocalcemia |
ORPHA:2323 |
| X-Linked Agammaglobulinemia |
|
Conjunctivitis, Hypocalcemia |
ORPHA:47 |
| Cholera |
|
Abnormal blood ion concentration, Hypokalemia, Hypocalcemia, Hyponatremia, Hypoglycemia |
ORPHA:173 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Hypoglycemia, Hypocalcemia, Patent foramen ovale |
OMIM:607143 |
| Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hyperaldosteronism, Pericardial effusion, Hypocalcemia, Dilated cardiomyopathy, Hypocalcemic teta... |
ORPHA:73224 |
| Kenny-Caffey Syndrome, Type 1 |
|
Hypocalcemia, Hypomagnesemia |
OMIM:244460 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia |
OMIM:264700 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
OMIM:241410 |
| Gracile Syndrome |
|
Increased circulating ferritin concentration, Increased serum iron, Increased serum pyruvate |
OMIM:603358 |
| Genetic Recurrent Myoglobinuria |
|
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase |
ORPHA:99845 |
| Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Hypomagnesemia, Pericardial effusion, Hypocalcemia, Hypoalbuminemia |
ORPHA:90362 |
| Hypercalcemia, Infantile, 2 |
|
Hypophosphatemia, Hypercalcemia |
OMIM:616963 |
| Hemochromatosis, Type 2B |
|
Elevated transferrin saturation, Cardiomyopathy, Hepatomegaly, Increased serum iron, Increased ci... |
OMIM:613313 |
| Granulomatous Slack Skin |
|
Hypercalcemia |
ORPHA:33111 |
| Pearson Syndrome |
|
Cataract, Hypophosphatemia, Glycosuria, Diabetes mellitus, Steatorrhea, Hyperalaninemia, Cardiomy... |
ORPHA:699 |
| Hyperparathyroidism 4 |
|
Hypercalcemia |
OMIM:617343 |
| Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Hypercalcemia |
ORPHA:2123 |
| Pseudohypoparathyroidism Type 1C |
|
Cataract, Polyphagia, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Conjunctivitis, Hyp... |
ORPHA:79444 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Hypocalcemia, Splenomegaly |
OMIM:259700 |
| Gracile Bone Dysplasia |
|
Aniridia, Hypocalcemia |
OMIM:602361 |
| Phenylketonuria |
|
Blue irides, Cataract, Hyperphenylalaninemia, Hyperactivity, Maternal hyperphenylalaninemia, Atte... |
OMIM:261600 |
| Gitelman Syndrome |
|
Maternal diabetes, Hypermagnesemia, Hypokalemia, Salt craving, Polydipsia, Primary hyperaldostero... |
ORPHA:358 |
| Propionic Acidemia |
|
Cardiomyopathy, Hyperammonemia, Hepatomegaly, Hypoglycemia |
ORPHA:35 |
| Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
| 8p23.1 deletion syndrome |
|
Atrioventricular canal defect, Hyperactivity, Abnormal heart morphology, Atrial septal defect |
DECIPHER:39 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:93160 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hypoproteinemia, Ventricular septal defect, Hepatomegaly, Hypocalcemia, Splenomegaly |
OMIM:235255 |
| Celiac Disease, Susceptibility To, 1 |
|
Steatorrhea, Type I diabetes mellitus, Hypocalcemia |
OMIM:212750 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Decreased LDL cholesterol concentration, Abetalipoproteinemia, Elevated circulating creatine kina... |
ORPHA:96180 |
| Glycogen Storage Disease Ixc |
|
Fasting hypoglycemia, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hypoglycemia |
OMIM:613027 |
| Neuroleptic Malignant Syndrome |
|
Hyperuricemia, Agitation, Hyperphosphatemia, Elevated circulating creatine kinase concentration, ... |
ORPHA:94093 |
| Hypercholesterolemia, Familial, 3 |
|
Corneal arcus, Abnormal LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:603776 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Hyperammonemia, Elevated circulating fumarate concentration, Atrial septal defect, Hyperalaninemi... |
OMIM:615160 |
| Kenny-Caffey Syndrome, Type 2 |
|
Developmental cataract, Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia |
OMIM:127000 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hyperammonemia, Transient hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase conc... |
OMIM:255120 |
| Pseudohypoparathyroidism Type 1A |
|
Cataract, Polyphagia, Hypocalcemic seizures, Hyperphosphatemia, Band keratopathy, Hypocalcemia, C... |
ORPHA:79443 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatosplenomegaly, Hypoproteinemia, Ventricular septal defect, Hepatomegaly, Hypocalcemia, Splen... |
ORPHA:1655 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Hypoglycemia, Hepatomegaly, Increased blood urea nitrogen, Elevated circulating creatinine concen... |
OMIM:617872 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia |
ORPHA:289157 |
| Abetalipoproteinemia |
|
Corneal ulceration, Steatorrhea, Decreased LDL cholesterol concentration, Keratoconjunctivitis si... |
ORPHA:14 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hyperactivity, Hepatomegaly, Hyperinsulinemia, Hypertriglyceridemia, Insulin resistance |
ORPHA:363400 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Increased LDL cholesterol concentration, Coronary artery stenosis, Hypertriglyceridemia, Hypergly... |
OMIM:615812 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hyperammonemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Dilated cardiom... |
OMIM:600649 |
| Oncogenic Osteomalacia |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:352540 |
| Isotretinoin-Like Syndrome |
|
Conotruncal defect, Abnormal cardiac atrium morphology, Bicuspid aortic valve, Aortic valve steno... |
ORPHA:2306 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hepatosplenomegaly, Mydriasis, Hepatomegaly, Hyperbilirubinemia, Hypocalcemia, Splenomegaly |
OMIM:259720 |
| Hypercholesterolemia, Familial, 2 |
|
Corneal arcus, Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
| Hemochromatosis, Type 2A |
|
Cardiomyopathy, Hepatomegaly, Increased serum iron, Dilated cardiomyopathy, Increased circulating... |
OMIM:602390 |
| Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Hypercalcemia |
ORPHA:2668 |
| Uremic Pruritus |
|
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Increased blood urea nitrogen |
ORPHA:94059 |
| Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Decreased circulating apolipoprotein C-II conce... |
OMIM:207750 |
| Pseudohypoparathyroidism, Type Ia |
|
Cataract, Hyperphosphatemia, Hypocalcemic tetany |
OMIM:103580 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Abnormal blood ion concentration, Decreased prealbumin level, Hypomagnesemia, Hypocalcemia, Type ... |
ORPHA:37042 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Transient hyperlipidemia, Hepatomegaly, Hypoglycemia, Hypertrophic cardiomyopathy |
ORPHA:156 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Hypocalcemia |
OMIM:618476 |
| Velocardiofacial Syndrome |
|
Posterior embryotoxon, Tetralogy of Fallot, Hypocalcemia, Ventricular septal defect |
OMIM:192430 |
| Small Cell Carcinoma Of The Bladder |
|
Hypercalcemia |
ORPHA:284400 |
| Alg12-Cdg |
|
Recurrent hypoglycemia, Biventricular hypertrophy, Muscular ventricular septal defect, Patent for... |
ORPHA:79324 |
| Congenital Isolated Acth Deficiency |
|
Neonatal hypoglycemia, Hypoglycemic seizures, Hyperkalemia, Hyponatremia, Decreased circulating c... |
ORPHA:199296 |
| Bacterial Toxic-Shock Syndrome |
|
Myocarditis, Elevated circulating creatine kinase concentration, Hypocalcemia, Hypoalbuminemia, E... |
ORPHA:36234 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Polyphagia, Hypercalcemia, Increased blood urea nitrogen, Enlarged kidney |
ORPHA:251004 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Neonatal hypoglycemia, Hyperammonemia, Abnormal circulating acetylcarnitine concentration, Fastin... |
ORPHA:71212 |
| Glycogen Storage Disease Ixb |
|
Hepatomegaly, Hyperuricemia, Hypoglycemia, Splenomegaly |
OMIM:261750 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hypoglycemia, Hyponatremia, Decreased circulating cortisol level, Hyperkalemia |
OMIM:614736 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Steatorrhea, Cardiomyopathy, Hepatomegaly, Pericardial effusion, Hypocholesterolemia, Pericarditi... |
OMIM:212065 |
| Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hypercalcemia |
OMIM:239199 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Diabetes mellitus, Hypocalcemic seizures, Hypocalcemia, Abnormal heart morphology |
ORPHA:2237 |
| Hypercalcemia, Infantile, 1 |
|
Hypercalcemia |
OMIM:143880 |
| Hyperparathyroidism, Neonatal Severe |
|
Hypercalcemia, Hypophosphatemia, Hepatomegaly, Polydipsia, Splenomegaly, Calcinosis |
OMIM:239200 |
| Ornithine Transcarbamylase Deficiency |
|
Hyperammonemia, Splenomegaly, Hypoglycemia |
ORPHA:664 |
| Rhabdoid Tumor |
|
Hypercalcemia |
ORPHA:69077 |
| Obsolete: Acrodysostosis With Multiple Hormone Resistance |
|
Blue irides, Hyperactivity, Diabetes mellitus, Hyperphosphatemia, Hypocalcemia |
ORPHA:280651 |
| Hypophosphatasia |
|
Hypercalcemia |
ORPHA:436 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypercalcemia |
OMIM:614732 |
| Kaufman Oculocerebrofacial Syndrome |
|
Atrial septal defect, Ventricular septal defect, Astigmatism, Hypocholesterolemia, Microcornea |
OMIM:244450 |
| Citrullinemia Type Ii |
|
Hypoproteinemia, Abnormal eating behavior, Hyperactivity, Restlessness, Acute hyperammonemia, Hep... |
ORPHA:247585 |
| Hemochromatosis, Type 1 |
|
Diabetes mellitus, Cardiomyopathy, Hepatomegaly, Increased serum iron, Glucose intolerance, Incre... |
OMIM:235200 |
| Ethylene Glycol Poisoning |
|
Alcoholism, Hypocalcemia, Hyperkalemia |
ORPHA:31826 |
| Late-Onset Isolated Acth Deficiency |
|
Hyperuricemia, Decreased circulating cortisol level, Hyperkalemia, Type I diabetes mellitus, Hypo... |
ORPHA:199299 |
| Hemochromatosis, Type 3 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Cardiomyopathy, In... |
OMIM:604250 |
| Dubowitz Syndrome |
|
Hyperactivity, Iris coloboma, Megalocornea, Hypoplasia of the iris, Hypocholesterolemia |
OMIM:223370 |
| Familial Isolated Hyperparathyroidism |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:99879 |
| Autosomal Dominant Hypocalcemia |
|
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia |
ORPHA:428 |
| Igg4-Related Thyroid Disease |
|
Dysphagia, Hypocalcemia |
ORPHA:64744 |
| Acute Adrenal Insufficiency |
|
Hyperuricemia, Increased circulating renin level, Decreased circulating cortisol level, Hyperkale... |
ORPHA:95409 |
| Thymic Neuroendocrine Tumor |
|
Increased circulating cortisol level, Hypercalcemia |
ORPHA:97289 |
| Hypoadrenocorticism, Familial |
|
Hyponatremia, Hypoglycemia, Hyperkalemia |
OMIM:240200 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Elevated transferrin saturation, Unconjugated hyperbilirubinemia, Increased serum iron, Increased... |
ORPHA:766 |
| 22Q11.2 Deletion Syndrome |
|
Cataract, Abnormal pulmonary valve morphology, Tetralogy of Fallot, Ventricular septal defect, At... |
ORPHA:567 |
| Dietary Iron Overload Disease |
|
Elevated transferrin saturation, Diabetes mellitus, Increased circulating cortisol level, Hepatom... |
ORPHA:139507 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Pulmonic stenosis, Attention deficit hyperactivity disorder, Myopic astigmatism, D... |
OMIM:620141 |
| Exfoliation Syndrome |
|
Cataract, Mydriasis, Phakodonesis, Abnormal lens morphology, Iris hypoperfusion, Anisocoria, Pigm... |
OMIM:177650 |
| Hyperparathyroidism 2 With Jaw Tumors |
|
Hypercalcemia |
OMIM:145001 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Elevated creatine kinase after exercise, Hypercalcemia |
ORPHA:284426 |
| Mandibuloacral Dysplasia |
|
Hyperinsulinemia, Hypertriglyceridemia, Increased circulating free fatty acid level, Glucose into... |
ORPHA:2457 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Elevated transferrin saturation, Diabetes mellitus, Cardiomyopathy, Hepatomegaly, Hyperglycemia, ... |
ORPHA:465508 |
| Cartilage-Hair Hypoplasia |
|
Abnormal cardiac septum morphology, Cardiomyopathy, Hepatomegaly, Hypocalcemia |
ORPHA:175 |
| Craniofacioskeletal Syndrome |
|
Atrial septal defect, Hypocalcemia, Ventricular septal defect |
OMIM:300712 |
| Non-Functioning Paraganglioma |
|
Hypercalcemia |
ORPHA:94080 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Hyperbilirubinemia, Increased serum bile acid concentration, Increased total iron b... |
OMIM:616278 |
| Monosomy 13Q34 |
|
Pulmonic stenosis, Insulin resistance, Common atrium, Hypercalcemia |
ORPHA:96168 |
| Secondary Intestinal Lymphangiectasia |
|
Secondary hyperaldosteronism, Decreased prealbumin level, Reduced circulating transferrin concent... |
ORPHA:90363 |
| Liver Disease, Severe Congenital |
|
Hypoproteinemia, Hyperammonemia, Left atrial enlargement, Ventricular septal defect, Elevated cir... |
OMIM:619991 |
| Multiple Endocrine Neoplasia, Type I |
|
Increased circulating cortisol level, Hypoglycemia, Hypercalcemia |
OMIM:131100 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Myocarditis, Diabetes mellitus, Hyperkalemia, Hypocalcemia, Hyponatremia |
ORPHA:544482 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hyperbilirubinemia, Atrial septal defect, Hypocalcemia, Ventricular septal defect |
ORPHA:163979 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Hypokalemia, Hypomagnesemia |
OMIM:618314 |
| Combined Oxidative Phosphorylation Deficiency 42 |
|
Cardiomyopathy, Elevated circulating creatine kinase concentration, Hypoglycemia, Decreased circu... |
OMIM:618839 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Elevated transferrin saturation, Hepatomegaly, Increased circulating ferritin concentration, Elev... |
OMIM:615234 |
| Combined Oxidative Phosphorylation Deficiency 40 |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Decreased circulating cortisol ... |
OMIM:618835 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypercalcemia, Hypophosphatemia, Hypophosphatemic rickets |
OMIM:612089 |
| Addison Disease |
|
Hyperuricemia, Increased circulating renin level, Decreased circulating cortisol level, Hyperkale... |
ORPHA:85138 |
| Aceruloplasminemia |
|
Increased circulating ferritin concentration, Diabetes mellitus, Decreased serum iron, Acerulopla... |
OMIM:604290 |
| Hyperlipoproteinemia, Type I |
|
Hepatosplenomegaly, Splenomegaly, Hyperlipidemia, Lactescent serum, Hypercholesterolemia, Increas... |
OMIM:238600 |
| Beta-Thalassemia |
|
Abnormality of iron homeostasis, Hepatomegaly, Splenomegaly, Hypertrophic cardiomyopathy |
ORPHA:848 |
| Infantile Myofibromatosis |
|
Hypercalcemia |
ORPHA:2591 |
| Glucose-Galactose Malabsorption |
|
Hypernatremia, Hypercalcemia |
ORPHA:35710 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Abnormal pulmonary valve morphology, Hypophosphatemia, Hepatomegaly, Hypocalcemia, Splenomegaly |
ORPHA:667 |
| Hypophosphatasia, Infantile |
|
Elevated plasma pyrophosphate, Hypercalcemia |
OMIM:241500 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Elevated hepatic iron concentration, Increased serum iron |
OMIM:206100 |
| D-Glyceric Aciduria |
|
Increased circulating free fatty acid level, Nonketotic hyperglycinemia, Hyperglycinemia |
ORPHA:941 |
| Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145980 |
| Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145981 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Unconjugated hyperbilirubinemia, Hypocalcemia, Hypoglycemia, Hypoalbuminemia |
OMIM:613658 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Atrial septal defect, Astigmatism, Abnormal heart morphology, Hypertriglyceridemia, Restrictive c... |
ORPHA:369837 |
| Hennekam Syndrome |
|
Pericardial effusion, Hypocalcemia, Splenomegaly |
ORPHA:2136 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Hypercalcemia |
OMIM:171420 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Attention deficit hyperactivity disorder, Hypercalcemia, Complete atrioventricular canal defect |
ORPHA:476126 |
| Pheochromocytoma |
|
Developmental cataract, Hypercalcemia |
OMIM:171300 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypophosphatemia, Glycosuria, Hypouricemia, Diabetes mellitus, Hepatomegaly, Hypoglycemia |
OMIM:616026 |
| Smith-Lemli-Opitz Syndrome |
|
Cataract, Hyperactivity, Ventricular septal defect, Atrial septal defect, Elevated 7-dehydrochole... |
OMIM:270400 |
| Cranioectodermal Dysplasia 1 |
|
Bicuspid aortic valve, Hepatomegaly, Hypocalcemia |
OMIM:218330 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Developmental cataract, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemic tetany |
ORPHA:93325 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Increased circulating free fatty acid level, Hypoketotic hypoglycemia, Dilated cardiomyopathy |
OMIM:610768 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypophosphatemia, Hypermagnesemia, Hypercalcemia |
OMIM:600740 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Hepatomegaly, Hypocalcemia, Elevated circulating creatine kinase concentration |
ORPHA:2785 |
| Digeorge Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Attention deficit hyperactivity disorder, Scleroc... |
OMIM:188400 |
| Somatostatinoma |
|
Diabetes mellitus, Increased circulating cortisol level, Steatorrhea, Hepatomegaly, Hypercalcemia |
ORPHA:97283 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypophosphatemia, Hypercalcemia |
OMIM:156400 |
| Exercise-Induced Malignant Hyperthermia |
|
Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Hyperkalemia |
ORPHA:466650 |
| Gracile Syndrome |
|
Increased circulating ferritin concentration, Decreased transferrin saturation, Elevated hepatic ... |
ORPHA:53693 |
| Mastocytosis |
|
Hepatomegaly, Splenomegaly, Hypercalcemia |
ORPHA:98292 |
| Hepatocellular Carcinoma |
|
Hepatomegaly, Hypokalemia, Hyperbilirubinemia, Type II diabetes mellitus, Hypoglycemia, Hyponatre... |
ORPHA:88673 |
| Fibrous Dysplasia Of Bone |
|
Diabetes mellitus, Increased circulating cortisol level, Hypophosphatemia, Hypercalcemia |
ORPHA:249 |
| Vipoma |
|
Diabetes mellitus, Increased circulating cortisol level, Hepatomegaly, Hypokalemia, Hypercalcemia |
ORPHA:97282 |
| Paget Disease Of Bone 2, Early-Onset |
|
Hypercalcemia |
OMIM:602080 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hepatosplenomegaly, Hypoplastic left heart, Ventricular septal defect, Mitral atresia, Subvalvula... |
OMIM:619503 |
| Charge Syndrome |
|
Cataract, Secundum atrial septal defect, Dysplastic tricuspid valve, Iris coloboma, Pulmonic sten... |
OMIM:214800 |
| Bartter Syndrome, Type 1, Antenatal |
|
Hyperaldosteronism, Hypochloremia, Hyperchloriduria, Increased circulating renin level, Hypokalem... |
OMIM:601678 |
| Glucagonoma |
|
Diabetes mellitus, Increased circulating cortisol level, Steatorrhea, Hepatomegaly, Hypercalcemia |
ORPHA:97280 |
| Beta-Thalassemia Intermedia |
|
Hepatosplenomegaly, Diabetes mellitus, Hepatomegaly, Abnormality of iron homeostasis, Elevated he... |
ORPHA:231222 |
| Multiple Endocrine Neoplasia Type 4 |
|
Increased circulating cortisol level, Fasting hyperinsulinemia, Increased glucagon level, Hyperin... |
ORPHA:276152 |
| Ppoma |
|
Increased circulating cortisol level, Hepatomegaly, Hypercalcemia |
ORPHA:97278 |
| Johanson-Blizzard Syndrome |
|
Situs inversus totalis, Conjunctival icterus, Ventricular septal defect, Atrial septal defect, Di... |
OMIM:243800 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypercalcemia |
ORPHA:276621 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Hepatosplenomegaly, Decreased transferrin saturation, Increased serum iron, Increased circulating... |
ORPHA:300298 |
| Zollinger-Ellison Syndrome |
|
Increased circulating cortisol level, Increased glucagon level, Hypercalcemia |
ORPHA:913 |
| Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Hypocalcemic seizures, Hypermagnesemia, Hypercalcemia |
ORPHA:405 |
| Multiple Myeloma |
|
Hyperproteinemia, Splenomegaly, Hypercalcemia, Elevated circulating creatinine concentration |
ORPHA:29073 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Aniridia, Hypercalcemia |
ORPHA:29072 |
| Grfoma |
|
Increased circulating cortisol level, Hepatomegaly, Hypercalcemia |
ORPHA:97261 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Hypocalcemic seizures, Hypophosphatemia |
OMIM:277440 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Dysphagia, Polydipsia, Hypophosphatemia, Hypercalcemia |
ORPHA:99880 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Hypocalcemic tetany |
ORPHA:83471 |
| Parathyroid Carcinoma |
|
Dysphagia, Polydipsia, Hypophosphatemia, Hypercalcemia |
ORPHA:143 |
| Williams Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Elevated circulating creati... |
ORPHA:904 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Renal hypophosphatemia, Hypocalcemic tetany, Hypophosphatemic rickets |
ORPHA:289176 |
| Dominant Beta-Thalassemia |
|
Hepatosplenomegaly, Diabetes mellitus, Dilated cardiomyopathy, Abnormality of iron homeostasis, S... |
ORPHA:231226 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormal transferrin saturation, Abnormal blood inorganic cation concentration, Hepatomegaly, Hyp... |
ORPHA:309854 |
| Trichohepatoenteric Syndrome 1 |
|
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot, Hypermethioninemia, Hepatomega... |
OMIM:222470 |
| Beta-Thalassemia Major |
|
Hepatosplenomegaly, Diabetes mellitus, Hepatomegaly, Dilated cardiomyopathy, Abnormality of iron ... |
ORPHA:231214 |
| Histidinemia |
|
Hyperhistidinemia, Hyperactivity |
ORPHA:2157 |
| Multiple Endocrine Neoplasia Type 2 |
|
Hypercalcemia, Prominent corneal nerve fibers |
ORPHA:653 |
| Williams-Beuren Syndrome |
|
Blue irides, Pulmonic stenosis, Ventricular septal defect, Atrial septal defect, Coronary artery ... |
OMIM:194050 |
| Syndromic Diarrhea |
|
Tetralogy of Fallot, Atrial septal defect, Ventricular septal defect, Hepatomegaly, Abnormal hear... |
ORPHA:84064 |
| Hypophosphatemic Rickets |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:437 |
| Multiple Endocrine Neoplasia Type 1 |
|
Increased circulating cortisol level, Primary hypercortisolism, Hypercalcemia |
ORPHA:652 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Hypocalcemic seizures, Hepatomegaly, Splenomegaly |
OMIM:612301 |
| Sotos Syndrome |
|
Cataract, Neonatal hypoglycemia, Ventricular septal defect, Atrial septal defect, Astigmatism, At... |
ORPHA:821 |
| Sarcoidosis |
|
Cataract, Keratoconjunctivitis sicca, Hepatomegaly, Abnormal conjunctiva morphology, Hypercalcemia |
ORPHA:797 |
