| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Corneal arcus, Decreased HDL cholesterol concentration, Decreased circulating apolipoprotein A-I ... |
OMIM:620058 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypertriglyceridemia, Hepatomegaly, Hypocalcemia, Hepatosplenomegaly, Splenomegaly, Insulin resis... |
OMIM:612526 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia, Abnormal heart morphology |
DECIPHER:16 |
| Hypocalcemia, Autosomal Dominant 2 |
|
Hypocalcemia, Abnormal blood phosphate concentration |
OMIM:615361 |
| Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Hepatomegaly, Hyperlipidemia, Hypoglycemia, Hypercholesterolemia |
OMIM:232700 |
| Hypoparathyroidism, Familial Isolated, 2 |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:618883 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... |
ORPHA:79506 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia, Hypoglycemia |
ORPHA:366 |
| Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased LDL cholesterol concentration, Hypocholesterolemia, Developmental cataract, Decreased H... |
OMIM:616834 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemic seizures, Hyperinsulinemia, Hypoglycemia, Hyperammonemia, Increased C-peptide level,... |
OMIM:620211 |
| Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
| Hypoparathyroidism, Familial Isolated, 1 |
|
Cataract, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia |
OMIM:146200 |
| Progressive Familial Intrahepatic Cholestasis |
|
Hypocalcemia, Hepatomegaly, Splenomegaly |
ORPHA:172 |
| Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration |
OMIM:615883 |
| Pseudohypoparathyroidism Type 2 |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany |
ORPHA:94090 |
| 2P21 Microdeletion Syndrome |
|
Hypocalcemia, Hypoglycemia |
ORPHA:163693 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Splenomegaly |
OMIM:619658 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypocholesterolemia, Hepatomegaly, Splenomegaly |
OMIM:610539 |
| Chylomicron Retention Disease |
|
Steatorrhea, Hypotriglyceridemia, Decreased LDL cholesterol concentration, Hypoalbuminemia, Hypoc... |
OMIM:246700 |
| Alpha-Heavy Chain Disease |
|
Hypocalcemia, Hepatomegaly, Splenomegaly |
ORPHA:100025 |
| Pancreatic Lipase Deficiency |
|
Steatorrhea, Hypocholesterolemia |
OMIM:614338 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Corneal arcus, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hypokalemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Dilated cardiomyopathy |
OMIM:620152 |
| Pseudohypoparathyroidism, Type Ii |
|
Hypocalcemia, Hyperphosphatemia |
OMIM:203330 |
| Timothy Syndrome |
|
Hypocalcemia, Patent foramen ovale, Tetralogy of Fallot, Cardiomegaly, Hypoglycemia, Ventricular ... |
OMIM:601005 |
| Vitamin D-Dependent Rickets, Type 3 |
|
Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
| Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
| Potocki-Lupski Syndrome |
|
Atrial septal defect, Oral-pharyngeal dysphagia, Hyperactivity, Patent foramen ovale, Motor stere... |
OMIM:610883 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypomagnesemia |
ORPHA:2239 |
| Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Abnormal circulating C-peptide concentration, Hypoglycemia, Recurr... |
ORPHA:263458 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Diabetes mellitus, Hypercholesterolemia |
OMIM:608320 |
| Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
| Autoimmune Hypoparathyroidism |
|
Hypocalcemic seizures, Hypocalcemia, Hypocalcemic tetany, Conjunctivitis, Cataract, Hyperphosphat... |
ORPHA:36913 |
| Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Atrial septal defect, Hepatomegaly, Hypoketotic hypoglycemia, Hypocalcemia, Patent foramen ovale,... |
ORPHA:26793 |
| Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
| Hypotonia-Cystinuria Syndrome |
|
Hypocalcemia, Neonatal hypoglycemia, Polyphagia |
OMIM:606407 |
| Glycogen Storage Disease Ixa1 |
|
Hypertriglyceridemia, Hepatomegaly, Hyperuricemia, Splenomegaly, Hypoglycemia, Hypercholesterolemia |
OMIM:306000 |
| Pseudohypoparathyroidism, Type Ib |
|
Hypocalcemia, Hyperphosphatemia |
OMIM:603233 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Hepatomegaly, Hypertriglyceridemia |
OMIM:615924 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Decreased LDL cholest... |
OMIM:615558 |
| Familial Isolated Hypoparathyroidism |
|
Cataract, Hypocalcemia |
ORPHA:2238 |
| Morbid Obesity And Spermatogenic Failure |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... |
OMIM:615703 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Anorexia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Cataract |
OMIM:175500 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hypocalcemia, Increased circulating renin level, Hypomagnesemia, Hyperphosphatemia |
OMIM:601198 |
| Blue Diaper Syndrome |
|
Abnormal circulating tryptophan concentration, Hypercalcemia |
OMIM:211000 |
| Pseudohypoparathyroidism Type 1B |
|
Hypocalcemic seizures, Hypocalcemia, Hypocalcemic tetany, Conjunctivitis, Cataract, Hyperphosphat... |
ORPHA:94089 |
| Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Hypocalcemia, Hyperphosphatemia |
OMIM:618618 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hypoglycemic seizures, Agitation, Hepatomegaly, Hyperinsulinemia, Neonatal hypoglycemia, Hypoketo... |
ORPHA:324575 |
| Hemochromatosis, Type 4 |
|
Hepatomegaly, Glucose intolerance, Cardiomyopathy, Impaired glucose tolerance, Diabetes mellitus,... |
OMIM:606069 |
| Oculoskeletodental Syndrome |
|
Hypocalcemia, Hypercalcemia, Developmental cataract |
ORPHA:557003 |
| Pseudohypoparathyroidism, Type Ic |
|
Cataract, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia |
OMIM:612462 |
| Dahlberg-Borer-Newcomer Syndrome |
|
Cataract, Hypocalcemia, Mitral valve prolapse |
ORPHA:1563 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Hypocalcemia, Hypocalcemic seizures, Hypocalcemic tetany |
ORPHA:93324 |
| Renal Tubular Acidosis, Distal, 1 |
|
Hypocalcemia, Elevated circulating creatinine concentration, Hypokalemia |
OMIM:179800 |
| Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
| Iron Overload, Susceptibility To |
|
Elevated circulating hepcidin concentration, Elevated hepatic iron concentration, Type II diabete... |
OMIM:620121 |
| Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hypocholesterolemia, Hepatomegaly, Developmental cataract, Hypertrophic cardiomyopathy |
OMIM:618810 |
| Hyperferritinemia With Or Without Cataract |
|
Decreased transferrin saturation, Abnormal transferrin saturation, Anterior subcapsular cataract,... |
OMIM:600886 |
| Neonatal Hemochromatosis |
|
Increased circulating ferritin concentration, Increased circulating iron concentration, Hypoglycemia |
ORPHA:446 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Asymptomatic hyperammonemia, Attention deficit hyperactivity disorder, Hyperinsulinemic hypoglyce... |
ORPHA:35878 |
| Peroxisome Biogenesis Disorder 3B |
|
Elevated circulating phytanic acid concentration, Steatorrhea, Hepatomegaly, Hypocholesterolemia |
OMIM:266510 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... |
OMIM:309548 |
| Blue Diaper Syndrome |
|
Increased proinsulin:insulin ratio, Hyperphosphatemia, Hypercalcemia, Recurrent hypoglycemia |
ORPHA:94086 |
| Fraxe Intellectual Disability |
|
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... |
ORPHA:100973 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Steatorrhea, Hepatomegaly, Splenomegaly, Conjugated hyperbilirubinemia, Hypocholesterolemia |
OMIM:607765 |
| Galactokinase Deficiency |
|
Hepatomegaly, Hyperinsulinemia, Increased level of galactitol in plasma, Hypergalactosemia, Hypog... |
ORPHA:79237 |
| Oculoskeletodental Syndrome |
|
Hepatomegaly, Hypocalcemia, Hypercalcemia, Developmental cataract, Splenomegaly |
OMIM:618440 |
| Phenylketonuria |
|
Hyperactivity, Hyperphenylalaninemia, Compulsive behaviors, Attention deficit hyperactivity disor... |
OMIM:261600 |
| Hyperprolinemia, Type I |
|
Hyperactivity, Hyperprolinemia, Motor stereotypy, Aggressive behavior |
OMIM:239500 |
| Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration |
OMIM:604765 |
| Glycine Encephalopathy 1 |
|
Hyperactivity, Impulsivity, Restlessness, Hyperglycinemia, Aggressive behavior |
OMIM:605899 |
| X-Linked Sideroblastic Anemia |
|
Glucose intolerance, Abnormality of iron homeostasis, Splenomegaly |
ORPHA:75563 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Atrial septal defect, Hepatomegaly, Pericardial effusion, Splenomegaly, Hypoalbuminemia, Hypochol... |
OMIM:608776 |
| Glycogen Storage Disease Iii |
|
Hepatomegaly, Ventricular hypertrophy, Cardiomyopathy, Hyperlipidemia, Elevated circulating creat... |
OMIM:232400 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypertriglyceridemia, Hypocalcemia, Pericardial effusion, Hyponatremia, Hypomagnesemia, Hypoalbum... |
OMIM:618183 |
| Hjv Or Hamp-Related Hemochromatosis |
|
Abnormality of iron homeostasis, Diabetes mellitus, Elevated transferrin saturation, Dilated card... |
ORPHA:79230 |
| Ring Chromosome 10 Syndrome |
|
Hypocalcemia |
ORPHA:1438 |
| Squalene Synthase Deficiency |
|
Increased circulating farnesol concentration, Elevated circulating methylsuccinic acid concentrat... |
OMIM:618156 |
| Hepatic Lipase Deficiency |
|
Corneal arcus, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:614025 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hypoglycemia, Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
| Juvenile Nephropathic Cystinosis |
|
Polydipsia, Hypokalemia, Hypocalcemia, Hypouricemia, Hyponatremia, Glycosuria, Corneal crystals, ... |
ORPHA:411634 |
| Hyperlipidemia, Familial Combined, 3 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... |
OMIM:144250 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:89937 |
| Refractory Celiac Disease |
|
Hypocalcemia, Hypoproteinemia, Hypomagnesemia, Hypophosphatemia, Hypoalbuminemia |
ORPHA:398063 |
| Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
| Double Outlet Right Ventricle |
|
Hypocalcemia, Truncus arteriosus, Pulmonic stenosis, Tetralogy of Fallot, Double outlet right ven... |
ORPHA:3426 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Elevated transferrin saturation, Increased circulating ferritin concentration |
OMIM:205950 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly, Hypoglycemia, Decreased circulating cortisol level, Elevated circulating creatine k... |
OMIM:618838 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Hypocalcemia, Cardiomyopathy, Hypoketotic hypoglycemia, Left ventricular hypertrophy |
ORPHA:746 |
| Hemochromatosis, Neonatal |
|
Increased circulating iron concentration, Increased circulating ferritin concentration, Abnormali... |
OMIM:231100 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Calcinosis, Hypokalemia, Hypocalcemia, Hyponatremia, Splenomegaly, Dysphagia, Cataract |
OMIM:617913 |
| Hemochromatosis, Type 5 |
|
Abnormal circulating transferrin concentration, Abnormal circulating ceruloplasmin concentration,... |
OMIM:615517 |
| Albers-Schönberg Osteopetrosis |
|
Hypocalcemia |
ORPHA:53 |
| Gracile Syndrome |
|
Increased circulating iron concentration, Increased circulating ferritin concentration, Increased... |
OMIM:603358 |
| Colchicine Poisoning |
|
Myocarditis, Hypokalemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypophosphatemia, Abnormal ... |
ORPHA:31824 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Hypocalcemia, Hypophosphatemia |
OMIM:600081 |
| X-Linked Agammaglobulinemia |
|
Hypocalcemia, Conjunctivitis |
ORPHA:47 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Hypocalcemia, Patent foramen ovale, Hypoglycemia |
OMIM:607143 |
| Cholera |
|
Hypokalemia, Hypocalcemia, Hyponatremia, Abnormal blood ion concentration, Hypoglycemia |
ORPHA:173 |
| Kenny-Caffey Syndrome, Type 1 |
|
Hypocalcemia, Hypomagnesemia |
OMIM:244460 |
| Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hypocalcemia, Pericardial effusion, Hypomagnesemia, Hyperaldosteronism, Hypocalcemic tetany, Dila... |
ORPHA:73224 |
| Sanjad-Sakati Syndrome |
|
Hypocalcemia, Hyperphosphatemia, Astigmatism, Corneal opacity |
ORPHA:2323 |
| Tangier Disease |
|
Hypertriglyceridemia, Corneal opacity, Coronary artery stenosis, Hepatosplenomegaly, Left ventric... |
ORPHA:31150 |
| Genetic Recurrent Myoglobinuria |
|
Hypocalcemia, Hyperphosphatemia, Highly elevated creatine kinase, Hyperkalemia |
ORPHA:99845 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:241410 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia |
OMIM:264700 |
| Primary Intestinal Lymphangiectasia |
|
Hypocalcemia, Hypoproteinemia, Pericardial effusion, Hypomagnesemia, Hypoalbuminemia |
ORPHA:90362 |
| Hypercalcemia, Infantile, 2 |
|
Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
| Hyperparathyroidism 4 |
|
Hypercalcemia |
OMIM:617343 |
| Granulomatous Slack Skin |
|
Hypercalcemia |
ORPHA:33111 |
| Propionic Acidemia |
|
Hyperammonemia, Hypoglycemia, Hepatomegaly, Cardiomyopathy |
ORPHA:35 |
| Hemochromatosis, Type 2B |
|
Hepatomegaly, Cardiomyopathy, Increased circulating iron concentration, Splenomegaly, Elevated tr... |
OMIM:613313 |
| Pearson Syndrome |
|
Steatorrhea, Hepatomegaly, Hypokalemia, Hypocalcemia, Corneal stromal edema, Cardiomyopathy, Hype... |
ORPHA:699 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Elevated circulating suberic acid concentration, Increased serum pyruvate, Hyperalaninemia, Hypog... |
OMIM:615160 |
| Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Hypercalcemia |
ORPHA:2123 |
| Gracile Bone Dysplasia |
|
Hypocalcemia, Aniridia |
OMIM:602361 |
| Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Hypocalcemic seizures, Hypocalcemia, Polyphagia, Hypocalcemic tetany, Conjunctivitis,... |
ORPHA:79444 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Hypocalcemia, Hepatomegaly, Splenomegaly |
OMIM:259700 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Astigmatism, Hyperactivity, Compulsive behaviors, Motor tics, Attention deficit hyperactivity dis... |
OMIM:619927 |
| Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Hepatomegaly, Hypocalcemic seizures, Hypocalcemia, Cardiomyopathy, Hypophosphatemia, Splenomegaly |
ORPHA:289157 |
| Neuroleptic Malignant Syndrome |
|
Hyperkalemia, Agitation, Hyperuricemia, Hypocalcemia, Elevated circulating creatine kinase concen... |
ORPHA:94093 |
| 8p23.1 deletion syndrome |
|
Hyperactivity, Atrial septal defect, Atrioventricular canal defect, Abnormal heart morphology |
DECIPHER:39 |
| Gitelman Syndrome |
|
Polydipsia, Hypermagnesemia, Maternal diabetes, Hypokalemia, Hypocalcemia, Pericardial effusion, ... |
ORPHA:358 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Hypocalcemia, Hypoproteinemia, Splenomegaly, Ventricular septal defect |
OMIM:235255 |
| Celiac Disease, Susceptibility To, 1 |
|
Hypocalcemia, Steatorrhea, Type I diabetes mellitus |
OMIM:212750 |
| Hypercholesterolemia, Familial, 3 |
|
Corneal arcus, Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration |
OMIM:603776 |
| Kenny-Caffey Syndrome, Type 2 |
|
Hypocalcemia, Hyperphosphatemia, Developmental cataract, Transient hypophosphatemia |
OMIM:127000 |
| Velocardiofacial Syndrome |
|
Hypocalcemia, Posterior embryotoxon, Tetralogy of Fallot, Ventricular septal defect, Aggressive b... |
OMIM:192430 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:93160 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Hypocalcemia, Inappropriate laughter |
OMIM:618476 |
| Chylomicron Retention Disease |
|
Steatorrhea, Hypocholesterolemia |
ORPHA:71 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Hypoketotic hypoglycemia, Elevated circulating creatine kinase concentration, Hyper... |
OMIM:600649 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Elevated circulating creatine kinase concentration, Abetalipoproteinemia, Decreased LDL cholester... |
ORPHA:96180 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Myopic astigmatism, Hyperactivity, Impulsivity, Frequent temper tantrums, Pulmonic stenosis, Deve... |
OMIM:620141 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Hypocalcemia, Hypoproteinemia, Hepatosplenomegaly, Splenomegaly, Ventricular septal... |
ORPHA:1655 |
| Generalized Pustular Psoriasis |
|
Hypocalcemia, Hyponatremia, Hypoalbuminemia, Elevated circulating C-reactive protein concentration |
ORPHA:247353 |
| Glycogen Storage Disease Ixc |
|
Hypertriglyceridemia, Hepatomegaly, Fasting hypoglycemia, Splenomegaly, Hypoglycemia |
OMIM:613027 |
| Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Hypocalcemic seizures, Hypocalcemia, Band keratopathy, Polyphagia, Hypocalcemic tetan... |
ORPHA:79443 |
| Abetalipoproteinemia |
|
Steatorrhea, Hepatomegaly, Decreased HDL cholesterol concentration, Corneal ulceration, Hypotrigl... |
ORPHA:14 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Mydriasis, Hepatomegaly, Hypocalcemia, Hyperbilirubinemia, Hepatosplenomegaly, Splenomegaly |
OMIM:259720 |
| Hypercholesterolemia, Familial, 2 |
|
Corneal arcus, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144010 |
| Uremic Pruritus |
|
Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia |
ORPHA:94059 |
| Oncogenic Osteomalacia |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:352540 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hypertriglyceridemia, Hyperinsulinemia, Hepatomegaly, Hyperactivity, Insulin resistance |
ORPHA:363400 |
| Long-Olsen-Distelmaier Syndrome |
|
Cardiomegaly, Microspherophakia, Hypoglycemia, Hyperammonemia, Secundum atrial septal defect, Cat... |
OMIM:620609 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hypocalcemia, Decreased circulating prealbumin concentration, Hypomagnesemia, Splenomegaly, Abnor... |
ORPHA:37042 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Coronary artery stenosis, Hypergly... |
OMIM:615812 |
| Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Hypercalcemia |
ORPHA:2668 |
| Apolipoprotein C-Ii Deficiency |
|
Hypertriglyceridemia, Hepatomegaly, Increased circulating chylomicron concentration, Decreased ci... |
OMIM:207750 |
| Hemochromatosis, Type 2A |
|
Hepatomegaly, Cardiomyopathy, Increased circulating iron concentration, Splenomegaly, Dilated car... |
OMIM:602390 |
| Pseudohypoparathyroidism, Type Ia |
|
Cataract, Hyperphosphatemia, Hypocalcemic tetany |
OMIM:103580 |
| Small Cell Carcinoma Of The Bladder |
|
Hypercalcemia |
ORPHA:284400 |
| Ornithine Transcarbamylase Deficiency |
|
Hyperammonemia, Hypoglycemia, Splenomegaly |
ORPHA:664 |
| Bacterial Toxic-Shock Syndrome |
|
Myocarditis, Hypocalcemia, Elevated circulating creatine kinase concentration, Hypoalbuminemia, E... |
ORPHA:36234 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Increased blood urea nitrogen, Enlarged kidney, Hypercalcemia, Polyphagia |
ORPHA:251004 |
| Alg12-Cdg |
|
Muscular ventricular septal defect, Patent foramen ovale, Hyponatremia, Recurrent hypoglycemia, H... |
ORPHA:79324 |
| Late-Onset Isolated Acth Deficiency |
|
Anorexia, Hyperuricemia, Hypoglycemia, Hyponatremia, Decreased circulating cortisol level, Hyperc... |
ORPHA:199299 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Transient hyperlipidemia, Hepatomegaly, Hypoglycemia, Hypertrophic cardiomyopathy |
ORPHA:156 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyperkalemia, Hyponatremia, Hypoglycemia, Decreased circulating cortisol level |
OMIM:614736 |
| Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hypercalcemia |
OMIM:239199 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Steatorrhea, Hepatomegaly, Cardiomyopathy, Pericardial effusion, Pericarditis, Hypoalbuminemia, H... |
OMIM:212065 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypocalcemia, Hypocalcemic seizures, Diabetes mellitus, Abnormal heart morphology |
ORPHA:2237 |
| Citrullinemia Type Ii |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypercholesterolemia... |
ORPHA:247585 |
| Hypercalcemia, Infantile, 1 |
|
Hypercalcemia |
OMIM:143880 |
| Congenital Isolated Acth Deficiency |
|
Hyponatremia, Neonatal hypoglycemia, Decreased circulating cortisol level, Hypoglycemic seizures |
ORPHA:199296 |
| Hypophosphatasia |
|
Hypercalcemia |
ORPHA:436 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypercalcemia |
OMIM:614732 |
| Rhabdoid Tumor |
|
Hypercalcemia |
ORPHA:69077 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Steatorrhea, Hepatomegaly, Increased circulating free fatty acid level, Hypophosphatemia, Hypogly... |
OMIM:605911 |
| Acute Adrenal Insufficiency |
|
Anorexia, Hyperkalemia, Hyperuricemia, Increased circulating renin level, Hyponatremia, Decreased... |
ORPHA:95409 |
| Kaufman Oculocerebrofacial Syndrome |
|
Astigmatism, Microcornea, Hypocholesterolemia, Atrial septal defect, Ventricular septal defect |
OMIM:244450 |
| Hemochromatosis, Type 3 |
|
Elevated transferrin saturation, Increased circulating ferritin concentration, Increased circulat... |
OMIM:604250 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Decreased circulating car... |
ORPHA:71212 |
| Autosomal Dominant Hypocalcemia |
|
Hypocalcemia, Hyperphosphatemia, Hypomagnesemia |
ORPHA:428 |
| Hemochromatosis, Type 1 |
|
Hepatomegaly, Glucose intolerance, Cardiomyopathy, Diabetes mellitus, Increased circulating iron ... |
OMIM:235200 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Hypoketotic hypoglycemia, Transient hyperlipidemia, Elevated circulating creatine k... |
OMIM:255120 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Compulsive behaviors, Hypercalcemia, Motor stereotypy, Attention deficit hyperactivity disorder, ... |
ORPHA:476126 |
| Hyperparathyroidism, Neonatal Severe |
|
Polydipsia, Calcinosis, Hepatomegaly, Hypercalcemia, Hypophosphatemia, Splenomegaly |
OMIM:239200 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Unconjugated hyperbilirubinemia, Increased circulating iron concentration, Splenomegaly, Elevated... |
ORPHA:766 |
| Ethylene Glycol Poisoning |
|
Hypocalcemia, Hyperkalemia, Addictive alcohol use |
ORPHA:31826 |
| Hypomagnesemia 3, Renal |
|
Polydipsia, Astigmatism, Hypocalcemic seizures, Increased circulating beta-C-terminal telopeptide... |
OMIM:248250 |
| Igg4-Related Thyroid Disease |
|
Hypocalcemia, Dysphagia |
ORPHA:64744 |
| Dubowitz Syndrome |
|
Hyperactivity, Megalocornea, Hypoplasia of the iris, Hypocholesterolemia, Iris coloboma |
OMIM:223370 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Hypokalemia, Hypomagnesemia, Self-biting |
OMIM:618314 |
| Familial Isolated Hyperparathyroidism |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:99879 |
| Thymic Neuroendocrine Tumor |
|
Hypercalcemia, Increased circulating cortisol level |
ORPHA:97289 |
| Exfoliation Syndrome |
|
Mydriasis, Phakodonesis, Iris hypoperfusion, Anisocoria, Pigment deposition in the trabecular mes... |
OMIM:177650 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Increased total iron binding capacity, Increased serum bile acid concentration, Hyp... |
OMIM:616278 |
| Cartilage-Hair Hypoplasia |
|
Hypocalcemia, Hepatomegaly, Cardiomyopathy, Abnormal cardiac septum morphology |
ORPHA:175 |
| 22Q11.2 Deletion Syndrome |
|
Corneal neovascularization, Tricuspid atresia, Abnormal aortic valve morphology, Hypocalcemia, Tr... |
ORPHA:567 |
| Hypophosphatasia, Infantile |
|
Anorexia, Hypercalcemia, Elevated plasma pyrophosphate |
OMIM:241500 |
| Hyperparathyroidism 2 With Jaw Tumors |
|
Hypercalcemia |
OMIM:145001 |
| Dietary Iron Overload Disease |
|
Hepatomegaly, Elevated hepatic iron concentration, Diabetes mellitus, Abnormal heart morphology, ... |
ORPHA:139507 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Elevated creatine kinase after exercise, Hypercalcemia |
ORPHA:284426 |
| Non-Functioning Paraganglioma |
|
Hypercalcemia |
ORPHA:94080 |
| Craniofacioskeletal Syndrome |
|
Hypocalcemia, Atrial septal defect, Ventricular septal defect |
OMIM:300712 |
| Monosomy 13Q34 |
|
Pulmonic stenosis, Common atrium, Insulin resistance, Hypercalcemia |
ORPHA:96168 |
| Liver Disease, Severe Congenital |
|
Left atrial enlargement, Increased circulating ferritin concentration, Hepatomegaly, Hypocalcemia... |
OMIM:619991 |
| Multiple Endocrine Neoplasia, Type I |
|
Hypoglycemia, Hypercalcemia, Increased circulating cortisol level |
OMIM:131100 |
| Secondary Intestinal Lymphangiectasia |
|
Decreased circulating prealbumin concentration, Secondary hyperaldosteronism, Reduced circulating... |
ORPHA:90363 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hypocalcemia, Hyperbilirubinemia, Atrial septal defect, Ventricular septal defect |
ORPHA:163979 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Hair-pulling, Nail-biting, Hypocalcemia, Polyphagia, Fixated interests, Motor stereotypy, Attenti... |
OMIM:620330 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Abnormality of iron homeostasis, Cardiomyopathy, Diabetes mellitus, Hyperglycemia, ... |
ORPHA:465508 |
| Addison Disease |
|
Anorexia, Hyperkalemia, Hyperuricemia, Hypoglycemia, Increased circulating renin level, Hyponatre... |
ORPHA:85138 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Myocarditis, Hyperkalemia, Hypocalcemia, Hyponatremia, Diabetes mellitus |
ORPHA:544482 |
| Dysbetalipoproteinemia |
|
Corneal arcus, Xanthelasma, Hypertriglyceridemia, Hepatomegaly, Decreased HDL cholesterol concent... |
ORPHA:412 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... |
ORPHA:247598 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Polydipsia, Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
| Beta-Thalassemia |
|
Abnormality of iron homeostasis, Hepatomegaly, Splenomegaly, Hypertrophic cardiomyopathy |
ORPHA:848 |
| Aceruloplasminemia |
|
Aceruloplasminemia, Diabetes mellitus, Increased circulating ferritin concentration, Decreased ci... |
OMIM:604290 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Hypercalcemia, Hyperphosphatemia, Conjunctival whitish salt-like deposits |
OMIM:211900 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia |
OMIM:612089 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hypocalcemia, Hypoalbuminemia, Hypoglycemia, Unconjugated hyperbilirubinemia |
OMIM:613658 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Neonatal hypoglycemia, Hyperactivity, Recurrent hand flapping, Pulmonic stenosis, Motor stereotyp... |
OMIM:617600 |
| Infantile Myofibromatosis |
|
Hypercalcemia |
ORPHA:2591 |
| Glucose-Galactose Malabsorption |
|
Hypernatremia, Hypercalcemia |
ORPHA:35710 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Hypocalcemia, Hypophosphatemia, Splenomegaly, Abnormal pulmonary valve morphology |
ORPHA:667 |
| Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145980 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Elevated hepatic iron concentration, Splenomegaly, Elevated transferrin saturation,... |
OMIM:615234 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Elevated hepatic iron concentration, Increased circulating iron concentration |
OMIM:206100 |
| Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145981 |
| Hennekam Syndrome |
|
Hypocalcemia, Pericardial effusion, Splenomegaly |
ORPHA:2136 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypertriglyceridemia, Astigmatism, Restrictive cardiomyopathy, Abnormal heart morphology, Hyperca... |
ORPHA:369837 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hepatomegaly, Hypouricemia, Glycosuria, Hypophosphatemia, Hypoglycemia, Diabetes mellitus |
OMIM:616026 |
| Vipoma |
|
Anorexia, Hepatomegaly, Hypokalemia, Hypercalcemia, Diabetes mellitus, Increased circulating cort... |
ORPHA:97282 |
| Smith-Lemli-Opitz Syndrome |
|
Atrial septal defect, Hepatomegaly, Hyperactivity, Hypertrophic cardiomyopathy, Elevated circulat... |
OMIM:270400 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Hypercalcemia |
OMIM:171420 |
| Somatostatinoma |
|
Anorexia, Steatorrhea, Hepatomegaly, Hypercalcemia, Diabetes mellitus, Increased circulating cort... |
ORPHA:97283 |
| Hyperlipoproteinemia, Type I |
|
Lactescent serum, Increased circulating chylomicron concentration, Hyperlipidemia, Hepatosplenome... |
OMIM:238600 |
| Pheochromocytoma |
|
Hypercalcemia, Developmental cataract |
OMIM:171300 |
| Cranioectodermal Dysplasia 1 |
|
Bicuspid aortic valve, Hepatomegaly, Hypocalcemia |
OMIM:218330 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Hyperphosphatemia, Hypocalcemic seizures, Developmental cataract, Hypocalcemic tetany |
ORPHA:93325 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Transposition of the great arteries, Muscular ventricular septal defect, Hypocalcemia, Ventricula... |
OMIM:619503 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypermagnesemia, Hypercalcemia, Hypophosphatemia |
OMIM:600740 |
| Digeorge Syndrome |
|
Hypocalcemia, Truncus arteriosus, Posterior embryotoxon, Sclerocornea, Splenomegaly, Tetralogy of... |
OMIM:188400 |
| Exercise-Induced Malignant Hyperthermia |
|
Hypocalcemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemia |
ORPHA:466650 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypercalcemia, Hypophosphatemia |
OMIM:156400 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Hypocalcemia, Hepatomegaly, Elevated circulating creatine kinase concentration |
ORPHA:2785 |
| Glucagonoma |
|
Anorexia, Steatorrhea, Hepatomegaly, Hypercalcemia, Diabetes mellitus, Increased circulating cort... |
ORPHA:97280 |
| Gracile Syndrome |
|
Decreased transferrin saturation, Increased circulating ferritin concentration, Elevated hepatic ... |
ORPHA:53693 |
| Hypermanganesemia With Dystonia 1 |
|
Hypermanganesemia, Hepatomegaly, Increased total iron binding capacity, Unconjugated hyperbilirub... |
OMIM:613280 |
| Fibrous Dysplasia Of Bone |
|
Diabetes mellitus, Hypercalcemia, Hypophosphatemia, Increased circulating cortisol level |
ORPHA:249 |
| Paget Disease Of Bone 2, Early-Onset |
|
Hypercalcemia |
OMIM:602080 |
| Charge Syndrome |
|
Hypocalcemia, Pulmonic stenosis, Secundum atrial septal defect, Tetralogy of Fallot, Dysphagia, D... |
OMIM:214800 |
| Ppoma |
|
Anorexia, Hepatomegaly, Hypercalcemia, Increased circulating cortisol level |
ORPHA:97278 |
| Spinal Cord Injury |
|
Hypercalcemia |
ORPHA:90058 |
| Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Hypokalemia, Hypochloremia, Increased serum prostaglandin E2, Increased circula... |
OMIM:601678 |
| Beta-Thalassemia Intermedia |
|
Hepatomegaly, Abnormality of iron homeostasis, Elevated hepatic iron concentration, Hepatosplenom... |
ORPHA:231222 |
| Familial Hypocalciuric Hypercalcemia |
|
Hypermagnesemia, Renal hypophosphatemia, Hypocalcemic seizures, Hypercalcemia |
ORPHA:405 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypercalcemia |
ORPHA:276621 |
| Johanson-Blizzard Syndrome |
|
Situs inversus totalis, Atrial septal defect, Hepatomegaly, Conjunctival icterus, Hypocalcemia, I... |
OMIM:243800 |
| Multiple Myeloma |
|
Elevated circulating creatinine concentration, Hypercalcemia, Splenomegaly, Hyperproteinemia |
ORPHA:29073 |
| Grfoma |
|
Anorexia, Hepatomegaly, Hypercalcemia, Increased circulating cortisol level |
ORPHA:97261 |
| Multiple Endocrine Neoplasia Type 4 |
|
Increased glucagon level, Hypercalcemia, Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia,... |
ORPHA:276152 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Hypercalcemia, Aniridia |
ORPHA:29072 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Decreased transferrin saturation, Elevated hepatic iron concentration, Increased circulating iron... |
ORPHA:300298 |
| Zollinger-Ellison Syndrome |
|
Increased glucagon level, Hypercalcemia, Increased circulating cortisol level |
ORPHA:913 |
| Williams Syndrome |
|
Abnormal circulating lipid concentration, Corneal opacity, Pulmonic stenosis, Mitral valve prolap... |
ORPHA:904 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Hypocalcemic seizures, Hypophosphatemia |
OMIM:277440 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Hypocalcemic tetany |
ORPHA:83471 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Polydipsia, Hypophosphatemia, Hypercalcemia, Dysphagia |
ORPHA:99880 |
| Parathyroid Carcinoma |
|
Polydipsia, Hypophosphatemia, Hypercalcemia, Dysphagia |
ORPHA:143 |
| Dominant Beta-Thalassemia |
|
Abnormality of iron homeostasis, Hepatosplenomegaly, Splenomegaly, Dilated cardiomyopathy, Diabet... |
ORPHA:231226 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Increased total iron binding capacity, Hepatomegaly, Abnormal blood inorganic cation concentratio... |
ORPHA:309854 |
| Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Abnormality of iron homeostasis, Hypergalactosemia, Pulmonic stenosis, Increased ci... |
OMIM:222470 |
| Histidinemia |
|
Hyperactivity, Hyperhistidinemia |
ORPHA:2157 |
| Beta-Thalassemia Major |
|
Hepatomegaly, Abnormality of iron homeostasis, Hepatosplenomegaly, Splenomegaly, Dilated cardiomy... |
ORPHA:231214 |
| Williams-Beuren Syndrome |
|
Obsessive-compulsive trait, Myxomatous mitral valve degeneration, Bicuspid aortic valve, Glucose ... |
OMIM:194050 |
| Multiple Endocrine Neoplasia Type 2 |
|
Hypercalcemia, Prominent corneal nerve fibers |
ORPHA:653 |
| Multiple Endocrine Neoplasia Type 1 |
|
Anorexia, Hypercalcemia, Primary hypercortisolism, Increased circulating cortisol level |
ORPHA:652 |
| Syndromic Diarrhea |
|
Hepatomegaly, Abnormality of iron homeostasis, Abnormal heart morphology, Tetralogy of Fallot, Sp... |
ORPHA:84064 |
| Sotos Syndrome |
|
Neonatal hypoglycemia, Astigmatism, Attention deficit hyperactivity disorder, Abnormal heart morp... |
ORPHA:821 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Hypocalcemic seizures, Hepatomegaly, Splenomegaly |
OMIM:612301 |
| Sarcoidosis |
|
Hepatomegaly, Hypercalcemia, Cataract, Abnormal conjunctiva morphology, Keratoconjunctivitis sicca |
ORPHA:797 |
