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