Familial Apolipoprotein Gene Cluster Deletion Syndrome |
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Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
Lipodystrophy, Congenital Generalized, Type 3 |
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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 |
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Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
Glycogen Storage Disease Vi |
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Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia, Hypoglycemia |
OMIM:232700 |
Hypoparathyroidism, Familial Isolated, 2 |
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Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
OMIM:618883 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
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Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... |
OMIM:616834 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
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Hypertriglyceridemia, Hypoglycemia |
ORPHA:366 |
Hypoparathyroidism, Familial Isolated, 1 |
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Cataract, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
OMIM:146200 |
Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Steatorrhea, Hypotriglyceridemia, Hypocholesterolemia, H... |
OMIM:246700 |
Hypertriglyceridemia 2 |
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Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
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Hyperammonemia, Atrial septal defect, Attention deficit hyperactivity disorder, Increased C-pepti... |
OMIM:620211 |
Myopathy, Tubular Aggregate, 2 |
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Hypocalcemia, Elevated circulating creatine kinase concentration |
OMIM:615883 |
Progressive Familial Intrahepatic Cholestasis |
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Hepatomegaly, Hypocalcemia, Splenomegaly |
ORPHA:172 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
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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 |
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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 |
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Hypokalemia, Hypocalcemia, Dilated cardiomyopathy, Hyponatremia, Hypomagnesemia |
OMIM:620152 |
Pseudohypoparathyroidism, Type Ii |
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Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Hyperlysinemia, Type I |
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Hyperactivity, Ectopia lentis, Hyperlysinemia |
OMIM:238700 |
Vitamin D-Dependent Rickets, Type 3 |
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Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
Timothy Syndrome |
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Tetralogy of Fallot, Ventricular septal defect, Hypocalcemia, Patent foramen ovale, Cardiomegaly,... |
OMIM:601005 |
Xanthomatosis, Susceptibility To |
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Hypercholesterolemia |
OMIM:602247 |
Hyperinsulinism Due To Insr Deficiency |
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Recurrent hypoglycemia, Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, H... |
ORPHA:263458 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
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Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia |
ORPHA:2239 |
Fish-Eye Disease |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... |
OMIM:136120 |
Sitosterolemia 2 |
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Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Cholesterol-Ester Transfer Protein Deficiency |
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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 |
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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 |
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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 |
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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 |