Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... |
OMIM:620058 |
Hyperparathyroidism 4 |
|
Osteopenia, Parathyroid carcinoma, Primary hyperparathyroidism |
OMIM:617343 |
Enterokinase Deficiency |
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Hypoproteinemia |
OMIM:226200 |
Mccune-Albright Syndrome |
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Precocious puberty, Craniofacial hyperostosis, Hyperparathyroidism, Pituitary adenoma, Increased ... |
OMIM:174800 |
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion |
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Abnormality of the parathyroid gland, Secondary hyperparathyroidism |
ORPHA:140286 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
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Hypoglycemia, Hypertriglyceridemia |
ORPHA:366 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:619324 |
Pancreatic Lipase Deficiency |
|
Steatorrhea, Hypocholesterolemia |
OMIM:614338 |
Cholesterol-Ester Transfer Protein Deficiency |
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Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... |
ORPHA:79506 |
Gastritis, Familial Giant Hypertrophic |
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Hypoproteinemia |
OMIM:137280 |
Glycogen Storage Disease Vi |
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Hyperlipidemia, Hypertriglyceridemia, Hypoglycemia, Hypercholesterolemia |
OMIM:232700 |
Hyperinsulinism Due To Insr Deficiency |
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Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ... |
ORPHA:263458 |
Parathyroid Carcinoma |
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Hyperparathyroidism, Parathyroid carcinoma |
OMIM:608266 |
Osteopetrosis, Autosomal Recessive 9 |
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Hyperparathyroidism, Cortical sclerosis, Pathologic fracture, Osteopetrosis, Increased bone miner... |
OMIM:620366 |
Osteopetrosis, Autosomal Dominant 3 |
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Hyperparathyroidism, Osteopenia, Recurrent fractures |
OMIM:618107 |
Chylomicron Retention Disease |
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Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Decreased LDL cholesterol concentratio... |
OMIM:246700 |
Hyperparathyroidism, Primary, Caused By Water Clear Cell Hyperplasia |
|
Primary hyperparathyroidism |
OMIM:600166 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
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Hypoproteinemia |
OMIM:221400 |
Xanthomatosis, Susceptibility To |
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Hypercholesterolemia |
OMIM:602247 |
Multiple Endocrine Neoplasia, Type Iv |
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Hyperparathyroidism, Pituitary adenoma, Hashimoto thyroiditis, Hypothyroidism, Carcinoid tumor, E... |
OMIM:610755 |
Thymic Neuroendocrine Tumor |
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Osteopenia, Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin cell ade... |
ORPHA:97289 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
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Hyperparathyroidism, Bone cyst |
ORPHA:2668 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
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Hypoproteinemia |
OMIM:207731 |
Hypophosphatemic Rickets And Hyperparathyroidism |
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Hyperparathyroidism, Rickets, Elevated circulating parathyroid hormone level, Hypophosphatemic ri... |
OMIM:612089 |
Hyperparathyroidism 1 |
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Primary hyperparathyroidism |
OMIM:145000 |
Hypocalcemic Vitamin D-Resistant Rickets |
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Hyperparathyroidism, Coarse metaphyseal trabecularization, Osteomalacia, Recurrent fractures, Bon... |
ORPHA:93160 |
Familial Isolated Hyperparathyroidism |
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Osteopenia, Elevated circulating parathyroid hormone level, Parathyroid adenoma, Generalized oste... |
ORPHA:99879 |
Congenital Glucokinase-Related Hyperinsulinism |
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Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating ... |
ORPHA:79299 |
Hyperparathyroidism 2 With Jaw Tumors |
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Hyperparathyroidism, Parathyroid carcinoma, Pancreatic adenocarcinoma, Recurrent pancreatitis, Pa... |
OMIM:145001 |
Nephrotic Syndrome, Type 1 |
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Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia |
OMIM:256300 |
Congenital Analbuminemia |
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Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin |
ORPHA:86816 |
Sitosterolemia 2 |
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Hypercholesterolemia, Elevated circulating sitosterol concentration |
OMIM:618666 |
Thyroid Hormone Metabolism, Abnormal, 2 |
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Hypercholesterolemia |
OMIM:619855 |
Lymphangiectasia, Intestinal |
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Neonatal hypoproteinemia |
OMIM:152800 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Hypoproteinemia |
ORPHA:1116 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypercholesterolemia, Hypoglycemic seizures, Incr... |
OMIM:620211 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
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Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas... |
OMIM:267700 |
Thyroid Hemiagenesis |
|
Hyperparathyroidism, Thyroid adenoma, Follicular thyroid carcinoma, Graves disease, Elevated circ... |
ORPHA:95719 |
Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia |
OMIM:619155 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
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Hypocholesterolemia, Decreased LDL cholesterol concentration, Decreased HDL cholesterol concentra... |
OMIM:616834 |
Immunodeficiency 43 |
|
Hypoalbuminemia, Decreased circulating beta-2-microglobulin level, Hypoproteinemia |
OMIM:241600 |
Citrullinemia Type Ii |
|
Hypoalbuminemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Acute hyperammonemia, H... |
ORPHA:247585 |
Calciphylaxis |
|
Ectopic ossification, Secondary hyperparathyroidism |
ORPHA:280062 |
Hyperlipidemia, Familial Combined, 3 |
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Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... |
OMIM:144250 |
Pancreatic insufficiency, combined exocrine |
|
Hypoproteinemia |
OMIM:260450 |
Pendred Syndrome |
|
Hyperparathyroidism, Hypothyroidism, Thyroid carcinoma, Goiter |
ORPHA:705 |
Hypercholesterolemia, Familial, 4 |
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Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:603813 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
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Craniosynostosis, Hypophosphatemic rickets, Rickets, Increased bone mineral density |
OMIM:241520 |
Hyperlipoproteinemia, Type Ii, And Deafness |
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Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased LDL cholesterol concentra... |
OMIM:615558 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypocholesterolemia |
OMIM:610539 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Hypoketotic hypoglycemia, Hyperammonemia, Hypocalcem... |
ORPHA:26793 |
Multiple Endocrine Neoplasia, Type Iia |
|
Thyroid C cell hyperplasia, Hyperparathyroidism, Increased circulating cortisol level, Pheochromo... |
OMIM:171400 |
Autoimmune Polyendocrinopathy Type 2 |
|
Type I diabetes mellitus, Graves disease, Hypogonadism, Abnormality of the thyroid gland, Primary... |
ORPHA:3143 |
Multiple Endocrine Neoplasia Type 4 |
|
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... |
ORPHA:276152 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hyperparathyroidism |
OMIM:239199 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
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Delayed epiphyseal ossification, Rickets, Elevated circulating parathyroid hormone level, Seconda... |
OMIM:264700 |
Hypoparathyroidism, X-Linked |
|
Congenital hypoparathyroidism |
OMIM:307700 |
Vitamin D-Dependent Rickets, Type 2A |
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Delayed epiphyseal ossification, Rickets, Elevated circulating parathyroid hormone level, Seconda... |
OMIM:277440 |
Refractory Celiac Disease |
|
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia |
ORPHA:398063 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hypoalbuminemia, Increased total bilirubin, Increased circulating ferritin concentration, Hyponat... |
OMIM:603553 |
Ménétrier Disease |
|
Hypoalbuminemia, Hypoproteinemia |
ORPHA:2494 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
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Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Increased urina... |
ORPHA:189427 |
Medullary Thyroid Carcinoma |
|
Elevated circulating calcitonin concentration, Pheochromocytoma, Medullary thyroid carcinoma, Hyp... |
ORPHA:1332 |
Insulinoma |
|
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... |
ORPHA:97279 |
Glycogen Storage Disease Ixa1 |
|
Hypoglycemia, Hypercholesterolemia, Hyperuricemia, Hypertriglyceridemia |
OMIM:306000 |
Neonatal Hemochromatosis |
|
Increased circulating iron concentration, Hypoglycemia, Increased circulating ferritin concentration |
ORPHA:446 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:610021 |
Dengue Fever |
|
Hypoproteinemia |
ORPHA:99828 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Hypoproteinemia |
OMIM:608093 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hyperparathyroidism, Pancreatitis, Parathyroid adenoma |
OMIM:145980 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hypoglycemia, Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoalbuminemia, Hypoproteinemia |
OMIM:226300 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed epiphyseal ossification, Rickets, Elevated circulating parathyroid hormone level, Osteoma... |
ORPHA:289157 |
Progressive Osseous Heteroplasia |
|
Ectopic ossification in muscle tissue, Limitation of joint mobility, Abnormality of the parathyro... |
ORPHA:2762 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Maturity-onset diabetes of the young, Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypogl... |
ORPHA:324575 |
Primary Intestinal Lymphangiectasia |
|
Hypoalbuminemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia |
ORPHA:90362 |
Johanson-Blizzard Syndrome |
|
Hypoproteinemia, Diabetes mellitus |
ORPHA:2315 |
Diabetes Mellitus, Permanent Neonatal, 4 |
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Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet... |
OMIM:618858 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Hyperinsulinemic hypoglycemia, Asymptomatic hyperammonemia, Reactive hypoglycemia, Fasting hyperi... |
ORPHA:35878 |
Zollinger-Ellison Syndrome |
|
Hyperparathyroidism, Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Pi... |
ORPHA:913 |
Diarrhea 13 |
|
Hypoalbuminemia, Recurrent hypoglycemia |
OMIM:620357 |
Hyperparathyroidism, Transient Neonatal |
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Osteopenia, Fractured rib, Hyperparathyroidism, Ovarian cyst, Subperiosteal bone formation, Recur... |
OMIM:618188 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Delayed epiphyseal ossification, Rickets, Elevated circulating parathyroid hormone level, Rickets... |
OMIM:600785 |
Hypophosphatemic Bone Disease |
|
Rickets, Osteomalacia |
OMIM:146350 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
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Hyperparathyroidism, Hyperostosis, Subperiosteal bone formation |
OMIM:211900 |
Autoimmune Polyendocrinopathy Type 1 |
|
Abnormal circulating calcium-phosphate regulating hormone concentration, Increased circulating co... |
ORPHA:3453 |
Familial Visceral Myopathy |
|
Hyperparathyroidism, Joint stiffness, Camptodactyly of finger |
ORPHA:2604 |
Hypophosphatasia, Adult |
|
Rickets, Osteomalacia, Pathologic fracture, Increased susceptibility to fractures, Recurrent frac... |
OMIM:146300 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Primary hyperparathyroidism, Pancreatitis, Osteomalacia |
OMIM:600740 |
Hypercholanemia, Familial 1 |
|
Steatorrhea, Rickets |
OMIM:607748 |
Peroxisome Biogenesis Disorder 3B |
|
Steatorrhea, Elevated circulating phytanic acid concentration, Hypocholesterolemia |
OMIM:266510 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Hyperglycemia, Transient neonatal diabetes mellitus, Reduced C-peptide level, Maternal diabetes, ... |
OMIM:610582 |
Multiple Endocrine Neoplasia Type 1 |
|
Increased serum serotonin, Increased circulating cortisol level, Pituitary prolactin cell adenoma... |
ORPHA:652 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Hypoglycemia, Hyperammonemia, Abnormal circulating leucine concentration |
ORPHA:6 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Steatorrhea, Hypocholesterolemia, Conjugated hyperbilirubinemia |
OMIM:607765 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hypoproteinemia, Hypocalcemia |
OMIM:235255 |
Potocki-Lupski Syndrome |
|
Hypocholesterolemia |
OMIM:610883 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618838 |
Omenn Syndrome |
|
Hypoproteinemia |
OMIM:603554 |
Hepatic Lipase Deficiency |
|
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:614025 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hypoproteinemia, Elevated circulating creatine kinase concentration |
OMIM:615895 |
Squalene Synthase Deficiency |
|
Hypocholesterolemia, Decreased LDL cholesterol concentration, Elevated circulating methylsuccinic... |
OMIM:618156 |
Glycogen Storage Disease Iii |
|
Hyperlipidemia, Hypoglycemia, Elevated circulating creatine kinase concentration |
OMIM:232400 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Cortical thickening of long bone diaphyses, Congenital hypoparathyroidism, Calvarial osteoscleros... |
ORPHA:93324 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Rickets, Osteomalacia |
OMIM:193100 |
Beta-Thalassemia Intermedia |
|
Osteopenia, Cholelithiasis, Hypogonadism, Adrenal insufficiency, Increased susceptibility to frac... |
ORPHA:231222 |
Gaisböck Syndrome |
|
Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinemia, Diabetes mellitus, I... |
ORPHA:90041 |
Congenital Disorder Of Glycosylation, Type Il |
|
Hypoalbuminemia, Hypocholesterolemia |
OMIM:608776 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hypoproteinemia, Hypocalcemia |
ORPHA:1655 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Elevated circulating sebacic acid concentration, Elevated circulating suberic acid concentration,... |
OMIM:615160 |
Helix Syndrome |
|
Hyperparathyroidism, Hypohidrosis, Xerostomia, Anhidrosis |
OMIM:617671 |
Ppoma |
|
Cholelithiasis, Intestinal carcinoid, Pituitary adenoma, Increased circulating cortisol level, In... |
ORPHA:97278 |
Propionic Acidemia |
|
Hyperammonemia, Hypoglycemia |
ORPHA:35 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Type I diabetes mellitus, Hypocholesterolemia, Abetalipoproteinemia, Elevated circulating creatin... |
ORPHA:96180 |
Somatostatinoma |
|
Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolactin concentr... |
ORPHA:97283 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria |
ORPHA:2089 |
Grfoma |
|
Cholelithiasis, Intestinal carcinoid, Pituitary adenoma, Increased circulating cortisol level, In... |
ORPHA:97261 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Elevated circulating parathyroid hormone level, Pancreatic adenocarcinoma, Abnormal parathyroid m... |
ORPHA:99880 |
Hyperparathyroidism, Neonatal Severe |
|
Elevated circulating parathyroid hormone level, Recurrent fractures, Primary hyperparathyroidism |
OMIM:239200 |
Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
Chylomicron Retention Disease |
|
Steatorrhea, Hypocholesterolemia |
ORPHA:71 |
Parathyroid Carcinoma |
|
Elevated circulating parathyroid hormone level, Parathyroid carcinoma, Pancreatic adenocarcinoma,... |
ORPHA:143 |
Ornithine Transcarbamylase Deficiency |
|
Hyperammonemia, Hypoglycemia |
ORPHA:664 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Increased circulating cortisol level, Recurrent hypoglycemia, Hyperinsulinemic hypoglycemia, Neon... |
ORPHA:79644 |
Vipoma |
|
Follicular thyroid carcinoma, Pituitary adenoma, Increased circulating cortisol level, Increased ... |
ORPHA:97282 |
Chédiak-Higashi Syndrome |
|
Hyponatremia, Hypoproteinemia, Increased circulating ferritin concentration, Hypertriglyceridemia |
ORPHA:167 |
Renal Tubular Acidosis, Proximal |
|
Rickets, Osteomalacia |
OMIM:179830 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Increased circulating 18-hydroxycortisone level, Hyponatremia, Increased circulating corticostero... |
OMIM:610600 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Pancreatitis, Primary hyperparathyroidism |
OMIM:145981 |
Late-Onset Isolated Acth Deficiency |
|
Type I diabetes mellitus, Pituitary adenoma, Graves disease, Adrenocorticotropin deficient adrena... |
ORPHA:199299 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hypocholesterolemia |
OMIM:618810 |
Hemochromatosis, Neonatal |
|
Abnormality of iron homeostasis, Increased circulating iron concentration, Hypoglycemia, Increase... |
OMIM:231100 |
Multiple Endocrine Neoplasia Type 2 |
|
Thyroid C cell hyperplasia, Elevated circulating calcitonin concentration, Elevated circulating p... |
ORPHA:653 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hypoparathyroidism, Decreased circulating parathyroid hormone level |
OMIM:146200 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyperaldosteronism, Hyperkalemia, Hyponatremia, Increased circulating renin level |
OMIM:620126 |
Riboflavin Deficiency |
|
Elevated circulating acylcarnitine concentration, Hypoglycemia |
OMIM:615026 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Osteopenia, Pathologic fracture, Knee flexion contracture, Hip contracture, Hypoparathyroidism |
OMIM:156400 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Parathyroid agenesis, Congenital hypoparathyroidism |
ORPHA:2239 |
Glucagonoma |
|
Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolactin concentr... |
ORPHA:97280 |
Renal Tubular Acidosis Iii |
|
Rickets, Osteomalacia |
OMIM:267200 |
Kenny-Caffey Syndrome, Type 1 |
|
Congenital hypoparathyroidism, Calvarial osteosclerosis, Decreased skull ossification |
OMIM:244460 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration |
OMIM:603776 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Ost... |
ORPHA:534 |
Tyrosinemia Type 1 |
|
Rickets of the lower limbs |
ORPHA:882 |
Apolipoprotein C-Ii Deficiency |
|
Hypercholesterolemia, Decreased circulating apolipoprotein C-II concentration, Increased circulat... |
OMIM:207750 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyperaldosteronism, Hyperkalemia, Hyponatremia, Increased circulating renin level |
OMIM:620125 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Male hypogonadism, Cholelithiasis, Type I diabetes mellitus, Adrenal insufficiency, Primary adren... |
OMIM:240300 |
Hypokalemic Tubulopathy And Deafness |
|
Hyperaldosteronism, Increased circulating renin level |
OMIM:619406 |
Sanjad-Sakati Syndrome |
|
Hypoparathyroidism, Patchy osteosclerosis, Congenital hypoparathyroidism, Cryptorchidism |
ORPHA:2323 |
Bile Acid Conjugation Defect 1 |
|
Rickets |
OMIM:619232 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hyperglycemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hypercholester... |
OMIM:615812 |
Familial Isolated Hypoparathyroidism |
|
Hypoparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration |
ORPHA:2238 |
Mccune-Albright Syndrome |
|
Increased circulating cortisol level, Increased circulating prolactin concentration, Osteomalacia... |
ORPHA:562 |
Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Rickets, Elevated circulating parathyroid hormone level, Osteomalacia, Recurrent frac... |
OMIM:613388 |
Pseudopseudohypoparathyroidism |
|
Osteoporosis, Pseudohypoparathyroidism |
OMIM:612463 |
Dahlberg-Borer-Newcomer Syndrome |
|
Hypoparathyroidism, Hypothyroidism, Hypohidrosis |
ORPHA:1563 |
Autoimmune Hypoparathyroidism |
|
Increased bone mineral density, Autoimmune hypoparathyroidism |
ORPHA:36913 |
Hypercholesterolemia, Familial, 2 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144010 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperparathyroidism, Osteopenia, Hyperaldosteronism, Hyperactive renin-angiotensin system, Increa... |
OMIM:601678 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Decreased circulating parathyroid hormone level, Osteomalacia, Pathologic fracture, Hypophosphate... |
ORPHA:157215 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Patchy osteosclerosis, Decreased response to growth hormone stimulation test, Cryptorchidism, Con... |
OMIM:241410 |
Hemophagocytic Syndrome Associated With An Infection |
|
Hyperproteinemia, Increased circulating ferritin concentration, Hypertriglyceridemia |
ORPHA:158048 |
Fibrous Dysplasia Of Bone |
|
Precocious puberty in females, Rickets, Increased circulating cortisol level, Osteomalacia, Corti... |
ORPHA:249 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hypoglycemic seizures, Neonatal hypoglycemia |
ORPHA:199296 |
Infantile Systemic Hyalinosis |
|
Osteopenia, Aplasia/Hypoplasia of the thymus, Camptodactyly of finger, Osteomalacia, Joint stiffn... |
ORPHA:2176 |
Pseudohypoparathyroidism, Type Ii |
|
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism |
OMIM:203330 |
Glycogen Storage Disease Ixc |
|
Hypoglycemia, Fasting hypoglycemia, Hypertriglyceridemia |
OMIM:613027 |
Dominant Beta-Thalassemia |
|
Hypopituitarism, Adrenal insufficiency, Hypothyroidism, Delayed puberty, Hypoparathyroidism, Oste... |
ORPHA:231226 |
Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level, Hyperka... |
ORPHA:556037 |
Addison Disease |
|
Thymoma, Type I diabetes mellitus, Androgen insufficiency, Adrenal calcification, Increased circu... |
ORPHA:85138 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Delayed epiphyseal ossification, Rickets, Osteomalacia, Hypophosphatemic rickets, Sparse bone tra... |
OMIM:300554 |
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Hypokalemia, Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circul... |
OMIM:241150 |
Mody |
|
Abnormal oral glucose tolerance, Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, ... |
ORPHA:552 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618835 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618839 |
Kenny-Caffey Syndrome, Type 2 |
|
Hypoparathyroidism, Thickened cortex of long bones, Increased bone mineral density |
OMIM:127000 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Delayed epiphyseal ossification, Rickets, Hypophosphatemic rickets, Sparse bone trabeculae, Thin ... |
OMIM:241530 |
Lymphedema-Hypoparathyroidism Syndrome |
|
Hypoparathyroidism |
OMIM:247410 |
Liver Disease, Severe Congenital |
|
Increased circulating ferritin concentration, Hyperbilirubinemia, Hypocalcemia, Hyperammonemia, H... |
OMIM:619991 |
Kearns-Sayre Syndrome |
|
Hypoparathyroidism, Primary adrenal insufficiency, Diabetes mellitus |
OMIM:530000 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Cholelithiasis, Rickets |
OMIM:211600 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hypoglycemia |
OMIM:614736 |
Autoimmune Polyendocrinopathy Type 3 |
|
Osteopenia, Thymoma, Rheumatoid arthritis, Xerostomia, Graves disease, Anterior pituitary dysgene... |
ORPHA:227982 |
Abetalipoproteinemia |
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Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Abnormal circulating apolipoprotein co... |
ORPHA:14 |
Early-Onset Familial Hypoaldosteronism |
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Hyponatremia, Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level, Hyperka... |
ORPHA:556030 |
Beta-Thalassemia Major |
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Hypopituitarism, Adrenal insufficiency, Hypothyroidism, Delayed puberty, Hypoparathyroidism, Oste... |
ORPHA:231214 |
Alg12-Cdg |
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Hyponatremia, Hypocholesterolemia, Recurrent hypoglycemia, Hypoalbuminemia |
ORPHA:79324 |
Secondary Intestinal Lymphangiectasia |
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Hypoalbuminemia, Secondary hyperaldosteronism, Reduced circulating transferrin concentration, Hyp... |
ORPHA:90363 |
Congenital Disorder Of Glycosylation, Type Ia |
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Hypoalbuminemia, Hypocholesterolemia, Steatorrhea |
OMIM:212065 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
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Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony cortex, Recurrent fra... |
OMIM:600081 |
Hamamy Syndrome |
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Osteopenia, Cryptorchidism, Hypoparathyroidism, Craniosynostosis, Recurrent fractures |
OMIM:611174 |
Pierson Syndrome |
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Hypoproteinemia |
OMIM:609049 |
Renal Tubular Acidosis, Distal, 1 |
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Pathologic fracture, Osteomalacia |
OMIM:179800 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
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Rickets |
OMIM:602722 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
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Osteoporosis, Type I diabetes mellitus, Rickets |
OMIM:560000 |
Pseudohypoparathyroidism Type 1B |
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Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Decrease... |
ORPHA:94089 |
Pseudohypoparathyroidism, Type Ia |
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Elevated circulating parathyroid hormone level, Hypogonadism, Pseudohypoparathyroidism, Hypothyro... |
OMIM:103580 |
Autosomal Dominant Hypophosphatemic Rickets |
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Rickets, Osteomalacia |
ORPHA:89937 |
Multiple Myeloma |
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Elevated circulating creatinine concentration, Hyperproteinemia, Hypercalcemia |
ORPHA:29073 |
Microlissencephaly-Micromelia Syndrome |
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Hypoparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration |
ORPHA:50810 |
Hypoadrenocorticism, Familial |
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Hyponatremia, Hyperkalemia, Hypoglycemia |
OMIM:240200 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
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Precocious puberty, Osteopenia, Joint hypermobility, Hypertriglyceridemia, Hypoparathyroidism, Cr... |
ORPHA:369837 |
Steinert Myotonic Dystrophy |
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Male hypogonadism, Cholelithiasis, Decreased response to growth hormone stimulation test, Decreas... |
ORPHA:273 |
Bangstad Syndrome |
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Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl... |
ORPHA:1227 |
Tangier Disease |
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Hypocholesterolemia, Hypertriglyceridemia |
ORPHA:31150 |
Osteopetrosis With Renal Tubular Acidosis |
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Secondary hyperparathyroidism, Osteopetrosis, Recurrent fractures |
ORPHA:2785 |
Pseudohypoparathyroidism, Type Ic |
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Elevated circulating parathyroid hormone level, Elevated circulating thyroid-stimulating hormone ... |
OMIM:612462 |
Cystinosis |
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Type I diabetes mellitus, Rickets, Hypothyroidism, Delayed puberty, Nephrogenic diabetes insipidus |
ORPHA:213 |
Brain-Lung-Thyroid Syndrome |
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Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Abnorm... |
ORPHA:209905 |
Dermatosparaxis Ehlers-Danlos Syndrome |
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Osteopenia, Rickets, Osteomalacia, Joint stiffness, Joint hypermobility, Osteoporosis |
ORPHA:1901 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
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Decreased response to growth hormone stimulation test, Contracture of the proximal interphalangea... |
OMIM:618223 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
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Conjugated hyperbilirubinemia, Hyperammonemia, Hypoglycemia, Elevated circulating alpha-fetoprote... |
OMIM:617049 |
Dent Disease 1 |
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Delayed epiphyseal ossification, Rickets, Osteomalacia, Sparse bone trabeculae, Thin bony cortex,... |
OMIM:300009 |
Hypophosphatemic Rickets, X-Linked Dominant |
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Rickets, Elevated circulating parathyroid hormone level, Osteomalacia, Hypophosphatemic rickets, ... |
OMIM:307800 |
Double Outlet Right Ventricle |
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Hypoparathyroidism, Aplasia/Hypoplasia of the thymus |
ORPHA:3426 |
Pseudohypoparathyroidism, Type Ib |
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Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism |
OMIM:603233 |
Fanconi Renotubular Syndrome 3 |
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Rickets |
OMIM:615605 |
Autosomal Dominant Kenny-Caffey Syndrome |
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Decreased testicular size, Abnormal circulating follicle-stimulating hormone concentration, Decre... |
ORPHA:93325 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
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Rickets |
OMIM:611590 |
Fanconi Renotubular Syndrome 1 |
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Rickets, Osteomalacia |
OMIM:134600 |
Pancreatic Triacylglycerol Lipase Deficiency |
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Rickets, Osteomalacia, Exocrine pancreatic insufficiency, Steatorrhea, Osteoporosis |
ORPHA:309031 |
Kaufman Oculocerebrofacial Syndrome |
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Hypocholesterolemia |
OMIM:244450 |
Melas |
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Type I diabetes mellitus, Type II diabetes mellitus, Hypogonadotropic hypogonadism, Recurrent pan... |
ORPHA:550 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
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Rickets |
OMIM:219900 |
Dubowitz Syndrome |
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Hypoparathyroidism, Craniosynostosis, Cryptorchidism, Joint hypermobility |
ORPHA:235 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
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Hypouricemia, Glycosuria, Hypoglycemia, Hypophosphatemia, Diabetes mellitus |
OMIM:616026 |
Fanconi-Bickel Syndrome |
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Osteopenia, Rickets, Hypertriglyceridemia, Diabetes mellitus |
ORPHA:2088 |
Mitochondrial Trifunctional Protein Deficiency |
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Hypoparathyroidism |
ORPHA:746 |
Celiac Disease, Susceptibility To, 1 |
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Type I diabetes mellitus, Rickets, Delayed puberty, Steatorrhea, Osteoporosis, Thyroiditis |
OMIM:212750 |
Pseudohypoparathyroidism Type 2 |
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Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism |
ORPHA:94090 |
Juvenile Polyposis Syndrome |
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Hypoproteinemia |
ORPHA:2929 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
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Rickets, Recurrent fractures |
OMIM:268315 |
Pituitary Hormone Deficiency, Combined, 6 |
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Hyperbilirubinemia, Neonatal hypoglycemia, Hypoglycemia |
OMIM:613986 |
Dubowitz Syndrome |
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Hypocholesterolemia |
OMIM:223370 |
Autosomal Recessive Hypophosphatemic Rickets |
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Abnormal trabecular bone morphology, Pseudo-fractures, Osteomalacia, Rickets of the lower limbs, ... |
ORPHA:289176 |
Wilson Disease |
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Osteomalacia, Joint hypermobility, Osteoarthritis, Hypoparathyroidism, Osteoporosis |
OMIM:277900 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
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Abnormality of the endocrine system, Cryptorchidism, Pseudohypoparathyroidism |
ORPHA:464288 |
Congenital Bile Acid Synthesis Defect Type 2 |
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Steatorrhea, Rickets |
ORPHA:79303 |
Verloove Vanhorick-Brubakk Syndrome |
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Tarsal synostosis, Abnormality of the parathyroid gland, Cryptorchidism |
ORPHA:3429 |
Pearson Syndrome |
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Decreased response to growth hormone stimulation test, Exocrine pancreatic insufficiency, Adrenal... |
ORPHA:699 |
22Q11.2 Deletion Syndrome |
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Cholelithiasis, Multiple suture craniosynostosis, Cryptorchidism, Joint hypermobility, Hypoplasia... |
ORPHA:567 |
Alport Syndrome 1, X-Linked |
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Hypoparathyroidism |
OMIM:301050 |
Bartter Syndrome, Type 5, Antenatal, Transient |
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Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level |
OMIM:300971 |
Neu-Laxova Syndrome |
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Osteopenia, Rickets, Osteomalacia, Hypogonadism, Osteoporosis, Flexion contracture, Arthrogryposi... |
ORPHA:2671 |
Velocardiofacial Syndrome |
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Hypoparathyroidism, Cryptorchidism |
OMIM:192430 |
Dent Disease |
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Delayed epiphyseal ossification, Rickets, Osteomalacia, Sparse bone trabeculae, Thin bony cortex,... |
ORPHA:1652 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
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Hypoparathyroidism, Parathyroid hypoplasia, Diabetes mellitus |
ORPHA:2237 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
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Hypoparathyroidism |
OMIM:146255 |
Smith-Lemli-Opitz Syndrome |
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Hypoalbuminemia, Hypocholesterolemia, Elevated circulating 7-dehydrocholesterol concentration |
OMIM:270400 |
X-Linked Hypophosphatemia |
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Limitation of joint mobility, Rickets, Generalized osteosclerosis, Arthritis, Enthesitis, Cranios... |
ORPHA:89936 |
Pseudohypoparathyroidism Type 1C |
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Pituitary resistance to thyroid hormone, Ectopic ossification, Elevated circulating parathyroid h... |
ORPHA:79444 |
Pseudohypoparathyroidism Type 1A |
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Pituitary resistance to thyroid hormone, Ectopic ossification, Elevated circulating parathyroid h... |
ORPHA:79443 |
Fanconi-Bickel Syndrome |
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Rickets, Osteomalacia |
OMIM:227810 |
Leptospirosis |
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Hyperproteinemia |
ORPHA:509 |
Distal Renal Tubular Acidosis |
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Reduced bone mineral density, Rickets, Increased susceptibility to fractures, Osteomalacia |
ORPHA:18 |
Occipital Horn Syndrome |
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Synostosis of joints, Osteopenia, Rickets, Osteomalacia, Joint hypermobility, Osteoporosis, Osteo... |
ORPHA:198 |
Infantile Nephropathic Cystinosis |
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Abnormality of thyroid physiology, Rickets |
ORPHA:411629 |
Proteus-Like Syndrome |
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Thymus hyperplasia, Hyperostosis, Abnormality of the parathyroid gland, Polycystic ovaries |
ORPHA:2969 |
Lowe Oculocerebrorenal Syndrome |
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Joint contracture of the hand, Rickets, Camptodactyly of finger, Pathologic fracture, Osteomalaci... |
OMIM:309000 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
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Osteopenia, Rickets, Joint hypermobility, Thin bony cortex, Reduced bone mineral density, Bile du... |
OMIM:613658 |
Charge Syndrome |
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Parathyroid hypoplasia, Aplasia/Hypoplasia of the thymus, Decreased response to growth hormone st... |
OMIM:214800 |
Cystinosis, Nephropathic |
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Male hypogonadism, Rickets, Exocrine pancreatic insufficiency, Hypophosphatemic rickets, Primary ... |
OMIM:219800 |
Familial Hypocalciuric Hypercalcemia |
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Pancreatitis, Osteomalacia |
ORPHA:405 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
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Osteopenia, Abnormal circulating calcium-phosphate regulating hormone concentration, Rickets, Ost... |
ORPHA:2636 |
Primary Fanconi Renotubular Syndrome |
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Hypophosphatemic rickets, Increased susceptibility to fractures, Osteomalacia |
ORPHA:3337 |
Microsporidiosis |
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Abnormality of the parathyroid gland, Osteomyelitis, Prostatitis, Pancreatitis, Adrenocortical ab... |
ORPHA:2552 |
Immunodeficiency 82 With Systemic Inflammation |
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Osteomyelitis, Arthritis, Osteomalacia |
OMIM:619381 |
Hypomagnesemia 3, Renal |
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Rickets, Elevated circulating parathyroid hormone level |
OMIM:248250 |
Generalized Arterial Calcification Of Infancy |
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Osteomalacia, Adrenal calcification, Hypophosphatemic rickets, Abnormal calcification of the carp... |
ORPHA:51608 |
Beckwith-Wiedemann Syndrome |
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Abnormal pancreas morphology, Exocrine pancreatic insufficiency, Adrenocortical cytomegaly, Crypt... |
ORPHA:116 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
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Pseudohypoparathyroidism |
OMIM:617157 |