Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased circulating apolipoprotei... |
OMIM:620058 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... |
ORPHA:79506 |
Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Pancreatic Lipase Deficiency |
|
Hypocholesterolemia, Steatorrhea |
OMIM:614338 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:618883 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:241520 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Chylomicron Retention Disease |
|
Steatorrhea, Hypotriglyceridemia, Decreased LDL cholesterol concentration, Hypoalbuminemia, Hypoc... |
OMIM:246700 |
Pseudohypoparathyroidism, Type Ii |
|
Hypocalcemia, Hyperphosphatemia |
OMIM:203330 |
Vitamin D-Dependent Rickets, Type 3 |
|
Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
Hypercalcemia, Infantile, 2 |
|
Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
Hypophosphatemic Bone Disease |
|
Hypophosphatemia |
OMIM:146350 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:193100 |
Dent Disease 2 |
|
Aminoaciduria, Hypophosphatemia, Elevated circulating creatine kinase concentration |
OMIM:300555 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... |
OMIM:616834 |
Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
Renal Failure, Progressive, With Hypertension |
|
Elevated circulating creatinine concentration |
OMIM:161900 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144300 |
Hypocalcemia, Autosomal Dominant 2 |
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Hypocalcemia, Abnormal blood phosphate concentration |
OMIM:615361 |
Fanconi Renotubular Syndrome 5 |
|
Aminoaciduria, Hypophosphatemic rickets, Hypophosphatemia |
OMIM:618913 |
Pseudohypoparathyroidism Type 2 |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany |
ORPHA:94090 |
Hyperlipidemia, Familial Combined, 3 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... |
OMIM:144250 |
Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Hypercholesterolemia, Hyperlipidemia |
OMIM:232700 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Decreased serum creatinine, Hyponatremia, Decreased circulating renin level, Reduced blood urea n... |
OMIM:300539 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypomagnesemia |
ORPHA:2239 |
Hypobetalipoproteinemia, Familial, 1 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Steatorrhea, Decreased LDL cholest... |
OMIM:615558 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypocholesterolemia |
OMIM:610539 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Hypophosphatemia |
OMIM:612287 |
Uremic Pruritus |
|
Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia |
ORPHA:94059 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration |
OMIM:242530 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Aminoaciduria, Hypophosphatemia |
OMIM:308990 |
Pseudohypoparathyroidism, Type Ib |
|
Hypocalcemia, Hyperphosphatemia |
OMIM:603233 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Hypophosphatemia |
OMIM:612286 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased serum creatinine, Hypocystinemia, Hypohomocysteinemia |
OMIM:617744 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:146200 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:617872 |
Familial Isolated Hyperparathyroidism |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:99879 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:89937 |
Linear Verrucous Nevus Syndrome |
|
Hypophosphatemia |
ORPHA:2611 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypouricemia, Aminoaciduria, Hypophosphatemia |
OMIM:616026 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hypervalinemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen, Hyperammonemia |
OMIM:620085 |
Interstitial Nephritis, Karyomegalic |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:614817 |
Fanconi Renotubular Syndrome 1 |
|
Aminoaciduria, Hypophosphatemia, Hypokalemia |
OMIM:134600 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia |
OMIM:612089 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Increased circulating free fatty acid level, Hypophosphatemia, Steatorrhea |
OMIM:605911 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hypophosphatemic rickets, Hypophosphatemia, Increased circulating beta-C-terminal telopeptide con... |
ORPHA:157215 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hypocalcemia, Increased circulating renin level, Hypomagnesemia, Hyperphosphatemia |
OMIM:601198 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
Refractory Celiac Disease |
|
Hypocalcemia, Hypoproteinemia, Hypomagnesemia, Hypophosphatemia, Hypoalbuminemia |
ORPHA:398063 |
Renal Tubular Acidosis, Distal, 1 |
|
Hypocalcemia, Elevated circulating creatinine concentration, Hypokalemia |
OMIM:179800 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Hypocalcemia, Hyperphosphatemia |
OMIM:618618 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration |
OMIM:612736 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia |
OMIM:615863 |
Cystinosis |
|
Aminoaciduria, Hypophosphatemia, Hypokalemia |
ORPHA:213 |
Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration |
OMIM:219750 |
Fanconi Renotubular Syndrome 2 |
|
Hypophosphatemia, Generalized aminoaciduria |
OMIM:613388 |
Hepatic Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:614025 |
Fanconi-Bickel Syndrome |
|
Increased serum bile acid concentration, Hypokalemia, Generalized aminoaciduria, Hypouricemia, Hy... |
OMIM:227810 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Hypocalcemia, Hypophosphatemia |
OMIM:600081 |
Peroxisome Biogenesis Disorder 3B |
|
Elevated circulating phytanic acid concentration, Hypocholesterolemia, Steatorrhea |
OMIM:266510 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia |
OMIM:241530 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia, Generalized aminoaciduria |
OMIM:264700 |
Blue Diaper Syndrome |
|
Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hypocholesterolemia, Conjugated hyperbilirubinemia, Steatorrhea |
OMIM:607765 |
Colchicine Poisoning |
|
Hypokalemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypophosphatemia, Abnormal blood ion con... |
ORPHA:31824 |
Nephronophthisis-Like Nephropathy 2 |
|
Elevated circulating creatinine concentration |
OMIM:619468 |
Potocki-Lupski Syndrome |
|
Hypocholesterolemia |
OMIM:610883 |
Squalene Synthase Deficiency |
|
Increased circulating farnesol concentration, Hypocholesterolemia, Decreased LDL cholesterol conc... |
OMIM:618156 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:617056 |
Hyperparathyroidism, Neonatal Severe |
|
Aminoaciduria, Calcinosis, Hypercalcemia, Hypophosphatemia |
OMIM:239200 |
Thrombotic Thrombocytopenic Purpura |
|
Decreased serum creatinine |
ORPHA:54057 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia |
OMIM:307800 |
Fanconi-Bickel Syndrome |
|
Hypertriglyceridemia, Hypophosphatemia, Generalized aminoaciduria |
ORPHA:2088 |
Juvenile Nephropathic Cystinosis |
|
Hypokalemia, Hypocalcemia, Hypouricemia, Hyponatremia, Hypophosphatemia, Hypocalcemic tetany, Ele... |
ORPHA:411634 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, Hypomagnesemia, Hyp... |
OMIM:619743 |
Hypercholesterolemia, Familial, 3 |
|
Abnormal LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma |
OMIM:603776 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:93160 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Elevated circulating creatinine concentration |
ORPHA:567544 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:612924 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypermagnesemia, Hypercalcemia, Hypophosphatemia |
OMIM:600740 |
Renal Tubular Acidosis, Proximal |
|
Elevated circulating creatinine concentration |
OMIM:179830 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:612926 |
Vitamin D-Dependent Rickets, Type 2A |
|
Hypocalcemic seizures, Hypophosphatemia |
OMIM:277440 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:300554 |
Hereditary Fructose Intolerance |
|
Hypermagnesemia, Hypophosphatemia, Hyperuricemia |
ORPHA:469 |
Alport Syndrome 3A, Autosomal Dominant |
|
Hypophosphatemia, Azotemia |
OMIM:104200 |
Oncogenic Osteomalacia |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:352540 |
Osteopetrosis, Autosomal Recessive 9 |
|
Hyperkalemia, Elevated circulating creatinine concentration |
OMIM:620366 |
Congenital Disorder Of Glycosylation, Type Il |
|
Hypoalbuminemia, Hypocholesterolemia |
OMIM:608776 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypercalcemia, Hypophosphatemia |
OMIM:156400 |
Hypercholesterolemia, Familial, 2 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144010 |
Fanconi Renotubular Syndrome 3 |
|
Elevated circulating creatinine concentration, Aminoaciduria |
OMIM:615605 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:612925 |
Autoimmune Hypoparathyroidism |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany |
ORPHA:36913 |
Adenine Phosphoribosyltransferase Deficiency |
|
Elevated circulating creatinine concentration |
OMIM:614723 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Elevated circulating creatinine concentration |
OMIM:616733 |
Chylomicron Retention Disease |
|
Hypocholesterolemia, Steatorrhea |
ORPHA:71 |
Coach Syndrome 2 |
|
Elevated circulating creatinine concentration |
OMIM:619111 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia, Generalized aminoaciduria |
ORPHA:289157 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hypocholesterolemia |
OMIM:618810 |
Dent Disease 1 |
|
Aminoaciduria, Hypophosphatemia |
OMIM:300009 |
Calciphylaxis |
|
Hyperphosphatemia |
ORPHA:280062 |
Primary Fanconi Renotubular Syndrome |
|
Bicarbonaturia, Hypophosphatemic rickets, Hypokalemia, Generalized aminoaciduria, Decreased circu... |
ORPHA:3337 |
Kenny-Caffey Syndrome, Type 2 |
|
Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia |
OMIM:127000 |
Infantile Nephropathic Cystinosis |
|
Abnormal blood ion concentration, Aminoaciduria, Hypophosphatemia, Hypokalemia |
ORPHA:411629 |
Cryoglobulinemia, Familial Mixed |
|
Elevated circulating creatinine concentration |
OMIM:123550 |
Hypouricemia, Renal, 1 |
|
Hypouricemia, Elevated circulating creatinine concentration |
OMIM:220150 |
Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic tetany |
OMIM:612462 |
Pseudohypoparathyroidism Type 1B |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany |
ORPHA:94089 |
Nephronophthisis 2 |
|
Hyperkalemia, Elevated circulating creatinine concentration |
OMIM:602088 |
C3 Glomerulopathy |
|
Elevated circulating creatinine concentration |
ORPHA:329918 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Increa... |
OMIM:605814 |
Genetic Recurrent Myoglobinuria |
|
Hypocalcemia, Hyperphosphatemia, Highly elevated creatine kinase, Hyperkalemia |
ORPHA:99845 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hyperlipidemia |
OMIM:235400 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration |
OMIM:620138 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Hypocholesterolemia, Decreased LDL cholesterol concentration, Elevated circulating creatine kinas... |
ORPHA:96180 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased serum creatinine, Decreased HDL cholesterol concentration, Hypotriglyceridemia |
OMIM:618885 |
Apolipoprotein C-Ii Deficiency |
|
Hypertriglyceridemia, Decreased circulating apolipoprotein C-II concentration, Hypercholesterolem... |
OMIM:207750 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Elevated circulating alpha-fetoprotein concentration, Elevated circulating creatinine concentrati... |
OMIM:613095 |
Familial Hypocalciuric Hypercalcemia |
|
Hypermagnesemia, Renal hypophosphatemia, Hypocalcemic seizures, Hypercalcemia |
ORPHA:405 |
Mccune-Albright Syndrome |
|
Hypophosphatemia, Primary hypercortisolism, Increased circulating cortisol level |
ORPHA:562 |
Opsismodysplasia |
|
Hypophosphatemia |
OMIM:258480 |
Fructose Intolerance, Hereditary |
|
Bicarbonaturia, Hyperuricemia, Transient aminoaciduria, Hyperbilirubinemia, Hypophosphatemia |
OMIM:229600 |
Cystinosis, Nephropathic |
|
Hypophosphatemic rickets, Hypokalemia, Generalized aminoaciduria, Reduced blood urea nitrogen, De... |
OMIM:219800 |
Fibrous Dysplasia Of Bone |
|
Hypercalcemia, Hypophosphatemia, Increased circulating cortisol level |
ORPHA:249 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Hyperphosphatemia, Hydroxyprolinuria, Hydroxyprolinemia, Hyperuricemia |
OMIM:239000 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Elevated circulating creatinine concentration, Hyperuricemia |
ORPHA:79233 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:241410 |
Thyrotoxic Periodic Paralysis |
|
Hyperkalemia, Transient hypophosphatemia, Episodic hypokalemia, Hypomagnesemia, Mildly elevated c... |
ORPHA:79102 |
Pseudohypoparathyroidism, Type Ia |
|
Hyperphosphatemia, Hypocalcemic tetany |
OMIM:103580 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Hypercalcemia, Hyperphosphatemia |
OMIM:211900 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hypoalbuminemia, Elevated circulating creatinine concentration |
OMIM:608104 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:274150 |
Raine Syndrome |
|
Hypophosphatemia |
OMIM:259775 |
Relapsing Fever |
|
Increased total bilirubin, Elevated circulating creatinine concentration, Elevated circulating C-... |
ORPHA:91547 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hypokalemia, Hyponatremia, Hypophosphatemia, Hyperaldosteronism, Hypercholesterolemia, Aminoacidu... |
ORPHA:534 |
Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Steatorrhea, Hypotriglyceridemia, Hyperbilirubinemia, Ab... |
ORPHA:14 |
Preeclampsia |
|
Elevated circulating creatinine concentration |
ORPHA:275555 |
46,Xy Sex Reversal 4 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:154230 |
Neuroleptic Malignant Syndrome |
|
Hyperkalemia, Hyperuricemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Hy... |
ORPHA:94093 |
Pearson Syndrome |
|
Steatorrhea, Hypokalemia, Hypocalcemia, Hyperalaninemia, Hypomagnesemia, Hypophosphatemia |
ORPHA:699 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hypoalbuminemia, Hypocholesterolemia, Steatorrhea |
OMIM:212065 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Elevated circulating creatinine concentration |
OMIM:614376 |
Dent Disease |
|
Aminoaciduria, Renal hypophosphatemia, Elevated circulating creatine kinase concentration |
ORPHA:1652 |
Alg12-Cdg |
|
Hyponatremia, Hypocholesterolemia, Hypoalbuminemia |
ORPHA:79324 |
Diffuse Alveolar Hemorrhage |
|
Elevated circulating creatinine concentration |
ORPHA:90060 |
Histidinemia |
|
Elevated urinary N-tau-ribosylhistidine level, Hyperhistidinemia, Histidinuria |
OMIM:235800 |
Sanjad-Sakati Syndrome |
|
Hypocalcemia, Hyperphosphatemia |
ORPHA:2323 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:99880 |
Tangier Disease |
|
Hypertriglyceridemia, Hypocholesterolemia |
ORPHA:31150 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:223900 |
Secondary Intestinal Lymphangiectasia |
|
Decreased circulating prealbumin concentration, Secondary hyperaldosteronism, Reduced circulating... |
ORPHA:90363 |
Parathyroid Carcinoma |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:143 |
Malignant Hyperthermia Of Anesthesia |
|
Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise |
ORPHA:423 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated circulating long chain fatty acid concentration, Elevated circulating creatine kinase co... |
OMIM:608836 |
Aapoaiv Amyloidosis |
|
Elevated circulating creatinine concentration, Hyperlipidemia |
ORPHA:439232 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hyperbilirubinemia, Elevated circulating creatinine concentration |
ORPHA:542323 |
Acute Interstitial Pneumonia |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration |
ORPHA:79126 |
Dopamine Beta-Hydroxylase Deficiency |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
ORPHA:230 |
Autosomal Dominant Hypocalcemia |
|
Hypocalcemia, Hyperphosphatemia, Hypomagnesemia |
ORPHA:428 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Renal hypophosphatemia, Hypophosphatemic rickets |
ORPHA:289176 |
Kaufman Oculocerebrofacial Syndrome |
|
Hypocholesterolemia |
OMIM:244450 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:667 |
X-Linked Hypophosphatemia |
|
Hypophosphatemia |
ORPHA:89936 |
Senior-Loken Syndrome 1 |
|
Elevated circulating creatinine concentration |
OMIM:266900 |
Tyrosinosis |
|
Hypertyrosinemia |
OMIM:276800 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Hypocalcemic seizures, Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia |
ORPHA:79444 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:174000 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased HDL cholesterol concentration, Elevated circulating creatinine concentration, Decreased... |
ORPHA:85450 |
Dubowitz Syndrome |
|
Hypocholesterolemia |
OMIM:223370 |
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature |
|
Elevated circulating creatinine concentration, Reduced haptoglobin level |
OMIM:301110 |
Hypomagnesemia 3, Renal |
|
Hypocalcemic seizures, Increased circulating beta-C-terminal telopeptide concentration, Hyperuric... |
OMIM:248250 |
Bacterial Toxic-Shock Syndrome |
|
Hypocalcemia, Hypoalbuminemia, Elevated circulating creatinine concentration, Elevated circulatin... |
ORPHA:36234 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Hyperphosphatemia |
OMIM:101800 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Elevated circulating creatinine concentration, Hypokalemia, Unconjugated hyperbilir... |
ORPHA:90038 |
Multiple Myeloma |
|
Elevated circulating creatinine concentration, Hypercalcemia, Hyperproteinemia |
ORPHA:29073 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany |
ORPHA:93325 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Hypocalcemic seizures, Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia |
ORPHA:79443 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Elevated circulating creatinine concentration |
ORPHA:247691 |
Igg4-Related Retroperitoneal Fibrosis |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Elevated circulatin... |
ORPHA:49041 |
Hemorrhagic Fever-Renal Syndrome |
|
Hyperkalemia, Elevated circulating creatinine concentration, Hyperphosphatemia |
ORPHA:340 |
Papillorenal Syndrome |
|
Elevated circulating creatinine concentration |
OMIM:120330 |
Oligomeganephronia |
|
Elevated circulating creatinine concentration |
ORPHA:2260 |
Smith-Lemli-Opitz Syndrome |
|
Elevated circulating 7-dehydrocholesterol concentration, Hypoalbuminemia, Hypocholesterolemia |
OMIM:270400 |
Autosomal Dominant Polycystic Kidney Disease |
|
Elevated circulating creatinine concentration |
ORPHA:730 |
Exercise-Induced Malignant Hyperthermia |
|
Hypocalcemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemia |
ORPHA:466650 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Elevated circulating creatinine concentration |
OMIM:617478 |
Sickle Cell Anemia |
|
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia |
ORPHA:232 |
Cardiogenic Shock |
|
Elevated circulating creatinine concentration |
ORPHA:97292 |
Marburg Hemorrhagic Fever |
|
Hypokalemia, Hyperamylasemia, Elevated circulating creatine kinase concentration, Hyperammonemia,... |
ORPHA:99826 |
Pauci-Immune Glomerulonephritis |
|
Elevated circulating creatinine concentration |
ORPHA:93126 |
Renal Cysts And Diabetes Syndrome |
|
Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:137920 |
Igg4-Related Kidney Disease |
|
Elevated circulating creatinine concentration, Decreased retinol-binding protein level, Elevated ... |
ORPHA:449395 |
Yellow Fever |
|
Hyperbilirubinemia, Elevated circulating creatinine concentration, Elevated circulating creatine ... |
ORPHA:99829 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Elevated circulating creatinine concentration, Aminoaciduria, Elevated circulating C-reactive pro... |
ORPHA:91500 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hyperbilirubinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Elevated circulating creatini... |
OMIM:619534 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypoalbuminemia, Hyperalaninemia |
OMIM:618329 |
3-Methylglutaconic Aciduria Type 3 |
|
|
ORPHA:67047 |