Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia |
DECIPHER:16 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
Blue Diaper Syndrome |
|
Abnormal circulating tryptophan concentration, Hypercalcemia |
OMIM:211000 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures |
ORPHA:2239 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration |
OMIM:615883 |
Renal Tubular Acidosis, Distal, 1 |
|
Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia |
OMIM:179800 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
Vitamin D-Dependent Rickets, Type 3 |
|
Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
Pseudohypoparathyroidism Type 2 |
|
Hyperphosphatemia, Hypocalcemic tetany, Calcinosis, Hypocalcemic seizures, Hypocalcemia |
ORPHA:94090 |
Renal Failure, Progressive, With Hypertension |
|
Elevated circulating creatinine concentration |
OMIM:161900 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration |
OMIM:619658 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hyperphosphatemia, Hypokalemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration |
OMIM:242530 |
2P21 Microdeletion Syndrome |
|
Hypocalcemia, Cystinuria |
ORPHA:163693 |
Progressive Familial Intrahepatic Cholestasis |
|
Hypocalcemia |
ORPHA:172 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypocalcemia, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:612526 |
Alpha-Heavy Chain Disease |
|
Hypocalcemia |
ORPHA:100025 |
Hyperparathyroidism 4 |
|
Hypercalcemia |
OMIM:617343 |
Hypomagnesemia 4, Renal |
|
Hypomagnesemia |
OMIM:611718 |
Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration |
OMIM:219750 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Reduced blood urea nitrogen, Decreased circulating renin level, Decreased serum creatinine, Hypon... |
OMIM:300539 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures |
ORPHA:93324 |
Autoimmune Hypoparathyroidism |
|
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:36913 |
Hypercalcemia, Infantile, 2 |
|
Hypophosphatemia, Hypercalcemia |
OMIM:616963 |
Pseudopseudohypoparathyroidism |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:79445 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:89937 |
Small Cell Carcinoma Of The Bladder |
|
Hypercalcemia |
ORPHA:284400 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:617872 |
Familial Isolated Hypoparathyroidism |
|
Hypocalcemia |
ORPHA:2238 |
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion |
|
Hypouricemia |
OMIM:307830 |
Granulomatous Slack Skin |
|
Hypercalcemia |
ORPHA:33111 |
Hypotonia-Cystinuria Syndrome |
|
Hypocalcemia, Cystinuria |
OMIM:606407 |
Timothy Syndrome |
|
Hypocalcemia |
OMIM:601005 |
Interstitial Nephritis, Karyomegalic |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:614817 |
Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia |
OMIM:612462 |
Lactic Acidosis, Chronic Adult Form |
|
Hyperuricemia |
OMIM:150170 |
Refractory Celiac Disease |
|
Hypophosphatemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia, Hypoalbuminemia |
ORPHA:398063 |
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion |
|
Abnormal circulating calcium concentration |
ORPHA:140286 |
Ring Chromosome 10 Syndrome |
|
Hypocalcemia |
ORPHA:1438 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:617056 |
Oculoskeletodental Syndrome |
|
Hypocalcemia, Hypercalcemia |
ORPHA:557003 |
Tubulointerstitial Nephritis With Uveitis |
|
Elevated circulating creatinine concentration |
OMIM:607665 |
Intermediate Osteopetrosis |
|
Hypocalcemia |
ORPHA:210110 |
Nephronophthisis-Like Nephropathy 2 |
|
Elevated circulating creatinine concentration |
OMIM:619468 |
Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Elevated circulating creatinine concentration |
OMIM:615605 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Hypercalcemia |
ORPHA:2668 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:175500 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Hypophosphatemia, Hypocalcemia, Generalized aminoaciduria, Hypocalcemic seizures |
OMIM:264700 |
Kenny-Caffey Syndrome, Type 1 |
|
Hypocalcemia, Hypomagnesemia |
OMIM:244460 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hypercalcemia |
OMIM:239199 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Hypohomocysteinemia, Decreased serum creatinine, Hypocystinemia |
OMIM:617744 |
Genetic Recurrent Myoglobinuria |
|
Highly elevated creatine kinase, Hypocalcemia, Hyperkalemia, Hyperphosphatemia |
ORPHA:99845 |
Colchicine Poisoning |
|
Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia, Hypo... |
ORPHA:31824 |
Albers-Schönberg Osteopetrosis |
|
Hypocalcemia |
ORPHA:53 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Hypophosphatemia, Hypocalcemia |
OMIM:600081 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:241410 |
Juvenile Nephropathic Cystinosis |
|
Aminoaciduria, Hypocalcemic tetany, Hypophosphatemia, Hypokalemia, Hyponatremia, Elevated circula... |
ORPHA:411634 |
Blue Diaper Syndrome |
|
Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Elevated circulating creatinine concentration |
ORPHA:567544 |
Dahlberg-Borer-Newcomer Syndrome |
|
Hypocalcemia |
ORPHA:1563 |
Preeclampsia |
|
Elevated circulating creatinine concentration |
ORPHA:275555 |
Adenine Phosphoribosyltransferase Deficiency |
|
Elevated circulating creatinine concentration |
OMIM:614723 |
Pseudohypoparathyroidism Type 1B |
|
Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypocalcemic seizures, Hypocalcemia |
ORPHA:94089 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Elevated circulating creatinine concentration |
OMIM:616733 |
Primary Intestinal Lymphangiectasia |
|
Hypocalcemia, Hypoproteinemia, Hypomagnesemia, Hypoalbuminemia |
ORPHA:90362 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Elevated circulating creatine kinase concentration, ... |
ORPHA:26793 |
Coach Syndrome 2 |
|
Elevated circulating creatinine concentration |
OMIM:619111 |
Uremic Pruritus |
|
Increased blood urea nitrogen, Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia |
ORPHA:94059 |
X-Linked Agammaglobulinemia |
|
Hypocalcemia |
ORPHA:47 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Hypophosphatemia, Hypocalcemia, Generalized aminoaciduria, Hypocalcemic seizures |
ORPHA:289157 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:93160 |
Hypouricemia, Renal, 1 |
|
Elevated circulating creatinine concentration, Hypouricemia |
OMIM:220150 |
Diffuse Neonatal Hemangiomatosis |
|
Hypercalcemia |
ORPHA:2123 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypocalcemia, Hypertriglyceridemia, Hypomagnesemia, Hypoalbuminemia |
OMIM:618183 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypercalcemia, Hypermagnesemia |
OMIM:145980 |
Cryoglobulinemia, Familial Mixed |
|
Elevated circulating creatinine concentration |
OMIM:123550 |
Oculoskeletodental Syndrome |
|
Hypocalcemia, Hypercalcemia |
OMIM:618440 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:612924 |
Cholera |
|
Hypokalemia, Hypocalcemia, Abnormal blood ion concentration, Hyponatremia |
ORPHA:173 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Hypocalcemia |
OMIM:607143 |
Nephronophthisis 2 |
|
Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:602088 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration |
OMIM:612736 |
Neuroleptic Malignant Syndrome |
|
Hyperphosphatemia, Hyperuricemia, Hyperkalemia, Elevated circulating creatine kinase concentratio... |
ORPHA:94093 |
Oncogenic Osteomalacia |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:352540 |
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 |
Familial Isolated Hyperparathyroidism |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:99879 |
Gracile Bone Dysplasia |
|
Hypocalcemia |
OMIM:602361 |
Hypercalcemia, Infantile, 1 |
|
Hypercalcemia |
OMIM:143880 |
Sanjad-Sakati Syndrome |
|
Hypocalcemia, Hyperphosphatemia |
ORPHA:2323 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Elevated circulating creatinine concentration, Hypokalemia, Elevated circulating alpha-fetoprotei... |
OMIM:613095 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hypocalcemia |
OMIM:259700 |
C3 Glomerulopathy |
|
Elevated circulating creatinine concentration |
ORPHA:329918 |
Hypouricemia, Renal, 2 |
|
Hypouricemia |
OMIM:612076 |
Bacterial Toxic-Shock Syndrome |
|
Elevated circulating creatinine concentration, Hypocalcemia, Hypoalbuminemia, Elevated circulatin... |
ORPHA:36234 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration |
OMIM:620138 |
Histidinemia |
|
Histidinuria, Hyperhistidinemia |
OMIM:235800 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypercalcemia, Hypermagnesemia |
OMIM:145981 |
Thrombotic Thrombocytopenic Purpura |
|
Decreased serum creatinine |
ORPHA:54057 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Aminoaciduria, Calcinosis, Hypokalemia, Hyponatremia, Hypocalcemia |
OMIM:617913 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:612925 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
Tyrosinosis |
|
Hypertyrosinemia |
OMIM:276800 |
Kenny-Caffey Syndrome, Type 2 |
|
Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia |
OMIM:127000 |
Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
|
Hypouricemia |
OMIM:242050 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia |
OMIM:612089 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hypocalcemia, Hypoproteinemia |
OMIM:235255 |
Pseudohypoparathyroidism Type 1C |
|
Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypocalcemic seizures, Hypocalcemia |
ORPHA:79444 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Hypocalcemia |
OMIM:618476 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypercalcemia |
OMIM:614732 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia |
ORPHA:73224 |
Double Outlet Right Ventricle |
|
Hypocalcemia |
ORPHA:3426 |
Hypophosphatasia |
|
Hypercalcemia |
ORPHA:436 |
Rhabdoid Tumor |
|
Hypercalcemia |
ORPHA:69077 |
Autosomal Dominant Hypocalcemia |
|
Hypocalcemia, Hypomagnesemia, Hyperphosphatemia |
ORPHA:428 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hypercalcemia |
OMIM:145001 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Elevated circulating creatinine concentration, Hyperuricemia |
ORPHA:79233 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypocalcemia |
ORPHA:746 |
Glucose-Galactose Malabsorption |
|
Hypernatremia, Hypercalcemia |
ORPHA:35710 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Elevated circulating creatinine concentration, Hypoalbuminemia |
OMIM:608104 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hypocalcemia, Hypoproteinemia |
ORPHA:1655 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Decreased prealbumin level, Abnormal blood ion concentration, Hypocalcemia, Hypomagnesemia, Hypoa... |
ORPHA:37042 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Hypercalcemia, Elevated creatine kinase after exercise |
ORPHA:284426 |
Pseudohypoparathyroidism Type 1A |
|
Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypocalcemic seizures, Hypocalcemia |
ORPHA:79443 |
Celiac Disease, Susceptibility To, 1 |
|
Hypocalcemia |
OMIM:212750 |
Relapsing Fever |
|
Increased total bilirubin, Elevated circulating creatinine concentration, Elevated circulating C-... |
ORPHA:91547 |
Pseudohypoparathyroidism, Type Ia |
|
Hypocalcemic tetany, Hyperphosphatemia |
OMIM:103580 |
Sickle Cell Anemia |
|
Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration |
ORPHA:232 |
Hyperparathyroidism, Neonatal Severe |
|
Aminoaciduria, Hypophosphatemia, Hypercalcemia, Calcinosis |
OMIM:239200 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hypocalcemia, Hyperbilirubinemia |
OMIM:259720 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Elevated circulating creatinine concentration |
OMIM:614376 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Hypercalcemia |
OMIM:171420 |
Ethylene Glycol Poisoning |
|
Hypocalcemia, Hyperkalemia |
ORPHA:31826 |
Non-Functioning Paraganglioma |
|
Hypercalcemia |
ORPHA:94080 |
Igg4-Related Thyroid Disease |
|
Hypocalcemia |
ORPHA:64744 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hyperlipidemia |
OMIM:235400 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypophosphatemia, Hypercalcemia, Hypermagnesemia |
OMIM:600740 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Increased total bilirubin, Decreased plasma free carnitine, Elevated circulating long chain fatty... |
OMIM:608836 |
Paget Disease Of Bone 2, Early-Onset |
|
Hypercalcemia, Hydroxyprolinuria |
OMIM:602080 |
Infantile Myofibromatosis |
|
Hypercalcemia |
ORPHA:2591 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypocalcemia, Hypocalcemic seizures |
ORPHA:2237 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated circulating creatinine concentration, Hyperbilirubinemia |
ORPHA:542323 |
Isotretinoin-Like Syndrome |
|
Hypocalcemia |
ORPHA:2306 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:274150 |
Hypophosphatasia, Infantile |
|
Elevated plasma pyrophosphate, Hypercalcemia |
OMIM:241500 |
Acute Interstitial Pneumonia |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration |
ORPHA:79126 |
Diffuse Alveolar Hemorrhage |
|
Elevated circulating creatinine concentration |
ORPHA:90060 |
Visceral Steatosis, Congenital |
|
Hypocalcemia |
OMIM:228100 |
46,Xy Sex Reversal 4 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:154230 |
Velocardiofacial Syndrome |
|
Hypocalcemia |
OMIM:192430 |
Cartilage-Hair Hypoplasia |
|
Hypocalcemia |
ORPHA:175 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Increased blood urea nitrogen, Hypercalcemia |
ORPHA:251004 |
Pearson Syndrome |
|
Hyperalaninemia, Hypokalemia, Hypophosphatemia, Hypocalcemia, Hypomagnesemia |
ORPHA:699 |
Craniofacioskeletal Syndrome |
|
Hypocalcemia |
OMIM:300712 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased HDL cholesterol concentration, Decreased serum creatinine, Hypotriglyceridemia |
OMIM:618885 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hypocalcemia, Hyperbilirubinemia |
ORPHA:163979 |
Senior-Loken Syndrome 1 |
|
Elevated circulating creatinine concentration |
OMIM:266900 |
Multiple Myeloma |
|
Elevated circulating creatinine concentration, Hyperproteinemia, Hypercalcemia |
ORPHA:29073 |
Familial Hypocalciuric Hypercalcemia |
|
Hypocalcemic seizures, Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia |
ORPHA:405 |
Exercise-Induced Malignant Hyperthermia |
|
Hypocalcemia, Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
ORPHA:466650 |
Gitelman Syndrome |
|
Hypokalemia, Hypocalcemia, Hypomagnesemia, Hypermagnesemia |
ORPHA:358 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hypocalcemia, Hyperkalemia, Hyponatremia |
ORPHA:544482 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypophosphatemia, Hypercalcemia |
OMIM:156400 |
Aapoaiv Amyloidosis |
|
Elevated circulating creatinine concentration, Hyperlipidemia |
ORPHA:439232 |
Late-Onset Isolated Acth Deficiency |
|
Hyperuricemia, Hyperkalemia, Hypercalcemia, Hyponatremia |
ORPHA:199299 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:174000 |
Dopamine Beta-Hydroxylase Deficiency |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
ORPHA:230 |
Thymic Neuroendocrine Tumor |
|
Hypercalcemia |
ORPHA:97289 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Unconjugated hyperbilirubinemia, Hypocalcemia, Hypoalbuminemia |
OMIM:613658 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Elevated circulating creatinine concentra... |
ORPHA:85450 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:223900 |
Hennekam Syndrome |
|
Hypocalcemia |
ORPHA:2136 |
Liver Disease, Severe Congenital |
|
Aminoaciduria, Hyperalaninemia, Elevated hepatic iron concentration, Hyperbilirubinemia, Elevated... |
OMIM:619991 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:667 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration, Hypokalemia, Hypo... |
ORPHA:90038 |
Osteopetrosis With Renal Tubular Acidosis |
|
Hypocalcemia, Elevated circulating creatine kinase concentration |
ORPHA:2785 |
Cranioectodermal Dysplasia 1 |
|
Hypocalcemia |
OMIM:218330 |
Acute Adrenal Insufficiency |
|
Hyperuricemia, Hyperkalemia, Increased circulating renin level, Hypercalcemia, Hyponatremia |
ORPHA:95409 |
Acrodysostosis With Multiple Hormone Resistance |
|
Hypocalcemia, Hyperphosphatemia |
ORPHA:280651 |
22Q11.2 Deletion Syndrome |
|
Hypocalcemia |
ORPHA:567 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Elevated circulating creatinine concentration |
ORPHA:247691 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:93325 |
Monosomy 13Q34 |
|
Hypercalcemia |
ORPHA:96168 |
Pheochromocytoma |
|
Hypercalcemia |
OMIM:171300 |
Igg4-Related Retroperitoneal Fibrosis |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Elevated circulatin... |
ORPHA:49041 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypercalcemia |
ORPHA:276621 |
Papillorenal Syndrome |
|
Elevated circulating creatinine concentration |
OMIM:120330 |
Mastocytosis |
|
Hypercalcemia |
ORPHA:98292 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Hypercalcemia |
ORPHA:476126 |
Oligomeganephronia |
|
Elevated circulating creatinine concentration |
ORPHA:2260 |
Bartter Syndrome, Type 1, Antenatal |
|
Increased serum prostaglandin E2, Hypokalemia, Increased circulating renin level, Hyperchloriduri... |
OMIM:601678 |
Autosomal Dominant Polycystic Kidney Disease |
|
Elevated circulating creatinine concentration |
ORPHA:730 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Elevated circulating creatinine concentration |
OMIM:617478 |
Cardiogenic Shock |
|
Elevated circulating creatinine concentration |
ORPHA:97292 |
Addison Disease |
|
Hyperuricemia, Hyperkalemia, Increased circulating renin level, Hypercalcemia, Hyponatremia |
ORPHA:85138 |
Vitamin D-Dependent Rickets, Type 2A |
|
Hypophosphatemia, Hypocalcemic seizures |
OMIM:277440 |
Hepatocellular Carcinoma |
|
Hypokalemia, Hyperbilirubinemia, Hypercalcemia, Hyponatremia, Hypoalbuminemia |
ORPHA:88673 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hypocalcemia, Hypomagnesemia |
OMIM:619503 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia |
ORPHA:289176 |
Thymic Aplasia |
|
Hypocalcemic tetany |
ORPHA:83471 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypertriglyceridemia, Hypercalcemia |
ORPHA:369837 |
Fibrous Dysplasia Of Bone |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:249 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Hypercalcemia |
ORPHA:29072 |
Hemorrhagic Fever-Renal Syndrome |
|
Elevated circulating creatinine concentration, Hyperphosphatemia, Hyperkalemia |
ORPHA:340 |
Marburg Hemorrhagic Fever |
|
Hypokalemia, Elevated circulating creatine kinase concentration, Hyperammonemia, Elevated circula... |
ORPHA:99826 |
Multiple Endocrine Neoplasia, Type I |
|
Hypercalcemia |
OMIM:131100 |
Digeorge Syndrome |
|
Hypocalcemia |
OMIM:188400 |
Renal Cysts And Diabetes Syndrome |
|
Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:137920 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:99880 |
Charge Syndrome |
|
Hypocalcemia |
OMIM:214800 |
Parathyroid Carcinoma |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:143 |
Vipoma |
|
Hypokalemia, Hypercalcemia |
ORPHA:97282 |
Pauci-Immune Glomerulonephritis |
|
Elevated circulating creatinine concentration |
ORPHA:93126 |
Ppoma |
|
Hypercalcemia |
ORPHA:97278 |
Johanson-Blizzard Syndrome |
|
Hypocalcemia, Increased VLDL cholesterol concentration |
OMIM:243800 |
Hypophosphatemic Rickets |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:437 |
Somatostatinoma |
|
Hypercalcemia |
ORPHA:97283 |
Zollinger-Ellison Syndrome |
|
Hypercalcemia |
ORPHA:913 |
Grfoma |
|
Hypercalcemia |
ORPHA:97261 |
Glucagonoma |
|
Hypercalcemia |
ORPHA:97280 |
Multiple Endocrine Neoplasia Type 4 |
|
Hypercalcemia |
ORPHA:276152 |
Multiple Endocrine Neoplasia Type 2 |
|
Hypercalcemia |
ORPHA:653 |
Yellow Fever |
|
Elevated circulating creatinine concentration, Hyperbilirubinemia, Elevated circulating creatine ... |
ORPHA:99829 |
Igg4-Related Kidney Disease |
|
Elevated circulating creatinine concentration, Decreased retinol-binding protein level, Elevated ... |
ORPHA:449395 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hyperbilirubinemia, Increased circulating ferritin concentration, Hypercholesterolemia, Elevated ... |
OMIM:619534 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Aminoaciduria, Elevated circulating creatinine concentration, Elevated circulating C-reactive pro... |
ORPHA:91500 |
Multiple Endocrine Neoplasia Type 1 |
|
Hypercalcemia |
ORPHA:652 |
Osteopetrosis, Autosomal Recessive 7 |
|
Hypocalcemic seizures |
OMIM:612301 |
Williams Syndrome |
|
Abnormal circulating lipid concentration, Hypercalcemia, Elevated circulating creatine kinase con... |
ORPHA:904 |
Sarcoidosis |
|
Hypercalcemia |
ORPHA:797 |
Williams-Beuren Syndrome |
|
Hypercalcemia |
OMIM:194050 |
Sotos Syndrome |
|
Hypercalcemia |
ORPHA:821 |