Plasma Fibronectin Deficiency |
|
Reduced circulating fibronectin level |
OMIM:614101 |
Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating alanine aminotransferase concentration, Jaundice, Elevated circulating gamma... |
OMIM:619658 |
Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia |
DECIPHER:16 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased total bilirubin, Elevated circulating alanine aminotransferase concentration, Jaundice,... |
OMIM:619868 |
Erythroderma, Lethal Congenital |
|
Hypoalbuminemia |
OMIM:227090 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased circulating ceruloplasmin concentration, Elevated hepatic transaminase, Elevated circul... |
OMIM:616829 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hypermethioninemia, Elevated circulating alanine aminotransferase concentration, Elevated circula... |
OMIM:613752 |
Vitamin D-Dependent Rickets, Type 3 |
|
Elevated circulating alkaline phosphatase concentration, Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration |
OMIM:615883 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures |
ORPHA:2239 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:615863 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia |
ORPHA:88643 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Blue Diaper Syndrome |
|
Abnormal circulating tryptophan concentration, Hypercalcemia |
OMIM:211000 |
Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
Immunoerythromyeloid Hypoplasia |
|
Absent leukocyte alkaline phosphatase |
OMIM:242880 |
Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Hypoalbuminemia, Elevated circulating transferrin concen... |
OMIM:616000 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
Myeloproliferative Disease, Autosomal Recessive |
|
Reduced leukocyte alkaline phosphatase |
OMIM:254700 |
Progressive Familial Intrahepatic Cholestasis |
|
Jaundice, Hypocalcemia |
ORPHA:172 |
Chylomicron Retention Disease |
|
Hypocholesterolemia, Decreased LDL cholesterol concentration, Hypoalbuminemia, Hypotriglyceridemia |
OMIM:246700 |
Neutrophilia, Hereditary |
|
Elevated leukocyte alkaline phosphatase |
OMIM:162830 |
Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, Hy... |
ORPHA:103910 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Elevated circulating alkaline phosphatase concentration, Hypophosphatemia, Hypocalcemia |
ORPHA:89937 |
Pseudohypoparathyroidism Type 2 |
|
Hyperphosphatemia, Hypocalcemic tetany, Calcinosis, Hypocalcemic seizures, Hypocalcemia |
ORPHA:94090 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Elevated circulating alkaline phosphatase concentration, Increased total bilirubin |
OMIM:174050 |
Refractory Celiac Disease |
|
Elevated alkaline phosphatase of bone origin, Hypophosphatemia, Elevated hepatic transaminase, Hy... |
ORPHA:398063 |
Paget Disease Of Bone 4 |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:606263 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Hypoalbuminemia |
OMIM:614652 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hyperphosphatemia, Hypokalemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Elevated hepatic transaminase, Intrahepatic cholestasis, Elevated circulating alkaline phosphatas... |
OMIM:619484 |
Cholestasis-Lymphedema Syndrome |
|
Jaundice, Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration,... |
OMIM:214900 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Elevated circulating alkaline phosphatase concentration, Jaundice, Conjugated hyperbilirubinemia,... |
OMIM:605479 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
Congenital Lethal Erythroderma |
|
Hypoalbuminemia |
ORPHA:1954 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Elevated hepatic tra... |
ORPHA:247598 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Decreased circulating ceruloplasmin concentration, Elevated hepatic transaminase, Decreased circu... |
OMIM:242150 |
Renal Tubular Acidosis, Distal, 1 |
|
Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia |
OMIM:179800 |
Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
Alg6-Cdg |
|
Jaundice, Decreased LDL cholesterol concentration, Abnormal circulating enzyme concentration or a... |
ORPHA:79320 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypocalcemia, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:612526 |
Mpi-Cdg |
|
Decreased liver function, Portal hypertension, Abnormal circulating enzyme concentration or activ... |
ORPHA:79319 |
Macrophage Activation Syndrome |
|
Elevated circulating alanine aminotransferase concentration, Increased circulating lactate dehydr... |
ORPHA:158061 |
Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia |
ORPHA:54370 |
Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperlysinemia, Elevated circulating alanine aminotransferase concentration, Hyperthreoninemia, H... |
OMIM:605814 |
Genetic Recurrent Myoglobinuria |
|
Hyperphosphatemia, Highly elevated creatine kinase, Elevated circulating aldolase concentration, ... |
ORPHA:99845 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatic failure, Jaundice, Hyperbilirubinemia, Elevated hepatic transaminase, Intrahepatic choles... |
OMIM:235555 |
Alpha-Heavy Chain Disease |
|
Hypocalcemia |
ORPHA:100025 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Elevated circulating alanine aminotransferase concentration, Hypoalbuminemia |
OMIM:618805 |
Intermediate Osteopetrosis |
|
Elevated circulating alkaline phosphatase concentration, Hypocalcemia |
ORPHA:210110 |
Hypophosphatasia, Childhood |
|
Elevated plasma pyrophosphate, Low alkaline phosphatase |
OMIM:241510 |
2P21 Microdeletion Syndrome |
|
Hypocalcemia |
ORPHA:163693 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Elevated circulating alkaline phosphatase concentration, Hypophosphatemia, Hypophosphatemic rickets |
OMIM:193100 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Jaundice, Hyperbili... |
ORPHA:79302 |
Osteosclerotic Metaphyseal Dysplasia |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:615198 |
Liver Failure, Infantile, Transient |
|
Elevated circulating alanine aminotransferase concentration, Jaundice, Hyperbilirubinemia, Elevat... |
OMIM:613070 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures |
ORPHA:93324 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Elevated hepatic transaminase, Hypoalbuminemia |
OMIM:619013 |
Galloway-Mowat Syndrome 8 |
|
Hypoalbuminemia |
OMIM:618349 |
Alg1-Cdg |
|
Decreased liver function, Hypoalbuminemia |
ORPHA:79327 |
Hyperostosis Frontalis Interna |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:144800 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Elevated circulating alanine aminotransferase concentration, Jaundice, Elevated circulating aspar... |
OMIM:619662 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia |
OMIM:616267 |
Hyperparathyroidism 4 |
|
Hypercalcemia |
OMIM:617343 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Elevated circulating alkaline phosphatase concentration, Elevated circulating creatine kinase con... |
OMIM:615424 |
Epiphyseal Chondrodysplasia, Miura Type |
|
Elevated alkaline phosphatase of bone origin, Abnormal circulating beta-C-terminal telopeptide co... |
OMIM:615923 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated alkaline phosphatase of bone origin, Hepatic failure, Decreased circulating ceruloplasmi... |
OMIM:616828 |
Autoimmune Hypoparathyroidism |
|
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:36913 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased total bilirubin, Increased VLDL cholesterol concentration, Jaundice, Increased LDL chol... |
OMIM:267700 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Elevated circulating alkaline phosphatase concentration, Hypophosphatemia, Hypocalcemia |
OMIM:600081 |
Neurodevelopmental Disorder With Or Without Hypotonia, Seizures, And Cerebellar Atrophy |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:616917 |
Blue Diaper Syndrome |
|
Hyperphosphatemia, Elevated hepatic transaminase, Hypercalcemia |
ORPHA:94086 |
Autoinflammation With Infantile Enterocolitis |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
OMIM:616050 |
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures |
|
Low alkaline phosphatase |
OMIM:618879 |
Immunodeficiency 43 |
|
Decreased circulating beta-2-microglobulin level, Hypoproteinemia, Hypoalbuminemia |
OMIM:241600 |
Spastic Paraplegia-Paget Disease Of Bone Syndrome |
|
Elevated circulating alkaline phosphatase concentration |
ORPHA:329475 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatic failure, Elevated circulating C-reactive protein concentration, Fulminant hepatitis, Hypo... |
OMIM:308240 |
Amyotrophic Lateral Sclerosis 20 |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:615426 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypermethioninemia, Hepatic failure, Jaundice, Hyperbilirubinemia, Elevated hepatic transaminase,... |
OMIM:617156 |
Pseudopseudohypoparathyroidism |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:79445 |
Van Buchem Disease |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:239100 |
Hypercalcemia, Infantile, 2 |
|
Hypophosphatemia, Hypercalcemia |
OMIM:616963 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Elevated circulating alkaline phosphatase concentration, Hypophosphatemia, Hypocalcemia, Hypocalc... |
OMIM:264700 |
Galloway-Mowat Syndrome 6 |
|
Hypoalbuminemia |
OMIM:618347 |
Leishmaniasis |
|
Elevated hepatic transaminase, Hypoalbuminemia |
ORPHA:507 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
Chronic Bilirubin Encephalopathy |
|
Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia |
ORPHA:529799 |
Alpha-Fetoprotein, Hereditary Persistence Of |
|
Elevated circulating alpha-fetoprotein concentration |
OMIM:615970 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hepatic failure, Elevated hepatic transaminase, Decreased liver function, Portal hypertension, Hy... |
ORPHA:367 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hypermethioninemia, Hyperhomocystinemia, Elevated hepatic transaminase, Elevated circulating crea... |
ORPHA:88618 |
Familial Isolated Hypoparathyroidism |
|
Hypocalcemia |
ORPHA:2238 |
Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Hepatic failure, Jaundice, Abnormal serum bile acid concentration, Elevated hepatic transaminase,... |
ORPHA:79303 |
Wolcott-Rallison Syndrome |
|
Jaundice, Hyperbilirubinemia, Elevated hepatic transaminase, Hyperammonemia, Hyponatremia, Acute ... |
ORPHA:1667 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Elev... |
ORPHA:64753 |
Timothy Syndrome |
|
Hypocalcemia |
OMIM:601005 |
Osteopetrosis, Autosomal Recessive 1 |
|
Increased circulating lactate dehydrogenase concentration, Hypocalcemia, Elevated circulating alk... |
OMIM:259700 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hypokalemia, Jaundice, Elevated circulating alpha-fetoprotein concentration, Elevated gamma-gluta... |
OMIM:613095 |
Oncogenic Osteomalacia |
|
Elevated circulating alkaline phosphatase concentration, Hypophosphatemia, Hypocalcemia |
ORPHA:352540 |
Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia |
OMIM:612462 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased total bilirubin, Jaundice, Elevated hepatic transaminase, Increased circulating ferriti... |
OMIM:603553 |
Granulomatous Slack Skin |
|
Hypercalcemia |
ORPHA:33111 |
Ring Chromosome 10 Syndrome |
|
Hypocalcemia |
ORPHA:1438 |
Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Acute hyperammonemia, Hypoproteinemia, Decreased HDL cholesterol c... |
ORPHA:247585 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Decreased liver function, Elevated circulating creatinine concentration, Hypoalbuminemia |
OMIM:608104 |
Oculoskeletodental Syndrome |
|
Hypocalcemia, Hypercalcemia |
ORPHA:557003 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Elevated circulating alkaline phosphatase concentration, Elevated circulating creatine kinase con... |
OMIM:615422 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Elevated circulating alkaline phosphatase concentration, Hyperphosphatemia |
OMIM:614207 |
Primary Intestinal Lymphangiectasia |
|
Hypocalcemia, Hypoproteinemia, Hypomagnesemia, Hypoalbuminemia |
ORPHA:90362 |
Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia |
OMIM:615244 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Jaundice, Elevated hepatic transaminase, Elevated ci... |
ORPHA:26793 |
Congenital Analbuminemia |
|
Increased alpha-globulin, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia |
ORPHA:86816 |
Hepatoportal Sclerosis |
|
Jaundice, Hyperbilirubinemia, Elevated hepatic transaminase, Portal hypertension, Hypoalbuminemia |
ORPHA:64743 |
Small Cell Carcinoma Of The Bladder |
|
Hypercalcemia |
ORPHA:284400 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Abnormal lactate dehydrogenase level, Elevated hepatic transaminase, Hypercalcemia, Elevated crea... |
ORPHA:284426 |
Avian Influenza |
|
Hepatitis, Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Ele... |
ORPHA:454836 |
Immunodeficiency 27A |
|
Hypoalbuminemia |
OMIM:209950 |
Hypotonia-Cystinuria Syndrome |
|
Hypocalcemia |
OMIM:606407 |
Neuroleptic Malignant Syndrome |
|
Hyperphosphatemia, Hyperuricemia, Elevated hepatic transaminase, Hyperkalemia, Elevated circulati... |
ORPHA:94093 |
Osteosarcoma |
|
Elevated circulating alkaline phosphatase concentration, Abnormal lactate dehydrogenase level, In... |
ORPHA:668 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatic failure, Jaundice, Hyperbilirubinemia, Elevated hepatic transaminase, Elevated circulatin... |
OMIM:251880 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Hypoalbuminemia |
OMIM:614441 |
Uremic Pruritus |
|
Elevated total serum tryptase, Hypermagnesemia, Increased blood urea nitrogen, Hypercalcemia, Ren... |
ORPHA:94059 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:175500 |
Paget Disease Of Bone 6 |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:616833 |
Primary Biliary Cholangitis |
|
Hepatic failure, Abnormal circulating lipid concentration, Hepatitis, Jaundice, Elevated circulat... |
ORPHA:186 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Elevated alkaline phosphatase of bone origin, Hypophosphatemia, Hypocalcemia, Hypocalcemic seizures |
ORPHA:289157 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypocalcemia, Hypertriglyceridemia, Hypomagnesemia, Hypoalbuminemia |
OMIM:618183 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Jaundice, Elevated hepatic transaminase, Increased circulating ferritin concentration, Decreased ... |
ORPHA:540 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Intermittent jaundice, Elevated circulating alkaline phosphatase concentration, Conjugated hyperb... |
OMIM:601847 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatic failure, Hypoalbuminemia |
OMIM:602579 |
Amoebiasis Due To Entamoeba Histolytica |
|
Elevated circulating alkaline phosphatase concentration, Elevated hepatic transaminase, Hypoalbum... |
ORPHA:67 |
Lysosomal Acid Lipase Deficiency |
|
Hypercholesterolemia, Low alkaline phosphatase, Elevated circulating alanine aminotransferase con... |
OMIM:278000 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal circulating lipid concentration, Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterol... |
ORPHA:567548 |
X-Linked Agammaglobulinemia |
|
Hepatitis, Hypocalcemia |
ORPHA:47 |
Kenny-Caffey Syndrome, Type 1 |
|
Hypocalcemia, Hypomagnesemia |
OMIM:244460 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Hepatitis, Jaundice... |
OMIM:613812 |
Colchicine Poisoning |
|
Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia, Hypo... |
ORPHA:31824 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hyperalaninemia, Elevated hepatic transaminase, Elevated gamma-glutamyltransferase level, Decreas... |
OMIM:618329 |
Albers-Schönberg Osteopetrosis |
|
Hypocalcemia |
ORPHA:53 |
Eosinophilic Gastroenteritis |
|
Elevated circulating C-reactive protein concentration, Hypoalbuminemia |
ORPHA:2070 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:241410 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Elevated circulating alkaline phosphatase concentration, Elevated circulating creatine kinase con... |
OMIM:616809 |
Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:616730 |
Familial Expansile Osteolysis |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:174810 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Hypercalcemia |
ORPHA:2668 |
Specific Granule Deficiency 1 |
|
Low neutrophil alkaline phosphatase |
OMIM:245480 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Elevated circulating alkaline phosphatase concentration, Hypophosphatemic rickets |
OMIM:613312 |
Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia |
ORPHA:2494 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:122860 |
Juvenile Nephropathic Cystinosis |
|
Elevated alkaline phosphatase of bone origin, Hypocalcemic tetany, Hypophosphatemia, Hypokalemia,... |
ORPHA:411634 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hypercalcemia |
OMIM:239199 |
Congenital Enterovirus Infection |
|
Hepatitis, Hepatic failure, Hyperammonemia, Hypoalbuminemia |
ORPHA:292 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia |
ORPHA:656 |
Immunodeficiency 32B |
|
Hypoalbuminemia |
OMIM:226990 |
Dahlberg-Borer-Newcomer Syndrome |
|
Hypocalcemia |
ORPHA:1563 |
Pseudohypoparathyroidism Type 1B |
|
Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypocalcemic seizures, Hypocalcemia |
ORPHA:94089 |
Glycosylphosphatidylinositol Biosynthesis Defect 25 |
|
Low alkaline phosphatase |
OMIM:619985 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:93160 |
Nephrotic Syndrome, Type 14 |
|
Hypertriglyceridemia, Hypoalbuminemia |
OMIM:617575 |
Vascular Malformation, Primary Intraosseous |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:606893 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatic failure, Hypoproteinemia, Hypocalcemia |
OMIM:235255 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Elevated circulating alkaline phosphatase concentration, Hypophosphatemia, Elevated hepatic trans... |
OMIM:616026 |
Bacterial Toxic-Shock Syndrome |
|
Hepatitis, Elevated circulating creatine kinase concentration, Elevated circulating creatinine co... |
ORPHA:36234 |
Cog4-Cdg |
|
Elevated circulating alkaline phosphatase concentration, Fatal liver failure in infancy, Elevated... |
ORPHA:263501 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Decreased prealbumin level, Hepatitis, Elevated hepatic transaminase, Abnormal blood ion concentr... |
ORPHA:37042 |
Fanconi Renotubular Syndrome 1 |
|
Elevated circulating alkaline phosphatase concentration, Hypokalemia, Hypophosphatemia |
OMIM:134600 |
Fanconi-Bickel Syndrome |
|
Elevated circulating alkaline phosphatase concentration, Hypokalemia, Hypophosphatemia, Hypouricemia |
OMIM:227810 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Elevated circulating alkaline phosphatase concentration, Hepatic failure, Elevated hepatic transa... |
OMIM:613489 |
Diffuse Neonatal Hemangiomatosis |
|
Hypercalcemia |
ORPHA:2123 |
Oculoskeletodental Syndrome |
|
Hypocalcemia, Hypercalcemia |
OMIM:618440 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Hypocalcemia |
OMIM:607143 |
Cholera |
|
Hypokalemia, Hypocalcemia, Abnormal blood ion concentration, Hyponatremia |
ORPHA:173 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoproteinemia, Hypoalbuminemia |
OMIM:226300 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatic failure, Jaundice, Elevated hepatic transaminase, Abnormal circulating fatty-acid concent... |
ORPHA:567983 |
Wilson Disease |
|
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Jaundice, Decreased... |
OMIM:277900 |
Leigh Syndrome With Nephrotic Syndrome |
|
Hypoalbuminemia |
ORPHA:255249 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Abnormality of alkaline phosphatase level |
OMIM:619356 |
Glycosylphosphatidylinositol Biosynthesis Defect 11 |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:616025 |
Gracile Bone Dysplasia |
|
Hypocalcemia |
OMIM:602361 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatic failure, Hypoproteinemia, Hypocalcemia |
ORPHA:1655 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypocalcemia, Chronic hepatic failure |
ORPHA:746 |
Hepatocellular Carcinoma |
|
Jaundice, Hypokalemia, Elevated hepatic transaminase, Hyperbilirubinemia, Hypercalcemia, Hyponatr... |
ORPHA:88673 |
Juvenile Polyposis Syndrome |
|
Hypokalemia, Hypoalbuminemia |
OMIM:174900 |
Sanjad-Sakati Syndrome |
|
Hypocalcemia, Hyperphosphatemia |
ORPHA:2323 |
Al Amyloidosis |
|
Elevated circulating alkaline phosphatase concentration, Hypoalbuminemia, Increased circulating N... |
ORPHA:85443 |
Hypercalcemia, Infantile, 1 |
|
Hypercalcemia |
OMIM:143880 |
Familial Isolated Hyperparathyroidism |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:99879 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypercalcemia, Hypermagnesemia |
OMIM:145980 |
Paget Disease Of Bone 2, Early-Onset |
|
Elevated circulating alkaline phosphatase concentration, Hypercalcemia |
OMIM:602080 |
Aicardi-Goutieres Syndrome 9 |
|
Portal hypertension, Elevated hepatic transaminase, Hypoalbuminemia |
OMIM:619487 |
Celiac Disease, Susceptibility To, 1 |
|
Hypocalcemia, Elevated hepatic transaminase |
OMIM:212750 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Elevated circulating alkaline phosphatase concentration, Abnormal circulating calcium concentrati... |
OMIM:307800 |
Alg12-Cdg |
|
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Hyponatremi... |
ORPHA:79324 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Hypocalcemia |
OMIM:618476 |
Pseudohypoparathyroidism Type 1C |
|
Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypocalcemic seizures, Hypocalcemia |
ORPHA:79444 |
Xfe Progeroid Syndrome |
|
Elevated hepatic transaminase, Hypoalbuminemia |
OMIM:610965 |
Paget Disease Of Bone 3 |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:167250 |
Kenny-Caffey Syndrome, Type 2 |
|
Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia |
OMIM:127000 |
Hypophosphatasia, Infantile |
|
Elevated plasma pyrophosphate, Low alkaline phosphatase, Hypercalcemia |
OMIM:241500 |
Fanconi-Bickel Syndrome |
|
Hepatic failure, Elevated circulating alanine aminotransferase concentration, Hypophosphatemia, E... |
ORPHA:2088 |
Double Outlet Right Ventricle |
|
Hypocalcemia |
ORPHA:3426 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Elevated circulating alkaline phosphatase concentration, Abnormal circulating calcium concentrati... |
OMIM:241530 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Elevated alkaline phosphatase of bone origin, Elevated circulating creatine kinase concentration |
OMIM:167320 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypercalcemia |
OMIM:614732 |
Rhabdoid Tumor |
|
Hypercalcemia |
ORPHA:69077 |
Hypophosphatasia |
|
Hypercalcemia |
ORPHA:436 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia |
ORPHA:73224 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypercalcemia, Hypermagnesemia |
OMIM:145981 |
Refractory Anemia With Excess Blasts |
|
Abnormal circulating albumin concentration, Abnormal circulating protein concentration |
ORPHA:86839 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Elevated circulating alkaline phosphatase concentration, Elevated circulating creatine kinase con... |
ORPHA:52430 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hypocholesterolemia, Elevated hepatic transaminase, Hypoalbuminemia |
OMIM:212065 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Decreased plasma carnitine, Decreased serum iron, Abnormal circulating selenium concentration, De... |
ORPHA:89842 |
Visceral Steatosis, Congenital |
|
Jaundice, Hypocalcemia |
OMIM:228100 |
Autosomal Dominant Hypocalcemia |
|
Hypocalcemia, Hypomagnesemia, Hyperphosphatemia |
ORPHA:428 |
Abetalipoproteinemia |
|
Decreased LDL cholesterol concentration, Hyperbilirubinemia, Elevated hepatic transaminase, Abnor... |
ORPHA:14 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia |
OMIM:612089 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatic failure, Hypocalcemia, Hyperbilirubinemia |
OMIM:259720 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Elevated circulating alkaline phosphatase concentration, Hypophosphatemia, Hypercalcemia |
OMIM:156400 |
Trichohepatoenteric Syndrome 1 |
|
Hypermethioninemia, Hepatic failure, Abnormality of iron homeostasis, Jaundice, Increased serum i... |
OMIM:222470 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Calcinosis, Hypocalcemia, Hypokalemia, Hyponatremia |
OMIM:617913 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated circulating alkaline phosphatase concentration, Hypophosphatemic rickets, Elevated hepat... |
ORPHA:263455 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hypoalbuminemia |
OMIM:617303 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated gamma-glutamyltransferase level, Elevated circulating alkaline phosphatase concentration... |
OMIM:614576 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Elevated alkaline phosphatase of bone origin, Hypophosphatemia, Hypophosphatemic rickets, Increas... |
ORPHA:157215 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hypercalcemia |
OMIM:145001 |
Intrahepatic Cholestasis Of Pregnancy |
|
Jaundice, Hyperbilirubinemia, Elevated hepatic transaminase, Elevated circulating alkaline phosph... |
ORPHA:69665 |
Camurati-Engelmann Disease, Type 2 |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:606631 |
Xq12-Q13.3 Duplication Syndrome |
|
Low alkaline phosphatase, Elevated circulating creatine kinase concentration |
ORPHA:314389 |
Leukemia, Chronic Myeloid |
|
Reduced leukocyte alkaline phosphatase |
OMIM:608232 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:619055 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Unconjugated hyperbilirubinemia, Elevated hepatic transaminase, Portal hypertension, Decreased li... |
OMIM:613658 |
Pseudohypoparathyroidism Type 1A |
|
Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypocalcemic seizures, Hypocalcemia |
ORPHA:79443 |
Primary Sclerosing Cholangitis |
|
Elevated alkaline phosphatase of hepatic origin, Hepatitis, Jaundice, Elevated hepatic transamina... |
ORPHA:171 |
Exercise-Induced Malignant Hyperthermia |
|
Hepatic failure, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentrat... |
ORPHA:466650 |
Glucose-Galactose Malabsorption |
|
Hypernatremia, Hypercalcemia |
ORPHA:35710 |
Vitamin D-Dependent Rickets, Type 2A |
|
Elevated circulating alkaline phosphatase concentration, Hypophosphatemia, Hypocalcemic seizures |
OMIM:277440 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:615716 |
Gallbladder Disease 1 |
|
Elevated circulating alkaline phosphatase concentration, Jaundice, Elevated hepatic transaminase |
OMIM:600803 |
Pseudohypoparathyroidism, Type Ia |
|
Hypocalcemic tetany, Hyperphosphatemia |
OMIM:103580 |
Caroli Disease |
|
Elevated circulating alanine aminotransferase concentration, Jaundice, Intrahepatic cholestasis, ... |
ORPHA:53035 |
Pearson Syndrome |
|
Hepatic failure, Hyperalaninemia, Hypophosphatemia, Hypokalemia, Elevated hepatic transaminase, H... |
ORPHA:699 |
Isolated Biliary Atresia |
|
Jaundice, Elevated hepatic transaminase, Elevated gamma-glutamyltransferase level, Elevated circu... |
ORPHA:30391 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Hypoalbuminemia |
OMIM:235510 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Elevated circulating alkaline phosphatase concentration |
ORPHA:529665 |
Ethylene Glycol Poisoning |
|
Hypocalcemia, Hyperkalemia |
ORPHA:31826 |
Non-Functioning Paraganglioma |
|
Hypercalcemia |
ORPHA:94080 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:126550 |
Hypophosphatasia, Adult |
|
Low alkaline phosphatase |
OMIM:146300 |
Galloway-Mowat Syndrome 3 |
|
Hypoalbuminemia |
OMIM:617729 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hyperlipidemia, Hypoalbuminemia |
ORPHA:567546 |
Igg4-Related Thyroid Disease |
|
Hypocalcemia |
ORPHA:64744 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Hypercalcemia |
OMIM:171420 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Elevated circulating alkaline phosphatase concentration, Hydroxyprolinemia, Hyperuricemia, Hyperp... |
OMIM:239000 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Hypoalbuminemia |
OMIM:254900 |
Cystic Echinococcosis |
|
Jaundice, Hyperbilirubinemia, Elevated hepatic transaminase, Elevated gamma-glutamyltransferase l... |
ORPHA:400 |
Secondary Intestinal Lymphangiectasia |
|
Hypocholesterolemia, Decreased prealbumin level, Reduced circulating transferrin concentration, H... |
ORPHA:90363 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypophosphatemia, Hypercalcemia, Hypermagnesemia |
OMIM:600740 |
Infantile Myofibromatosis |
|
Hypercalcemia |
ORPHA:2591 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Low alkaline phosphatase, Decreased serum zinc |
OMIM:201100 |
Isotretinoin-Like Syndrome |
|
Hypocalcemia |
ORPHA:2306 |
Galloway-Mowat Syndrome 1 |
|
Hypoalbuminemia |
OMIM:251300 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypocalcemia, Hypocalcemic seizures |
ORPHA:2237 |
Graft Versus Host Disease |
|
Jaundice, Hyperbilirubinemia, Elevated hepatic transaminase, Elevated circulating alkaline phosph... |
ORPHA:39812 |
Osteopetrosis With Renal Tubular Acidosis |
|
Hypocalcemia, Abnormal circulating enzyme concentration or activity, Elevated circulating creatin... |
ORPHA:2785 |
Aggressive Systemic Mastocytosis |
|
Decreased liver function, Portal hypertension, Elevated circulating alkaline phosphatase concentr... |
ORPHA:98850 |
Mirizzi Syndrome |
|
Elevated circulating alkaline phosphatase concentration, Jaundice, Elevated hepatic transaminase,... |
ORPHA:521219 |
Insulin-Resistance Syndrome Type B |
|
Abnormal circulating lipid concentration, Hypoalbuminemia, Abnormal circulating fatty-acid concen... |
ORPHA:2298 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:600785 |
Marburg Hemorrhagic Fever |
|
Hypokalemia, Jaundice, Elevated hepatic transaminase, Elevated circulating creatine kinase concen... |
ORPHA:99826 |
Cartilage-Hair Hypoplasia |
|
Hypocalcemia |
ORPHA:175 |
Velocardiofacial Syndrome |
|
Hypocalcemia |
OMIM:192430 |
Liver Disease, Severe Congenital |
|
Hepatic failure, Hyperalaninemia, Elevated hepatic iron concentration, Jaundice, Hyperbilirubinem... |
OMIM:619991 |
Hyperparathyroidism, Neonatal Severe |
|
Hypophosphatemia, Hypercalcemia, Calcinosis |
OMIM:239200 |
Craniofacioskeletal Syndrome |
|
Hypocalcemia |
OMIM:300712 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hypoalbuminemia |
ORPHA:505248 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hypocalcemia, Hyperbilirubinemia |
ORPHA:163979 |
Late-Onset Isolated Acth Deficiency |
|
Hyperuricemia, Hepatitis, Hyperkalemia, Hypercalcemia, Hyponatremia |
ORPHA:199299 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Hypoalbuminemia |
ORPHA:79396 |
Lysosomal Acid Lipase Deficiency |
|
Hypercholesterolemia, Hepatic failure, Jaundice, Elevated hepatic transaminase, Hyperkalemia, Ele... |
ORPHA:275761 |
Gitelman Syndrome |
|
Hypokalemia, Hypocalcemia, Hypomagnesemia, Hypermagnesemia |
ORPHA:358 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hypocalcemia, Hyperkalemia, Hyponatremia |
ORPHA:544482 |
Cranioectodermal Dysplasia 1 |
|
Hepatic failure, Hypocalcemia |
OMIM:218330 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Intermittent jaundice, Elevated alkaline phosphatase of hepatic origin, Elevated hepatic transami... |
ORPHA:100085 |
Familial Hypocalciuric Hypercalcemia |
|
Hypocalcemic seizures, Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia |
ORPHA:405 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Hyperbilirubinemia, Interface hepatitis, Elevated hepatic transaminase, Elevated gamma-glutamyltr... |
ORPHA:562639 |
Fibrodysplasia Ossificans Progressiva |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:135100 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Elevated alkaline phosphatase of bone origin, Hypocalcemic tetany, Hypophosphatemic rickets, Rena... |
ORPHA:289176 |
Thymic Neuroendocrine Tumor |
|
Hypercalcemia |
ORPHA:97289 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Elevated circulating alanine aminotransferase concentration, Elevated circulating phytanic acid c... |
OMIM:614866 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Increased blood urea nitrogen, Hypercalcemia |
ORPHA:251004 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Elevated gamma-glutamyltransferase level, Elevated circulating creatinine concentration, Elevated... |
ORPHA:247691 |
Caroli Syndrome |
|
Hepatic failure, Jaundice, Hyperbilirubinemia, Elevated hepatic transaminase, Intrahepatic choles... |
ORPHA:480520 |
Hennekam Syndrome |
|
Hypocalcemia |
ORPHA:2136 |
Reynolds Syndrome |
|
Calcinosis, Jaundice, Hyperbilirubinemia, Elevated hepatic transaminase, Elevated circulating alk... |
OMIM:613471 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:667 |
Wild Type Attr Amyloidosis |
|
Elevated circulating alkaline phosphatase concentration |
ORPHA:330001 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Elevated circulating alanine aminotransferase concentration, Jaundice, Hyperbilirubinemia, Elevat... |
OMIM:619534 |
Juvenile Polyposis Of Infancy |
|
Hypoalbuminemia |
ORPHA:79076 |
Osteogenesis Imperfecta, Type Xi |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:610968 |
Acrodysostosis With Multiple Hormone Resistance |
|
Hypocalcemia, Hyperphosphatemia |
ORPHA:280651 |
22Q11.2 Deletion Syndrome |
|
Hypocalcemia |
ORPHA:567 |
Immunodeficiency 82 With Systemic Inflammation |
|
Hepatitis, Hypernatremia, Elevated circulating C-reactive protein concentration, Hypoalbuminemia |
OMIM:619381 |
Fibrous Dysplasia Of Bone |
|
Elevated circulating alkaline phosphatase concentration, Hypophosphatemia, Hypercalcemia |
ORPHA:249 |
Acute Adrenal Insufficiency |
|
Hyperuricemia, Hyperkalemia, Increased circulating renin level, Hypercalcemia, Hyponatremia |
ORPHA:95409 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Low alkaline phosphatase, Hypertriglyceridemia, Hypercalcemia |
ORPHA:369837 |
Smith-Lemli-Opitz Syndrome |
|
Hypocholesterolemia, Elevated 7-dehydrocholesterol, Hypoalbuminemia |
OMIM:270400 |
Renal Cysts And Diabetes Syndrome |
|
Elevated circulating creatinine concentration, Hyperuricemia, Elevated hepatic transaminase, Abno... |
OMIM:137920 |
Thymic Aplasia |
|
Hypocalcemic tetany, Atypical or prolonged hepatitis |
ORPHA:83471 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:93325 |
Monosomy 13Q34 |
|
Hypercalcemia |
ORPHA:96168 |
Alpha-Fetoprotein Deficiency |
|
Decreased circulating alpha-fetoprotein concentration |
OMIM:615969 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypercalcemia |
ORPHA:276621 |
Developmental And Epileptic Encephalopathy 80 |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:618580 |
Senior-Boichis Syndrome |
|
Elevated circulating alkaline phosphatase concentration, Portal hypertension, Elevated hepatic tr... |
ORPHA:84081 |
Bartter Syndrome, Type 1, Antenatal |
|
Increased serum prostaglandin E2, Hypokalemia, Increased circulating renin level, Hyperchloriduri... |
OMIM:601678 |
Pheochromocytoma |
|
Hypercalcemia |
OMIM:171300 |
Multiple Myeloma |
|
Elevated circulating creatinine concentration, Hyperproteinemia, Hypercalcemia |
ORPHA:29073 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Hypercalcemia |
ORPHA:476126 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Elevated circulating alkaline phosphatase concentration |
ORPHA:247262 |
Developmental And Epileptic Encephalopathy 95 |
|
Elevated circulating alkaline phosphatase concentration, Low alkaline phosphatase |
OMIM:618143 |
Mastocytosis |
|
Hypercalcemia |
ORPHA:98292 |
Lathosterolosis |
|
Abnormal circulating cholesterol concentration, Hyperbilirubinemia, Elevated hepatic transaminase... |
OMIM:607330 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:239300 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:614749 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Portal hypertension, Hypocalcemia, Hypomagnesemia |
OMIM:619503 |
Raine Syndrome |
|
Elevated circulating alkaline phosphatase concentration, Hypophosphatemia |
OMIM:259775 |
Craniometadiaphyseal Dysplasia |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:269300 |
Trichohepatoneurodevelopmental Syndrome |
|
Decreased liver function, Elevated circulating alkaline phosphatase concentration, Increased seru... |
OMIM:618268 |
Hypophosphatemic Rickets |
|
Elevated circulating alkaline phosphatase concentration, Hypophosphatemia, Hypercalcemia |
ORPHA:437 |
Ppoma |
|
Intermittent jaundice, Hypercalcemia, Intrahepatic cholestasis |
ORPHA:97278 |
Vipoma |
|
Intermittent jaundice, Hypokalemia, Hypercalcemia, Intrahepatic cholestasis |
ORPHA:97282 |
Addison Disease |
|
Hyperuricemia, Hyperkalemia, Increased circulating renin level, Hypercalcemia, Hyponatremia |
ORPHA:85138 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Hypercalcemia |
ORPHA:29072 |
Eiken Syndrome |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:600002 |
Somatostatinoma |
|
Intermittent jaundice, Hypercalcemia, Intrahepatic cholestasis |
ORPHA:97283 |
Boudin-Mortier Syndrome |
|
Elevated alkaline phosphatase of bone origin |
OMIM:619543 |
Gorham-Stout Disease |
|
Elevated alkaline phosphatase of bone origin |
ORPHA:73 |
Grfoma |
|
Intermittent jaundice, Hypercalcemia, Intrahepatic cholestasis |
ORPHA:97261 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Elevated hepatic transaminase, Elevated gamma-glutamyltransferase level, Hypertyrosinemia, Elevat... |
OMIM:124000 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Hypoalbuminemia |
OMIM:614748 |
Multiple Endocrine Neoplasia, Type I |
|
Hypercalcemia |
OMIM:131100 |
Johanson-Blizzard Syndrome |
|
Hepatic failure, Increased VLDL cholesterol concentration, Hypocalcemia |
OMIM:243800 |
X-Linked Hypophosphatemia |
|
Elevated circulating alkaline phosphatase concentration, Hypophosphatemia |
ORPHA:89936 |
Glucagonoma |
|
Intermittent jaundice, Hypercalcemia, Intrahepatic cholestasis |
ORPHA:97280 |
Hyperparathyroidism, Transient Neonatal |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:618188 |
Digeorge Syndrome |
|
Hypocalcemia |
OMIM:188400 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:618162 |
Zollinger-Ellison Syndrome |
|
Jaundice, Hypercalcemia |
ORPHA:913 |
Gallbladder Neuroendocrine Tumor |
|
Intermittent jaundice, Elevated gamma-glutamyltransferase level, Elevated alkaline phosphatase of... |
ORPHA:100086 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Elevated circulating alkaline phosphatase concentration, Elevated hepatic iron concentration |
OMIM:300868 |
Estrogen Resistance Syndrome |
|
Elevated tissue non-specific alkaline phosphatase |
ORPHA:785 |
Charge Syndrome |
|
Hypocalcemia |
OMIM:214800 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:618548 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:99880 |
Parathyroid Carcinoma |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:143 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Elevated circulating alkaline phosphatase concentration, Portal hypertension, Elevated hepatic tr... |
OMIM:620005 |
Estrogen Resistance |
|
Elevated alkaline phosphatase of bone origin |
OMIM:615363 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated circulating alanine aminotransferase concentration, Elevated hepatic transaminase, Eleva... |
OMIM:619525 |
Tropical Endomyocardial Fibrosis |
|
Hypoalbuminemia |
ORPHA:75565 |
Multiple Endocrine Neoplasia Type 4 |
|
Hypercalcemia |
ORPHA:276152 |
Multiple Endocrine Neoplasia Type 2 |
|
Hypercalcemia |
ORPHA:653 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Elevated alkaline phosphatase of bone origin |
ORPHA:85188 |
Sarcoidosis |
|
Decreased liver function, Hepatic failure, Portal hypertension, Hypercalcemia |
ORPHA:797 |
Multiple Endocrine Neoplasia Type 1 |
|
Hypercalcemia |
ORPHA:652 |
Williams Syndrome |
|
Abnormal circulating lipid concentration, Hypercalcemia, Elevated circulating creatine kinase con... |
ORPHA:904 |
Pmm2-Cdg |
|
Reduced thyroxin-binding globulin, Elevated hepatic transaminase, Hypoalbuminemia |
ORPHA:79318 |
Osteopetrosis, Autosomal Recessive 7 |
|
Hypocalcemic seizures |
OMIM:612301 |
Williams-Beuren Syndrome |
|
Portal hypertension, Hypercalcemia |
OMIM:194050 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Abnormality of alkaline phosphatase level |
OMIM:300106 |
Sotos Syndrome |
|
Prolonged neonatal jaundice, Hypercalcemia |
ORPHA:821 |
Generalized Arterial Calcification Of Infancy |
|
Elevated alkaline phosphatase of bone origin, Hypophosphatemic rickets |
ORPHA:51608 |
Hyperthyroxinemia, Familial Dysalbuminemic |
|
|
OMIM:615999 |