Iron Overload, Susceptibility To |
|
Elevated circulating hepcidin concentration, Increased circulating ferritin concentration, Elevat... |
OMIM:620121 |
Hemochromatosis, Type 5 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... |
OMIM:615517 |
Genetic Hyperferritinemia Without Iron Overload |
|
Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe... |
ORPHA:254704 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Increased serum iron, Elevated hepatic iron concentration |
OMIM:206100 |
Gracile Syndrome |
|
Increased circulating ferritin concentration, Cholestasis, Cirrhosis, Elevated hepatic iron conce... |
ORPHA:53693 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Elevated transferrin saturation |
OMIM:205950 |
Gracile Syndrome |
|
Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron, Cho... |
OMIM:603358 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Elevated transferrin saturation, Increased circulating ferritin conce... |
OMIM:615234 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundic... |
OMIM:616860 |
Hemochromatosis, Neonatal |
|
Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis, Increased ser... |
OMIM:231100 |
Idiopathic Copper-Associated Cirrhosis |
|
Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Cirrhosis, Incre... |
ORPHA:209919 |
Neonatal Hemochromatosis |
|
Congenital hepatic fibrosis, Increased serum iron, Increased circulating ferritin concentration, ... |
ORPHA:446 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Increased circulating ferritin concentra... |
ORPHA:139507 |
Hjv Or Hamp-Related Hemochromatosis |
|
Elevated hepatic transaminase, Congenital hepatic fibrosis, Elevated transferrin saturation, Incr... |
ORPHA:79230 |
Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Increased circulating ferritin concentration, Elevat... |
OMIM:613313 |
X-Linked Sideroblastic Anemia |
|
Elevated hepatic transaminase, Splenomegaly, Abnormality of iron homeostasis |
ORPHA:75563 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... |
OMIM:616278 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Elevated hepatic transaminase, Increased circulating ferritin concentration, Hepatosplenomegaly, ... |
ORPHA:300298 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract, Ataxia |
ORPHA:1397 |
Blue Diaper Syndrome |
|
Nephrocalcinosis, Abnormal circulating tryptophan concentration, Hypercalcemia |
OMIM:211000 |
Mednik Syndrome |
|
Intrahepatic cholestasis, Decreased circulating ceruloplasmin concentration, Decreased circulatin... |
ORPHA:171851 |
Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Hep... |
ORPHA:101330 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cataract, Spastic gait, Limb ataxia, Gait ataxia |
OMIM:617133 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
Hemochromatosis, Type 3 |
|
Elevated hepatic transaminase, Increased circulating ferritin concentration, Elevated transferrin... |
OMIM:604250 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Cirr... |
OMIM:606069 |
Zinc Deficiency, Transient Neonatal |
|
Decreased serum zinc |
OMIM:608118 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Increased serum iron, C... |
OMIM:602390 |
Hypercalcemia, Infantile, 2 |
|
Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Hypophosphate... |
OMIM:616963 |
Aceruloplasminemia |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, De... |
ORPHA:48818 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Splenomegaly, Elevated transferrin saturation, Increased circulating ferritin concentration, Incr... |
ORPHA:766 |
Galactosemia Ii |
|
Cataract, Hypergalactosemia, Galactosuria |
OMIM:230200 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Beta-Thalassemia Intermedia |
|
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Jaundice, Hepatosplenomegaly, Abnormality o... |
ORPHA:231222 |
Hypercalcemia, Infantile, 1 |
|
Hypercalcemia, Polyuria, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Lethargy, Medullary n... |
OMIM:143880 |
Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
Glucose-Galactose Malabsorption |
|
Renal insufficiency, Hypercalcemia, Nephrolithiasis, Hematuria, Hypernatremia |
ORPHA:35710 |
Galactosemia Iv |
|
Cataract, Hypergalactosemia |
OMIM:618881 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Abnormal urine sebacic acid concentration, Hyp... |
OMIM:615751 |
Dysequilibrium Syndrome |
|
Cataract, Ataxia, Gait disturbance |
ORPHA:1766 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Increased hepatic glycogen content, Copper accumulation in liver, Elevated hepatic iron concentra... |
OMIM:614946 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Aceruloplasminemia |
|
Increased circulating ferritin concentration, Aceruloplasminemia, Decreased serum iron |
OMIM:604290 |
Chronic Bilirubin Encephalopathy |
|
Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Hypernatremia, Neonatal h... |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Hypernatremia, Neonatal h... |
ORPHA:529799 |
Granulomatous Slack Skin |
|
Nephrocalcinosis, Acute kidney injury, Hypercalcemia |
ORPHA:33111 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Polydipsia, Hypernatremia, Megacystis, Polyuria |
OMIM:125800 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Polydipsia, Hypernatremia, Megacystis, Polyuria |
OMIM:304800 |
Beta-Thalassemia |
|
Hepatomegaly, Splenomegaly, Hepatitis, Abnormality of iron homeostasis, Cholelithiasis |
ORPHA:848 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Cataract, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
Nephrogenic Diabetes Insipidus |
|
Renal insufficiency, Hydroureter, Anorexia, Functional abnormality of the bladder, Enuresis noctu... |
ORPHA:223 |
Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Falls, Elevated circulating creatine kinase concentration |
OMIM:615883 |
Hyperparathyroidism 4 |
|
Nephrolithiasis, Hypercalcemia |
OMIM:617343 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Decreased serum iron |
OMIM:212050 |
Congenital Disorder Of Glycosylation, Type Iiq |
|
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Decreased circu... |
OMIM:617395 |
Central Diabetes Insipidus |
|
Hyponatremia, Anorexia, Lethargy, Polydipsia, Nocturia |
ORPHA:178029 |
Irida Syndrome |
|
Intrahepatic cholestasis, Decreased circulating copper concentration |
ORPHA:209981 |
Spastic Paraparesis-Deafness Syndrome |
|
Cataract, Ataxia, Gait disturbance |
ORPHA:2815 |
Cog2-Cdg |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, De... |
ORPHA:435934 |
Hyperzincemia With Functional Zinc Depletion |
|
Hepatomegaly, Increased serum zinc |
OMIM:601979 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia, Ataxia |
OMIM:616949 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Polyuria, Nephrocalcinosis, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
Hypermanganesemia With Dystonia 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Increased total iron binding capa... |
OMIM:613280 |
Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Decreased HDL cholesterol concentration, Corneal arcus, Cataract |
OMIM:618463 |
Nephrotic Syndrome, Type 2 |
|
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... |
OMIM:600995 |
Nephrotic Syndrome, Type 15 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ... |
OMIM:617609 |
Huppke-Brendel Syndrome |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration |
OMIM:614482 |
Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Ataxia, Anorexia, Recurrent hand f... |
ORPHA:3008 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Nephrocalcinosis, Hypercalciuria, Hypercalcemia, Renal tubular acidosis |
OMIM:239199 |
Nephrotic Syndrome, Type 9 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbuminemia,... |
OMIM:615573 |
Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Proteinuria, Elevated circulating creatine kinase concentration, Urinary incontinen... |
ORPHA:94093 |
Small Cell Carcinoma Of The Bladder |
|
Dysuria, Hematuria, Hypercalcemia |
ORPHA:284400 |
Blue Diaper Syndrome |
|
Nephrocalcinosis, Blue urine, Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Hyperkalemia |
OMIM:143860 |
Oculoskeletodental Syndrome |
|
Nephrocalcinosis, Hypercalcemia, Hypocalcemia, Developmental cataract |
ORPHA:557003 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Renal insufficiency, Proteinuria, Hypercalcemia |
ORPHA:2668 |
Focal Segmental Glomerulosclerosis 6 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... |
OMIM:614131 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
Copper Deficiency, Familial Benign |
|
Decreased circulating copper concentration |
OMIM:121270 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Steppage gait, Hypoalbuminemia, Ataxia |
ORPHA:94124 |
Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
Familial Isolated Hyperparathyroidism |
|
Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypophos... |
ORPHA:99879 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Steppage gait, Hypoalbuminemia, Ataxia |
OMIM:607250 |
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia |
ORPHA:3225 |
Diffuse Neonatal Hemangiomatosis |
|
Renal insufficiency, Hypercalcemia |
ORPHA:2123 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Broad-based gait, Cataract, Hypoalbuminemia |
OMIM:618805 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Elevated hepatic transaminase, Increased serum iron, Increased total iron binding capacity, Hyper... |
ORPHA:98870 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypercalciuria, Micropenis, Hypospadias, Hypercalcemia |
OMIM:614732 |
Nephrotic Syndrome, Type 7 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic... |
OMIM:615008 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract, Hyperbilirubinemia |
OMIM:618660 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia |
DECIPHER:16 |
Webb-Dattani Syndrome |
|
Neurogenic bladder, Hyposthenuria, Vesicoureteral reflux, Hypernatremia, Hydronephrosis |
OMIM:615926 |
Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Increased circulating ferritin concentration, Spleno... |
OMIM:235200 |
Primary Membranoproliferative Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot... |
ORPHA:54370 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Hepatocellular carcinoma, Splenomegaly, In... |
ORPHA:465508 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Cataract, Elevated circulating creatine kinase concentration |
OMIM:609115 |
Familial Benign Copper Deficiency |
|
Decreased circulating copper concentration |
ORPHA:1551 |
Trichomegaly |
|
Cataract |
OMIM:190330 |
Phenylketonuria |
|
Maternal hyperphenylalaninemia, Hyperactivity, Cataract, Elevated urinary phenylpyruvic acid leve... |
OMIM:261600 |
Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Cirrhosis, Decreased serum iron, Chronic hepatitis |
OMIM:614602 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypernatremia, Hypoalbuminemia |
OMIM:615508 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Nephrolithiasis, Hypercalcemia, Polycystic kidney dysplasia |
OMIM:145001 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin... |
OMIM:300539 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
3-Methylglutaconic aciduria, Cataract |
OMIM:619813 |
Hypocalcemia, Autosomal Dominant 1 |
|
Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Hyperphosphatemia, Increased circ... |
OMIM:601198 |
Renal Hypoplasia, Bilateral |
|
Hyponatremia, Proteinuria, Chronic kidney disease, Hyperkalemia, Renal hypoplasia, Renal cyst, Ol... |
ORPHA:97362 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Cataract, Inability to walk, Renal hypoplasia, Nephrocalcinosis, Hypoka... |
OMIM:617913 |
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect |
|
Abnormal circulating creatine kinase concentration, Abnormal circulating copper concentration |
ORPHA:521411 |
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Cataract, Gait disturbance, Elevated circulating creatine kinase concentration, Tip-toe gait |
OMIM:617404 |
Nephrotic Syndrome, Type 6 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... |
OMIM:614196 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Hypercalcemia, Exercise-induced myoglobinuria, Chronic kidney disease, Elevated creatine kinase a... |
ORPHA:284426 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Restlessness, Abnormal circulating porphyrin concentration, Abnormal fear-induced b... |
ORPHA:100924 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Renal salt wasting |
OMIM:610600 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Renal salt wasting |
OMIM:203400 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l... |
OMIM:300971 |
Rhabdoid Tumor |
|
Hematuria, Hypercalcemia |
ORPHA:69077 |
Nephrotic Syndrome, Type 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... |
OMIM:610725 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta... |
ORPHA:309854 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypercalcemia, Hypermagnesemia, Nephrolithiasis, Hypercalciuria, Hypocalciuria |
OMIM:145980 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Nephrotic syndrome, Hypoalbuminemia, Proteinuria |
OMIM:614652 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
Bardet-Biedl Syndrome 18 |
|
Renal insufficiency, Cataract, Stage 5 chronic kidney disease |
OMIM:615995 |
Focal Segmental Glomerulosclerosis 1 |
|
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... |
OMIM:603278 |
Oculoskeletodental Syndrome |
|
Hypercalcemia, Hypercalciuria, Developmental cataract, Mucopolysacchariduria, Hypocalcemia |
OMIM:618440 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620126 |
Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia, Ataxia |
ORPHA:163921 |
Familial Isolated Hypoparathyroidism |
|
Nephropathy, Cataract, Hypocalcemia |
ORPHA:2238 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Hypermagnes... |
OMIM:145981 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620125 |
Hypophosphatasia, Infantile |
|
Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Hypercalcemia, Anorexia, Hypercalciu... |
OMIM:241500 |
Non-Functioning Paraganglioma |
|
Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated u... |
ORPHA:94080 |
Pheochromocytoma |
|
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Developmental cataract, Renal ... |
OMIM:171300 |
Juvenile Nephropathic Cystinosis |
|
Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuria, Hypocalcem... |
ORPHA:411634 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Waddling gait, Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypophosphatemia |
OMIM:156400 |
Autoimmune Hypoparathyroidism |
|
Calcium nephrolithiasis, Cataract, Hyperphosphatemia, Conjunctivitis, Hypocalcemia, Hypocalcemic ... |
ORPHA:36913 |
Renal Tubular Acidosis, Distal, 1 |
|
Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N... |
OMIM:179800 |
Morm Syndrome |
|
Hyperactivity, Cataract, Micropenis, Aggressive behavior |
ORPHA:75858 |
Leukoencephalopathy With Vanishing White Matter 2 |
|
Unsteady gait, Cataract |
OMIM:620312 |
Uremic Pruritus |
|
Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k... |
ORPHA:94059 |
Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hypokalemia, Gait... |
ORPHA:682 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Ataxia, Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotei... |
ORPHA:64753 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... |
OMIM:619868 |
Hypophosphatasia |
|
Hypercalcemia |
ORPHA:436 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased circulating creatine kinase MM isoform, Hypoalbuminemia, Hypermethioninemia |
OMIM:613752 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Ataxia, Elevated circulating creatine kinase concentration, Limb ataxia, Gait ataxia, Hypoalbumin... |
OMIM:208920 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab... |
OMIM:600740 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures |
ORPHA:2239 |
Fibronectin Glomerulopathy |
|
Renal insufficiency, Proteinuria, Nephrotic syndrome, Hypoalbuminemia, Microscopic hematuria |
ORPHA:84090 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Cataract, Hyperamylasemia, Band keratopathy, Impaired renal tubular reabsorption of bicarbonate, ... |
OMIM:604278 |
Galloway-Mowat Syndrome 6 |
|
Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalbuminemia, Abnormal re... |
OMIM:618347 |
Cataract 9, Multiple Types |
|
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma |
OMIM:604219 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hyperphosphaturia, Hypercalcemia, Polyuria, Hypercalciuria, Aminoaciduria, Hypophosph... |
OMIM:239200 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Hypercalcemia, Urinary incontinence, Aggressive behavior, Gait ataxia, Compulsive behaviors, Atte... |
ORPHA:476126 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion |
|
Abnormal circulating calcium concentration |
ORPHA:140286 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Increased VL... |
OMIM:267700 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Increased blood urea nitrog... |
ORPHA:251004 |
Galloway-Mowat Syndrome 8 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... |
OMIM:618349 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Decreased circu... |
OMIM:242150 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Erythroderma, Lethal Congenital |
|
Hypoalbuminemia |
OMIM:227090 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14 |
|
Inability to walk, Cataract, Ataxia, Elevated circulating creatine kinase concentration |
OMIM:615350 |
Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Renal sodium wasting, Hyperkalemia, Increased circulating renin level |
ORPHA:556037 |
Diarrhea 13 |
|
Hypoalbuminemia |
OMIM:620357 |
Hypoadrenocorticism, Familial |
|
Hyponatremia, Hyperkalemia |
OMIM:240200 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Renal salt wasting |
OMIM:264350 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hyponatremia, Cataract |
OMIM:620157 |
Liver Disease, Severe Congenital |
|
Biliary hyperplasia, Hypocalcemia, Elevated hepatic iron concentration, Pancreatic hypoplasia, He... |
OMIM:619991 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia |
ORPHA:88643 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level |
OMIM:171420 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1 |
|
Broad-based gait, Cataract, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Cerebella... |
OMIM:224050 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... |
OMIM:616000 |
Hyperferritinemia With Or Without Cataract |
|
Increased circulating ferritin concentration, Nuclear cataract, Pulverulent cataract |
OMIM:600886 |
Cataract-Nephropathy-Encephalopathy Syndrome |
|
Renal tubular dysfunction, Cataract |
ORPHA:1380 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Decreased serum iron |
ORPHA:391372 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Renal phosphate wasting, Hypercalcemia, Hypophosphatemia |
OMIM:612089 |
Familial Hypoaldosteronism |
|
Hyponatremia, Renal salt wasting, Decreased urinary potassium, Hyperkalemia, Proximal renal tubul... |
ORPHA:427 |
Pellagra-Like Syndrome |
|
Cataract, Ataxia |
OMIM:260650 |
Alg8-Cdg |
|
Hyponatremia, Cataract, Ataxia |
ORPHA:79325 |
Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Renal sodium wasting, Hyperkalemia, Increased circulating renin level |
ORPHA:556030 |
Familial Dysautonomia |
|
Hyponatremia, Renal insufficiency, Corneal opacity, Ataxia, Abnormal pupil morphology, Corneal er... |
ORPHA:1764 |
2P21 Microdeletion Syndrome |
|
Nephrolithiasis, Hypocalcemia, Cystinuria |
ORPHA:163693 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hepatomegaly, Microvesicular hepatic steatosis, Cirrhosis, Elevated hepatic iron concentration |
OMIM:300868 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:177735 |
Infant Botulism |
|
Hyponatremia, Anorexia, Keratoconjunctivitis sicca, Dysphagia, Mydriasis |
ORPHA:178478 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Hypercalcemia, Anorexia, Hyperkalemia, Hyperuricemia, Lethargy |
ORPHA:199299 |
Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbilirubinemia, Int... |
OMIM:617093 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Proteinuria, Polyuria, Renal salt wasting, Hypomagnesemia, Chronic kidney disease, ... |
OMIM:613845 |
Dominant Beta-Thalassemia |
|
Hepatocellular carcinoma, Hypersplenism, Splenomegaly, Jaundice, Chronic hepatitis, Hepatosplenom... |
ORPHA:231226 |
Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH administration |
OMIM:603233 |
Cataract 11, Multiple Types |
|
Cataract, Developmental cataract |
OMIM:610623 |
Maternally-Inherited Diabetes And Deafness |
|
Renal insufficiency, Cataract, Proteinuria, Ataxia, Abnormal circulating lipid concentration |
ORPHA:225 |
Vitamin D-Dependent Rickets, Type 3 |
|
Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cataract, Anorexia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:175500 |
Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH administratio... |
ORPHA:94090 |
Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Abnormality of the pancreas, Splenomegaly, Jaundice, Cholestasis, Increased serum i... |
OMIM:222470 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperactivit... |
ORPHA:247585 |
Hereditary Coproporphyria |
|
Hyponatremia, Dark urine, Abnormal circulating porphyrin concentration, Porphyrinuria, Increased ... |
ORPHA:79273 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Cataract, Ataxia, Elevated circulating phytanic acid concentration, Increased circulating very lo... |
OMIM:614307 |
Familial Hypocalciuric Hypercalcemia |
|
Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Parathormone-independent increased renal ... |
ORPHA:405 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Ataxia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Renal insufficiency, Salt craving, Hypercalcemia, Anorexia, Renal salt wasting, Dec... |
ORPHA:95409 |
Genetic Recurrent Myoglobinuria |
|
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hyperka... |
ORPHA:99845 |
Dahlberg-Borer-Newcomer Syndrome |
|
Nephropathy, Renal insufficiency, Cataract, Hypocalcemia |
ORPHA:1563 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Renal insufficiency, Chronic kidney disease, Hyperammonemia, Hypoalbuminemia, Diffi... |
ORPHA:1667 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration |
OMIM:619658 |
Pseudohypoparathyroidism, Type Ic |
|
Cataract, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH administration,... |
OMIM:612462 |
Infantile Myofibromatosis |
|
Hypercalcemia |
ORPHA:2591 |
Snakebite Envenomation |
|
Hyponatremia, Pseudobulbar paralysis, Acute kidney injury, Neuromuscular dysphagia |
ORPHA:449285 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Hyperkalemia, Renal salt wasting |
OMIM:614736 |
Senior-Loken Syndrome |
|
Cataract, Ataxia, Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophthisis |
ORPHA:3156 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
Alg6-Cdg |
|
Hypoalbuminemia, Decreased LDL cholesterol concentration, Ataxia |
ORPHA:79320 |
Cholera |
|
Hyponatremia, Abnormality of renal excretion, Abnormal blood ion concentration, Hypokalemia, Hypo... |
ORPHA:173 |
Beta-Thalassemia Major |
|
Hepatomegaly, Hepatocellular carcinoma, Hypersplenism, Splenomegaly, Jaundice, Hepatosplenomegaly... |
ORPHA:231214 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Cataract, Ataxia |
ORPHA:3233 |
Reni Syndrome |
|
Diffuse mesangial sclerosis, Hypertriglyceridemia, Ataxia, Proteinuria, Stage 5 chronic kidney di... |
OMIM:617575 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine leve... |
ORPHA:276621 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract |
OMIM:254000 |
Leber Congenital Amaurosis 1 |
|
Keratoconus, Cataract, Hyperthreoninuria, Eye poking, Hyperthreoninemia |
OMIM:204000 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Renal insufficiency, Elevated circulating C-reactive protein concentration, Hypoalb... |
ORPHA:247353 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine leve... |
ORPHA:29072 |
Thymic Neuroendocrine Tumor |
|
Calcium nephrolithiasis, Hypercalcemia |
ORPHA:97289 |
Nephrotic Syndrome, Type 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Hyp... |
OMIM:256300 |
Progressive Familial Intrahepatic Cholestasis |
|
Hypocalcemia |
ORPHA:172 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... |
OMIM:617319 |
Cardiomyopathy, Dilated, 1Ii |
|
Cataract, Elevated circulating creatine kinase concentration |
OMIM:615184 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
|
Cataract, Elevated circulating creatine kinase concentration |
OMIM:615352 |
Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Addictive alcohol use, Elevated circulating C-reactive protein concentration |
ORPHA:1930 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentration, Hypoalb... |
OMIM:603553 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Minimal change glome... |
ORPHA:567548 |
Chylomicron Retention Disease |
|
Hypotriglyceridemia, Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia |
OMIM:246700 |
Cataract 47 |
|
Microcornea, Cataract, Glycosuria |
OMIM:612018 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Decreased serum iron |
OMIM:616959 |
Usher Syndrome Type 3 |
|
Cataract, Ataxia, Astigmatism, Iris hypopigmentation |
ORPHA:231183 |
Nephrotic Syndrome, Type 8 |
|
Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,... |
OMIM:615244 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Ketonuria, Increased... |
ORPHA:247598 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia |
ORPHA:91354 |
Paget Disease Of Bone 2, Early-Onset |
|
Hydroxyprolinuria, Hypercalcemia |
OMIM:602080 |
Iris Pigment Layer, Cleavage Of |
|
Cataract |
OMIM:147610 |
Colchicine Poisoning |
|
Hyponatremia, Renal insufficiency, Abnormal blood ion concentration, Oliguria, Hypophosphatemia, ... |
ORPHA:31824 |
Alpha-Heavy Chain Disease |
|
Hypocalcemia |
ORPHA:100025 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... |
ORPHA:103910 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia |
OMIM:612526 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Hyperkalemia |
ORPHA:199296 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Renal salt wasting, Increased urin... |
OMIM:613090 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Polyuria, Renal salt wasting, ... |
OMIM:601678 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Chronic... |
ORPHA:656 |
Galactose Mutarotase Deficiency |
|
Cataract, Hypergalactosemia |
ORPHA:570422 |
Hypotonia-Cystinuria Syndrome |
|
Polyphagia, Nephrolithiasis, Cystinuria, Hypocalcemia, Cystine crystalluria |
OMIM:606407 |
Congenital Lethal Erythroderma |
|
Hypoalbuminemia |
ORPHA:1954 |
Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... |
OMIM:616730 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:171876 |
Cataract 50 With Or Without Glaucoma |
|
Cataract, Persistent pupillary membrane |
OMIM:620253 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... |
OMIM:602522 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin |
OMIM:618528 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Polyuria, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
OMIM:618183 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal insufficiency, Hypercalcemia, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypophosphatemi... |
ORPHA:99880 |
Hartsfield Syndrome |
|
Micropenis, Hypernatremia, Hypospadias |
OMIM:615465 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypertriglyceridemia, Hypercalcemia, Hypercalciuria, Renal cyst, Nephrocalcinosis, Astigmatism, C... |
ORPHA:369837 |
Legionnaires Disease |
|
Hyponatremia, Renal insufficiency, Ataxia, Proteinuria, Anorexia, Hematuria |
ORPHA:549 |
Immunodeficiency 82 With Systemic Inflammation |
|
Hypernatremia, Hypoalbuminemia, Elevated circulating C-reactive protein concentration, Anorexia |
OMIM:619381 |
Parathyroid Carcinoma |
|
Renal insufficiency, Hypercalcemia, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypophosphatemi... |
ORPHA:143 |
Aica-Ribosuria Due To Atic Deficiency |
|
Hyponatremia, Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level |
OMIM:608688 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Decreased serum zinc, Hepatic fib... |
ORPHA:541423 |
Addison Disease |
|
Hyponatremia, Salt craving, Hypercalcemia, Anorexia, Renal salt wasting, Decreased urinary potass... |
ORPHA:85138 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:214700 |
Cystinosis, Nephropathic |
|
Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri... |
OMIM:219800 |
Alg1-Cdg |
|
Nephrotic syndrome, Renal insufficiency, Hypoalbuminemia |
ORPHA:79327 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Hematuria, Cataract, Iris coloboma |
OMIM:120433 |
Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Cataract, Hyperphosphatemia, Conjunctivitis, Hypocalcemia, Low urinary cyclic AMP res... |
ORPHA:94089 |
Multiple Myeloma |
|
Hypercalcemia, Elevated circulating creatinine concentration, Nephrotic syndrome, Hyperproteinemi... |
ORPHA:29073 |
Refractory Celiac Disease |
|
Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia |
ORPHA:398063 |
Syndromic Diarrhea |
|
Hepatomegaly, Splenomegaly, Abnormality of the liver, Hepatic fibrosis, Abnormality of iron homeo... |
ORPHA:84064 |
Rabin-Pappas Syndrome |
|
Hyponatremia, Cataract |
OMIM:620155 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Abnormal circulating ceruloplasmin concentration, Abnormal circulating copper concentration |
OMIM:620306 |
Autoinflammation With Infantile Enterocolitis |
|
Increased circulating ferritin concentration, Hypoalbuminemia, Elevated circulating C-reactive pr... |
OMIM:616050 |
Coats Disease |
|
Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology |
ORPHA:190 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures |
ORPHA:93324 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
Fibrous Dysplasia Of Bone |
|
Antalgic gait, Hypercalcemia, Difficulty walking, Hypophosphatemia |
ORPHA:249 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Decreased serum iron, Decreased serum zinc, Hypoalbuminemia, Decreased circulating carnitine conc... |
ORPHA:89842 |
Shigellosis |
|
Hyponatremia, Anorexia, Hemolytic-uremic syndrome, Urethritis, Abnormal blood ion concentration, ... |
ORPHA:810 |
Immunodeficiency 27A |
|
Hypoalbuminemia, Anorexia |
OMIM:209950 |
Monosomy 13Q34 |
|
Hypercalcemia |
ORPHA:96168 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Nephrolithiasis, Gait disturbance, Hypocalcemia, Hypophosphatemia |
ORPHA:93160 |
Porphyria Variegata |
|
Hyponatremia, Neurogenic bladder, Abnormal circulating porphyrin concentration, Chronic kidney di... |
ORPHA:79473 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Renal insufficiency, Proteinuria, Unsteady gait, Gait ataxia, Nephrotic syndrome, Focal segmental... |
OMIM:254900 |
Whipple Disease |
|
Hyponatremia, Polydipsia, Ataxia, Anorexia |
ORPHA:3452 |
Necrotizing Enterocolitis |
|
Hyponatremia, Lethargy |
ORPHA:391673 |
Immunodeficiency 47 |
|
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Decreased circulating copper conce... |
OMIM:300972 |
Adrenal Hypoplasia, Congenital |
|
Hyponatremia, Renal salt wasting |
OMIM:300200 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hyperphosphaturia, Hypocalcemia, Hypophosphatemia |
ORPHA:89937 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Microcornea, Cataract, Aniridia |
OMIM:106230 |
Peroxisome Biogenesis Disorder 9B |
|
Cataract, Elevated circulating phytanic acid concentration, Ataxia |
OMIM:614879 |
Immunodeficiency 43 |
|
Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia |
OMIM:241600 |
Acute Intermittent Porphyria |
|
Hyponatremia, Restlessness, Renal insufficiency, Dark urine, Urinary incontinence, Dysuria, Porph... |
ORPHA:79276 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Aplasia/Hypoplasia of the lens, Hypoplasia of penis, Cataract, Hypospadias |
ORPHA:1381 |
Muscle-Eye-Brain Disease |
|
Cataract, Gait disturbance, Elevated circulating creatine kinase concentration |
ORPHA:588 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Hypocalcemia, Difficulty walking, Hypophosphatemia |
OMIM:600081 |
Familial Glucocorticoid Deficiency |
|
Hyponatremia, Anorexia, Renal salt wasting, Hyperkalemia, Hypernatriuria |
ORPHA:361 |
Sanjad-Sakati Syndrome |
|
Hypoplasia of penis, Corneal opacity, Hyperphosphatemia, Astigmatism, Hypocalcemia |
ORPHA:2323 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Splenomegaly, Hepatomegaly, Decreased serum zinc |
OMIM:201100 |
Bartter Syndrome Type 4 |
|
Hyponatremia, Renal salt wasting, Increased urinary potassium, Impaired renal concentrating abili... |
ORPHA:89938 |
Pseudopseudohypoparathyroidism |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:79445 |
Oncogenic Osteomalacia |
|
Hyperphosphaturia, Renal phosphate wasting, Gait disturbance, Hypocalcemia, Hypophosphatemia |
ORPHA:352540 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hypoammonemia, Abnormal pupil morphology, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Le... |
ORPHA:534 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Generalized aminoaciduria, Hypocalcemia, Difficulty walking, Hypophosphatemia, Hypocalcemic seizures |
OMIM:264700 |
Galactosemia I |
|
Cataract, Increased level of galactitol in plasma, Aminoaciduria, Albuminuria, Galactosuria, Hype... |
OMIM:230400 |
Gracile Bone Dysplasia |
|
Aniridia, Micropenis, Hypocalcemia |
OMIM:602361 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Hypospadias, Renal salt wasting, Hyperkalemia, Increased circulating renin level, P... |
ORPHA:90791 |
Aniridia 2 |
|
Aniridia, Iris coloboma, Cataract, Lens subluxation |
OMIM:617141 |
Multiple Endocrine Neoplasia Type 2 |
|
Elevated urinary catecholamine level, Hypercalcemia, Prominent corneal nerve fibers, Elevated uri... |
ORPHA:653 |
Leishmaniasis |
|
Hypoalbuminemia, Anorexia |
ORPHA:507 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Hypoalbuminemia |
OMIM:619013 |
Autosomal Dominant Keratitis |
|
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... |
ORPHA:2334 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Waddling gait, Cataract, Abnormal circulating creatine kinase concentration, Difficulty walking, ... |
ORPHA:369840 |
Galloway-Mowat Syndrome 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Cataract, Ataxia, Proteinuria, Hypoplasia of th... |
OMIM:251300 |
Eosinophilic Gastroenteritis |
|
Hypoalbuminemia, Elevated circulating C-reactive protein concentration, Dysphagia |
ORPHA:2070 |
Williams Syndrome |
|
Hypoplasia of penis, Elevated circulating creatine kinase concentration, Dysmetria, Nephrocalcino... |
ORPHA:904 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia |
ORPHA:83601 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Microcornea, Cataract |
OMIM:619082 |
Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia, Anorexia |
ORPHA:2494 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyponatremia, Hypospadias, Scrotal hypospadias, Hyperkalemia, Perineal hypospadias, Microphallus,... |
OMIM:201810 |
Mirage Syndrome |
|
Hyponatremia, Hyperkalemia, Microphallus, Hypospadias |
OMIM:617053 |
Transketolase Deficiency |
|
Increased level of ribose in urine, Cataract, Renal cyst, Self-injurious behavior, Conjunctivitis... |
ORPHA:488618 |
Chédiak-Higashi Syndrome |
|
Hyponatremia, Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentration, Inabili... |
ORPHA:167 |
Ring Chromosome 10 Syndrome |
|
Hypocalcemia |
ORPHA:1438 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Cataract, Hyperphosphatemia, Conjunctivitis, Hypocalcemia, Low urinary cyclic AMP res... |
ORPHA:79444 |
Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... |
OMIM:225200 |
Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Ectopia lentis |
ORPHA:1068 |
Gyrate Atrophy Of Choroid And Retina |
|
Hyperornithinemia, Aminoaciduria, Cataract, Subcapsular cataract |
ORPHA:414 |
Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Broad-based gait, Ataxia, Decreased LDL cholesterol conc... |
ORPHA:14 |
Cataract 10, Multiple Types |
|
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract |
OMIM:600881 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Decreased circulating ceruloplasmin concentration, Hypourice... |
OMIM:277900 |
Liver Failure, Infantile, Transient |
|
3-hydroxydicarboxylic aciduria, Dicarboxylic aciduria, Lacticaciduria, Hypoalbuminemia, Hyperbili... |
OMIM:613070 |
Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
ORPHA:90362 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hypoalbuminemia, Elevated circulating C-reactive protein concentration |
OMIM:308240 |
Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia, Developmental cataract |
OMIM:127000 |
Refractory Anemia With Excess Blasts |
|
Abnormal circulating protein concentration, Abnormal circulating albumin concentration |
ORPHA:86839 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Ataxia, Elevated circulating creatine kinase concentration, Hyperammonemia |
OMIM:610505 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Proximal tubulopathy, Hypoalbuminemia, Renal cyst |
OMIM:602579 |
Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ... |
ORPHA:26793 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Micropenis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:241410 |
Intermediate Osteopetrosis |
|
Hypocalcemia |
ORPHA:210110 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Inappropriate laughter, Ataxia, Hypocalcemia, Difficulty walking |
OMIM:618476 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Cataract, Band keratopathy, Choreoathetosis, Hyperphosphatemia, Conjunctivitis, Hypoc... |
ORPHA:79443 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati... |
ORPHA:88618 |
Avian Influenza |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:454836 |
Panhypophysitis |
|
Hyponatremia, Polydipsia, Hyposthenuria |
ORPHA:95513 |
Alg12-Cdg |
|
Hyponatremia, Hypospadias, Hypoalbuminemia, Hypocholesterolemia, Micropenis |
ORPHA:79324 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Elevated circulating creatinine concentration, Hypoalbuminemia |
OMIM:608104 |
Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Generalized aminoaciduria, Hypocalcemia, Difficulty walking, Hypophosphatemia, Hypocalcemic seizures |
ORPHA:289157 |
Myopia 28, Autosomal Recessive |
|
Cataract |
OMIM:619781 |
Pseudohypoparathyroidism, Type Ia |
|
Hypocalcemic tetany, Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Ca... |
OMIM:103580 |
Mucopolysaccharidosis-Plus Syndrome |
|
Proteinuria, Inability to walk, Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalbum... |
OMIM:617303 |
X-Linked Agammaglobulinemia |
|
Conjunctivitis, Hypocalcemia |
ORPHA:47 |
Pituitary Apoplexy |
|
Hyponatremia, Mydriasis |
ORPHA:95613 |
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
|
Neurogenic bladder, Cataract, Dysmetria, Dysphagia |
OMIM:619780 |
Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia |
ORPHA:86816 |
Mpi-Cdg |
|
Hypoalbuminemia |
ORPHA:79319 |
Vipoma |
|
Hypokalemia, Hypercalcemia, Anorexia |
ORPHA:97282 |
Kenny-Caffey Syndrome, Type 1 |
|
Hypocalcemia, Hypomagnesemia |
OMIM:244460 |
Albers-Schönberg Osteopetrosis |
|
Hypocalcemia |
ORPHA:53 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Cataract, Ataxia, Conjugated hyperbilirubinemia, Inability to walk, Hyperkalemia, Nuclear cataract |
OMIM:608885 |
Slc39A8-Cdg |
|
Hypomanganesemia, Abnormality of the liver, Abnormal blood zinc concentration |
ORPHA:468699 |
Multiple Endocrine Neoplasia, Type I |
|
Hypercalcemia |
OMIM:131100 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, 4-hydroxyphenylacetic aciduria, Conjugated hyperbilirubinemia, 4-Hydroxyphenylp... |
OMIM:617156 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Lethargy, Micropenis, Hypospadias, Hypocalcemia |
OMIM:607143 |
Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia, Elevated cir... |
ORPHA:158061 |
Ppoma |
|
Hypercalcemia, Anorexia |
ORPHA:97278 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Anuria, Elevated circulating creatinine concentration, Hemoglobinuria, Hypokalemia,... |
ORPHA:90038 |
Isolated Aniridia |
|
Aniridia, Cataract, Peters anomaly |
ORPHA:250923 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Hematuria, Hypoalbuminemia |
OMIM:617021 |
Mitochondrial Trifunctional Protein Deficiency |
|
Lethargy, Tip-toe gait, Hypocalcemia |
ORPHA:746 |
Williams-Beuren Syndrome |
|
Renal insufficiency, Hypercalcemia, Urethral stenosis, Blue irides, Renal hypoplasia, Hypercalciu... |
OMIM:194050 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Abnormal urine potassium concentration, Hypernatr... |
ORPHA:168558 |
Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Abnormal circulating serine concentration,... |
ORPHA:470 |
Immunodeficiency 32B |
|
Hypoalbuminemia |
OMIM:226990 |
Adenohypophysitis |
|
Hyponatremia, Hyposthenuria |
ORPHA:95512 |
Japanese Encephalitis |
|
Hyponatremia, Choreoathetosis, Anorexia |
ORPHA:79139 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Abnormal urine potassium concentration, Hypernatr... |
ORPHA:289548 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hyponatremia, Hypokalemia, Ataxia |
OMIM:618426 |
Ethylene Glycol Poisoning |
|
Renal insufficiency, Ataxia, Hyperkalemia, Renal tubular epithelial necrosis, Renal tubular dysfu... |
ORPHA:31826 |
Somatostatinoma |
|
Hypercalcemia, Anorexia |
ORPHA:97283 |
Timothy Syndrome |
|
Hypocalcemia |
OMIM:601005 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Ataxia, Proteinuria, Renal cyst, Dysmetria, Nephrotic syndrome, Proximal tubulopathy, Hypoalbumin... |
OMIM:212065 |
Pearson Syndrome |
|
Renal insufficiency, Cataract, Ataxia, Proteinuria, Hypomagnesemia, Lacticaciduria, Dysphagia, Re... |
ORPHA:699 |
Alport Syndrome 2, Autosomal Recessive |
|
Renal insufficiency, Cataract, Proteinuria, Corneal erosion, Stage 5 chronic kidney disease, Hema... |
OMIM:203780 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Hypoalbuminemia |
OMIM:614441 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Abnormal renal tubular resorption, Hypercalciuria, Hyperprostaglandinuria, Nephrocalcinosis, Hypo... |
ORPHA:73224 |
Xfe Progeroid Syndrome |
|
Renal insufficiency, Hypoalbuminemia, Corneal scarring, Proteinuria |
OMIM:610965 |
Hereditary Fructose Intolerance |
|
Renal insufficiency, Cataract, Chronic kidney disease, Hypermagnesemia, Hyperuricemia, Hypophosph... |
ORPHA:469 |
Grfoma |
|
Hypercalcemia, Anorexia |
ORPHA:97261 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia, Abnormal ren... |
ORPHA:540 |
Autosomal Dominant Hypocalcemia |
|
Hypercalciuria, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypermagnesiuria |
ORPHA:428 |
Aicardi-Goutieres Syndrome 9 |
|
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Hypoalbuminemia, Glomerular scl... |
OMIM:619487 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Hyperkalemia |
ORPHA:90790 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hydronephrosis, Micropenis, Hypoproteinemia, Hypocalcemia |
OMIM:235255 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Hyperactivity, Ectopic kidney, Horseshoe kidney, Hypoalbuminemia, Vesicoureteral reflux, Hydronep... |
OMIM:235510 |
Multiple Endocrine Neoplasia Type 1 |
|
Hypercalcemia, Anorexia, Nephrolithiasis, Hypercalciuria, Lethargy |
ORPHA:652 |
Glucagonoma |
|
Hypercalcemia, Anorexia |
ORPHA:97280 |
Bacterial Toxic-Shock Syndrome |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Glomerulonephritis, Elev... |
ORPHA:36234 |
Sarcoidosis |
|
Renal insufficiency, Cataract, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, ... |
ORPHA:797 |
Aniridia 3 |
|
Aniridia, Cataract |
OMIM:617142 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
High nonceruloplasmin-bound serum copper |
ORPHA:457351 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Minimal change glomerulonephritis, Hyperlipidemia, Chronic kidney disease, Stage 5 chronic kidney... |
ORPHA:567546 |
Zollinger-Ellison Syndrome |
|
Increased urinary cortisol level, Hypercalcemia |
ORPHA:913 |
Multiple Endocrine Neoplasia Type 4 |
|
Increased urinary cortisol level, Renal angiomyolipoma, Hypercalcemia |
ORPHA:276152 |
Norrie Disease |
|
Cataract, Corneal opacity, Aggressive behavior, Leukocoria, Hypoplasia of the iris, Buphthalmos, ... |
OMIM:310600 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Abnormal blood ion concentration, Tubulointerstitial nephritis, Nephrotic syndrome, Membranous ne... |
ORPHA:37042 |
Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Hyponatremia, Patent urachus |
OMIM:618252 |
Al Amyloidosis |
|
Renal insufficiency, Increased circulating NT-proBNP concentration, Proteinuria, Nephrotic syndro... |
ORPHA:85443 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Anuria, Hyperkalemia, Oliguria, Hypocalcemia, Acute kidney injury, Nephrotic range ... |
ORPHA:544482 |
Sotos Syndrome |
|
Ureteral duplication, Renal insufficiency, Cataract, Hypospadias, Hypercalcemia, Aggressive behav... |
ORPHA:821 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoproteinemia, Hypoalbuminemia |
OMIM:226300 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Renal salt wasting, Hyperkalemia, Abnormal urine potassium co... |
ORPHA:275761 |
Hepatoportal Sclerosis |
|
Hypoalbuminemia, Hyperbilirubinemia |
ORPHA:64743 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Proteinuria, Heparan sulfate excretion in urine, Inability to walk, Nephrotic syndrome, Heavy pro... |
ORPHA:505248 |
Aniridia And Absent Patella |
|
Aniridia, Cataract |
OMIM:106220 |
Dent Disease |
|
Renal insufficiency, Cataract, Renal hypophosphatemia, Elevated circulating creatine kinase conce... |
ORPHA:1652 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Aggressive behavior, Hyperlipidemia, Hyperkalemia, Self-injurious behavior, Enuresi... |
ORPHA:293987 |
Holoprosencephaly |
|
Hyponatremia, Hypoplasia of penis, Proteinuria, Iris coloboma |
ORPHA:2162 |
Velocardiofacial Syndrome |
|
Posterior embryotoxon, Hypocalcemia, Aggressive behavior |
OMIM:192430 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Generalized aminoaciduria,... |
OMIM:251880 |
Cataract 5, Multiple Types |
|
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
Juvenile Polyposis Syndrome |
|
Hypokalemia, Hypoalbuminemia |
OMIM:174900 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hydronephrosis, Micropenis, Hypoproteinemia, Hypocalcemia |
ORPHA:1655 |
Sheehan Syndrome |
|
Hyponatremia, Hyposthenuria |
ORPHA:91355 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hypoalbuminemia |
ORPHA:367 |
Vitreoretinal Degeneration, Snowflake Type |
|
Cataract, Corneal guttata |
OMIM:193230 |
Celiac Disease, Susceptibility To, 1 |
|
Ataxia, Hypocalcemia |
OMIM:212750 |
Exercise-Induced Malignant Hyperthermia |
|
Ataxia, Elevated circulating creatine kinase concentration, Hyperkalemia, Oliguria, Hyperphosphat... |
ORPHA:466650 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Renal insufficiency, Unilateral renal agenesis, Hypocalcemia, Polycystic kidney dysplasia, Vesico... |
ORPHA:2237 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Renal insufficiency, Oliguria, Stage 5 chronic kidney disease, Increased serum bile... |
ORPHA:731 |
Galloway-Mowat Syndrome 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp... |
OMIM:617729 |
Congenital Enterovirus Infection |
|
Hypoalbuminemia, Hyperammonemia |
ORPHA:292 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Hyperkalemia |
ORPHA:293978 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hypocalcemia |
OMIM:259700 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hyperalaninemia, 3-Methylglutaconic aciduria, Hypoalbuminemia |
OMIM:618329 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Decreased serum iron, Jaundice, Unconjugated hyperbilirubinemia, Increased blood urea nitrogen, R... |
ORPHA:447 |
Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Renal insufficiency, Cataract, Proteinuria, Microscopic hematuria, Stage 5 chronic kidney disease... |
OMIM:308940 |
Marburg Hemorrhagic Fever |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Anorexi... |
ORPHA:99826 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Aminoaciduria, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:619055 |
Cataract 20, Multiple Types |
|
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract |
OMIM:116100 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hypocalcemia, Hyperbilirubinemia, Mydriasis |
OMIM:259720 |
Gitelman Syndrome |
|
Salt craving, Proteinuria, Urinary incontinence, Decreased urinary potassium, Hypermagnesemia, Tu... |
ORPHA:358 |
Xeroderma Pigmentosum, Complementation Group D |
|
Cataract, Ataxia, Keratitis, Choreoathetosis, Keratoconjunctivitis sicca, Conjunctivitis, Corneal... |
OMIM:278730 |
Double Outlet Right Ventricle |
|
Hypocalcemia |
ORPHA:3426 |
Smith-Lemli-Opitz Syndrome |
|
Ureteropelvic junction obstruction, Hyperactivity, Cataract, Hypospadias, Unilateral renal agenes... |
OMIM:270400 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Cataract, Band keratopathy, Bicarbonaturia, Bicarbonate-wasting renal tubular ... |
ORPHA:47159 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Hypoalbuminemia, Corneal opacity |
ORPHA:79396 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Nail-biting, Broad-based gait, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious beha... |
OMIM:620330 |
Igg4-Related Thyroid Disease |
|
Hypocalcemia, Dysphagia |
ORPHA:64744 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Renal salt wasting, Long penis, Hyperkalemia, Elevated urinary epinephrine level, H... |
ORPHA:90794 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster... |
OMIM:221900 |
Insulin-Resistance Syndrome Type B |
|
Proteinuria, Abnormal circulating fatty-acid concentration, Hypotriglyceridemia, Hypoalbuminemia,... |
ORPHA:2298 |
Amoebiasis Due To Entamoeba Histolytica |
|
Hypoalbuminemia |
ORPHA:67 |
22Q11.2 Deletion Syndrome |
|
Cataract, Hypospadias, Renal hypoplasia, Multiple renal cysts, Hypocalcemia, Attention deficit hy... |
ORPHA:567 |
Primary Biliary Cholangitis |
|
Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia |
ORPHA:186 |
Pierson Syndrome |
|
Diffuse mesangial sclerosis, Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Proteinuri... |
OMIM:609049 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hypospadias, Hypocalcemia, Hyperbilirubinemia, Micropenis, Hydronephrosis |
ORPHA:163979 |
Aniridia 1 |
|
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... |
OMIM:106210 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures, Developmental cataract |
ORPHA:93325 |
Craniofacioskeletal Syndrome |
|
Hydronephrosis, Hypospadias, Hypocalcemia |
OMIM:300712 |
Occipital Horn Syndrome |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration |
OMIM:304150 |
Secondary Intestinal Lymphangiectasia |
|
Reduced circulating transferrin concentration, Decreased prealbumin level, Hypoalbuminemia, Hypoc... |
ORPHA:90363 |
Osteopetrosis With Renal Tubular Acidosis |
|
Elevated circulating creatine kinase concentration, Proximal renal tubular acidosis, Nephrolithia... |
ORPHA:2785 |
Autosomal Dominant Optic Atrophy And Cataract |
|
Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Ataxia, Cerulean cataract, ... |
ORPHA:67036 |
Isotretinoin-Like Syndrome |
|
Hypocalcemia |
ORPHA:2306 |
Cartilage-Hair Hypoplasia |
|
Mucopolysacchariduria, Hypocalcemia |
ORPHA:175 |
Hennekam Syndrome |
|
Hypocalcemia, Horseshoe kidney, Ectopic kidney |
ORPHA:2136 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hyponatremia, Hypospadias, Vesicovaginal fistula, Hyperkalemia, Horseshoe kidney, Chordee, Microp... |
OMIM:201750 |
Persistent Hyperplastic Primary Vitreous |
|
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... |
ORPHA:91495 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia |
OMIM:613658 |
Cranioectodermal Dysplasia 1 |
|
Renal magnesium wasting, Chronic kidney disease, Stage 5 chronic kidney disease, Tubulointerstiti... |
OMIM:218330 |
Acute Transverse Myelitis |
|
Decreased circulating copper concentration |
ORPHA:139417 |
Digeorge Syndrome |
|
Renal insufficiency, Sclerocornea, Unilateral renal agenesis, Hypocalcemia, Attention deficit hyp... |
OMIM:188400 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Broad-based gait, Impulsivity, Unilateral renal agenesis, Bruxism, Dysphagia, Urinary urgency, Ti... |
OMIM:619503 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Decreased serum iron |
ORPHA:438213 |
Primary Sclerosing Cholangitis |
|
Renal insufficiency, Hypoalbuminemia |
ORPHA:171 |
Juvenile Polyposis Of Infancy |
|
Hypoalbuminemia |
ORPHA:79076 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalb... |
OMIM:614748 |
Charge Syndrome |
|
Cataract, Self-mutilation, Renal hypoplasia, Horseshoe kidney, Hydronephrosis, Hypocalcemia, Dysp... |
OMIM:214800 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:667 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Decreased plasma total carnitine, Decreased serum zinc, Abnormal circulating selenium concentration |
ORPHA:79408 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Hyperphosphaturia, Abnormality of renal excretion, Renal hypophosphatemia, Renal phosphate wastin... |
ORPHA:289176 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Dark urine, Renal insufficiency, Conjugated hyperbilirubinemia, Increased circulating ferritin co... |
OMIM:619534 |
Wrinkly Skin Syndrome |
|
High nonceruloplasmin-bound serum copper |
ORPHA:2834 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Hypocalcemic tetany |
ORPHA:83471 |
Johanson-Blizzard Syndrome |
|
Hypospadias, Increased VLDL cholesterol concentration, Urethrovaginal fistula, Conjugated hyperbi... |
OMIM:243800 |
Pmm2-Cdg |
|
Cataract, Ataxia, Proteinuria, Reduced thyroxin-binding globulin, Nephrotic syndrome, Hypoalbumin... |
ORPHA:79318 |
Tropical Endomyocardial Fibrosis |
|
Hypoalbuminemia |
ORPHA:75565 |