| Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hyperkalemia |
OMIM:614491 |
| Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hyperkalemia |
OMIM:614495 |
| Erythroderma, Lethal Congenital |
|
Failure to thrive, Hypoalbuminemia |
OMIM:227090 |
| Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Hyperkalemia |
OMIM:614496 |
| Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Hyperkalemia, Decreased circulating renin level |
OMIM:614492 |
| Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Failure to thrive, Hyperkalemia |
OMIM:143860 |
| Chronic Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbuminemia, Hypernatr... |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbuminemia, Hypernatr... |
ORPHA:529799 |
| Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia, Sensorineural hearing impairment |
ORPHA:3225 |
| Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
| Diarrhea 13 |
|
Failure to thrive, Hypoalbuminemia |
OMIM:620357 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia |
OMIM:615863 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Obesity |
ORPHA:88643 |
| Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased circulating creatine kinase MM isoform, Failure to thrive, Hypoalbuminemia, Hypermethio... |
OMIM:613752 |
| Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... |
OMIM:619868 |
| Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
| Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Decreased motor nerve conduction velocity, Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
| Glucose-Galactose Malabsorption |
|
Failure to thrive, Hypernatremia, Hypercalcemia, Weight loss |
ORPHA:35710 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level, Failure t... |
OMIM:610600 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:300971 |
| Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Failure to thrive, Hypernatremia |
OMIM:125800 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Failure to thrive, Hypernatremia |
OMIM:304800 |
| Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Hypotriglyceridemia, Hypoalbuminemia, Hypocholesterolemi... |
OMIM:246700 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... |
ORPHA:103910 |
| Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
| Congenital Lethal Erythroderma |
|
Failure to thrive, Hypoalbuminemia |
ORPHA:1954 |
| Analbuminemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... |
OMIM:616000 |
| Coenzyme Q10 Deficiency, Primary, 3 |
|
Hypoalbuminemia |
OMIM:614652 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Failure to thrive, Hypernatremia, Hypoalbuminemia |
OMIM:615508 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hyperglutaminemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hypoornithinemia, Hype... |
OMIM:615751 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Failure to thrive |
OMIM:214700 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level |
OMIM:203400 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620126 |
| Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia, EEG with focal epileptiform discharges, Abnormal autonomic nervous system physiolog... |
ORPHA:163921 |
| Nephrotic Syndrome, Type 7 |
|
Hypoalbuminemia |
OMIM:615008 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620125 |
| Galloway-Mowat Syndrome 8 |
|
Hypoalbuminemia, Hearing impairment |
OMIM:618349 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
| Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level, Failure t... |
ORPHA:556037 |
| Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia |
ORPHA:54370 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia |
OMIM:616949 |
| Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
| Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia... |
ORPHA:94093 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Sensorineural hearing impairment, Hypochloremia, Hypokalemia, Fai... |
OMIM:613090 |
| Nephrogenic Diabetes Insipidus |
|
Failure to thrive, Hypernatremia |
ORPHA:223 |
| Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
| Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level, Failure t... |
ORPHA:556030 |
| Alg6-Cdg |
|
Failure to thrive, Hypoalbuminemia, Decreased LDL cholesterol concentration, Low-set ears |
ORPHA:79320 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Se... |
OMIM:242150 |
| Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
| Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
| Central Diabetes Insipidus |
|
Hyponatremia, Failure to thrive, Weight loss |
ORPHA:178029 |
| Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Failure to thrive, Hyperglutamatemia, Hyperammonemia,... |
ORPHA:3008 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level |
OMIM:177735 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... |
OMIM:300539 |
| Webb-Dattani Syndrome |
|
Hypernatremia, Obesity |
OMIM:615926 |
| Autoinflammation With Infantile Enterocolitis |
|
Increased circulating ferritin concentration, Failure to thrive, Hypoalbuminemia, Elevated circul... |
OMIM:616050 |
| Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
| Ravine Syndrome |
|
Failure to thrive, Abnormal auditory evoked potentials, Decreased body weight |
ORPHA:99852 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin |
OMIM:618528 |
| Galloway-Mowat Syndrome 6 |
|
Hypoalbuminemia, Decreased body weight |
OMIM:618347 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hypoalbuminemia, Failure to thrive in infancy |
OMIM:618805 |
| Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Failure to thrive, Hyperkalemia |
OMIM:264350 |
| Hypoadrenocorticism, Familial |
|
Hyponatremia, Hyperkalemia |
OMIM:240200 |
| Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Small for gestational age |
OMIM:256300 |
| Nephrotic Syndrome, Type 8 |
|
Sensorineural hearing impairment, Hypoalbuminemia |
OMIM:615244 |
| Refractory Celiac Disease |
|
Hypomagnesemia, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia |
ORPHA:398063 |
| Congenital Analbuminemia |
|
Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypoalbuminemia, Hy... |
ORPHA:86816 |
| Immunodeficiency 43 |
|
Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia |
OMIM:241600 |
| Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Obesity, Hypoalb... |
ORPHA:247353 |
| Immunodeficiency 27A |
|
Hypoalbuminemia, Weight loss |
OMIM:209950 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Failure to thrive, Hyperkalemia |
OMIM:614736 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
| Alg1-Cdg |
|
Hypoalbuminemia |
ORPHA:79327 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... |
ORPHA:320401 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Failure to thrive in infancy, Hyperkalemia, Weight loss, Increased circulating reni... |
ORPHA:171876 |
| Mpi-Cdg |
|
Failure to thrive, Hypoalbuminemia |
ORPHA:79319 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Small for gestational age, EEG abnormality, Hypoalbuminemia |
OMIM:617021 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Hypoalbuminemia |
OMIM:619013 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Elevated circulating creatinine concentration, Failure to thrive, Hypoalbuminemia, Low-set ears |
OMIM:608104 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hyponatremia, Failure to thrive, Optic nerve hypoplasia, Hearing impairment |
OMIM:620157 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Small for gestational age, Conjugated hyperbilirubinemia, Sensorineural hearing impairment, Hyper... |
OMIM:617093 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... |
ORPHA:247598 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... |
ORPHA:64753 |
| Herpes Simplex Virus Encephalitis |
|
Hyponatremia, EEG abnormality, Elevated circulating C-reactive protein concentration |
ORPHA:1930 |
| Eosinophilic Gastroenteritis |
|
Hypoalbuminemia, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:2070 |
| Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
ORPHA:682 |
| Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level, Failure t... |
ORPHA:427 |
| Leishmaniasis |
|
Hypoalbuminemia, Weight loss |
ORPHA:507 |
| Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia, Weight loss |
ORPHA:2494 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormality |
OMIM:617519 |
| Immunodeficiency 32B |
|
Failure to thrive, Hypoalbuminemia |
OMIM:226990 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati... |
ORPHA:88618 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... |
OMIM:603553 |
| Congenital Isolated Acth Deficiency |
|
Hyponatremia, Hyperkalemia |
ORPHA:199296 |
| Bartter Syndrome Type 4 |
|
Hyponatremia, Small for gestational age, Protruding ear, Hypochloremia, Hypokalemia, Increased ci... |
ORPHA:89938 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Hypomagnesemia, Hyperuricemia, Increased blood urea nitrogen, Failure to thrive |
OMIM:613845 |
| Wolcott-Rallison Syndrome |
|
Hyponatremia, Hyperammonemia, Hypoalbuminemia, Hyperbilirubinemia, Decreased body weight |
ORPHA:1667 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Sensorineural hearing impairment, Hypochloremia, Hypokalemia, Fai... |
OMIM:602522 |
| Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... |
ORPHA:247585 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hypoalbuminemia, Elevated circulating C-reactive protein concentration |
OMIM:308240 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Abnormal circulating porphyrin concentration, Increased erythrocyte protoporphyrin ... |
ORPHA:100924 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials |
OMIM:125250 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia |
ORPHA:91354 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... |
ORPHA:567548 |
| Reni Syndrome |
|
Sensorineural hearing impairment, Hypertriglyceridemia, Hypoalbuminemia |
OMIM:617575 |
| Aica-Ribosuria Due To Atic Deficiency |
|
Hyponatremia, Optic atrophy, Low-set ears |
OMIM:608688 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Low-set ears, Hypomagnesemia |
OMIM:618183 |
| Primary Intestinal Lymphangiectasia |
|
Weight loss, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Hypoproteinemia |
ORPHA:90362 |
| Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Hypoalbuminemia |
OMIM:614441 |
| Hereditary Coproporphyria |
|
Hyponatremia, Abnormal circulating porphyrin concentration, Long hairs growing from helix of pinna |
ORPHA:79273 |
| Abcd Syndrome |
|
Aganglionic megacolon, Abnormal auditory evoked potentials, Large for gestational age, Total inte... |
OMIM:600501 |
| Juvenile Polyposis Syndrome |
|
Hypokalemia, Failure to thrive, Hypoalbuminemia |
OMIM:174900 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Failure to thrive, Hypoalbuminemia |
OMIM:602579 |
| Alg8-Cdg |
|
Hyponatremia, Small for gestational age, Optic atrophy, Low-set ears, Failure to thrive |
ORPHA:79325 |
| Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia, Elevated cir... |
ORPHA:158061 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Elevated circulating C-reactive protein concentration, Weight loss, Hypoalbuminemia, Hypernatremi... |
OMIM:619381 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia |
ORPHA:656 |
| Hartsfield Syndrome |
|
Hypernatremia, Posteriorly rotated ears, Low-set ears |
OMIM:615465 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Sensorineural hearing impairment, Optic atrophy, Hypoalbuminemia, Hyperalaninemia, Failure to thrive |
OMIM:618329 |
| Liver Failure, Infantile, Transient |
|
Hypoalbuminemia, Hyperbilirubinemia |
OMIM:613070 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia, Abnormal autonomic nervous system physiology |
ORPHA:83601 |
| Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Small for gestational age, Hyp... |
OMIM:601678 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating ferritin concentration, Sensorineural hearing impairment, Hypertriglyceride... |
ORPHA:540 |
| Colchicine Poisoning |
|
Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... |
ORPHA:31824 |
| Rabin-Pappas Syndrome |
|
Hyponatremia, Failure to thrive in infancy, Optic nerve hypoplasia, Sensorineural hearing impairm... |
OMIM:620155 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Failure to thrive, Hypoalbuminemia |
ORPHA:367 |
| Xfe Progeroid Syndrome |
|
Cachexia, Optic atrophy, Hypoalbuminemia, Failure to thrive, Hearing impairment |
OMIM:610965 |
| Adrenal Hypoplasia, Congenital |
|
Hyponatremia, Failure to thrive |
OMIM:300200 |
| Snakebite Envenomation |
|
Hyponatremia |
ORPHA:449285 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Failure to thrive, Decreased serum iron, Decreased serum zinc, Hypoalbuminemia, Decreased circula... |
ORPHA:89842 |
| Avian Influenza |
|
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevated circulating C-react... |
ORPHA:454836 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoproteinemia, Hypoalbuminemia |
OMIM:226300 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
| Al Amyloidosis |
|
Increased circulating NT-proBNP concentration, Weight loss, Hypoalbuminemia, Abnormal autonomic n... |
ORPHA:85443 |
| Hepatoportal Sclerosis |
|
Hypoalbuminemia, Hyperbilirubinemia |
ORPHA:64743 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Failure to thrive, Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Hyperbi... |
OMIM:251880 |
| Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Orthostatic hypotension, Hypercalcemia, Hyperkalemia, Weight loss, Hyperuricemia, F... |
ORPHA:199299 |
| Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Failure to thrive, Increased serum prostaglandin E2, Small for gestational age,... |
OMIM:241200 |
| Renal Hypoplasia, Bilateral |
|
Hyponatremia, Failure to thrive, Hyperkalemia, Small for gestational age |
ORPHA:97362 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Small for gestational age, Failure to thrive, Hypoalbuminemia, Elevated circulating creatine kina... |
OMIM:619055 |
| Alg12-Cdg |
|
Hyponatremia, Abnormal pinna morphology, Sensorineural hearing impairment, Hypoalbuminemia, Hypoc... |
ORPHA:79324 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemia, Hyperbiliru... |
OMIM:617156 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... |
OMIM:601455 |
| Congenital Enterovirus Infection |
|
Hypoalbuminemia, Hyperammonemia |
ORPHA:292 |
| Aicardi-Goutieres Syndrome 9 |
|
Failure to thrive, Optic atrophy, Hypoalbuminemia, Weight loss |
OMIM:619487 |
| Cholera |
|
Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration |
ORPHA:173 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Failure to thrive in infancy, Cachexia, Abnormal blood ion concentration, Hypoalbuminemia, Hypoca... |
ORPHA:37042 |
| Acute Adrenal Insufficiency |
|
Hyponatremia, Orthostatic hypotension, Hypercalcemia, Hyperkalemia, Weight loss, Increased circul... |
ORPHA:95409 |
| Porphyria Variegata |
|
Hyponatremia, Abnormal circulating porphyrin concentration, Abnormal autonomic nervous system phy... |
ORPHA:79473 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Optic atrophy, Hypoalbuminemia |
OMIM:617303 |
| Trichohepatoenteric Syndrome 1 |
|
Small for gestational age, Increased serum iron, Hypoalbuminemia, Microtia, Hypermethioninemia, A... |
OMIM:222470 |
| Necrotizing Enterocolitis |
|
Hyponatremia, Small for gestational age |
ORPHA:391673 |
| Refractory Anemia With Excess Blasts |
|
Abnormal circulating protein concentration, Abnormal circulating albumin concentration |
ORPHA:86839 |
| Bacterial Toxic-Shock Syndrome |
|
Hypocalcemia, Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulatin... |
ORPHA:36234 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Hyperkalemia, Failure to thrive, Increased circulating renin level |
ORPHA:90791 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Hypoalbuminemia, Weight loss |
ORPHA:67 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Failure to thrive, Macrotia, Hypoalbuminemia, Hypocholesterolemia |
OMIM:212065 |
| Familial Glucocorticoid Deficiency |
|
Hyponatremia, Failure to thrive, Hyperkalemia, Weight loss |
ORPHA:361 |
| Wilson Disease |
|
Decreased circulating ceruloplasmin concentration, Hypouricemia, Decreased nerve conduction veloc... |
OMIM:277900 |
| Galloway-Mowat Syndrome 3 |
|
Failure to thrive, Hypoalbuminemia, Low-set ears |
OMIM:617729 |
| Mirage Syndrome |
|
Hyponatremia, Hyperkalemia, Decreased body weight |
OMIM:617053 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Conductive hearing impairment, Sensorineural hearing impairment, Hypoalbuminemia, Low-set ears |
OMIM:235510 |
| Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... |
ORPHA:411634 |
| Infant Botulism |
|
Hyponatremia |
ORPHA:178478 |
| Primary Biliary Cholangitis |
|
Conjugated hyperbilirubinemia, Orthostatic hypotension, Abnormal circulating lipid concentration,... |
ORPHA:186 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... |
ORPHA:1215 |
| Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Prelingual ... |
ORPHA:52368 |
| Galloway-Mowat Syndrome 1 |
|
Small for gestational age, Optic atrophy, Hypoalbuminemia, Low-set ears, Macrotia |
OMIM:251300 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Increased circulating ferritin concentration, Vestibular areflexia, Absent brainstem auditory res... |
ORPHA:3240 |
| Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Failure to thrive, Decreased LDL cholesterol concentrati... |
ORPHA:14 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Optic atrophy, Hypokalemia, Hypocalcemia |
OMIM:617913 |
| Japanese Encephalitis |
|
Hyponatremia, Decreased motor nerve conduction velocity, Facial palsy, EEG with burst suppression... |
ORPHA:79139 |
| Adenohypophysitis |
|
Hyponatremia, Orthostatic hypotension, Sensorineural hearing impairment |
ORPHA:95512 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Failure to thrive, Hyperkalemia |
ORPHA:90790 |
| Whipple Disease |
|
Hyponatremia, Cachexia |
ORPHA:3452 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:617523 |
| Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Hyponatremia, Failure to thrive, Small for gestational age |
OMIM:618252 |
| Insulin-Resistance Syndrome Type B |
|
Abnormal circulating fatty-acid concentration, Increased body weight, Weight loss, Hypotriglyceri... |
ORPHA:2298 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Optic neuropathy, Optic atrophy... |
OMIM:610505 |
| Panhypophysitis |
|
Hyponatremia, Orthostatic hypotension, Sensorineural hearing impairment |
ORPHA:95513 |
| Legionnaires Disease |
|
Hyponatremia |
ORPHA:549 |
| Addison Disease |
|
Hyponatremia, Orthostatic hypotension, Hypercalcemia, Hyperkalemia, Weight loss, Increased circul... |
ORPHA:85138 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:619260 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
| Familial Dysautonomia |
|
Hyponatremia, Orthostatic hypotension, Optic atrophy |
ORPHA:1764 |
| Sheehan Syndrome |
|
Hyponatremia, Orthostatic hypotension, Obesity, Sensorineural hearing impairment |
ORPHA:91355 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hyperlipidemia, Hypoalbuminemia |
ORPHA:567546 |
| Shigellosis |
|
Hyponatremia, Failure to thrive in infancy, Abnormal blood ion concentration |
ORPHA:810 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Hypoalbuminemia |
OMIM:254900 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Hyperkalemia, Weight loss, Hypochloremia, Failure to thrive |
ORPHA:90794 |
| Chédiak-Higashi Syndrome |
|
Hyponatremia, Hypertriglyceridemia, Decreased nerve conduction velocity, Increased circulating fe... |
ORPHA:167 |
| Secondary Intestinal Lymphangiectasia |
|
Reduced circulating transferrin concentration, Decreased prealbumin level, Hypoalbuminemia, Hypoc... |
ORPHA:90363 |
| Narcolepsy 7 |
|
Narcolepsy, Obesity |
OMIM:614250 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Optic atrophy, Hypoalbuminemia |
ORPHA:505248 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Failure to thrive, Hypoalbuminemia |
ORPHA:79396 |
| Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Cachexia, Hyperkalemia, Weight loss, Hypercholesterolemia, Fa... |
ORPHA:275761 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Failure to thrive, Optic atrophy |
OMIM:616881 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyponatremia, Hyperkalemia, Abnormal circulating cholesterol concentration, Increased circulating... |
ORPHA:168558 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... |
ORPHA:206443 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilir... |
ORPHA:90038 |
| Juvenile Polyposis Of Infancy |
|
Cachexia, Hypoalbuminemia, Low-set ears |
ORPHA:79076 |
| Arthrogryposis, Distal, Type 2A |
|
Failure to thrive, Small for gestational age, Abnormal auditory evoked potentials, Hearing impair... |
OMIM:193700 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Failure to thrive, Hyperkalemia |
ORPHA:293978 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyponatremia, Hyperkalemia, Abnormal circulating cholesterol concentration, Increased circulating... |
ORPHA:289548 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Narcolepsy, Hyperlipidemia, Sensorineural hearing impairment, Hyperkalemia, Obesity... |
ORPHA:293987 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Small for gestational age, Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia, Failur... |
OMIM:613658 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hyponatremia, Hypokalemia, Failure to thrive |
OMIM:618426 |
| Pituitary Apoplexy |
|
Hyponatremia |
ORPHA:95613 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyponatremia, Hyperkalemia |
OMIM:201810 |
| Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Failure to thrive, Optic atrophy, Increased blood urea nitro... |
ORPHA:90321 |
| Holoprosencephaly |
|
Hyponatremia, Failure to thrive in infancy, External ear malformation, Optic atrophy, Abnormal an... |
ORPHA:2162 |
| Cystinosis, Nephropathic |
|
Hyponatremia, Failure to thrive in infancy, Reduced blood urea nitrogen, Hypophosphatemia, Weight... |
OMIM:219800 |
| Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Cachexia, Decreased nerve conduction velocity, Op... |
ORPHA:206436 |
| Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circulating creatin... |
ORPHA:99826 |
| Acute Intermittent Porphyria |
|
Hyponatremia |
ORPHA:79276 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Low-set, posteriorly rotated ears, Hypoammonemia, Protruding ear, EEG abnormality, ... |
ORPHA:534 |
| Smith-Lemli-Opitz Syndrome |
|
Aganglionic megacolon, Posteriorly rotated ears, Hypoalbuminemia, Elevated circulating 7-dehydroc... |
OMIM:270400 |
| Narcolepsy 3 |
|
Narcolepsy |
OMIM:609039 |
| Primary Sclerosing Cholangitis |
|
Hypoalbuminemia, Weight loss |
ORPHA:171 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,... |
ORPHA:99027 |
| Narcolepsy 1 |
|
Narcolepsy |
OMIM:161400 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Decreased nerve conduction velocity, Absent brainstem auditory responses, Sensorineural hearing i... |
ORPHA:101085 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hyperkalemia, Hypocalcemia |
ORPHA:544482 |
| Liver Disease, Severe Congenital |
|
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti... |
OMIM:619991 |
| Mend Syndrome |
|
Abnormal auditory evoked potentials, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Lo... |
ORPHA:401973 |
| Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, EEG abnormality |
ORPHA:206448 |
| Trisomy 10P |
|
Posteriorly rotated ears, Small for gestational age, Abnormal auditory evoked potentials, EEG wit... |
ORPHA:171929 |
| Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
Narcolepsy, Sensorineural hearing impairment, Optic atrophy |
OMIM:604121 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... |
OMIM:609136 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Macrotia, Hypoalbuminemia |
OMIM:614748 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating... |
OMIM:619534 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Low-set ears, Increased serum bile acid concentration |
ORPHA:731 |
| Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve conduct... |
ORPHA:909 |
| Cockayne Syndrome B |
|
Abnormal pinna morphology, Small for gestational age, Abnormal auditory evoked potentials, Decrea... |
OMIM:133540 |
| Mogs-Cdg |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy |
ORPHA:79330 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hyponatremia, Small for gestational age, Decreased circulating renin level, Hyperkalemia, Low-set... |
OMIM:201750 |
| Cockayne Syndrome A |
|
Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... |
OMIM:216400 |
| Tropical Endomyocardial Fibrosis |
|
Hypoalbuminemia, Cachexia |
ORPHA:75565 |
| Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Narcolepsy, Sensorineural hearing impairment, Optic atrophy |
ORPHA:314404 |
| Pmm2-Cdg |
|
Abnormal pinna morphology, Reduced thyroxin-binding globulin, Macrotia, Hypoalbuminemia, Failure ... |
ORPHA:79318 |
| Niemann-Pick Disease Type C |
|
Narcolepsy, Hearing impairment |
ORPHA:646 |
| African Trypanosomiasis |
|
Narcolepsy, Papilledema, Weight loss |
ORPHA:3385 |
