Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia |
DECIPHER:16 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipodystrophy, Generalized lipodystrop... |
OMIM:612526 |
Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:300971 |
Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration, Ankle flexion contracture |
OMIM:615883 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Hypochloremia, Hypokalemia, Hyperaldosteronism, Increased circulating renin level |
OMIM:214700 |
Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hyperkalemia |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hyperkalemia |
OMIM:614495 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia |
ORPHA:2239 |
Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Hyperkalemia |
OMIM:614496 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Hyperkalemia |
OMIM:143860 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism |
OMIM:613090 |
Vitamin D-Dependent Rickets, Type 3 |
|
Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
Blue Diaper Syndrome |
|
Abnormal circulating tryptophan concentration, Hypercalcemia |
OMIM:211000 |
Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Hyperkalemia, Decreased circulating renin level |
OMIM:614492 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration |
OMIM:619658 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:94090 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
Progressive Familial Intrahepatic Cholestasis |
|
Hypocalcemia |
ORPHA:172 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hyperkalemia |
OMIM:609153 |
Alpha-Heavy Chain Disease |
|
Hypocalcemia |
ORPHA:100025 |
Pancreatic Lipase Deficiency |
|
Steatorrhea, Hypocholesterolemia |
OMIM:614338 |
Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Hypoalbuminemia, Steatorrhea, Hypotriglyceridemia, Hypoc... |
OMIM:246700 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism, Polydipsia |
OMIM:602522 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Increased circulating corticosterone level, Hyperkalemia, Increased circulating ren... |
OMIM:610600 |
Hyperkalemic Periodic Paralysis |
|
Hyperkalemia |
OMIM:170500 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level |
OMIM:620126 |
Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
2P21 Microdeletion Syndrome |
|
Hypocalcemia |
ORPHA:163693 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level |
OMIM:620125 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, Hy... |
OMIM:601678 |
Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia |
OMIM:141000 |
Pseudohypoaldosteronism Type 2 |
|
Hyperkalemia, Abnormal dental enamel morphology |
ORPHA:757 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Pseudohypoaldosteronism, Type Iia |
|
Hyperkalemia |
OMIM:145260 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures |
ORPHA:93324 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypochloremia, Hypokalemia, Hyperaldosteronis... |
OMIM:241200 |
Hyperlysinemia, Type I |
|
Hyperactivity, Hyperlysinemia |
OMIM:238700 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
Familial Isolated Hypoparathyroidism |
|
Abnormal dental enamel morphology, Hypocalcemia |
ORPHA:2238 |
Hyperprolinemia, Type I |
|
Hyperactivity, Abnormal repetitive mannerisms, Hyperprolinemia, Aggressive behavior |
OMIM:239500 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
Autoimmune Hypoparathyroidism |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
ORPHA:36913 |
Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinemia |
OMIM:605899 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:268200 |
Pseudopseudohypoparathyroidism |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:79445 |
Bartter Syndrome Type 4 |
|
Hyponatremia, Hypochloremia, Hypokalemia, Hyperaldosteronism, Increased circulating renin level, ... |
ORPHA:89938 |
Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypokalemia, Hypocalcemia, Anorexia, Hypomagnesemia |
OMIM:175500 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypocholesterolemia |
OMIM:610539 |
Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Abnormal circulating corticosterone level, Elevated serum 11-deoxycor... |
ORPHA:556037 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... |
OMIM:616834 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... |
OMIM:615558 |
Hypotonia-Cystinuria Syndrome |
|
Polyphagia, Hypocalcemia |
OMIM:606407 |
Hyperparathyroidism 4 |
|
Hypercalcemia |
OMIM:617343 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:89937 |
Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Enamel hypoplasia, Hyperphosphatemia, Hypocalcemia |
OMIM:612462 |
Potocki-Lupski Syndrome |
|
Abnormal repetitive mannerisms, Hyperactivity, Oral-pharyngeal dysphagia, Hypocholesterolemia |
OMIM:610883 |
Hypoadrenocorticism, Familial |
|
Hyponatremia, Hyperkalemia |
OMIM:240200 |
Hyperaldosteronism, Familial, Type Ii |
|
Hypokalemia, Hyperaldosteronism |
OMIM:605635 |
Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Abnormal circulating corticosterone level, Elevated serum 11-deoxycor... |
ORPHA:556030 |
Oculoskeletodental Syndrome |
|
Hypercalcemia, Enamel hypoplasia, Hypocalcemia |
ORPHA:557003 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:203400 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Hyperaldosteronism, Hyperkalemia |
OMIM:264350 |
Hypercalcemia, Infantile, 2 |
|
Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level |
OMIM:177735 |
Ring Chromosome 10 Syndrome |
|
Hypocalcemia |
ORPHA:1438 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Hypokalemia |
OMIM:613345 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Abnormal adipose tissue morphology, Hypocalcemia, Hypophosphatemia |
ORPHA:93160 |
Granulomatous Slack Skin |
|
Hypercalcemia |
ORPHA:33111 |
Refractory Celiac Disease |
|
Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia |
ORPHA:398063 |
Genetic Recurrent Myoglobinuria |
|
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia |
ORPHA:99845 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Hypokalemia, Self-biting, Hypomagnesemia |
OMIM:618314 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia |
ORPHA:199296 |
Intermediate Osteopetrosis |
|
Hypocalcemia |
ORPHA:210110 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
Colchicine Poisoning |
|
Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... |
ORPHA:31824 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia |
OMIM:614736 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
Kenny-Caffey Syndrome, Type 1 |
|
Hypocalcemia, Hypomagnesemia |
OMIM:244460 |
Small Cell Carcinoma Of The Bladder |
|
Hypercalcemia |
ORPHA:284400 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Multiple lipomas, Hypermagnesemia, Hypercalcemia, Chondrocalcinosis |
OMIM:145981 |
Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Flexion contracture, Hyperkalem... |
ORPHA:682 |
Albers-Schönberg Osteopetrosis |
|
Hypocalcemia |
ORPHA:53 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Enamel hypoplasia, Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia |
OMIM:264700 |
X-Linked Agammaglobulinemia |
|
Hypocalcemia, Cellulitis |
ORPHA:47 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Hypocalcemia, Hypophosphatemia |
OMIM:600081 |
Squalene Synthase Deficiency |
|
Increased circulating farnesol concentration, Elbow flexion contracture, Decreased LDL cholestero... |
OMIM:618156 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:241410 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin |
OMIM:618528 |
Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Enamel hypoplasia, Hypocalcemic... |
ORPHA:94089 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Hypercalcemia |
ORPHA:2668 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Hypertriglyceridemia |
OMIM:615924 |
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Hypokalemia, Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnes... |
OMIM:241150 |
Phenylketonuria |
|
Maternal hyperphenylalaninemia, Hyperactivity, Aggressive behavior, Compulsive behaviors, Hyperph... |
OMIM:261600 |
Timothy Syndrome |
|
Hypocalcemia |
OMIM:601005 |
Dahlberg-Borer-Newcomer Syndrome |
|
Hypocalcemia |
ORPHA:1563 |
Familial Isolated Hyperparathyroidism |
|
Hypercalcemia, Chondrocalcinosis, Hypophosphatemia |
ORPHA:99879 |
Blue Diaper Syndrome |
|
Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
Osteopetrosis, Autosomal Recessive 9 |
|
Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:620366 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Oculoskeletodental Syndrome |
|
Hypercalcemia, Elbow flexion contracture, Hypocalcemia |
OMIM:618440 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Dysphagia, Hyperp... |
ORPHA:94093 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hypercalcemia |
OMIM:239199 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hypochloremia |
ORPHA:90794 |
Cholera |
|
Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration |
ORPHA:173 |
Peroxisome Biogenesis Disorder 3B |
|
Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterolemia |
OMIM:266510 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Glucocortocoid-insensitive primary hyperaldosteronism, Hyperkalemia, Increased circ... |
ORPHA:171876 |
Diffuse Neonatal Hemangiomatosis |
|
Hypercalcemia |
ORPHA:2123 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Enamel hypoplasia, Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia |
ORPHA:289157 |
Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
ORPHA:90362 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Hypoalbuminemia, Hypocalcemia, Elevated circulating C-reactive protein concentration |
ORPHA:247353 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Inappropriate laughter, Hypocalcemia |
OMIM:618476 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... |
ORPHA:411634 |
Sanjad-Sakati Syndrome |
|
Abnormal dental enamel morphology, Hyperphosphatemia, Hypocalcemia |
ORPHA:2323 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Elevated creatine kinase after exercise, Hyperkalemia |
ORPHA:57 |
Hypomagnesemia 2, Renal |
|
Hypokalemia, Chondrocalcinosis, Hypomagnesemia |
OMIM:154020 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
OMIM:618183 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ... |
ORPHA:26793 |
Oncogenic Osteomalacia |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:352540 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Enamel hypoplasia, Polyphagia, ... |
ORPHA:79444 |
Gracile Bone Dysplasia |
|
Hypocalcemia |
OMIM:602361 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Hypokalemia, Hypocalcemia, Dysphagia |
OMIM:617913 |
Nephronophthisis 2 |
|
Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:602088 |
Familial Pseudohyperkalemia |
|
Hyperkalemia |
ORPHA:90044 |
Hypercalcemia, Infantile, 1 |
|
Hypercalcemia |
OMIM:143880 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Conjugated hyperbilirubinemia, Steatorrhea, Hypocholesterolemia |
OMIM:607765 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Hypokalemia |
OMIM:170400 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hypocalcemia |
OMIM:259700 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Inguinal hernia, Hypoproteinemia, Hypocalcemia |
OMIM:235255 |
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Episodic hypokalemia, Hypomagnesemia |
ORPHA:564178 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypercalcemia, Hypermagnesemia, Multiple lipomas, Hypophosphatemia, Chondrocalcinosis |
OMIM:600740 |
Liddle Syndrome |
|
Hypokalemia |
ORPHA:526 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Transient hyperphenylalaninemia, Aggressive behavior |
OMIM:612716 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypercalcemia |
OMIM:614732 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Hypocalcemia |
OMIM:607143 |
Hypophosphatasia |
|
Hypercalcemia |
ORPHA:436 |
Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Elevated circulating creatine kinase concentration, Elevated circulating creatinine co... |
ORPHA:36234 |
Velocardiofacial Syndrome |
|
Umbilical hernia, Inguinal hernia, Hypocalcemia, Aggressive behavior |
OMIM:192430 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hypocalcemic tetany, Hyperaldosteronism, Hypocalcemia, Hypomagnesemia |
ORPHA:73224 |
Rhabdoid Tumor |
|
Hypercalcemia |
ORPHA:69077 |
Celiac Disease, Susceptibility To, 1 |
|
Enamel hypoplasia, Hypocalcemia, Steatorrhea |
OMIM:212750 |
Chylomicron Retention Disease |
|
Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia |
ORPHA:71 |
Hyperaldosteronism, Familial, Type Iii |
|
Hypokalemia, Hyperaldosteronism, Polydipsia, Decreased circulating renin level |
OMIM:613677 |
Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia |
OMIM:127000 |
Autosomal Dominant Hypocalcemia |
|
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia |
ORPHA:428 |
8p23.1 deletion syndrome |
|
Hyperactivity, Congenital diaphragmatic hernia |
DECIPHER:39 |
Double Outlet Right Ventricle |
|
Hypocalcemia |
ORPHA:3426 |
Uremic Pruritus |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Inguinal hernia, Hypoproteinemia, Hypocalcemia |
ORPHA:1655 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Enamel hypoplasia, Polyphagia, ... |
ORPHA:79443 |
Ethylene Glycol Poisoning |
|
Addictive alcohol use, Hyperkalemia, Hypocalcemia |
ORPHA:31826 |
Liddle Syndrome 2 |
|
Hypokalemia, Decreased circulating renin level |
OMIM:618114 |
Liddle Syndrome 3 |
|
Hypokalemia, Decreased circulating renin level |
OMIM:618126 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hypercalcemia |
OMIM:145001 |
Familial Hyperaldosteronism Type I |
|
Hypokalemia, Polydipsia, Dexamethasone-suppressible primary hyperaldosteronism |
ORPHA:403 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hypercalcemia, Anorexia, Hyperkalemia, Hyperu... |
ORPHA:199299 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145980 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... |
OMIM:619827 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypocalcemia |
ORPHA:746 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia |
OMIM:612089 |
Pseudohypoparathyroidism, Type Ia |
|
Hypocalcemic tetany, Enamel hypoplasia, Hyperphosphatemia |
OMIM:103580 |
Igg4-Related Thyroid Disease |
|
Hypocalcemia, Dysphagia |
ORPHA:64744 |
Infantile Myofibromatosis |
|
Hypercalcemia, Chondrocalcinosis |
ORPHA:2591 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Decreased circulating cortisol level, Salt craving, Hypercalcemia, Anorexia, Hyperk... |
ORPHA:95409 |
Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:427 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Elevated creatine kinase after exercise, Hypercalcemia |
ORPHA:284426 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Inguinal hernia, Impulsivity, Aggressive behavior, Frequent temper tantrums, Atten... |
OMIM:620141 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Abnormal blood ion concentration, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Decreased prealb... |
ORPHA:37042 |
East Syndrome |
|
Salt craving, Hypokalemia, Hyperaldosteronism, Increased circulating renin level, Hypomagnesemia,... |
ORPHA:199343 |
Familial Glucocorticoid Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Anorexia |
ORPHA:361 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hypocholesterolemia |
OMIM:618810 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Polydipsia, Hypercalcemia, Hypophosphatemia |
OMIM:239200 |
Liddle Syndrome 1 |
|
Hypokalemia, Decreased circulating renin level |
OMIM:177200 |
Hypophosphatasia, Infantile |
|
Elevated plasma pyrophosphate, Hypercalcemia, Anorexia |
OMIM:241500 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Hypokalemia, Hyperamylasemia |
OMIM:604278 |
Glucose-Galactose Malabsorption |
|
Hypernatremia, Hypercalcemia |
ORPHA:35710 |
Birk-Landau-Perez Syndrome |
|
Hyperkalemia, Increased circulating creatine kinase MB isoform |
OMIM:617595 |
Isotretinoin-Like Syndrome |
|
Inguinal hernia, Hypocalcemia |
ORPHA:2306 |
Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Lipoma, Chondrocalcinosis, Hypocalcemic s... |
ORPHA:405 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Hypercalcemia, Aggressive behavior, Compulsive behaviors, Attention deficit hyperactivity disorde... |
ORPHA:476126 |
Non-Functioning Paraganglioma |
|
Hypercalcemia |
ORPHA:94080 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Abnormal dental enamel morphology, Polyphagia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:251004 |
Gitelman Syndrome |
|
Salt craving, Hypermagnesemia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Primary hyperaldosteron... |
ORPHA:358 |
Corticosteroid-Binding Globulin Deficiency |
|
Hypokalemia, Decreased circulating cortisol level |
OMIM:611489 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hypocalcemia, Hyperbilirubinemia |
OMIM:259720 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Hypercalcemia |
OMIM:171420 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Abetalipoproteinemia, Decreased LDL cholesterol concentration, Elevated circulating creatine kina... |
ORPHA:96180 |
Familial Hyperaldosteronism Type Iii |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Polydipsia, Dexamethasone-sup... |
ORPHA:251274 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hypokalemia, Anorexia |
OMIM:611590 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Abnormal subcutaneous fat tissue distribution, Flexion contracture, Hypoalbuminemia, Steatorrhea,... |
OMIM:212065 |
Pearson Syndrome |
|
Hypomagnesemia, Steatorrhea, Dysphagia, Hypokalemia, Hypocalcemia, Hypophosphatemia, Hyperalaninemia |
ORPHA:699 |
Renal Hypoplasia, Bilateral |
|
Hyponatremia, Hyperkalemia |
ORPHA:97362 |
Alg12-Cdg |
|
Hyponatremia, Abnormal adipose tissue morphology, Hypoalbuminemia, Camptodactyly, Hypocholesterol... |
ORPHA:79324 |
Primary Unilateral Adrenal Hyperplasia |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Polydipsia, Decreased circula... |
ORPHA:231580 |
Apparent Mineralocorticoid Excess |
|
Hypokalemia, Decreased circulating renin level |
OMIM:218030 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Knee flexion contracture, Hip contracture, Hypercalcemia, Hypophosphatemia |
OMIM:156400 |
Familial Hyperaldosteronism Type Ii |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Dexamethasone-suppressible pr... |
ORPHA:404 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Nail-biting, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious behavior, Fixated inte... |
OMIM:620330 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Hypokalemia |
OMIM:602722 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Hyperkalemia, Decreased circulating cortisol level, Increased circulating renin level |
ORPHA:90791 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hypokalemia |
OMIM:188580 |
Malignant Hyperthermia Of Anesthesia |
|
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia |
ORPHA:423 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia |
ORPHA:90790 |
Thymic Neuroendocrine Tumor |
|
Increased circulating cortisol level, Hypercalcemia |
ORPHA:97289 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperactivit... |
ORPHA:247585 |
Addison Disease |
|
Hyponatremia, Decreased circulating cortisol level, Salt craving, Hypercalcemia, Anorexia, Hyperk... |
ORPHA:85138 |
Renal Tubular Acidosis Iii |
|
Hypokalemia |
OMIM:267200 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypocalcemia, Hypocalcemic seizures |
ORPHA:2237 |
Apparent Mineralocorticoid Excess |
|
Hypokalemia, Polydipsia, Abnormality of circulating cortisol level, Decreased circulating renin l... |
ORPHA:320 |
Hypokalemic Periodic Paralysis |
|
Episodic hypokalemia, Mildly elevated creatine kinase |
ORPHA:681 |
Mirage Syndrome |
|
Hyponatremia, Hyperkalemia |
OMIM:617053 |
Cystinosis |
|
Hypokalemia, Polydipsia, Abnormal repetitive mannerisms, Hypophosphatemia |
ORPHA:213 |
Exercise-Induced Malignant Hyperthermia |
|
Hypocalcemia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
ORPHA:466650 |
Hypercholesterolemia, Familial, 3 |
|
Hypercholesterolemia, Abnormal LDL cholesterol concentration, Xanthelasma |
OMIM:603776 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Hypokalemia |
OMIM:613239 |
Craniofacioskeletal Syndrome |
|
Hypocalcemia |
OMIM:300712 |
Cartilage-Hair Hypoplasia |
|
Hypocalcemia |
ORPHA:175 |
Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Steatorrhea, Hy... |
ORPHA:14 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Hypomagnesemia, Mildly elevated c... |
ORPHA:79102 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hyperkalemia, Hypocalcemia |
ORPHA:544482 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hypocalcemia, Hyperbilirubinemia |
ORPHA:163979 |
Histidinemia |
|
Hyperactivity, Hyperhistidinemia |
ORPHA:2157 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Conjugated hyperbilirubinemia, Hyperkalemia |
OMIM:608885 |
Paget Disease Of Bone 2, Early-Onset |
|
Hypercalcemia |
OMIM:602080 |
Ectopic Aldosterone-Producing Tumor |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Decreased circulating renin l... |
ORPHA:231632 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Hyperactivity, Neonatal hyperbilirubinemia, Hiatus hernia |
OMIM:609727 |
Hennekam Syndrome |
|
Camptodactyly of finger, Hypocalcemia |
ORPHA:2136 |
Dubowitz Syndrome |
|
Hyperactivity, Inguinal hernia, Hypocholesterolemia |
OMIM:223370 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Inguinal hernia, Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia |
OMIM:613658 |
Cranioectodermal Dysplasia 1 |
|
Inguinal hernia, Hypocalcemia, Enamel hypoplasia |
OMIM:218330 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Hyperkalemia, Xanthelasma, Steatorrhea, Hypercholesterolemia |
ORPHA:275761 |
22Q11.2 Deletion Syndrome |
|
Inguinal hernia, Abnormal dental enamel morphology, Hypocalcemia, Attention deficit hyperactivity... |
ORPHA:567 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Hypercalcemia, Hypophosphatemia, Dysphagia, Lipoma, Polydipsia, Chondrocalcinosis |
ORPHA:99880 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Increased circulating cortiso... |
ORPHA:231625 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Polydipsia, Hypokalemia, Hyperaldosteronism, Dexamethasone-suppressible primary hyperaldosteronism |
ORPHA:369929 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Salt craving, Hypokalemia, Hyperaldosteronism, Increased circulating renin level, Hypomagnesemia,... |
OMIM:612780 |
Romano-Ward Syndrome |
|
Hypokalemia |
ORPHA:101016 |
Parathyroid Carcinoma |
|
Hypercalcemia, Hypophosphatemia, Dysphagia, Lipoma, Polydipsia, Chondrocalcinosis |
ORPHA:143 |
Multiple Endocrine Neoplasia, Type I |
|
Increased circulating cortisol level, Hypercalcemia, Subcutaneous lipoma |
OMIM:131100 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:667 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia |
ORPHA:293978 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Reduced subcutaneous adipose tissue, Hip contracture, Inguinal hernia, Impulsivity, Flexion contr... |
OMIM:619503 |
Secondary Intestinal Lymphangiectasia |
|
Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Decreased pr... |
ORPHA:90363 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Abnormal circulating cholestero... |
ORPHA:168558 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Abnormal circulating cholestero... |
ORPHA:289548 |
Fanconi Renotubular Syndrome 1 |
|
Hypokalemia, Hypophosphatemia |
OMIM:134600 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Aggressive behavior, Hyperlipidemia, Hyperkalemia, Self-injurious behavior, Compuls... |
ORPHA:293987 |
Osteopetrosis With Renal Tubular Acidosis |
|
Hypocalcemia, Elevated circulating creatine kinase concentration |
ORPHA:2785 |
Helix Syndrome |
|
Hypokalemia, Polydipsia, Hypermagnesemia |
OMIM:617671 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyponatremia, Hyperkalemia |
OMIM:201810 |
Kaufman Oculocerebrofacial Syndrome |
|
Hypocholesterolemia |
OMIM:244450 |
Mercury Poisoning |
|
Hypokalemia, Anorexia |
ORPHA:330021 |
Liver Disease, Severe Congenital |
|
Hyponatremia, Inguinal hernia, Elevated circulating alpha-fetoprotein concentration, Increased ci... |
OMIM:619991 |
Tangier Disease |
|
Hypertriglyceridemia, Hypocholesterolemia |
ORPHA:31150 |
Vipoma |
|
Hypercalcemia, Anorexia, Hypokalemia, Increased circulating cortisol level, Subcutaneous lipoma |
ORPHA:97282 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei... |
OMIM:613095 |
Monosomy 13Q34 |
|
Hypercalcemia |
ORPHA:96168 |
Ppoma |
|
Increased circulating cortisol level, Hypercalcemia, Subcutaneous lipoma, Anorexia |
ORPHA:97278 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypercalcemia |
ORPHA:276621 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:93325 |
Fanconi-Bickel Syndrome |
|
Reduced subcutaneous adipose tissue, Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosem... |
OMIM:227810 |
Pheochromocytoma |
|
Hypercalcemia |
OMIM:171300 |
Somatostatinoma |
|
Hypercalcemia, Anorexia, Increased circulating cortisol level, Steatorrhea, Subcutaneous lipoma |
ORPHA:97283 |
Adrenocortical Carcinoma |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Hypokalemia, Hyperald... |
ORPHA:1501 |
Gitelman Syndrome |
|
Salt craving, Hypokalemia, Increased circulating renin level, Hypomagnesemia, Polydipsia, Chondro... |
OMIM:263800 |
Vitamin D-Dependent Rickets, Type 2A |
|
Enamel hypoplasia, Hypocalcemic seizures, Hypophosphatemia |
OMIM:277440 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia, Enthesitis |
ORPHA:289176 |
Hemorrhagic Fever-Renal Syndrome |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration, Agitation |
ORPHA:340 |
Digeorge Syndrome |
|
Inguinal hernia, Femoral hernia, Hypocalcemia, Attention deficit hyperactivity disorder, Umbilica... |
OMIM:188400 |
Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Hypokalemia, Hyperaldosteronism, Increased circulating renin level |
OMIM:607364 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Primary hyperaldosteronism, Hypokalemia, Decreased circulating renin level |
OMIM:615474 |
Smith-Lemli-Opitz Syndrome |
|
Hyperactivity, Aggressive behavior, Hypoalbuminemia, Elevated circulating 7-dehydrocholesterol co... |
OMIM:270400 |
Glucagonoma |
|
Hypercalcemia, Anorexia, Increased circulating cortisol level, Steatorrhea, Subcutaneous lipoma |
ORPHA:97280 |
Grfoma |
|
Increased circulating cortisol level, Hypercalcemia, Subcutaneous lipoma, Anorexia |
ORPHA:97261 |
Zollinger-Ellison Syndrome |
|
Lipoma, Multiple lipomas, Increased circulating cortisol level, Hypercalcemia |
ORPHA:913 |
Fibrous Dysplasia Of Bone |
|
Increased circulating cortisol level, Hypercalcemia, Hypophosphatemia |
ORPHA:249 |
Multiple Myeloma |
|
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia |
ORPHA:29073 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Hypocalcemic tetany |
ORPHA:83471 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Hypercalcemia |
ORPHA:29072 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypertriglyceridemia, Hypercalcemia |
ORPHA:369837 |
Infantile Nephropathic Cystinosis |
|
Hypokalemia, Polydipsia, Abnormal blood ion concentration, Hypophosphatemia |
ORPHA:411629 |
Charge Syndrome |
|
Omphalocele, Hypocalcemia, Dysphagia, Umbilical hernia, Self-mutilation |
OMIM:214800 |
Juvenile Polyposis Syndrome |
|
Hypokalemia, Hypoalbuminemia |
OMIM:174900 |
Multiple Endocrine Neoplasia Type 4 |
|
Increased circulating cortisol level, Hypercalcemia, Subcutaneous lipoma |
ORPHA:276152 |
Pituitary Adenoma 4, Acth-Secreting |
|
Hypokalemia |
OMIM:219090 |
Rabson-Mendenhall Syndrome |
|
Reduced subcutaneous adipose tissue, Hypokalemia, Polydipsia, Increased C-peptide level |
ORPHA:769 |
Osteootohepatoenteric Syndrome |
|
Hypokalemia, Increased serum bile acid concentration |
OMIM:619377 |
Multiple Endocrine Neoplasia Type 2 |
|
Reduced subcutaneous adipose tissue, Hypercalcemia |
ORPHA:653 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Hypokalemia, Decreased circulating cortisol level, Decreased circulating renin level |
ORPHA:90795 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Inguinal hernia, Hypoammonemia, Abnormal dental enamel morphology, Atypical scarrin... |
ORPHA:534 |
Multiple Endocrine Neoplasia Type 1 |
|
Hypercalcemia, Anorexia, Multiple lipomas, Increased circulating cortisol level, Primary hypercor... |
ORPHA:652 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypokalemia, Elevated serum 11-deoxycortisol, Decreased circulating renin level |
OMIM:202010 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Bicarbonaturia, Hypophosphatemia, Hypokalemia, Decreased circulating carnitine conc... |
ORPHA:3337 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypokalemia, Decreased circulating cortisol level, Increased circulating corticosterone level, De... |
ORPHA:90793 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Elevated serum 11-deoxycortisol... |
OMIM:201750 |
Johanson-Blizzard Syndrome |
|
Conjugated hyperbilirubinemia, Hypocalcemia, Increased VLDL cholesterol concentration |
OMIM:243800 |
Cystinosis, Nephropathic |
|
Hyponatremia, Oral-pharyngeal dysphagia, Reduced blood urea nitrogen, Hypophosphatemia, Dysphagia... |
OMIM:219800 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Hypokalemia, Enamel hypoplasia |
OMIM:170390 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilir... |
ORPHA:90038 |
Nelson Syndrome |
|
Secondary hypercortisolism, Hypokalemia, Increased circulating cortisol level |
ORPHA:199244 |
Generalized Glucocorticoid Resistance Syndrome |
|
Hypokalemia, Increased circulating cortisol level |
ORPHA:786 |
Williams Syndrome |
|
Inguinal hernia, Abnormal dental enamel morphology, Hypercalcemia, Elevated circulating creatine ... |
ORPHA:904 |
Proximal Renal Tubular Acidosis |
|
Polydipsia, Hypokalemia, Enamel hypomineralization, Bicarbonaturia |
ORPHA:47159 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hyponatremia, Hypokalemia |
OMIM:618426 |
Distal Renal Tubular Acidosis |
|
Hypokalemia, Polydipsia |
ORPHA:18 |
Williams-Beuren Syndrome |
|
Inguinal hernia, Hypercalcemia, Flexion contracture, Attention deficit hyperactivity disorder, Um... |
OMIM:194050 |
Osteopetrosis, Autosomal Recessive 7 |
|
Hypocalcemic seizures |
OMIM:612301 |
Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Hyperamylasemia, Anorexia, Aggressive behavio... |
ORPHA:99826 |
Sotos Syndrome |
|
Hip contracture, Inguinal hernia, Hypercalcemia, Ankle flexion contracture, Aggressive behavior, ... |
ORPHA:821 |
Scorpion Envenomation |
|
Restlessness, Hypokalemia, Increased circulating NT-proBNP concentration, Increased circulating c... |
ORPHA:466677 |
Leprechaunism |
|
Reduced subcutaneous adipose tissue, Hypokalemia, Hyperaldosteronism, Increased circulating renin... |
ORPHA:508 |
Sarcoidosis |
|
Scarring, Hypercalcemia |
ORPHA:797 |
Immunodeficiency 87 And Autoimmunity |
|
Hypokalemia, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration |
OMIM:619573 |
Tsh-Secreting Pituitary Adenoma |
|
Hypokalemia |
ORPHA:91347 |
Vascular Ehlers-Danlos Syndrome |
|
Inguinal hernia, Cigarette-paper scars, Cystocele, Hypokalemia, Uterine prolapse, Umbilical hernia |
ORPHA:286 |