Pseudohypoparathyroidism, Type Ii |
|
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hyperphosphatemia, Hypo... |
OMIM:203330 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Decreased circulating parathyroid hormone level, Hyperphosphatemia, Hypocalcemic seizures, Hypoca... |
OMIM:618883 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Congenital hypoparathyroidism, Hypocalcemic seizures, Parathyroid agenesis, Hypomagnesemia, Hypoc... |
ORPHA:2239 |
Familial Isolated Hyperparathyroidism |
|
Elevated circulating parathyroid hormone level, Hypercalcemia, Hyperphosphaturia, Hypercalciuria,... |
ORPHA:99879 |
Pseudohypoparathyroidism Type 2 |
|
Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Hypocalcemic seizures, Pseud... |
ORPHA:94090 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Decreased circulating parathyroid hormone level, Hypoparathyroidism, Hyperphosphatemia, Hypocalcemia |
OMIM:146200 |
Pseudohypoparathyroidism, Type Ib |
|
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hyperphosphatemia, Hypo... |
OMIM:603233 |
Hyperparathyroidism 4 |
|
Hypercalcemia, Parathyroid carcinoma, Nephrolithiasis, Osteopenia, Primary hyperparathyroidism |
OMIM:617343 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Hyperphosphaturia, Increased susceptibility to fractures, Osteoporosis, Hypophosphatemia, Nephrol... |
OMIM:612286 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Hypercalcemia, Bone cyst, Hyperparathyroidism, Glomerulopathy, Proteinuria, Renal insufficiency |
ORPHA:2668 |
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion |
|
Abnormality of the parathyroid gland, Secondary hyperparathyroidism |
ORPHA:140286 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Elevated circulating parathyroid hormone level, Hypercalcemia, Rickets, Hypophosphatemia, Renal p... |
OMIM:612089 |
Fanconi Renotubular Syndrome 2 |
|
Generalized aminoaciduria, Rickets, Proximal tubulopathy, Hypophosphatemia, Glycosuria, Osteopeni... |
OMIM:613388 |
Idiopathic Hypercalciuria |
|
Calcium oxalate nephrolithiasis, Osteoporosis, Renal calcium wasting, Osteopenia, Hypercalciuria |
ORPHA:2197 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Hyperphosphaturia, Increased susceptibility to fractures, Osteoporosis, Hypophosphatemia, Nephrol... |
OMIM:612287 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hypercalcemia, Nephrocalcinosis, Renal tubular acidosis, Hyperparathyroidism, Hypercalciuria |
OMIM:239199 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrocalcinosis, Proximal tubulopathy... |
OMIM:308990 |
Hypercalcemia, Infantile, 2 |
|
Hypercalcemia, Nephrocalcinosis, Hypophosphatemia, Renal phosphate wasting, Medullary nephrocalci... |
OMIM:616963 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypercalcemia, Pancreatitis, Nephrolithiasis, Hypocalciuria, Hyperparathyroidism, Hypermagnesemia... |
OMIM:145980 |
Parathyroid Carcinoma |
|
Hypercalcemia, Parathyroid carcinoma, Hyperparathyroidism |
OMIM:608266 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Rickets, Craniosynostosis, Hypophosphatemia, Increased bone mineral density, Hypophosphatemic ric... |
OMIM:241520 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hyperphosphaturia, Hypophosphatemia, Nephrolithiasis, Reduced bone mineral density, Decreased cir... |
ORPHA:157215 |
Vitamin D-Dependent Rickets, Type 3 |
|
Elevated circulating parathyroid hormone level, Hypophosphatemia, Hypocalcemia, Osteopenia |
OMIM:619073 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Cortical thickening of long bone diaphyses, Congenital hypoparathyroidism, Hypocalcemic tetany, H... |
ORPHA:93324 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypercalcemia, Hypoparathyroidism, Hyperphosphaturia, Hip contracture, Nephrocalcinosis, Hypophos... |
OMIM:156400 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Rickets, Hypophosphatemia, Renal phosphate wasting, Osteomalacia, Hypophosphatemic rickets |
OMIM:193100 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Elevated circulating parathyroid hormone level, Hypercalcemia, Hyperphosphatemia, Parathyroid hyp... |
OMIM:617994 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Thin bony cortex, Rickets, Nephrocalcinosis, Proximal tubulopathy, Hypophosphatemia, Delayed epip... |
OMIM:300554 |
Dent Disease 1 |
|
Hyperphosphaturia, Thin bony cortex, Aminoaciduria, Rickets, Nephrocalcinosis, Proximal tubulopat... |
OMIM:300009 |
Hyperparathyroidism 1 |
|
Hypercalcemia, Primary hyperparathyroidism |
OMIM:145000 |
Hypocalcemia, Autosomal Dominant 2 |
|
Hypocalcemia |
OMIM:615361 |
Fanconi Renotubular Syndrome 1 |
|
Renal tubular dysfunction, Aminoaciduria, Hypokalemia, Rickets, Lacticaciduria, Hypophosphatemia,... |
OMIM:134600 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypercalcemia, Multiple small medullary renal cysts, Hypophosphatemia, Pancreatitis, Nephrolithia... |
OMIM:600740 |
Autoimmune Hypoparathyroidism |
|
Autoimmune hypoparathyroidism, Hypocalcemic tetany, Hypocalcemic seizures, Increased bone mineral... |
ORPHA:36913 |
Wilson Disease |
|
Hyperphosphaturia, Hypoparathyroidism, High nonceruloplasmin-bound serum copper, Renal tubular dy... |
OMIM:277900 |
Familial Isolated Hypoparathyroidism |
|
Hypoparathyroidism, Nephropathy, Abnormal calcium-phosphate regulating hormone level, Hypocalcemia |
ORPHA:2238 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Nephrocalcinosis, Decreased glomerular filtration rate, Nephrolithiasis, Decreased c... |
OMIM:601198 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia |
DECIPHER:16 |
Blue Diaper Syndrome |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypercalcemia, Decreased circulat... |
ORPHA:94086 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Bone cyst, Hypophosphatemia, Abnormal bone structure, Nephrolithiasis, Coarse metaphyseal trabecu... |
ORPHA:93160 |
Hypoparathyroidism, X-Linked |
|
Congenital hypoparathyroidism, Abnormality of the neck |
OMIM:307700 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hypercalcemia, Parathyroid carcinoma, Hurthle cell thyroid adenoma, Recurrent pancreatitis, Pancr... |
OMIM:145001 |
Dent Disease 2 |
|
Nephrocalcinosis, Elevated circulating creatine kinase concentration, Proximal tubulopathy, Hypop... |
OMIM:300555 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Hypokalemia, Nephrocalcinosis, Rickets, Hypercalciuria, Distal renal tubular acidosis |
OMIM:602722 |
Dent Disease |
|
Rickets, Tubulointerstitial fibrosis, Hyperuricosuria, Non-acidotic proximal tubulopathy, Renal h... |
ORPHA:1652 |
Hypophosphatemia, Renal, With Intracerebral Calcifications |
|
Renal phosphate wasting, Renal hypophosphatemia |
OMIM:241519 |
Hypomagnesemia 1, Intestinal |
|
Hypomagnesemia, Hypocalcemia |
OMIM:602014 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypospadias, Hypercalcemia, Adrenal hypoplasia, Micropenis, Cryptorchidism, Decreased response to... |
OMIM:614732 |
Pseudohypoparathyroidism Type 1B |
|
Elevated circulating parathyroid hormone level, Increased bone density with cystic changes, Hypoc... |
ORPHA:94089 |
Dahlberg-Borer-Newcomer Syndrome |
|
Hypoparathyroidism, Hypocalcemia, Hypohidrosis, Nephropathy, Hypothyroidism, Renal insufficiency |
ORPHA:1563 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Congenital hypoparathyroidism, Hypocalcemic seizures, Patchy osteosclerosis, Decreased response t... |
OMIM:241410 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hyperphosphaturia, Rickets, Hypophosphatemia, Hypocalcemia, Osteomalacia |
ORPHA:89937 |
Hypophosphatemic Bone Disease |
|
Osteomalacia, Hypophosphatemia, Rickets |
OMIM:146350 |
Hyperparathyroidism, Neonatal Severe |
|
Elevated circulating parathyroid hormone level, Hypercalcemia, Hyperphosphaturia, Calcinosis, Ami... |
OMIM:239200 |
Sanjad-Sakati Syndrome |
|
Hypoparathyroidism, Congenital hypoparathyroidism, Patchy osteosclerosis, Hypocalcemia, Cryptorch... |
ORPHA:2323 |
Hypophosphatemic Rickets |
|
Rickets, Fibrous dysplasia of the bones, Hypophosphatemia, Patchy variation in bone mineral densi... |
ORPHA:437 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Renal tubular dysfunction, Thin bony cortex, Rickets, Hypophosphatemia, Delayed epiphyseal ossifi... |
OMIM:241530 |
Calciphylaxis |
|
Stage 5 chronic kidney disease, Secondary hyperparathyroidism, Hyperphosphatemia, Ectopic ossific... |
ORPHA:280062 |
Kenny-Caffey Syndrome, Type 2 |
|
Hypoparathyroidism, Thickened cortex of long bones, Increased bone mineral density, Hypocalcemia,... |
OMIM:127000 |
Autoimmune Polyendocrinopathy Type 2 |
|
Hypoparathyroidism, Primary adrenal insufficiency, Hypogonadism, Type I diabetes mellitus, Abnorm... |
ORPHA:3143 |
Kenny-Caffey Syndrome, Type 1 |
|
Congenital hypoparathyroidism, Calvarial osteosclerosis, Hypomagnesemia, Decreased skull ossifica... |
OMIM:244460 |
Hypophosphatasia, Infantile |
|
Decreased calvarial ossification, Hypercalcemia, Death in infancy, Elevated urine pyrophosphate, ... |
OMIM:241500 |
Progressive Osseous Heteroplasia |
|
Osteoarthritis, Abnormality of the parathyroid gland, Ectopic ossification in muscle tissue, Limi... |
ORPHA:2762 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Generalized aminoaciduria, Renal sodium wasting, Hypokalemia, Increased urinary pot... |
ORPHA:3337 |
Beta-Thalassemia Intermedia |
|
Adrenal insufficiency, Hypoparathyroidism, Abnormality of iron homeostasis, Elevated hepatic iron... |
ORPHA:231222 |
Pseudohypoparathyroidism, Type Ic |
|
Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Hypogonadism, Pseudohypopara... |
OMIM:612462 |
Fanconi Renotubular Syndrome 5 |
|
Tubulointerstitial fibrosis, Hypophosphatemia, Stage 5 chronic kidney disease, Glycosuria, Aminoa... |
OMIM:618913 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal tubular atrophy, Nephrocalcinosis, Proximal tubulopathy, Tubulointerstitial fibrosis, Glome... |
OMIM:310468 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypercalcemia, Pancreatitis, Nephrolithiasis, Parathormone-independent increased renal tubular ca... |
OMIM:145981 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Elevated circulating parathyroid hormone level, Hypercalcemia, Hypercalciuria, Thyroid carcinoma,... |
ORPHA:99880 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Elevated circulating parathyroid hormone level, Generalized aminoaciduria, Thin bony cortex, Hypo... |
OMIM:264700 |
Familial Hypocalciuric Hypercalcemia |
|
Hypercalcemia, Hypocalcemic seizures, Hypomagnesiuria, Pancreatitis, Nephrolithiasis, Parathormon... |
ORPHA:405 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Generalized aminoaciduria, Rickets, Nephrocalcinosis, Renal tubular acidosis, ... |
ORPHA:2088 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Elevated circulating parathyroid hormone level, Generalized aminoaciduria, Thin bony cortex, Hypo... |
ORPHA:289157 |
Progressive Familial Intrahepatic Cholestasis |
|
Hypocalcemia, Reduced bone mineral density |
ORPHA:172 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Hypocalcemic seizures, Parathyroid hypoplasia, Diabetes mellitus, Hypocalcemia |
ORPHA:2237 |
Renal Tubular Acidosis, Distal, 1 |
|
Nephrocalcinosis, Renal tubular acidosis, Pathologic fracture, Hypocalcemia, Osteomalacia |
OMIM:179800 |
Cystinosis |
|
Renal tubular dysfunction, Hypokalemia, Rickets, Hypophosphatemia, Nephrogenic diabetes insipidus... |
ORPHA:213 |
Thymic Neuroendocrine Tumor |
|
Neuroendocrine neoplasm, Hypercalcemia, Calcium nephrolithiasis, Neoplasm of the thymus, Increase... |
ORPHA:97289 |
Parathyroid Carcinoma |
|
Elevated circulating parathyroid hormone level, Hypercalcemia, Thyroid carcinoma, Parathyroid car... |
ORPHA:143 |
Bartter Syndrome, Type 1, Antenatal |
|
Hypercalcemia, Renal salt wasting, Hyperactive renin-angiotensin system, Renal juxtaglomerular ce... |
OMIM:601678 |
Addison Disease |
|
Androgen insufficiency, Adrenal hypoplasia, Type I diabetes mellitus, Premature ovarian insuffici... |
ORPHA:85138 |
Pseudohypoparathyroidism, Type Ia |
|
Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Hypogonadism, Pseudohypopara... |
OMIM:103580 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Hypouricemia, Renal tubular dysfunction, Generalized aminoaciduria, Hypokalemi... |
OMIM:227810 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Hypoparathyroidism, Adrenocorticotropic hormone deficiency, Generalized bone demine... |
ORPHA:199299 |
Myopathy, Tubular Aggregate, 2 |
|
Elevated circulating creatine kinase concentration, Flexion contracture, Hypocalcemia |
OMIM:615883 |
Vitamin D-Dependent Rickets, Type 2A |
|
Elevated circulating parathyroid hormone level, Thin bony cortex, Hypocalcemic seizures, Rickets,... |
OMIM:277440 |
Hyperphosphatemia, Polyuria, And Seizures |
|
Hyperphosphatemia |
OMIM:239350 |
Mccune-Albright Syndrome |
|
Increased serum testosterone level, Renal tubular dysfunction, Goiter, Fibrous dysplasia of the b... |
ORPHA:562 |
Medullary Sponge Kidney |
|
Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria |
ORPHA:1309 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
2P21 Microdeletion Syndrome |
|
Hypogonadism, Nephrolithiasis, Cystinuria, Hypocalcemia |
ORPHA:163693 |
Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Hypokalemia, Decreased circulating renin level, Hyperaldosteronism, Hypercal... |
OMIM:613677 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Elevated circulating parathyroid hormone level, Renal tubular dysfunction, Hypophosphatemia, Rena... |
OMIM:307800 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Hypochloremia, Medullary nephrocalcinosis, Increased circulating renin... |
OMIM:300971 |
Hypercalcemia, Infantile, 1 |
|
Nephrocalcinosis, Nephrolithiasis, Infantile hypercalcemia, Hypercalciuria, Polyuria |
OMIM:143880 |
Mccune-Albright Syndrome |
|
Increased circulating cortisol level, Polyostotic fibrous dysplasia, Pathologic fracture, Pituita... |
OMIM:174800 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypercholesterolemia, Diabetes mellitus, Hypertriglyceridemia, Hypocalcemia |
OMIM:612526 |
Oncogenic Osteomalacia |
|
Hyperphosphaturia, Fibrous dysplasia of the bones, Increased susceptibility to fractures, Hypopho... |
ORPHA:352540 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
Hypomagnesemia 3, Renal |
|
Nephrocalcinosis, Renal tubular acidosis, Hematuria, Renal calcium wasting, Nephrolithiasis, Hypo... |
OMIM:248250 |
Autoimmune Polyendocrinopathy Type 1 |
|
Adrenal hyperplasia, Decreased circulating aldosterone level, Hypoparathyroidism, Increased circu... |
ORPHA:3453 |
Hyperparathyroidism, Primary, Caused By Water Clear Cell Hyperplasia |
|
Primary hyperparathyroidism |
OMIM:600166 |
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Nephrocalcinosis, Renal calcium wasting, Nephrolithiasis, Hypomagnesemia, Recurrent urinary tract... |
OMIM:248190 |
Juvenile Nephropathic Cystinosis |
|
Hypouricemia, Hyponatremia, Hypocalcemic tetany, Renal Fanconi syndrome, Hypokalemia, Proximal tu... |
ORPHA:411634 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Aminoaciduria, Hypokalemia, Rickets, Nephrocalcinosis, Proximal tubulopathy, I... |
ORPHA:18 |
Blue Diaper Syndrome |
|
Hypercalcemia, Abnormal circulating tryptophan concentration |
OMIM:211000 |
Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Cortical thickening of long bone diaphyses, Hyperphosphatemia, Congenital hypoparathyroidism, Hyp... |
ORPHA:93325 |
Hereditary Renal Hypouricemia |
|
Hypouricemia, Uric acid urolithiasis independent of gout, Abnormal renal physiology, Hematuria, D... |
ORPHA:94088 |
Oculoskeletodental Syndrome |
|
Hypercalcemia, Mucopolysacchariduria, Renal agenesis, Hypothyroidism, Hypocalcemia, Cryptorchidis... |
OMIM:618440 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Thin bony cortex, Rickets, Hypophosphatemia, Delayed epiphyseal ossification, Recurrent fractures... |
OMIM:600081 |
Osteopetrosis, Autosomal Dominant 3 |
|
Recurrent fractures, Hyperparathyroidism, Osteopenia |
OMIM:618107 |
Linear Verrucous Nevus Syndrome |
|
Hypophosphatemia, Abnormality of the kidney, Reduced bone mineral density |
ORPHA:2611 |
Hypercalciuria, Absorptive, 2 |
|
Hypercalciuria, Calcium oxalate nephrolithiasis |
OMIM:143870 |
Familial Hyperaldosteronism Type Iii |
|
Adrenal hyperplasia, Hypokalemia, Abnormal circulating renin, Glucocortocoid-insensitive primary ... |
ORPHA:251274 |
Infantile Nephropathic Cystinosis |
|
Renal Fanconi syndrome, Hyperphosphaturia, Renal tubular dysfunction, Hypokalemia, Rickets, Abnor... |
ORPHA:411629 |
Lymphedema-Hypoparathyroidism Syndrome |
|
Hypoparathyroidism, Renal insufficiency, Nephropathy |
OMIM:247410 |
Autosomal Dominant Hypocalcemia |
|
Nephrocalcinosis, Reduced bone mineral density, Hypomagnesemia, Hypocalcemia, Hypermagnesiuria, H... |
ORPHA:428 |
Helix Syndrome |
|
Hypokalemia, Xerostomia, Nephrolithiasis, Hypocalciuria, Hyperparathyroidism, Polyuria, Hypohidro... |
OMIM:617671 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypercalcemia, Hypoparathyroidism, Nephrocalcinosis, Abnormality of the urinary system, Renal dys... |
ORPHA:369837 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Decreased circulating aldosterone level, Adrenal insufficiency, Hypoparathyroidism, Nephrocalcino... |
OMIM:240300 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Hypoparathyroidism, Nephrotic syndrome, Nephrocalcinosis, Renal dysplasia, Unilateral renal dyspl... |
OMIM:146255 |
Albers-Schönberg Osteopetrosis |
|
Generalized osteosclerosis, Arthritis, Osteomyelitis, Mandibular osteomyelitis, Hypocalcemia, Rec... |
ORPHA:53 |
Alport Syndrome 1, X-Linked |
|
Glomerular basement membrane lamellation, Hypoparathyroidism, Nephrotic syndrome, Nephritis, Stag... |
OMIM:301050 |
Hypomagnesemia 2, Renal |
|
Hypokalemia, Hypomagnesemia, Hypocalciuria, Renal insufficiency, Renal magnesium wasting |
OMIM:154020 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating gamma-aminobutyric acid concentration, Hypocalcemia |
OMIM:619658 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Goiter, Polycystic ovaries, Neoplasm of the thyroid gland, Abnormal testis morphology, Hyperthyro... |
ORPHA:457059 |
Alpha-Heavy Chain Disease |
|
Premature ovarian insufficiency, Hypocalcemia |
ORPHA:100025 |
Fibrous Dysplasia Of Bone |
|
Thyroid carcinoma, Rickets, Fibrous dysplasia of the bones, Increased circulating cortisol level,... |
ORPHA:249 |
Kearns-Sayre Syndrome |
|
Renal Fanconi syndrome, Hypoparathyroidism, Renal tubular acidosis, Primary adrenal insufficiency... |
OMIM:530000 |
Bartter Syndrome, Type 3 |
|
Renal salt wasting, Hyperactive renin-angiotensin system, Hypokalemia, Increased urinary potassiu... |
OMIM:607364 |
Dominant Beta-Thalassemia |
|
Adrenal insufficiency, Hypoparathyroidism, Abnormality of iron homeostasis, Osteoporosis, Diabete... |
ORPHA:231226 |
Multiple Endocrine Neoplasia Type 2 |
|
Elevated circulating parathyroid hormone level, Hypercalcemia, Pheochromocytoma, Hypercalciuria, ... |
ORPHA:653 |
Pyknoachondrogenesis |
|
Increased bone mineral density, Stillbirth |
OMIM:265880 |
Hyperphosphatasia With Mental Retardation Syndrome 3 |
|
Hyperphosphatemia |
OMIM:614207 |
Nephropathy, Deafness, And Hyperparathyroidism |
|
Renal insufficiency, Hyperparathyroidism, Nephropathy, Parathyroid hyperplasia |
OMIM:256120 |
Pseudohypoparathyroidism Type 1C |
|
Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Calcinosis, Hypocalcemic sei... |
ORPHA:79444 |
Double Outlet Right Ventricle |
|
Hypoparathyroidism, Aplasia/Hypoplasia of the thymus, Hypocalcemia |
ORPHA:3426 |
Multiple Endocrine Neoplasia, Type Iia |
|
Pheochromocytoma, Elevated urinary epinephrine, Elevated urinary vanillylmandelic acid, Increased... |
OMIM:171400 |
Digeorge Syndrome |
|
Parathyroid agenesis, Cholelithiasis, Decreased circulating parathyroid hormone level, Parathyroi... |
OMIM:188400 |
Genetic Recurrent Myoglobinuria |
|
Hyperkalemia, Highly elevated creatine kinase, Exercise-induced myoglobinuria, Dark urine, Acute ... |
ORPHA:99845 |
Tubular Renal Disease-Cardiomyopathy Syndrome |
|
Hypocalcemic tetany, Nephrocalcinosis, Abnormal renal resorption, Hyperprostaglandinuria, Hypomag... |
ORPHA:73224 |
Hypotonia-Cystinuria Syndrome |
|
Hypergonadotropic hypogonadism, Nephrolithiasis, Cystinuria, Hypocalcemia, Decreased response to ... |
OMIM:606407 |
Bartter Syndrome, Type 2, Antenatal |
|
Renal salt wasting, Hyperactive renin-angiotensin system, Renal juxtaglomerular cell hypertrophy/... |
OMIM:241200 |
Multiple Endocrine Neoplasia, Type Iv |
|
Pancreatic endocrine tumor, Hashimoto thyroiditis, Pituitary adenoma, Carcinoid tumor, Primary hy... |
OMIM:610755 |
Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
|
Hypouricemia, Hypercalciuria |
OMIM:242050 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormality of renal excretion, Hyperphosphaturia, Craniosynostosis, Pseudo-fractures, Abnormal t... |
ORPHA:289176 |
Lipoid Congenital Adrenal Hyperplasia |
|
Hypospadias, Renal salt wasting, Congenital adrenal hyperplasia, Adrenogenital syndrome |
OMIM:201710 |
Multiple Endocrine Neoplasia Type 1 |
|
Thyroid carcinoma, Goiter, Increased circulating cortisol level, Insulinoma, Reduced bone mineral... |
ORPHA:652 |
Multiple Endocrine Neoplasia Type 4 |
|
Increased circulating cortisol level, Insulinoma, Fasting hyperinsulinemia, Renal angiomyolipoma,... |
ORPHA:276152 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Aminoaciduria, Hypokalemia, Nephrocalcinosis, Bicarbonate-wasting renal tubula... |
ORPHA:47159 |
Refractory Celiac Disease |
|
Hypoproteinemia, Osteoporosis, Hypophosphatemia, Hypocalcemia, Hypomagnesemia, Hypoalbuminemia |
ORPHA:398063 |
Beta-Thalassemia Major |
|
Adrenal insufficiency, Hypoparathyroidism, Abnormality of iron homeostasis, Osteoporosis, Diabete... |
ORPHA:231214 |
Osteopetrosis, Autosomal Recessive 1 |
|
Osteopetrosis, Craniosynostosis, Calvarial osteosclerosis, Pathologic fracture, Osteomyelitis, In... |
OMIM:259700 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyperkalemia, Hyponatremia, Congenital hypothyroidism, Renal salt wasting, Cryptorchidism, Precoc... |
OMIM:614736 |
Alport Syndrome 3, Autosomal Dominant |
|
Glomerular basement membrane lamellation, Nephrotic syndrome, Nephrocalcinosis, Glomerulonephriti... |
OMIM:104200 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 |
|
Medullary nephrocalcinosis, Hypercalciuria |
OMIM:617993 |
Osteopetrosis, Autosomal Recessive 5 |
|
Osteopetrosis, Hyperbilirubinemia, Stillbirth, Absence of renal corticomedullary differentiation,... |
OMIM:259720 |
Pearson Syndrome |
|
Adrenal insufficiency, Hypoparathyroidism, Hypokalemia, Lacticaciduria, Decreased response to gro... |
ORPHA:699 |
Bangstad Syndrome |
|
Increased circulating cortisol level, Polycystic ovaries, Abnormal testis morphology, Abnormality... |
ORPHA:1227 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Increased renal tubular phosphate reabsorption, Calcinosis, Nephrocalcinosis, Hyperostosis, Decre... |
OMIM:211900 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Hypocalcemia |
ORPHA:746 |
Hamamy Syndrome |
|
Hypoparathyroidism, Craniosynostosis, Cryptorchidism, Osteopenia |
OMIM:611174 |
Pseudohypoparathyroidism Type 1A |
|
Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Calcinosis, Hypocalcemic sei... |
ORPHA:79443 |
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance |
|
Renal salt wasting, Renal sodium wasting, Hypokalemia, Hypomagnesemia, Hypocalciuria, Renal potas... |
OMIM:612780 |
Igg4-Related Thyroid Disease |
|
Goiter, Nodular goiter, Abnormality of the pituitary gland, Euthyroid goiter, Thyrotoxicosis with... |
ORPHA:64744 |
Microlissencephaly-Micromelia Syndrome |
|
Fetal pyelectasis, Hypoparathyroidism, Abnormal calcium-phosphate regulating hormone level |
ORPHA:50810 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Nephrocalcinosis, Osteoporosis, Renal cyst, Osteopenia, Ureteral stenosis, Hypercalciuria |
OMIM:615398 |
Infantile Bartter Syndrome With Sensorineural Deafness |
|
Hyponatremia, Hyperactive renin-angiotensin system, Hypokalemia, Nephrocalcinosis, Increased urin... |
ORPHA:89938 |
Small Cell Carcinoma Of The Bladder |
|
Recurrent urinary tract infections, Hypercalcemia, Hematuria, Dysuria |
ORPHA:284400 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Ankylosis, Hydroxyprolinemia, Hydroxyprolinuria, Osteoporosis, Hyperuricemia, Increased bone mine... |
OMIM:239000 |
Primary Hyperoxaluria |
|
Hyperoxaluria, Nephrocalcinosis, Generalized osteosclerosis, Calcium oxalate nephrolithiasis, Hem... |
ORPHA:416 |
Autoimmune Polyendocrinopathy Type 3 |
|
Autoimmune hypoparathyroidism, Tubulointerstitial nephritis, Xerostomia, Osteopenia, Graves disea... |
ORPHA:227982 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyperkalemia, Decreased circulating aldosterone level, Hyponatremia, Increased circulating cortic... |
OMIM:610600 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Osteopetrosis, Hypocalcemia |
OMIM:618476 |
X-Linked Hypophosphatemia |
|
Rickets, Vertebral hyperostosis, Generalized osteosclerosis, Craniosynostosis, Hypophosphatemia, ... |
ORPHA:89936 |
Timothy Syndrome |
|
Hypothyroidism, Hypocalcemia |
OMIM:601005 |
Brain-Lung-Thyroid Syndrome |
|
Hypospadias, Hypoparathyroidism, Congenital hypothyroidism, Megacystis, Thyroid hemiagenesis, Ele... |
ORPHA:209905 |
Acrodysostosis With Multiple Hormone Resistance |
|
Elevated circulating parathyroid hormone level, Congenital hypothyroidism, Hypogonadism, Pseudohy... |
ORPHA:280651 |
Pendred Syndrome |
|
Thyroid carcinoma, Goiter, Hyperparathyroidism, Hypothyroidism, Nephropathy |
ORPHA:705 |
Osteopetrosis And Infantile Neuroaxonal Dystrophy |
|
Osteopetrosis, Death in infancy |
OMIM:600329 |
Eiken Syndrome |
|
Limited elbow flexion, Thin bony cortex, Delayed epiphyseal ossification, Abnormal trabecular bon... |
ORPHA:79106 |
Infantile Myofibromatosis |
|
Hypercalcemia, Bone cyst, Neoplasm of the pancreas, Limitation of joint mobility, Abnormality of ... |
ORPHA:2591 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hyperphosphaturia, Hypouricemia, Nephrocalcinosis, Rickets, Glycosuria, Diabetes mellitus, Aminoa... |
OMIM:616026 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Elevated circulating parathyroid hormone level, Congenital hypothyroidism, Decreased growth hormo... |
OMIM:101800 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Elevated circulating parathyroid hormone level, Generalized bone demineralization, Thin bony cort... |
OMIM:600785 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Renal dysplasia, Hypocalcemia, Hypomagnesemia, Hypertriglyceridemia, Hypothyroidism... |
OMIM:618183 |
Uremic Pruritus |
|
Hypercalcemia, Chronic kidney disease, Stage 5 chronic kidney disease, Increased blood urea nitro... |
ORPHA:94059 |
Primary Hypomagnesemia With Refractory Seizures And Intellectual Disability |
|
Episodic hypokalemia, Nephrocalcinosis, Hypomagnesemia, Renal potassium wasting, Renal magnesium ... |
ORPHA:564178 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Macronodular adrenal hyperplasia, Abnormal response to corticotropin releasing hormone stimulatio... |
ORPHA:189427 |
Melas |
|
Hypoparathyroidism, Focal segmental glomerulosclerosis, Type II diabetes mellitus, Proximal tubul... |
ORPHA:550 |
Granulomatous Slack Skin |
|
Hypercalcemia, Acute kidney injury, Nephrocalcinosis |
ORPHA:33111 |
Adrenal Hypoplasia, Congenital |
|
Decreased circulating aldosterone level, Adrenal insufficiency, Hyponatremia, Hypogonadotropic hy... |
OMIM:300200 |
East Syndrome |
|
Renal salt wasting, Renal sodium wasting, Hypokalemia, Hypomagnesemia, Hyperaldosteronism, Abnorm... |
ORPHA:199343 |
Multiple Endocrine Neoplasia, Type I |
|
Adrenocortical adenoma, Hypercalcemia, Adenoma sebaceum, Increased circulating cortisol level, In... |
OMIM:131100 |
Oculocerebrorenal Syndrome Of Lowe |
|
Death in infancy, Hypophosphatemia, Proximal renal tubular acidosis, Oligosacchariduria, Hyperald... |
ORPHA:534 |
Gitelman Syndrome |
|
Tubulointerstitial nephritis, Renal potassium wasting, Type I diabetes mellitus, Enuresis, Parath... |
ORPHA:358 |
Colchicine Poisoning |
|
Hyponatremia, Hypokalemia, Hypophosphatemia, Hypomagnesemia, Oliguria, Hypocalcemia, Renal insuff... |
ORPHA:31824 |
Hypervitaminosis A, Susceptibility To |
|
Hypercalcemia, Renal insufficiency |
OMIM:240150 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyperkalemia, Decreased circulating aldosterone level, Hyponatremia, Renal salt wasting, Increase... |
OMIM:203400 |
Zollinger-Ellison Syndrome |
|
Elevated circulating parathyroid hormone level, Neuroendocrine neoplasm, Increased urinary cortis... |
ORPHA:913 |
Pseudohypoaldosteronism, Type I, Autosomal Recessive |
|
Hyperkalemia, Hyponatremia, Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, Hypera... |
OMIM:264350 |
Ring Chromosome 10 Syndrome |
|
Renal hypoplasia/aplasia, Hypocalcemia |
ORPHA:1438 |
Velocardiofacial Syndrome |
|
Hypoparathyroidism, Cryptorchidism, Hypocalcemia |
OMIM:192430 |
Charge Syndrome |
|
Hypoparathyroidism, Hypogonadotropic hypogonadism, Hypocalcemia, Gonadotropin deficiency, Parathy... |
OMIM:214800 |
Gracile Bone Dysplasia |
|
Decreased skull ossification, Micropenis, Hypocalcemia |
OMIM:602361 |
Oculocerebrodental Syndrome |
|
Hypercalcemia, Nephrocalcinosis, Hypocalcemia |
ORPHA:557003 |
Thyrotoxic Periodic Paralysis |
|
Hyperkalemia, Thyrotoxicosis with toxic single thyroid nodule, Episodic hypokalemia, Urinary rete... |
ORPHA:79102 |
Osteopetrosis, Autosomal Dominant 1 |
|
Generalized osteosclerosis, Thickened cortex of long bones, Osteopetrosis, Calvarial osteosclerosis |
OMIM:607634 |
Lambert Syndrome |
|
Branchial anomaly |
ORPHA:1296 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Macroscopic hematuria, Hypercalcemia, Craniosynostosis, Proteinuria, Increased blood urea nitroge... |
ORPHA:251004 |
Neuroleptic Malignant Syndrome |
|
Hyperkalemia, Hyponatremia, Hypernatremia, Elevated circulating creatine kinase concentration, Hy... |
ORPHA:94093 |
Non-Functioning Paraganglioma |
|
Hypercalcemia, Episodic hyperhidrosis, Elevated urinary dopamine, Elevated urinary epinephrine, H... |
ORPHA:94080 |
Fanconi Renotubular Syndrome 3 |
|
Hyperphosphaturia, Rickets, Glycosuria, Aminoaciduria, Proteinuria |
OMIM:615605 |
Pseudopseudohypoparathyroidism |
|
Short neck, Pseudohypoparathyroidism, Delayed eruption of teeth |
OMIM:612463 |
Hypomagnesemia, Seizures, And Mental Retardation 2 |
|
Hypokalemia, Hypomagnesemia, Renal potassium wasting, Polyuria, Renal magnesium wasting |
OMIM:618314 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Renal salt wasting, Hypokalemia, Increased urinary potassium, Hypochloremia, Decrea... |
OMIM:613090 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Hypercalcemia, Elevated urinary norepinephrine, Hyperhidrosis, Pheochromocytoma, Proteinuria |
OMIM:171420 |
Osteopetrosis, Autosomal Dominant 2 |
|
Hip osteoarthritis, Generalized osteosclerosis, Osteopetrosis, Fractures of the long bones, Mandi... |
OMIM:166600 |
Verloove Vanhorick-Brubakk Syndrome |
|
Tarsal synostosis, Cryptorchidism, Abnormal localization of kidney, Abnormality of the parathyroi... |
ORPHA:3429 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hypoproteinemia, Hydronephrosis, Death in infancy, Thyroid lymphangiectasia, Micropenis, Pancreat... |
OMIM:235255 |
Gitelman Syndrome |
|
Hypokalemia, Hypomagnesemia, Hypocalciuria, Renal potassium wasting, Nocturia, Enuresis, Increase... |
OMIM:263800 |
Late-Onset Familial Hypoaldosteronism |
|
Hyperkalemia, Decreased circulating aldosterone level, Hyponatremia, Renal sodium wasting, Elevat... |
ORPHA:556037 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hashimoto thyroiditis, Hypoparathyroidism, Decreased response to growth hormone stimulation test |
OMIM:618223 |
Florid Cemento-Osseous Dysplasia |
|
Abnormal trabecular bone morphology, Mandibular osteomyelitis, Multiple bony cystic lesions, Abno... |
ORPHA:83451 |
Dubowitz Syndrome |
|
Hypospadias, Hypoparathyroidism, Hydronephrosis, Craniosynostosis, Cryptorchidism, Joint hyperfle... |
ORPHA:235 |
Raine Syndrome |
|
Hydronephrosis, Neonatal death, Hypophosphatemia, Arthrogryposis multiplex congenita, Increased b... |
OMIM:259775 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Hypospadias, Cryptorchidism, Micropenis, Hypocalcemia |
OMIM:607143 |
Osteopetrosis With Renal Tubular Acidosis |
|
Hydronephrosis, Elevated circulating creatine kinase concentration, Renal tubular acidosis, Osteo... |
ORPHA:2785 |
Celiac Disease, Susceptibility To, 1 |
|
Rickets, Osteoporosis, Thyroiditis, Type I diabetes mellitus, Hypocalcemia, Delayed puberty |
OMIM:212750 |
22Q11.2 Deletion Syndrome |
|
Hypospadias, Renal hypoplasia, Hypoparathyroidism, Hypoplasia of the thymus, Cholelithiasis, Arth... |
ORPHA:567 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Chronic kidney disease, Hyperuricemia, Hypomagnesemia, Proteinuria, Hyperechogenic ... |
OMIM:613845 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Xerostomia, Hypocalcemia, Hypokalemia, Hypomagnesemia |
OMIM:175500 |
Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
X-Linked Agammaglobulinemia |
|
Arthritis, Hypocalcemia, Osteomyelitis |
ORPHA:47 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Hypernatriuria, Decreased serum creatinine, Decreased circulating renin level |
OMIM:300539 |
Hereditary Fructose Intolerance |
|
Episodic hyperhidrosis, Chronic kidney disease, Hypophosphatemia, Hyperuricemia, Hypermagnesemia,... |
ORPHA:469 |
Hypokalemic Tubulopathy And Deafness |
|
Renal salt wasting, Increased circulating renin level, Hyperaldosteronism |
OMIM:619406 |
Hypophosphatasia |
|
Hypercalcemia, Recurrent fractures, Craniosynostosis |
ORPHA:436 |
Diffuse Neonatal Hemangiomatosis |
|
Renal insufficiency, Hypercalcemia, Renal hypoplasia/aplasia |
ORPHA:2123 |
Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Thin bony cortex |
ORPHA:75508 |
Early-Onset Familial Hypoaldosteronism |
|
Hyperkalemia, Decreased circulating aldosterone level, Hyponatremia, Renal sodium wasting, Elevat... |
ORPHA:556030 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Decreased prealbumin level, Tubulointerstitial nephritis, Nephrotic syndrome, Membranous nephropa... |
ORPHA:37042 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Renal salt wasting, Hypokalemia, Increased urinary potassium, Hypochloremia, Decrea... |
OMIM:602522 |
Malignant Hyperthermia Of Anesthesia |
|
Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise |
ORPHA:423 |
Medullary Thyroid Carcinoma |
|
Nodular goiter, Medullary thyroid carcinoma, Primary hyperparathyroidism, Elevated calcitonin, Hy... |
ORPHA:1332 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Abnormality of the Leydig cells, Elevated circulating follicle stimulating hormone level, Midshaf... |
ORPHA:289548 |
Familial Hypoaldosteronism |
|
Hyperkalemia, Decreased circulating aldosterone level, Adrenal insufficiency, Hyponatremia, Proxi... |
ORPHA:427 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Abnormality of the Leydig cells, Elevated circulating follicle stimulating hormone level, Midshaf... |
ORPHA:168558 |
Cholera |
|
Abnormality of renal excretion, Hyponatremia, Decreased urine output, Hypokalemia, Acute kidney i... |
ORPHA:173 |
Insulinoma |
|
Neuroendocrine neoplasm, Neoplasm of the adrenal gland, Hyperinsulinemic hypoglycemia, Fasting hy... |
ORPHA:97279 |
Fructose Intolerance, Hereditary |
|
Hyperphosphaturia, Transient aminoaciduria, Proximal tubulopathy, Hypophosphatemia, Hyperbilirubi... |
OMIM:229600 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Hyperphosphaturia, Medullary nephrocalcinosis, Hypophosphatemic rickets |
OMIM:613312 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Renal salt wasting, Adrenogenital syndrome, Hypospadias |
OMIM:201910 |
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Renal salt wasting, Adrenal insufficiency, Adrenocorticotropic hormone excess, Hyperaldosteronism |
OMIM:613743 |
Osteopetrosis, Autosomal Recessive 7 |
|
Death in infancy, Hypocalcemic seizures, Osteopetrosis, Abnormal trabecular bone morphology, Deat... |
OMIM:612301 |
Autosomal Dominant Polycystic Kidney Disease |
|
Pancreatic cysts, Pituitary growth hormone cell adenoma, Elevated circulating creatinine concentr... |
ORPHA:730 |
Familial Glucocorticoid Deficiency |
|
Hyperkalemia, Decreased circulating aldosterone level, Adrenal insufficiency, Testicular adrenal ... |
ORPHA:361 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Adrenal pheochromocytoma, Hypercalcemia, Extraadrenal pheochromocytoma, Episodic hyperhidrosis, E... |
ORPHA:276621 |
Opsismodysplasia |
|
Renal phosphate wasting, Hypophosphatemia |
OMIM:258480 |
Ppoma |
|
Adrenocortical adenoma, Hypercalcemia, Increased circulating cortisol level, Neoplasm of the panc... |
ORPHA:97278 |
Bacterial Toxic-Shock Syndrome |
|
Elevated circulating creatine kinase concentration, Elevated circulating creatinine concentration... |
ORPHA:36234 |
Rhabdoid Tumor |
|
Renal neoplasm, Hypercalcemia, Hematuria |
ORPHA:69077 |
Vipoma |
|
Adrenocortical adenoma, Hypercalcemia, Hypokalemia, Increased circulating cortisol level, Neoplas... |
ORPHA:97282 |
Autosomal Recessive Malignant Osteopetrosis |
|
Osteopetrosis, Craniosynostosis, Hypophosphatemia, Reduced bone mineral density, Hypocalcemia, Re... |
ORPHA:667 |
Maffucci Syndrome |
|
Neoplasm of the parathyroid gland, Ovarian neoplasm, Goiter, Neoplasm of the adrenal cortex, Pitu... |
ORPHA:163634 |
Familial Visceral Myopathy |
|
Megacystis, Hyperparathyroidism, Camptodactyly of finger, Vesicoureteral reflux, Joint stiffness,... |
ORPHA:2604 |
Glucose-Galactose Malabsorption |
|
Hypercalcemia, Hypernatremia, Hematuria, Nephrolithiasis, Renal insufficiency |
ORPHA:35710 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Hypercalcemia, Exercise-induced myoglobinuria, Elevated creatine kinase after exercise, Acute kid... |
ORPHA:284426 |
Grfoma |
|
Adrenocortical adenoma, Pheochromocytoma, Hypercalcemia, Neoplasm of the thymus, Increased circul... |
ORPHA:97261 |
Acute Adrenal Insufficiency |
|
Hyperkalemia, Decreased circulating aldosterone level, Hyponatremia, Androgen insufficiency, Hype... |
ORPHA:95409 |
Primary Intestinal Lymphangiectasia |
|
Hypomagnesemia, Hypoproteinemia, Hypocalcemia, Hypoalbuminemia |
ORPHA:90362 |
Adrenocortical Hypofunction, Chronic Primary Congenital |
|
Adrenal insufficiency, Hypernatriuria, Decreased circulating cortisol level |
OMIM:103230 |
MĂĽllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hypoproteinemia, Hydronephrosis, Micropenis, Pancreatic lymphangiectasis, Abnormal renal morpholo... |
ORPHA:1655 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula |
OMIM:609166 |
Proteus-Like Syndrome |
|
Hyperostosis, Polycystic ovaries, Thymus hyperplasia, Abnormality of the parathyroid gland |
ORPHA:2969 |
Apparent Mineralocorticoid Excess |
|
Decreased circulating aldosterone level, Hypokalemia, Decreased circulating renin level, Nephroca... |
ORPHA:320 |
Branchiootic Syndrome 3 |
|
Branchial cyst |
OMIM:608389 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyperkalemia, Decreased circulating aldosterone level, Increased serum testosterone level, Increa... |
ORPHA:90791 |
Somatostatinoma |
|
Adrenocortical adenoma, Hypercalcemia, Increased circulating cortisol level, Neoplasm of the panc... |
ORPHA:97283 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyperkalemia, Hyponatremia, Decreased urine output, Anuria, Pancreatitis, Septic arthritis, Acute... |
ORPHA:544482 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Hypophosphatemic rickets, Nephrocalcinosis |
OMIM:614473 |
Ethylene Glycol Poisoning |
|
Hyperkalemia, Renal tubular dysfunction, Decreased urine output, Hematuria, Renal tubular epithel... |
ORPHA:31826 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Adrenal pheochromocytoma, Hypercalcemia, Extraadrenal pheochromocytoma, Episodic hyperhidrosis, E... |
ORPHA:29072 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Thin bony cortex, Unconjugated hyperbilirubinemia, Rickets, Bile duct proliferation, Hypocalcemia... |
OMIM:613658 |
Williams Syndrome |
|
Synostosis of joints, Increased bone mineral density, Hypercalciuria, Abnormality of the bladder,... |
ORPHA:904 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypoproteinemia, Elevated circulating creatine kinase concentration, Increased circulating free f... |
ORPHA:26793 |
Beckwith-Wiedemann Syndrome |
|
Adrenocortical carcinoma, Adrenocortical cytomegaly, Ureteral duplication, Congenital megaureter,... |
ORPHA:116 |
Cartilage-Hair Hypoplasia |
|
Mucopolysacchariduria, Limited elbow extension, Hypocalcemia, Abnormal bone ossification, Abnorma... |
ORPHA:175 |
Cranioectodermal Dysplasia 1 |
|
Tubulointerstitial nephritis, Osteoporosis, Hypocalcemia, Chronic kidney disease, Sagittal cranio... |
OMIM:218330 |
Leprechaunism |
|
Central hypothyroidism, Hypokalemia, Long penis, Nephrocalcinosis, Enlarged ovaries, Hyperaldoste... |
ORPHA:508 |
Multiple Myeloma |
|
Hyperproteinemia, Hypercalcemia, Nephrotic syndrome, Elevated circulating creatinine concentratio... |
ORPHA:29073 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Renal tubular atrophy, Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nep... |
ORPHA:85450 |
Enamel-Renal Syndrome |
|
Nephrocalcinosis, Hypophosphaturia, Hypocalciuria, Impaired renal concentrating ability, Abnormal... |
ORPHA:1031 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Renal hypoplasia, Tubulointerstitial nephritis, Renal cortical atrophy, El... |
OMIM:174000 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Increased serum testosterone level, Increased circulating androstenedione concentration, Testicul... |
ORPHA:90795 |
X-Linked Mandibulofacial Dysostosis |
|
Branchial anomaly, Webbed neck, Cryptorchidism |
ORPHA:1131 |
Williams-Beuren Syndrome |
|
Micropenis, Diabetes mellitus, Enuresis, Hypercalciuria, Radioulnar synostosis, Hypercalcemia, Ne... |
OMIM:194050 |
Pheochromocytoma |
|
Hypercalcemia, Elevated urinary norepinephrine, Hyperhidrosis, Pheochromocytoma, Proteinuria, Ren... |
OMIM:171300 |
Exercise-Induced Malignant Hyperthermia |
|
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia |
ORPHA:466650 |
Sarcoidosis |
|
Hypercalcemia, Bone cyst, Tubulointerstitial nephritis, Diabetes insipidus, Nephrocalcinosis, Nep... |
ORPHA:797 |
Osteogenesis Imperfecta |
|
Fractures of the long bones, Increased susceptibility to fractures, Osteoporosis, Abnormal cortic... |
ORPHA:666 |
Visceral Steatosis, Congenital |
|
Neonatal death, Renal steatosis, Hypocalcemia |
OMIM:228100 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hypospadias, Hydronephrosis, Hyperbilirubinemia, Absent gallbladder, Micropenis, Hypocalcemia, Cr... |
ORPHA:163979 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Pseudohypoparathyroidism, Cryptorchidism, Abnormality of the endocrine system, Short neck |
ORPHA:464288 |
Craniometaphyseal Dysplasia |
|
Osteopetrosis, Craniofacial hyperostosis |
ORPHA:1522 |
Glucagonoma |
|
Adrenocortical adenoma, Hypercalcemia, Increased circulating cortisol level, Neoplasm of the panc... |
ORPHA:97280 |
Primary Unilateral Adrenal Hyperplasia |
|
Adrenal hyperplasia, Hypokalemia, Increased urinary potassium, Decreased circulating renin level,... |
ORPHA:231580 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Branchial cyst, Cryptorchidism |
ORPHA:435938 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Short neck, Pseudohypoparathyroidism |
OMIM:617157 |
Sarcoidosis, Susceptibility To, 1 |
|
Abnormal salivary gland morphology, Bone cyst, Arthritis, Hypercalciuria, Enlarged lacrimal glands |
OMIM:181000 |
Craniofacioskeletal Syndrome |
|
Hypospadias, Hydronephrosis, Absent gallbladder, Hypocalcemia, Cryptorchidism |
OMIM:300712 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Horseshoe kidney, Hyperphosphaturia, Osteopenia, Recurrent fractures, Precocious puberty, Hypopho... |
OMIM:163200 |
Osteopetrosis, Autosomal Recessive 2 |
|
Osteopetrosis, Diaphyseal sclerosis, Osteomyelitis, Mandibular osteomyelitis, Cranial hyperostosi... |
OMIM:259710 |
Hemorrhagic Fever-Renal Syndrome |
|
Hyperkalemia, Elevated circulating creatinine concentration, Hyperphosphatemia |
ORPHA:340 |
Osteopetrosis, Autosomal Recessive 8 |
|
Osteopetrosis |
OMIM:615085 |
Branchiootic Syndrome 1 |
|
Branchial fistula |
OMIM:602588 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Joint hypermobility, Renal dysplasia, Hypercalciuria, Nephrocalcinosis |
OMIM:300990 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Neoplasm of the adrenal gland, Hypokalemia, Decreased circulating renin level, Increased urinary ... |
ORPHA:231625 |
Mastocytosis |
|
Hypercalcemia, Recurrent fractures, Osteoporosis |
ORPHA:98292 |
Branchiootorenal Syndrome 1 |
|
Euthyroid goiter, Branchial fistula, Branchial cyst |
OMIM:113650 |
Hennekam Syndrome |
|
Horseshoe kidney, Craniosynostosis, Camptodactyly of finger, Hypocalcemia, Ectopic kidney |
ORPHA:2136 |
Branchiogenic Deafness Syndrome |
|
Branchial cyst, Branchial fistula |
ORPHA:50815 |
Osteopetrosis, Autosomal Recessive 4 |
|
Recurrent fractures, Osteopetrosis |
OMIM:611490 |
Rothmund-Thomson Syndrome Type 1 |
|
Calcinosis, Osteopenia, Hypogonadism, Abnormal trabecular bone morphology, Finger symphalangism, ... |
ORPHA:221008 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Osteopetrosis |
OMIM:617306 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Increased circulating progesterone, Increased serum testosterone level, Hyperactive renin-angiote... |
ORPHA:90794 |
Thymic Aplasia |
|
Hypocalcemic tetany, Aplasia of the thymus, Recurrent urinary tract infections, Thyroiditis, Hypo... |
ORPHA:83471 |
Multiple Endocrine Neoplasia, Type Iib |
|
Nodular goiter, Medullary thyroid carcinoma, Elevated calcitonin, Parathyroid hyperplasia, Pheoch... |
OMIM:162300 |
Birt-Hogg-Dubé Syndrome |
|
Parathyroid adenoma, Medullary thyroid carcinoma |
ORPHA:122 |
Johanson-Blizzard Syndrome |
|
Hypospadias, Hydronephrosis, Hypoplastic nipples, Increased VLDL cholesterol concentration, Ureth... |
OMIM:243800 |
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation |
|
Hypospadias, Exocrine pancreatic insufficiency, Hypercalciuria, Microscopic nephrocalcinosis |
OMIM:219721 |
Osteopetrosis, Autosomal Recessive 3 |
|
Cranial hyperostosis, Osteopetrosis, Diaphyseal sclerosis, Distal renal tubular acidosis |
OMIM:259730 |
Familial Primary Hypomagnesemia With Normocalciuria And Normocalcemia |
|
Hypomagnesemia, Hypermagnesiuria |
ORPHA:34527 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Hypophosphaturia, Osteopenia, Hypocalciuria, Hypoplastic sweat glands, Joint laxity |
ORPHA:73223 |
Rothmund-Thomson Syndrome Type 2 |
|
Calcinosis, Pathologic fracture, Abnormal trabecular bone morphology, Osteopenia, Finger symphala... |
ORPHA:221016 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Cystic hygroma, Branchial anomaly, Increased nuchal translucency, Hypothyroidism, Cryptorchidism |
ORPHA:453499 |
Rothmund-Thomson Syndrome |
|
Calcinosis, Increased susceptibility to fractures, Osteopenia, Abnormal trabecular bone morpholog... |
ORPHA:2909 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Osteopetrosis |
OMIM:612840 |
Lowe Oculocerebrorenal Syndrome |
|
Renal Fanconi syndrome, Hyperphosphaturia, Aminoaciduria, Rickets, Elevated maternal serum alpha-... |
OMIM:309000 |
Holoprosencephaly |
|
Diabetes insipidus, Branchial anomaly, Short neck, Panhypopituitarism, Diabetes mellitus, Anterio... |
ORPHA:2162 |
Microsporidiosis |
|
Adrenocortical abnormality, Prostatitis, Nephritis, Urethritis, Pancreatitis, Osteomyelitis, Thyr... |
ORPHA:2552 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Urinary urgency, Hip contracture, Thyroid hypoplasia, Pelvic kidney, Decreased response to growth... |
OMIM:619503 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Facial hyperostosis, Osteopetrosis, Increased bone mineral density, Coarse metaphyseal trabecular... |
ORPHA:2780 |
Cystic Fibrosis |
|
Exocrine pancreatic insufficiency, Hypercalciuria, Pancreatitis |
OMIM:219700 |
Senior-Boichis Syndrome |
|
Renal hypoplasia, Abnormal renal insterstitial morphology, Thickening of the tubular basement mem... |
ORPHA:84081 |
Tyrosinemia, Type I |
|
Renal Fanconi syndrome, Elevated urinary delta-aminolevulinic acid, Nephrocalcinosis, Hypertyrosi... |
OMIM:276700 |
Branchiootic Syndrome |
|
Branchial fistula |
ORPHA:52429 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Cystic hygroma, Branchial anomaly, Increased nuchal translucency, Hypothyroidism, Cryptorchidism,... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Cystic hygroma, Branchial anomaly, Increased nuchal translucency, Hypothyroidism, Cryptorchidism,... |
ORPHA:352665 |
Bor Syndrome |
|
Branchial cyst |
ORPHA:107 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Hypospadias, Abnormal penis morphology, Elbow ankylosis, Osteopetrosis, Abnormal cortical bone mo... |
ORPHA:2658 |
Lysosomal Acid Lipase Deficiency |
|
Hyperkalemia, Hyponatremia, Primary adrenal insufficiency, Hypercholesterolemia, Abnormal urine p... |
ORPHA:275761 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Hypercalcemia, Urinary incontinence |
ORPHA:476126 |
Treacher-Collins Syndrome |
|
Thyroid hypoplasia, Branchial fistula, Hypoplasia of the thymus, Abnormality of the adrenal gland... |
ORPHA:861 |
Hepatocellular Carcinoma |
|
Hyponatremia, Hypercalcemia, Type II diabetes mellitus, Hypokalemia, Hyperbilirubinemia, Hypoalbu... |
ORPHA:88673 |
Monosomy 13Q34 |
|
Fetal pyelectasis, Infantile hypercalcemia |
ORPHA:96168 |
Desmosterolosis |
|
Renal hypoplasia/aplasia, Osteopetrosis, Renal agenesis, Increased bone mineral density |
ORPHA:35107 |
Steinert Myotonic Dystrophy |
|
Testicular atrophy, Non-medullary thyroid carcinoma, Secondary hyperparathyroidism, Abnormality o... |
ORPHA:273 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction, Glycosuria, Aminoaciduria, ... |
OMIM:220110 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Branchial anomaly |
ORPHA:466950 |
Oligomeganephronia |
|
Branchial cyst |
ORPHA:2260 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction, Glycosuria, Aminoaciduria, ... |
ORPHA:436271 |
Tuberous Sclerosis Complex |
|
Pancreatic endocrine tumor, Pheochromocytoma, Renal cell carcinoma, Renal cyst, Stage 5 chronic k... |
ORPHA:805 |
Gaisböck Syndrome |
|
Hyperproteinemia, Nephrocalcinosis, Gout, Hyperuricemia, Hypercholesterolemia, Diabetes mellitus,... |
ORPHA:90041 |
Distal 22Q11.2 Microduplication Syndrome |
|
Branchial fistula, Low posterior hairline, Cryptorchidism, Webbed neck |
ORPHA:261337 |
Craniofacial Microsomia |
|
Branchial anomaly |
OMIM:164210 |
Sotos Syndrome |
|
Hypospadias, Ankle flexion contracture, Hypercalcemia, Ureteral duplication, Bilateral camptodact... |
ORPHA:821 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Branchial fistula |
ORPHA:261330 |
Branchiooculofacial Syndrome |
|
Ectopic thymus tissue, Branchial anomaly, Cryptorchidism, Low posterior hairline, Short neck, Sup... |
OMIM:113620 |
Generalized Arterial Calcification Of Infancy |
|
Abnormal calcification of the carpal bones, Hyperphosphaturia, Nephrocalcinosis, Pancreatic calci... |
ORPHA:51608 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Ectopic posterior pituitary, Spina bifida occulta, Short neck |
ORPHA:508488 |
Neurofibromatosis, Type I |
|
Parathyroid adenoma, Pheochromocytoma |
OMIM:162200 |