Pancreatic Cancer, Susceptibility To, 5 |
|
Melanoma, Pancreatic adenocarcinoma |
OMIM:618680 |
Hereditary Breast And/Or Ovarian Cancer Syndrome |
|
Neoplasm of the pancreas, Breast carcinoma, Ovarian neoplasm, Melanoma, Prostate cancer, Abnormal... |
ORPHA:145 |
Thyroid Cancer, Nonmedullary, 4 |
|
Ovarian neoplasm, Basal cell carcinoma, Papillary thyroid carcinoma, Prostate cancer, Goiter |
OMIM:616534 |
Pancreatic Cancer, Susceptibility To, 1 |
|
Pancreatic adenocarcinoma |
OMIM:606856 |
Pancreatic Cancer, Susceptibility To, 2 |
|
Neoplasm of the pancreas |
OMIM:613347 |
Serrated Polyposis Syndrome |
|
Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Schwannoma, Adenomatous ... |
ORPHA:157798 |
Melanoma-Pancreatic Cancer Syndrome |
|
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... |
OMIM:606719 |
Pancreatic Cancer |
|
Neoplasm of the pancreas |
OMIM:260350 |
Pheochromocytoma/Paraganglioma Syndrome 7 |
|
Pheochromocytoma, Paraganglioma |
OMIM:618475 |
Insulinoma Tumor Suppressor Gene Locus |
|
Insulinoma |
OMIM:606960 |
Ovarian Cancer |
|
Dysgerminoma, Ovarian papillary adenocarcinoma, Breast carcinoma |
OMIM:167000 |
Breast-Ovarian Cancer, Familial, Susceptibility To, 2 |
|
Breast carcinoma, Ovarian neoplasm |
OMIM:612555 |
Breast-Ovarian Cancer, Familial, Susceptibility To, 1 |
|
Breast carcinoma, Ovarian neoplasm |
OMIM:604370 |
Chemodectoma, Intraabdominal, With Cutaneous Angiolipomas |
|
Cutaneous angiolipomas, Retroperitoneal chemodectomas, Chemodectoma |
OMIM:118350 |
Breast-Ovarian Cancer, Familial, Susceptibility To, 3 |
|
Ovarian carcinoma, Breast carcinoma |
OMIM:613399 |
Familial Melanoma |
|
Neoplasm of the pancreas, Neoplasm of the stomach, Abnormal hair morphology, Melanoma, Neoplasm o... |
ORPHA:618 |
Tumor Predisposition Syndrome 1 |
|
Uveal melanoma, Renal cell carcinoma, Cutaneous melanoma, Malignant mesothelioma, Lung adenocarci... |
OMIM:614327 |
Li-Fraumeni Syndrome |
|
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... |
OMIM:151623 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Rhabdomyosarcoma, Embryonal, 2 |
|
Ovarian thecoma, Pleuropulmonary blastoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Nephr... |
OMIM:180295 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hypoglycemia |
OMIM:601820 |
Nut Midline Carcinoma |
|
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... |
ORPHA:443167 |
Maffucci Syndrome |
|
Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par... |
ORPHA:163634 |
Li-Fraumeni Syndrome |
|
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... |
ORPHA:524 |
Lung Cancer |
|
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma |
OMIM:211980 |
Carney Complex, Type 1 |
|
Elevated circulating growth hormone concentration, Cardiac myxoma, Pituitary adenoma, Palatine my... |
OMIM:160980 |
Lynch Syndrome 5 |
|
Neoplasm of the pancreas, Endometrial carcinoma, Ovarian neoplasm |
OMIM:614350 |
Schöpf-Schulz-Passarge Syndrome |
|
Alopecia, Ovarian neoplasm, Squamous cell carcinoma, Basal cell carcinoma, Sparse hair, Aplasia/H... |
ORPHA:50944 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Pancreatic adenocarcinoma, Hyperparathyroidism, Hurthle cell thyroid adenoma, Papillary renal cel... |
OMIM:145001 |
Schwannomatosis 2 |
|
Schwannoma, Spinal cord tumor |
OMIM:615670 |
Subependymoma |
|
Ependymoma, Spinal cord tumor, Ovarian neoplasm, Neoplasm of the lung, Neoplasm of the liver, Sup... |
ORPHA:251639 |
Ependymoma |
|
Ependymoma, Spinal cord tumor, Ovarian neoplasm, Neoplasm of the lung, Neoplasm of the liver, Sup... |
ORPHA:251636 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Hepatomegaly, Abnormal peritoneum morphology, Testicular neoplasm, Ileu... |
ORPHA:83469 |
Familial Adenomatous Polyposis 3 |
|
Endometrial carcinoma, Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Breast carcinoma... |
OMIM:616415 |
Gcgr-Related Hyperglucagonemia |
|
Neoplasm of the pancreas, Diabetes mellitus, Increased glucagon level, Cholelithiasis, Abnormal b... |
ORPHA:438274 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Adenomatous colonic polyp... |
ORPHA:454840 |
Carcinoid Tumors, Intestinal |
|
Intestinal carcinoid |
OMIM:114900 |
Medullary Thyroid Carcinoma |
|
Neoplasm of the skeletal system, Primary hyperparathyroidism, Abnormal liver parenchyma morpholog... |
ORPHA:1332 |
Infantile Myofibromatosis |
|
Benign neoplasm of the central nervous system, Neoplasm of the pancreas, Intestinal obstruction, ... |
ORPHA:2591 |
Pheochromocytoma/Paraganglioma Syndrome 5 |
|
Paraganglioma |
OMIM:614165 |
Ovarian Fibromata |
|
Ovarian fibroma |
OMIM:166970 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan... |
OMIM:168000 |
Paraganglioma And Gastric Stromal Sarcoma |
|
Paraganglioma |
OMIM:606864 |
Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... |
OMIM:147630 |
Pituitary Adenoma 5, Multiple Types |
|
Pituitary adenoma |
OMIM:617540 |
Gonadoblastoma |
|
Female external genitalia in individual with 46,XY karyotype, Hirsutism, Gonadal calcification, I... |
ORPHA:206484 |
Multiple Endocrine Neoplasia, Type Iia |
|
Hyperparathyroidism, Aganglionic megacolon, Thyroid C cell hyperplasia, Increased circulating cor... |
OMIM:171400 |
Premature Ovarian Failure 8 |
|
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... |
OMIM:615723 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Extraadrenal pheochromocytoma, Chemodectoma, Adrenal pheochromocytoma, Glomus jugular tumor, Para... |
OMIM:605373 |
Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pancreatic cysts, Pulmonary capillary hemangiomatosis, Spinal hemangiob... |
OMIM:193300 |
Thyroid Cancer, Nonmedullary, 1 |
|
Papillary thyroid carcinoma, Non-medullary thyroid carcinoma, Goiter |
OMIM:188550 |
Muir-Torre Syndrome |
|
Colonic diverticula, Malignant genitourinary tract tumor, Laryngeal carcinoma, Breast carcinoma, ... |
OMIM:158320 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Ovarian neoplasm, Fine hair, Macroglossia,... |
ORPHA:2221 |
Thyroid Dyshormonogenesis 3 |
|
Increased T3/T4 ratio, Compensated hypothyroidism, Thyroid carcinoma, Goiter |
OMIM:274700 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Astrocytoma, Multiple gastric polyps, Papillary thyroid carcinoma, Fibrosarco... |
ORPHA:247806 |
Tropical Calcific Pancreatitis |
|
Neoplasm of the pancreas, Insulin-dependent but ketosis-resistant diabetes, Pancreatic calcificat... |
OMIM:608189 |
Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
Familial Colorectal Cancer Type X |
|
Benign neoplasm of the central nervous system, Renal neoplasm, Pancreatic adenocarcinoma, Gliobla... |
ORPHA:440437 |
Familial Multinodular Goiter |
|
Hyperthyroidism, Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Multinodular... |
ORPHA:276399 |
Lynch Syndrome |
|
Benign neoplasm of the central nervous system, Glioblastoma multiforme, Pancreatic adenocarcinoma... |
ORPHA:144 |
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors |
|
Euthyroid multinodular goiter, Papillary thyroid carcinoma |
OMIM:138800 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Visceral angiomatosis, Ovarian neoplasm, Neoplasm of the breast, Hamartoma, Neoplasm of the thyro... |
ORPHA:137608 |
Peutz-Jeghers Syndrome |
|
Melanonychia, Neoplasm of the nose, Pancreatic adenocarcinoma, Intestinal obstruction, Stomach ca... |
ORPHA:2869 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Angiofibromas, Fasting hyperinsulinemi... |
ORPHA:276152 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Brain neoplasm, Metrorrhagia, Precocious puberty, Jaundice, Spinal cord... |
ORPHA:370348 |
Gardner Syndrome |
|
Duodenal polyposis, Brain neoplasm, Astrocytoma, Multiple gastric polyps, Papillary thyroid carci... |
ORPHA:79665 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Esophageal neoplasm, ... |
ORPHA:79501 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Thyroid Dyshormonogenesis 5 |
|
Hypothyroidism, Goiter |
OMIM:274900 |
Thyroid Dyshormonogenesis 4 |
|
Hypothyroidism, Goiter |
OMIM:274800 |
Thyroid Dyshormonogenesis 2A |
|
Decreased circulating T4 concentration, Hypothyroidism, Thyroid defect in oxidation and organific... |
OMIM:274500 |
Pituitary Carcinoma |
|
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... |
ORPHA:300385 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Maternal diabetes, Jaundice, Insulin-dependent but ketosis-resistant d... |
ORPHA:103918 |
Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Gastrointestinal stroma tumor, Glo... |
OMIM:115310 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Bile duct polyp, Rectal prolapse, Biliary tract abnormality, Multiple g... |
OMIM:175200 |
Thyroid Hormone Resistance, Generalized, Autosomal Dominant |
|
Increased circulating free T3, Increased circulating free T4 concentration, Impaired sensitivity ... |
OMIM:188570 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Neoplasm of head and neck, Goiter, Breast carcinoma, Papillary renal cell carcinoma, Papillary th... |
ORPHA:97290 |
Familial Pancreatic Carcinoma |
|
Pancreatic adenocarcinoma, Diabetes mellitus, Intestinal pseudo-obstruction, Jaundice, Breast car... |
ORPHA:1333 |
Lynch Syndrome 4 |
|
Endometrial carcinoma, Ovarian neoplasm |
OMIM:614337 |
Deiodinase, iodothyronine, type I |
|
Euthyroid hyperthyroxinemia, Goiter |
OMIM:147892 |
Thyroid Hormone Plasma Membrane Transport Defect |
|
Euthyroid hyperthyroxinemia, Goiter |
OMIM:188560 |
Familial Adenomatous Polyposis |
|
Duodenal polyposis, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Multiple ga... |
ORPHA:733 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Follicular thyroid carcinoma, Neoplasm of head and neck, Papillary renal cell carcinoma, Papillar... |
ORPHA:319487 |
Cowden Syndrome 1 |
|
Colonic diverticula, Hyperthyroidism, Goiter, Fibroadenoma of the breast, Thyroiditis, Breast car... |
OMIM:158350 |
Hyperparathyroidism 4 |
|
Primary hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia |
OMIM:617343 |
Fanconi Anemia, Complementation Group S |
|
Low anterior hairline, Breast carcinoma, Ovarian neoplasm, Narrow palate, Long eyelashes, Ovarian... |
OMIM:617883 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hyperparathyroidism, Hypercalcemia, Hypophosphatemic rickets, Elevated circulating parathyroid ho... |
OMIM:612089 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... |
ORPHA:52901 |
Carney Complex |
|
Neoplasm of the stomach, Hepatocellular carcinoma, Thyroid carcinoma, Papillary thyroid carcinoma... |
ORPHA:1359 |
Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Papilledema, Pancreatic islet cell adenoma, Pancreatic cysts, Pancreati... |
ORPHA:892 |
Parathyroid Carcinoma |
|
Hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia |
OMIM:608266 |
46,Xy Sex Reversal 6 |
|
Hypospadias, Sparse axillary hair, Hirsutism, Sex reversal, Gonadal dysgenesis, Chordee, Dysgermi... |
OMIM:613762 |
Fetal Iodine Deficiency Disorder |
|
Congenital goiter, Congenital hypothyroidism |
OMIM:228355 |
Tumor Predisposition Syndrome 2 |
|
Acute myeloid leukemia, Schwannoma, Adenomatous colonic polyposis, Uveal melanoma, Juvenile type ... |
OMIM:619975 |
Ppoma |
|
Neoplasm of the pancreas, Hepatomegaly, Intestinal obstruction, Elevated circulating growth hormo... |
ORPHA:97278 |
Frasier Syndrome |
|
Gonadal dysgenesis, Male pseudohermaphroditism, Primary amenorrhea, Ovarian gonadoblastoma |
OMIM:136680 |
46,Xy Sex Reversal 10 |
|
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... |
OMIM:616425 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hepatic steatosis, Hypoglycemia |
OMIM:261650 |
Lhermitte-Duclos Disease |
|
Fibroadenoma of the breast, Ovarian neoplasm, Macroglossia, Trichilemmoma, Neoplasm of the thyroi... |
ORPHA:65285 |
Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig... |
ORPHA:91351 |
Pendred Syndrome |
|
Compensated hypothyroidism, Thyroid carcinoma, Goiter |
OMIM:274600 |
Cowden Syndrome 7 |
|
Intestinal polyposis, Breast carcinoma, Trichilemmoma, Papillary thyroid carcinoma, Papilloma, He... |
OMIM:616858 |
Thymic Neuroendocrine Tumor |
|
Pituitary null cell adenoma, Pancreatic islet cell adenoma, Hypercalcemia, Neoplasm of the thymus... |
ORPHA:97289 |
Grfoma |
|
Neoplasm of the thymus, Pheochromocytoma, Hepatomegaly, Intermittent jaundice, Increased circulat... |
ORPHA:97261 |
Ovarian Fibroma |
|
Mesenteric cyst, Odontogenic keratocysts of the jaw, Ovarian fibroma, Peritonitis, Gonadal calcif... |
ORPHA:314473 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Polycystic ovaries, Hepati... |
ORPHA:79084 |
Goiter, Multinodular 2 |
|
Euthyroid multinodular goiter |
OMIM:300273 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Parathyroid hyperplasia, Elevated circulating parathyroid hormone level, Hypercalcemia, Hyperphos... |
OMIM:617994 |
Functioning Gonadotropic Adenoma |
|
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... |
ORPHA:91348 |
Somatostatinoma |
|
Neoplasm of the pancreas, Hepatomegaly, Intestinal obstruction, Diabetes mellitus, Elevated circu... |
ORPHA:97283 |
Hyperthyroidism, Nonautoimmune |
|
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating free T3, Thyr... |
OMIM:609152 |
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia |
OMIM:223500 |
Ectopic Aldosterone-Producing Tumor |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Ovarian neoplasm, Adrenocortical adenoma, ... |
ORPHA:231632 |
Vipoma |
|
Hepatomegaly, Follicular thyroid carcinoma, Intermittent jaundice, Neoplasm of the liver, Increas... |
ORPHA:97282 |
Chylous Ascites |
|
Neoplasm, Abnormal intestine morphology, Pancreatitis |
ORPHA:1160 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Polycystic liver disease, Polycystic kidney dysplasia, Polysplenia |
OMIM:211890 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Neoplasm of the pancreas, Decreased serum testosterone concentration, Alopecia, Premature ovarian... |
ORPHA:2959 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... |
ORPHA:251510 |
Werner Syndrome |
|
Abnormal hair whorl, Squamous cell carcinoma, Premature graying of hair, Neoplasm, Thyroid carcin... |
ORPHA:902 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:256450 |
Colorectal Cancer, Susceptibility To, 12 |
|
Colorectal polyposis, Carcinoma |
OMIM:615083 |
Familial Gestational Hyperthyroidism |
|
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... |
ORPHA:99819 |
Multiple Endocrine Neoplasia Type 2 |
|
Multiple mucosal neuromas, Cervical neoplasm, Paraganglioma of head and neck, Aganglionic megacol... |
ORPHA:653 |
Ovarian Fibrothecoma |
|
Diffuse leiomyomatosis, Ovarian fibroma, Metrorrhagia, Peritonitis, Abnormal endometrium morpholo... |
ORPHA:314478 |
Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... |
ORPHA:424 |
X-Linked Acrogigantism |
|
Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Elevated circulating growt... |
ORPHA:300373 |
Lipoid Congenital Adrenal Hyperplasia |
|
Congenital adrenal hyperplasia, Hypospadias, Adrenogenital syndrome |
OMIM:201710 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Male pseudoherm... |
ORPHA:90790 |
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Ambiguous genitalia, Congenital adrenal hyperplasia, Increased circulating ACTH level |
OMIM:613571 |
Multiple Endocrine Neoplasia, Type I |
|
Subcutaneous lipoma, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentra... |
OMIM:131100 |
Multiple Endocrine Neoplasia Type 1 |
|
Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancrea... |
ORPHA:652 |
Campomelia, Cumming Type |
|
Hepatomegaly, Multicystic kidney dysplasia, Myelodysplasia, Pancreatic cysts, Abnormality of the ... |
ORPHA:1318 |
Hypothyroidism, Congenital, Nongoitrous, 1 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Thyroid hypoplasi... |
OMIM:275200 |
Familial Isolated Hyperparathyroidism |
|
Hypercalcemia, Primary hyperparathyroidism, Elevated circulating parathyroid hormone level, Hypop... |
ORPHA:99879 |
Cowden Syndrome 6 |
|
Colonic diverticula, Hyperthyroidism, Goiter, Fibroadenoma of the breast, Thyroiditis, Breast car... |
OMIM:615109 |
Cancer-Associated Retinopathy |
|
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Testicular neoplasm, Hematological neoplasm,... |
ORPHA:71505 |
Intellectual Developmental Disorder, X-Linked 2 |
|
Macroorchidism, High palate |
OMIM:300428 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Pheochromocytoma, Hyperhidrosis |
OMIM:171420 |
Polyembryoma |
|
Abnormal peritoneum morphology, Abnormal circulating gonadotropin concentration, Neoplasm of head... |
ORPHA:180229 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia |
OMIM:609016 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Pheochromocytoma/Paraganglioma Syndrome 2 |
|
Vagal paraganglioma, Glomus tympanicum paraganglioma, Chemodectoma, Glomus jugular tumor, Neoplasm |
OMIM:601650 |
Pseudohypoparathyroidism, Type Ii |
|
Hypocalcemia, Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hyperphos... |
OMIM:203330 |
Blepharochalasis And Double Lip |
|
Goiter |
OMIM:109900 |
Glucagonoma |
|
Neoplasm of the pancreas, Hepatomegaly, Intestinal obstruction, Diabetes mellitus, Elevated circu... |
ORPHA:97280 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Peptic ulcer, Fibroma, Primary h... |
ORPHA:99880 |
Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Premature ovarian insufficiency, Secondary amenorrhea, Goiter |
OMIM:617175 |
Hyperparathyroidism 1 |
|
Primary hyperparathyroidism, Hypercalcemia |
OMIM:145000 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Adrenal hyperplasia, Decreased circulating ACTH concentration, Increased circulating cortisol lev... |
OMIM:219080 |
Spastic Paraplegia-Precocious Puberty Syndrome |
|
Hyperplasia of the Leydig cells, Precocious puberty in males |
ORPHA:2826 |
Cowden Syndrome |
|
Hamartomatous polyposis, Neoplasm of the central nervous system, Neoplasm, High palate, Papilloma... |
ORPHA:201 |
Mccune-Albright Syndrome |
|
Hyperthyroidism, Precocious puberty, Hepatitis, Ovarian cyst, Increased circulating cortisol leve... |
ORPHA:562 |
Multiple Endocrine Neoplasia, Type Iib |
|
Colonic diverticula, Aganglionic megacolon, High, narrow palate, Pheochromocytoma, High palate, E... |
OMIM:162300 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Peptic ulcer, Fibroma, Primary h... |
ORPHA:143 |
Carney Triad |
|
Gastrointestinal stroma tumor, Leiomyosarcoma, Adrenocortical adenoma, Pheochromocytoma, Paragang... |
ORPHA:139411 |
Zollinger-Ellison Syndrome |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Elevated circulating... |
ORPHA:913 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Hypospadias, Adrenogenital syndrome |
OMIM:201910 |
Phakomatosis Pigmentokeratotica |
|
Rhabdomyosarcoma, Precocious puberty, Cryptorchidism, Renal transitional cell carcinoma, Hyperhid... |
ORPHA:2874 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Absent pubic hair,... |
ORPHA:90793 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multinodular goiter |
ORPHA:2091 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... |
ORPHA:79299 |
Nephronophthisis 13 |
|
Pancreatic cysts, Hepatic cysts, Intrahepatic bile duct dilatation |
OMIM:614377 |
Meningioma |
|
Decreased circulating cortisol level, Neoplasm of the anterior pituitary, Reduced circulating pro... |
ORPHA:2495 |
Neuroendocrine Neoplasm Of Appendix |
|
Hepatomegaly, Mechanical ileus, Primary hypercortisolism, Midgut malrotation, Ovarian neoplasm, A... |
ORPHA:100079 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Goiter |
OMIM:600791 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Male pseudohermaphroditism, Primary amenorrhea, Adrenogenital syndrome, Ambi... |
OMIM:202110 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Intestinal malrotation, Portal hypertension, Malformation of t... |
OMIM:208540 |
Craniopharyngioma |
|
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu... |
ORPHA:54595 |
Rhabdoid Tumor |
|
Renal neoplasm, Hypercalcemia, Neoplasm of the central nervous system, Neoplasm of the liver, Sar... |
ORPHA:69077 |
Intellectual Developmental Disorder, X-Linked 14 |
|
Macroorchidism |
OMIM:300062 |
46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... |
OMIM:233420 |
Multiple Endocrine Neoplasia, Type Iv |
|
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... |
OMIM:610755 |
Cowden Syndrome 5 |
|
Colonic diverticula, Hyperthyroidism, Goiter, Thyroiditis, Breast carcinoma, Furrowed tongue, Ham... |
OMIM:615108 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Multiple pancreatic bet... |
ORPHA:79644 |
Granulomatous Slack Skin |
|
Lymphoma, Hypercalcemia, Hodgkin lymphoma |
ORPHA:33111 |
Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Hypercalcemia, Hemangiomatosis, Visceral angiomatosis, Abnormal vagina morphology |
ORPHA:2123 |
Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:403 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Abnormal hair morphology, Long penis, Oligozoospermia, Macr... |
ORPHA:3000 |
Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Retroperitoneal fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pitui... |
ORPHA:64744 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Increased circulating free T4 concentration, Diabetes mellitus, Elevated circulating thyroid-stim... |
OMIM:274300 |
Senior-Loken Syndrome 8 |
|
Pancreatic cysts, Hepatic cysts, Intrahepatic bile duct dilatation |
OMIM:616307 |
Familial Hyperaldosteronism Type Ii |
|
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:404 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Diabetes mellitus, Portal hypertension, Hiatus hernia, Pancreatic cysts, Splenomega... |
OMIM:610199 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia |
OMIM:240900 |
Bazex Syndrome |
|
Neoplasm, Lung adenocarcinoma, Liposarcoma |
ORPHA:166113 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Astrocytoma, Adenomatous colonic polyp... |
ORPHA:480536 |
Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries, Oligomenorrhea, Hirsutism, Amenorrhea |
OMIM:184700 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Primar... |
ORPHA:97279 |
Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testicular size, Male i... |
OMIM:619528 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Multiple small medullary renal... |
OMIM:263200 |
Thyroid Lymphoma |
|
Hyperthyroidism, Lymphoma, Hypothyroidism, Hashimoto thyroiditis, Goiter |
ORPHA:97285 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility, Parathyroid agenesis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Congenit... |
ORPHA:2239 |
Isolated Growth Hormone Deficiency, Type Ia |
|
Hypoglycemia, Prolonged neonatal jaundice |
OMIM:262400 |
Anaplastic Thyroid Carcinoma |
|
Neoplasm of the skeletal system, Tracheoesophageal fistula, Neoplasm of the lung, Malignant neopl... |
ORPHA:142 |
Tsh-Secreting Pituitary Adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis... |
ORPHA:91347 |
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
Short Stature Due To Partial Ghr Deficiency |
|
Hypoglycemia |
ORPHA:314802 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit... |
ORPHA:91350 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Episodic hyperhidrosis, Cranial ne... |
ORPHA:276621 |
Dyskeratosis Congenita |
|
White hair, Premature graying of hair, Neoplasm, Sparse hair, Hepatomegaly, Alopecia, Abnormal ey... |
ORPHA:1775 |
Thyroid Dyshormonogenesis 1 |
|
Hypothyroidism, Goiter |
OMIM:274400 |
Pheochromocytoma |
|
Hemangioma, Neoplasm, Pheochromocytoma, Hyperhidrosis |
OMIM:171300 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Decreased circulating dihydrotestosterone concentration, Secondary... |
OMIM:228300 |
Progressive Osseous Heteroplasia |
|
Abnormality of the parathyroid gland, Sarcoma |
ORPHA:2762 |
Laryngeal Neuroendocrine Tumor |
|
Neoplasm of the larynx, Adrenocorticotropic hormone excess, Increased serum serotonin, Elevated c... |
ORPHA:100083 |
Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
Tuberous Sclerosis Complex |
|
Angiofibromas, Pancreatic endocrine tumor, Subependymal giant-cell astrocytoma, Renal cyst, Pheoc... |
ORPHA:805 |
Tumor Predisposition Syndrome 4 |
|
Glioma, Breast carcinoma, Stomach cancer, Meningioma, Sarcoma |
OMIM:609265 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Hyperparathyroidism, Hypercalcemia |
ORPHA:2668 |
Perlman Syndrome |
|
Hepatomegaly, Cryptorchidism, High, narrow palate, Abnormal pancreas morphology, Hyperinsulinemia... |
ORPHA:2849 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Ambiguous genitalia, female, Ambiguous genitalia, male, Inc... |
ORPHA:90791 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Cryptorchidism, Primary amenorrhea, Cleft palate, Small pituitary gland, Micropenis, Decreased te... |
OMIM:614880 |
Neurofibromatosis, Type I |
|
Astrocytoma, Rhabdomyosarcoma, Neurofibroma, Optic nerve glioma, Pheochromocytoma, Meningioma, Pl... |
OMIM:162200 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Arachnoid hemangiomatosis, Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Episodi... |
ORPHA:29072 |
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, High palate, Small pituitary g... |
OMIM:612702 |
Hyperaldosteronism, Familial, Type I |
|
Adrenal hyperplasia, Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level |
OMIM:103900 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypospadias, Decreased response to growth hormone stimulation test, Adrenal hypoplasia, Hypercalc... |
OMIM:614732 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:606762 |
Fanconi Renotubular Syndrome 5 |
|
Emphysema, Lung adenocarcinoma, Pulmonary fibrosis |
OMIM:618913 |
Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Increas... |
OMIM:275000 |
Mahvash Disease |
|
Recurrent pancreatitis, Type II diabetes mellitus, Pancreatic alpha-cell hyperplasia, Increased g... |
OMIM:619290 |
Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Alopecia, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circul... |
ORPHA:3453 |
Cowden-Like syndrome |
|
Endometrial carcinoma, Uterine leiomyoma, Papillary thyroid carcinoma, Breast carcinoma |
OMIM:612359 |
Nephronophthisis-Like Nephropathy 1 |
|
Pancreatic cysts, Renal corticomedullary cysts, Chronic pancreatitis |
OMIM:613159 |
Pseudohypoparathyroidism, Type Ib |
|
Hypocalcemia, Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hyperphos... |
OMIM:603233 |
Lipase Deficiency, Combined |
|
Type II diabetes mellitus, Pancreatitis |
OMIM:246650 |
Ascher Syndrome |
|
High palate, Hypothyroidism, Goiter |
ORPHA:1253 |
Leydig Cell Hypoplasia |
|
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... |
ORPHA:755 |
Thyrocerebroretinal Syndrome |
|
Goiter |
OMIM:274240 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
Pituicytoma |
|
Decreased serum testosterone concentration, Decreased female libido, Pituicytoma, Decreased respo... |
ORPHA:251623 |
Glioma susceptibility 9 |
|
Renal neoplasm, Astrocytoma, Glioma, Neoplasm of the lung, Leukemia |
OMIM:616568 |
Bangstad Syndrome |
|
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Goiter |
OMIM:210740 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia |
ORPHA:366 |
Meckel Syndrome, Type 7 |
|
Multicystic kidney dysplasia, Portal hypertension, Pancreatic cysts, Patent ductus arteriosus, Bi... |
OMIM:267010 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hyperparathyroidism, Hypercalcemia, Hypermagnesemia, Parathyroid adenoma, Pancreatitis |
OMIM:145980 |
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Pilomatrixoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Multiple enchondromatosis, Adenoc... |
OMIM:620189 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Reduced circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone con... |
ORPHA:99832 |
Thyrocerebrorenal Syndrome |
|
Euthyroid goiter |
ORPHA:3327 |
Pendred Syndrome |
|
Hypothyroidism, Hyperparathyroidism, Thyroid carcinoma, Goiter |
ORPHA:705 |
Mental retardation, x-linked, syndromic, Turner type |
|
Macroorchidism |
OMIM:300706 |
Pancreatitis, Hereditary |
|
Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, Pleural effusion... |
OMIM:167800 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth... |
OMIM:613239 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant... |
ORPHA:90301 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Reduced circulating prolactin concentration |
OMIM:264120 |
Autosomal Dominant Polycystic Kidney Disease |
|
Polycystic liver disease, Pancreatic cysts, Renal cyst, Pyelonephritis, Pituitary growth hormone ... |
ORPHA:730 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Cleft palate, Hydrocele testis, Increased serum testosterone level, Congenital adrenal hyperplasi... |
ORPHA:96181 |
Pheochromocytoma/Paraganglioma Syndrome 6 |
|
Elevated circulating catecholamine level, Paraganglioma |
OMIM:618464 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hypoparathyroidism, Decreased circulating parathyroid hormone level, Hyperphosphatemia, Hypocalce... |
OMIM:146200 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Alopecia, Diabetes mellitus, Adrenal hyperplasia, Increased circulating cortisol level, Primary h... |
OMIM:615830 |
Growth Hormone Deficiency, Isolated Partial |
|
Small pituitary gland, Decreased response to growth hormone stimulation test |
OMIM:615925 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Prolonged neonata... |
ORPHA:95715 |
Estrogen Resistance Syndrome |
|
Abnormality of the pubic hair, Enlarged polycystic ovaries, Increased circulating gonadotropin le... |
ORPHA:785 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Micronodular cirrhosi... |
ORPHA:139507 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Hypoglycemia |
OMIM:615158 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hyperparathyroidism, Hypercalcemia |
OMIM:239199 |
Familial Thyroid Dyshormonogenesis |
|
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, El... |
ORPHA:95716 |
Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Increased circulating cortisol level, Adrenal hyperplasia |
OMIM:614190 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Neoplasm, Hypocalcemia |
ORPHA:172 |
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion |
|
Abnormal circulating calcium concentration, Abnormality of the parathyroid gland, Secondary hyper... |
ORPHA:140286 |
Legius Syndrome |
|
Acute monocytic leukemia, Non-small cell lung carcinoma, Neurofibroma, Desmoid tumors, Ovarian ne... |
ORPHA:137605 |
Xp22.13P22.2 Duplication Syndrome |
|
Polycystic ovaries, High palate, Sparse hair, Macroorchidism, High anterior hairline |
ORPHA:284180 |
Ciliary Dyskinesia, Primary, 37 |
|
Hypothyroidism, Female infertility, Goiter |
OMIM:617577 |
Central Precocious Puberty In Male |
|
Astrocytoma, Abnormality of the testis size, Craniopharyngioma, Pituitary microadenoma, Abnormali... |
ORPHA:649929 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Small Cell Carcinoma Of The Bladder |
|
Hypercalcemia, Bladder neoplasm |
ORPHA:284400 |
Glutaric Aciduria Iii |
|
Hyperthyroidism, Goiter |
OMIM:231690 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Hyperinsulinemia, Hyperhidrosis, Pancreatic islet-cell hyperplasia, Fastin... |
ORPHA:276608 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Partington Syndrome |
|
Macroorchidism |
ORPHA:94083 |
Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Macroorchidism |
OMIM:300238 |
Isochromosomy Yp |
|
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... |
ORPHA:98797 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Barrett esophagus, Multiple cutaneous leiomyomas, Vaginal neoplasm, Esophageal neoplasm, Papillar... |
ORPHA:523 |
Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Alopecia, Enlarged polycystic ovaries, Abnormal circulating leptin concentratio... |
ORPHA:2298 |
Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Splenomegaly, Abnormal lung morphology, Hepatosplenomegaly, Abnormal spleen mor... |
ORPHA:464329 |
Alveolar Echinococcosis |
|
Liver abscess, Pulmonary cyst, Cholangitis, Portal hypertension, Pancreatic cysts, Abnormal mesen... |
ORPHA:284 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Cardiomegaly |
OMIM:300886 |
Congenital Pancreatic Cyst |
|
Jaundice, Pancreatitis |
ORPHA:313906 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Neoplasm of the stomach, Pancreatoblastoma, Pituitary corticotropic cell ade... |
ORPHA:99889 |
Crouzon Syndrome |
|
High palate, Dysgerminoma |
OMIM:123500 |
Denys-Drash Syndrome |
|
True hermaphroditism, Nephroblastoma, Septate vagina, Gonadal tissue inappropriate for external g... |
OMIM:194080 |
Glycogen Storage Disease Vi |
|
Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia |
OMIM:232700 |
Megalencephaly |
|
Macroorchidism, Long penis |
ORPHA:2477 |
Rabson-Mendenhall Syndrome |
|
Enlarged ovaries, Thick hair, Precocious puberty, Hypothyroidism, Insulin-resistant diabetes mell... |
ORPHA:769 |
3-Methylglutaconic Aciduria Type 1 |
|
Hepatomegaly, Hypoglycemia |
ORPHA:67046 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Maternal diabetes, Episodic hyperhidrosis, Hyperinsulinemia, Hypoglycemic seizures,... |
ORPHA:276580 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Alopecia, Hypogonadotropic hypogonadism, Central adrenal insufficiency, Small pituitary gland, De... |
OMIM:612079 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo... |
OMIM:201810 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... |
ORPHA:488191 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Hypoglycemic seizures, Fasting hyperinsulinemia, Elevated circulating insulin:C-peptide ratio, Hy... |
OMIM:609968 |
Familial Adenomatous Polyposis 1 |
|
Duodenal polyposis, Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medullobla... |
OMIM:175100 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Gonadotropin deficiency,... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Gonadotropin deficiency,... |
ORPHA:71526 |
Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Pseudohypoparathyroidism, Elevated circulating parathyroid hormone level, Hyperphosph... |
ORPHA:94090 |
Muir-Torre Syndrome |
|
Renal neoplasm, Endometrial carcinoma, Laryngeal carcinoma, Neoplasm of the stomach, Salivary gla... |
ORPHA:587 |
17Q11.2 Microduplication Syndrome |
|
Macroorchidism, Sparse eyelashes, Sparse eyebrow |
ORPHA:139474 |
Asbestos Intoxication |
|
Atelectasis, Pleural thickening, Abnormal pulmonary interstitial morphology, Pulmonary fibrosis, ... |
ORPHA:2302 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Hepatic steatosis, Alopecia, Paradoxical increased cortisol sec... |
ORPHA:189427 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypercalcemia, Primary hyperparathyroidism, Hypermagnesemia, Multiple lipomas, Pancreatitis |
OMIM:145981 |
Full Schwannomatosis |
|
Neoplasm of the anterior pituitary, Bilateral vestibular schwannoma, Schwannoma, Peripheral schwa... |
ORPHA:93921 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Episodic hyperhidrosis, Hyperinsulinemia, Hypoglycemic seizures, Type I diabetes me... |
ORPHA:276575 |
Undifferentiated Pleomorphic Sarcoma |
|
Abnormal peritoneum morphology, Soft tissue sarcoma |
ORPHA:2023 |
Apert Syndrome |
|
Esophageal atresia, Cleft palate, Narrow palate, Ovarian neoplasm, Ectopic anus, Bifid uvula |
ORPHA:87 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Abnormal circulating hormone concentration, Polycystic ovaries, Insulin-resista... |
ORPHA:280356 |
Short Stature Due To Ghsr Deficiency |
|
Hypoglycemia |
ORPHA:314811 |
46,Xx Testicular Difference Of Sex Development |
|
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:393 |
Basal Cell Nevus Syndrome 1 |
|
Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyoma, Medulloblastoma, Hamartomatous ... |
OMIM:109400 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Recurrent respiratory infections, Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts... |
OMIM:208500 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Hypoglycemia |
OMIM:262700 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hyperthyroidism, Goiter |
OMIM:188580 |
Familial Hyperaldosteronism Type Iii |
|
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:251274 |
Benign Recurrent Intrahepatic Cholestasis |
|
Jaundice, Acholic stools, Cholestatic liver disease, Cirrhosis, Hepatocellular carcinoma, Choleli... |
ORPHA:65682 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... |
ORPHA:399805 |
Opsoclonus-Myoclonus Syndrome |
|
Ovarian teratoma, Small cell lung carcinoma, Breast carcinoma, Neoplasm of the lung, Melanoma, Ne... |
ORPHA:1183 |
Oncogenic Osteomalacia |
|
Neoplasm of the skeletal system, Neoplasm of head and neck, Neurofibroma, Carcinoma, Hypophosphat... |
ORPHA:352540 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Alopecia, Multinodular goiter, Squamous cell carcinoma, Nail dystrophy, Alopecia of scalp |
OMIM:618373 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... |
ORPHA:90796 |
Atkin-Flaitz Syndrome |
|
Macroorchidism |
ORPHA:1193 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Clark-Baraitser syndrome |
|
Macroorchidism, Exaggerated median tongue furrow |
OMIM:300602 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, P... |
ORPHA:731 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Macroorchidism, Synophrys |
OMIM:300143 |
Hepatic Adenomas, Familial |
|
Hepatocellular adenoma, Maturity-onset diabetes of the young, Polycystic ovaries |
OMIM:142330 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mel... |
ORPHA:435651 |
Vitamin D-Dependent Rickets, Type 3 |
|
Elevated circulating parathyroid hormone level, Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Macrog... |
ORPHA:226313 |
Linear Verrucous Nevus Syndrome |
|
Neoplasm of the central nervous system, Astrocytoma, Hypophosphatemia |
ORPHA:2611 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypercalcemia, Primary hyperparathyroidism, Hypermagnesemia, Multiple lipomas, Hypophosphatemia, ... |
OMIM:600740 |
Panhypophysitis |
|
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... |
ORPHA:95513 |
Neonatal Hemochromatosis |
|
Congenital hepatic fibrosis, Hypoglycemia, Prolonged neonatal jaundice |
ORPHA:446 |
Familial Adenomatous Polyposis 4 |
|
Duodenal polyposis, Astrocytoma, Gastric adenocarcinoma, Adenomatous colonic polyposis, Ovarian c... |
OMIM:617100 |
Cardiomyopathy, Dilated, 1R |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:613424 |
Fragile X Syndrome |
|
Macroorchidism, postpubertal, Congenital macroorchidism |
OMIM:300624 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... |
ORPHA:95699 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Recurrent upper respiratory tract infections, Hypoglycemia, Pancreatitis |
OMIM:620137 |
Orofaciodigital Syndrome I |
|
Hamartoma of tongue, Pancreatic cysts, Cleft palate, Tongue nodules, Ovarian cyst, Lobulated tong... |
OMIM:311200 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Ketotic hypoglycemia, Maternal diabetes, Maturity-onset diabetes of the young, Reac... |
ORPHA:324575 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Hypoglycemic seizures, Increased hepatic glycogen content, Neonatal hypo... |
ORPHA:293964 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Increased circulating androstenedione concentrati... |
OMIM:202010 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Hypoglycemia, Hepatic steatosis, Pancreatitis, Adrenal insufficiency |
OMIM:619386 |
Mitochondrial Complex I Deficiency, Nuclear Type 8 |
|
Optic disc pallor, Pancreatitis |
OMIM:618230 |
Adenohypophysitis |
|
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... |
ORPHA:95512 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:369929 |
Lujan-Fryns Syndrome |
|
Macroorchidism, High palate |
ORPHA:776 |
Reticulum Cell Sarcoma |
|
Neoplasm, Sarcoma |
OMIM:267730 |
Hereditary Chronic Pancreatitis |
|
Jaundice, Diabetes mellitus, Recurrent pancreatitis, Pancreatic calcification |
ORPHA:676 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Thyroid C cell hyperplasia |
OMIM:300952 |
Cutaneous Neuroendocrine Carcinoma |
|
Brain neoplasm, Lymphoid leukemia, Neoplasm of the outer ear, Basal cell carcinoma, Squamous cell... |
ORPHA:79140 |
Isolated Growth Hormone Deficiency, Type Iv |
|
Impaired growth-hormone response to insulin stimulation test, Decreased serum insulin-like growth... |
OMIM:618157 |
47,Xyy Syndrome |
|
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... |
ORPHA:8 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Sparse facial hair, Decreased serum estradiol, Aplasia of the ovary, Aplasia/hypoplasia of the ut... |
ORPHA:2232 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Frontal balding, Precocious puberty, Incre... |
ORPHA:786 |
Neurofibromatosis Type 1 |
|
Astrocytoma, Abnormality of the endocrine system, Cryptorchidism, Precocious puberty, Chronic mye... |
ORPHA:636 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Mody |
|
Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Hepatocellular adenoma... |
ORPHA:552 |
Birt-Hogg-Dubé Syndrome |
|
Parathyroid adenoma, Multiple lipomas, Renal cell carcinoma, Medullary thyroid carcinoma |
ORPHA:122 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Macronodular adrenal ... |
OMIM:615954 |
Teratoma, Ovarian |
|
Ovarian teratoma |
OMIM:166950 |
Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level |
OMIM:613677 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hepatomegaly, Hypercalcemia, Splenomegaly, Primary hyperparathyroidism, Elevated circ... |
OMIM:239200 |
Pituitary Adenoma 1, Multiple Types |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Irregular menstruation, Inc... |
OMIM:102200 |
X-Linked Intellectual Disability, Shashi Type |
|
Macroorchidism |
ORPHA:85286 |
Gallbladder Disease 1 |
|
Cholangitis, Portal inflammation, Jaundice, Cholestasis, Cholesterol gallstones, Bile duct prolif... |
OMIM:600803 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Hyponatremia, Decreased circulating cortisol level, Premature ovarian insuffi... |
ORPHA:199299 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:3077 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Pituitary hy... |
ORPHA:90674 |
Alpha-Heavy Chain Disease |
|
Splenomegaly, Hepatomegaly, Lymphoma, Hypocalcemia |
ORPHA:100025 |
Genetic Transient Congenital Hypothyroidism |
|
Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of... |
ORPHA:226316 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Astrocytoma, Insulin-resistant diabetes mellitus, Lymphoma, Hyp... |
ORPHA:79086 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... |
OMIM:610475 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Reduced radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentration... |
ORPHA:90673 |
Orofaciodigital Syndrome Type 1 |
|
Multicystic kidney dysplasia, Hamartoma of tongue, Pancreatic cysts, Abnormality of the pancreas,... |
ORPHA:2750 |
Opitz Gbbb Syndrome |
|
Bifid scrotum, Enlarged ovaries, Hypospadias, Cryptorchidism, Widow's peak, Tracheoesophageal fis... |
ORPHA:2745 |
Fibrous Dysplasia Of Bone |
|
Hyperthyroidism, Precocious puberty in females, Diabetes mellitus, Elevated circulating growth ho... |
ORPHA:249 |
Isochromosomy Yq |
|
Decreased testicular size, Male infertility, Gonadal tissue inappropriate for external genitalia ... |
ORPHA:98798 |
Fragile X Syndrome |
|
Macroorchidism |
ORPHA:908 |
Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increased circulating... |
ORPHA:1227 |
Juvenile Polyposis Syndrome |
|
Neoplasm of the pancreas, Small intestinal polyposis, Juvenile gastrointestinal polyposis, Juveni... |
ORPHA:2929 |
Pseudohypoparathyroidism, Type Ic |
|
Elevated circulating thyroid-stimulating hormone concentration, Pseudohypoparathyroidism, Elevate... |
OMIM:612462 |
Non-Functioning Paraganglioma |
|
Paraganglioma of head and neck, Hypercalcemia, Paraganglioma |
ORPHA:94080 |
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Optic nerve hypoplasia, Aplasia/Hypoplasia of the p... |
ORPHA:65288 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Hyperglycemia |
OMIM:608600 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, In... |
ORPHA:289548 |
Addison Disease |
|
Hypoparathyroidism, Hyponatremia, Decreased circulating cortisol level, Primary testicular failur... |
ORPHA:85138 |
17Q11 Microdeletion Syndrome |
|
Multiple mucosal neuromas, Brain neoplasm, Abnormal lung morphology, Elevated circulating parathy... |
ORPHA:97685 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Increased circulating ren... |
ORPHA:168558 |
Developmental And Epileptic Encephalopathy 108 |
|
Small pituitary gland |
OMIM:620115 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal stroma tumor, Intestinal obstruction, Neurofibroma |
OMIM:606764 |
Refractory Celiac Disease |
|
Hypomagnesemia, Lymphoma, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia, Abnor... |
ORPHA:398063 |
Primary Unilateral Adrenal Hyperplasia |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Decreased circulating... |
ORPHA:231580 |
Cheilitis Glandularis |
|
Abnormal salivary gland morphology, Neoplasm, Squamous cell carcinoma |
ORPHA:1221 |
Xp22.3 Microdeletion Syndrome |
|
Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries, Ect... |
ORPHA:1643 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Small scrotum, External genital hypoplasia, Xerostomia, Clitoral hypoplasia, Premature adrenarche... |
ORPHA:398079 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Macroorchidism, Male hypogonadism, High palate |
OMIM:300055 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
Gitelman Syndrome |
|
Neoplasm of the pancreas, Maternal diabetes, Diabetic ketoacidosis, Type I diabetes mellitus, Typ... |
ORPHA:358 |
Ataxia-Telangiectasia |
|
Hypopigmentation of hair, Diabetes mellitus, Polycystic ovaries, Premature graying of hair, Neopl... |
ORPHA:100 |
Low Phospholipid-Associated Cholelithiasis |
|
Liver abscess, Diabetes mellitus, Cholangitis, Intrahepatic cholestasis, Biliary cirrhosis, Neopl... |
ORPHA:69663 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Reactive hypoglycemia, Episodic hyperhidrosis, Hypoglycemic seizures, Recurrent hyp... |
ORPHA:276556 |
Ovarian Hyperstimulation Syndrome |
|
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... |
ORPHA:64739 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Macroorchidism, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone... |
ORPHA:85327 |
Carney-Stratakis Syndrome |
|
Gastrointestinal stroma tumor, Intestinal obstruction, Paraganglioma |
ORPHA:97286 |
Familial Hyperprolactinemia |
|
Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea |
ORPHA:397685 |
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Primary amenorrhe... |
OMIM:614840 |
Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Astrocytoma, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic p... |
ORPHA:220460 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Cutaneous leiomyosarcoma, Multiple cutaneous leiomyomas, Uterine leiomyoma, Uterine leiomyosarcom... |
OMIM:150800 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Elevated circulating parathyroid hormone level, Hypocalcemia, Secondary hyperparathyroidism, Hypo... |
OMIM:264700 |
Sheehan Syndrome |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Abnormal size ... |
ORPHA:91355 |
Estrogen Resistance |
|
Increased circulating osteocalcin level, Impaired glucose tolerance, Acne, Hyperinsulinemia, Incr... |
OMIM:615363 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
Systemic Capillary Leak Syndrome |
|
Pericarditis, Myocarditis, Multiple myeloma, Pleural effusion, Pancreatitis, Pulmonary edema |
ORPHA:188 |
Diarrhea 13 |
|
Recurrent hypoglycemia, Hepatic steatosis |
OMIM:620357 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Diabetes mellitus, Maternal diabetes, Splenomegaly, Insulin-resistant diabetes mell... |
ORPHA:79083 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... |
OMIM:619326 |
Meckel Syndrome |
|
Accessory spleen, Multicystic kidney dysplasia, Pancreatic fibrosis, Aplasia/Hypoplasia of the to... |
ORPHA:564 |
Blue Diaper Syndrome |
|
Decreased circulating T4 concentration, Elevated circulating thyroid-stimulating hormone concentr... |
ORPHA:94086 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia |
ORPHA:35878 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
Cog2-Cdg |
|
Small pituitary gland |
ORPHA:435934 |
Duodenal Atresia |
|
Abnormality of the pancreas, Annular pancreas, Abnormality of the pulmonary artery, Duodenal atresia |
ORPHA:1203 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Hyperparathyroidism, Hypocalcemia, Hypophosphatemia |
ORPHA:93160 |
Aromatase Deficiency |
|
Macroorchidism, postpubertal, Male infertility, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
Atypical Werner Syndrome |
|
Abnormal hair whorl, Fasting hyperinsulinemia, Premature graying of hair, Neoplasm of the breast,... |
ORPHA:79474 |
Congenital Disorder Of Glycosylation, Type Iiq |
|
Small pituitary gland |
OMIM:617395 |
Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Vaginal neoplasm, Soft tissue neoplasm, Reduced C-peptide level, ... |
ORPHA:2126 |
Hypothyroidism, Congenital, Nongoitrous, 9 |
|
Decreased circulating free T4 concentration, Inappropriately normal thyroid-stimulating hormone l... |
OMIM:301035 |
Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Insulin-resistant diabetes mellitus, Insulin resistance, Hyperinsulinemia, Pol... |
OMIM:604367 |
Rudiger Syndrome |
|
Ovarian cyst, Micropenis, Bicornuate uterus |
OMIM:268650 |
Leprechaunism |
|
Hepatomegaly, Enlarged ovaries, Overgrowth of external genitalia, Labial hypertrophy, Long penis,... |
ORPHA:508 |
Endocardial Fibroelastosis |
|
Cryptorchidism, Anterior hypopituitarism, Hypoglycemia |
ORPHA:2022 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Abnormal external genitalia, Hyperkalemia, Abnormal circulating corticosterone leve... |
ORPHA:556037 |
Blue Diaper Syndrome |
|
Abnormal circulating tryptophan concentration, Hypercalcemia |
OMIM:211000 |
Ewing Sarcoma |
|
Ewing sarcoma |
OMIM:612219 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hypothyroidism, Hashimoto thyroiditis, Goiter |
ORPHA:83601 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Diabetes mellitus, Splenomegaly, Insulin resistance, Polycystic ovaries, Hepatic st... |
ORPHA:2348 |
Oculoskeletodental Syndrome |
|
Hepatomegaly, Hypercalcemia, Cryptorchidism, Splenomegaly, Hypocalcemia, Hypothyroidism |
OMIM:618440 |
Dicarboxylic Aminoaciduria |
|
Fasting hypoglycemia |
OMIM:222730 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice |
OMIM:243300 |
Ring Chromosome Y Syndrome |
|
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... |
ORPHA:261529 |
Pleuropulmonary Blastoma |
|
Medulloblastoma, Pleuropulmonary blastoma, Rhabdomyosarcoma |
OMIM:601200 |
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Recurrent cutaneous abscess formation, Perifolliculitis, Squamous cell carcinoma, Chronic furuncu... |
OMIM:613736 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypoparathyroidism, Hypercalcemia, Hypophosphatemia |
OMIM:156400 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:66628 |
Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Abnormal external genitalia, Hyperkalemia, Abnormal circulating corticosterone leve... |
ORPHA:556030 |
Propionic Acidemia |
|
Hepatomegaly, Hypoglycemia |
ORPHA:35 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Polycystic ovaries, Type II dia... |
ORPHA:3085 |
Steinert Myotonic Dystrophy |
|
Brain neoplasm, Intestinal pseudo-obstruction, Decreased response to growth hormone stimulation t... |
ORPHA:273 |
Glioma Susceptibility 3 |
|
Acute myeloid leukemia, Glioblastoma multiforme, Astrocytoma, B Acute Lymphoblastic Leukemia, Med... |
OMIM:613029 |
Vitamin D-Dependent Rickets, Type 2A |
|
Hypocalcemic seizures, Elevated circulating parathyroid hormone level, Secondary hyperparathyroid... |
OMIM:277440 |
Pediatric-Onset Graves Disease |
|
Hepatomegaly, Puberty and gonadal disorders, Splenomegaly, Jaundice, Thyrotoxicosis with diffuse ... |
ORPHA:525731 |
Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
Gastrointestinal Stromal Tumor |
|
Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal stroma tumor, Esophageal neopla... |
ORPHA:44890 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Decreased circulating parathyroid hormone... |
OMIM:618883 |
Familial Isolated Hypoparathyroidism |
|
Hypoparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Hypo... |
ORPHA:2238 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:179494 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Hypoglycemia |
ORPHA:664 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Diabetes mellitus, Hepatic steatosis, Hirsutism, Polycystic ovaries |
OMIM:608709 |
Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... |
OMIM:225250 |
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Adrenocorti... |
ORPHA:231720 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ... |
OMIM:241410 |
Obesity And Hypopigmentation |
|
Hyperinsulinemia, Hepatic steatosis |
OMIM:620195 |
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Aplasia/Hypoplasia of the testes |
ORPHA:3055 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Sparse eyelashes, Hypospadias, Sparse eyebrow, Bilateral cleft lip and palate, High palate, Macro... |
OMIM:618874 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Optic atrophy, Pancreatitis |
ORPHA:289916 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Meckel diverticulum, Diabetes mellitus, Jejunal atresia, Intestinal malrotati... |
OMIM:615710 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Splenomegaly, Hepatomegaly, Optic atrophy, Pancreatitis |
ORPHA:79312 |
Hypercalcemia, Infantile, 2 |
|
Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
Prader-Willi Syndrome |
|
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... |
ORPHA:739 |
Pancreas, Annular |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
Annular Pancreas |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
Polyendocrine-Polyneuropathy Syndrome |
|
Decreased testicular size, Alopecia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia... |
ORPHA:453533 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Macroorchidism, Protruding tongue, Cardiomegaly |
ORPHA:324410 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Hepatomegaly, Recurrent respiratory infections, Cholangitis, Pancreatic cysts, Congenital hepatic... |
OMIM:266920 |
Isolated Growth Hormone Deficiency, Type Ii |
|
Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te... |
OMIM:173100 |
Autoimmune Hypoparathyroidism |
|
Autoimmune hypoparathyroidism, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic... |
ORPHA:36913 |
Polymerase Proofreading-Related Adenomatous Polyposis |
|
Endometrial carcinoma, Brain neoplasm, Adenomatous colonic polyposis, Breast carcinoma, Neoplasm ... |
ORPHA:447877 |
Rhabdoid Tumor Predisposition Syndrome 1 |
|
Medulloblastoma, Choroid plexus carcinoma |
OMIM:609322 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Elevated circulating parathyroid hormone level, Hypocalcemia, Secondary hyperparathyroidism, Hypo... |
ORPHA:289157 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Decreased thyroid-stimulating hormone level, Anterior pituitary hypoplasia, Reduced circulating p... |
OMIM:613038 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Hepatic steatosis, Pancreatitis |
OMIM:618805 |
Retinitis Pigmentosa |
|
Optic atrophy, Hyperinsulinemia, Hypogonadism, Type II diabetes mellitus, Abnormal testis morphology |
ORPHA:791 |
Monosomy 9Q22.3 |
|
Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyosarcoma, Medulloblastoma, Cardiac f... |
ORPHA:77301 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... |
OMIM:612158 |
Pseudohypoparathyroidism, Type Ia |
|
Pseudohypoparathyroidism, Elevated circulating parathyroid hormone level, Hypogonadism, Hyperphos... |
OMIM:103580 |
Orthostatic Hypotension 2 |
|
Hypoglycemia |
OMIM:618182 |
Pituitary Hormone Deficiency, Combined, 3 |
|
Anterior hypopituitarism, Gonadotropin deficiency, Decreased response to growth hormone stimulati... |
OMIM:221750 |
Acth Deficiency, Isolated |
|
Cholestasis, Jaundice, Fasting hypoglycemia, Adrenocorticotropic hormone deficiency |
OMIM:201400 |
Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Diabetic ketoacidosis, Pancreatitis, Pulmonary edema |
ORPHA:70578 |
Ane Syndrome |
|
Decreased serum insulin-like growth factor 1, Alopecia, Hypogonadotropic hypogonadism, Anterior p... |
ORPHA:157954 |
Glycogen Storage Disease Ixb |
|
Splenomegaly, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia |
OMIM:261750 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti... |
OMIM:262190 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... |
ORPHA:399808 |
Culler-Jones Syndrome |
|
Ectopic posterior pituitary, Hypopituitarism, Anterior pituitary hypoplasia, Cryptorchidism, Clef... |
OMIM:615849 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Hypothalamic luteinizing hormone-releasing hormone deficiency, Hypopigmentation of hair, Small sc... |
ORPHA:398069 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
Epidermodysplasia Verruciformis, Susceptibility To, 3 |
|
Basal cell carcinoma, Verrucae, Squamous cell carcinoma |
OMIM:618267 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Hypoglycemia, Splenomegaly, Bile duct proliferation, Cirrhosis, Fasting hypoglycemi... |
OMIM:613027 |
Hemochromatosis, Neonatal |
|
Hypoglycemia, Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Prolonged neonat... |
OMIM:231100 |
Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... |
OMIM:615373 |
Martinez-Frias Syndrome |
|
Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Ex... |
OMIM:601346 |
Donohue Syndrome |
|
Precocious puberty, Hyperinsulinemia, Cholestasis, Ovarian cyst, Hepatic fibrosis, Pancreatic isl... |
OMIM:246200 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries |
ORPHA:2229 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Splenomegaly, Delayed puberty, Gout, Inflammatio... |
OMIM:232220 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Increased circulating corticosterone level, Increased circulating 18-hydroxycortiso... |
OMIM:610600 |
Proteus Syndrome |
|
Thymus hyperplasia, Testicular neoplasm, Retinal hamartoma, Neoplasm of the thymus, Enlarged poly... |
ORPHA:744 |
Leiomyoma, Uterine |
|
Uterine leiomyoma |
OMIM:150699 |
Hypercalcemia, Infantile, 1 |
|
Hypercalcemia, Decreased circulating parathyroid hormone level |
OMIM:143880 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Fine hair, Polycystic ovaries |
ORPHA:2228 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Congenital hypoparathyroidism, Hypocalcemia, Hypocalcemic seizures |
ORPHA:93324 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Iridocyclitis, Hypogonadism, Type II diabetes mellitus, Type I diabetes mellitus, Delayed menarch... |
ORPHA:412057 |
Carcinoid Syndrome |
|
Hepatic necrosis, Pulmonary carcinoid tumor, Small intestine carcinoid, Paraganglioma, Intestinal... |
ORPHA:100093 |
Thrombocytopenia-Absent Radius Syndrome |
|
Facial capillary hemangioma, Pancreatic cysts, Seborrheic dermatitis, Patent ductus arteriosus, C... |
OMIM:274000 |
Calciphylaxis |
|
Hyperphosphatemia, Secondary hyperparathyroidism |
ORPHA:280062 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Hyperinsulinemia, Hyperhidrosis, Glycosuria, Pancreatic islet-cell hyperplasia, Fas... |
ORPHA:263455 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Splenomegaly, Primary amenorrhea, Hepatosp... |
OMIM:612526 |
Gangliocytoma |
|
Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent... |
ORPHA:251937 |
Citrullinemia, Type Ii, Adult-Onset |
|
Portal inflammation, Ballooning hepatocyte degeneration, Hepatic fibrosis, Hepatocellular carcino... |
OMIM:603471 |
Monocarboxylate Transporter 1 Deficiency |
|
Ketotic hypoglycemia |
OMIM:616095 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia |
OMIM:618160 |
Distal Deletion 10P |
|
Hypoplasia of penis, Cryptorchidism, Cleft palate, Polycystic ovaries, Ectopic anus, Anal atresia |
ORPHA:1580 |
Cach Syndrome |
|
Optic neuritis, Optic atrophy, Pancreatitis, Hepatosplenomegaly |
ORPHA:135 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Fasting hypoglycemia |
ORPHA:171706 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Optic atrophy, Pancreatitis |
ORPHA:27 |
Gist-Plus Syndrome |
|
Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis |
OMIM:175510 |
Acquired Ichthyosis |
|
Recurrent skin infections, Lymphoma, Neoplasm, Multiple myeloma, Sarcoma |
ORPHA:454 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures |
OMIM:620211 |
Familial Glucocorticoid Deficiency |
|
Decreased circulating dehydroepiandrosterone concentration, Hyponatremia, Decreased circulating c... |
ORPHA:361 |
Cushing Disease |
|
Increased urinary cortisol level, Sparse scalp hair, Adrenal hyperplasia, Diabetes mellitus, Para... |
ORPHA:96253 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Hypoglycemia |
OMIM:610090 |
Septooptic Dysplasia |
|
Diabetes insipidus, Decreased response to growth hormone stimulation test, Anterior pituitary hyp... |
OMIM:182230 |
Dermatomyositis |
|
Recurrent respiratory infections, Pericarditis, Gastrointestinal stroma tumor, Myocarditis, Lymph... |
ORPHA:221 |
Trisomy 20P |
|
Hypospadias, Thick hair, Highly arched eyebrow, Cryptorchidism, Low anterior hairline, Low poster... |
ORPHA:261318 |
Neuroblastoma, Susceptibility To, 2 |
|
Neuroblastoma, Ganglioneuroma, Ganglioneuroblastoma |
OMIM:613013 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:241520 |
Cystinosis |
|
Portal hypertension, Nephrogenic diabetes insipidus, Hypophosphatemia, Hypokalemia, Delayed puber... |
ORPHA:213 |
Pituitary Adenoma 2, Growth Hormone-Secreting |
|
Pituitary adenoma, Elevated circulating growth hormone concentration |
OMIM:300943 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Bronchitis, Abnormality of the spleen, Abnormality of the parat... |
ORPHA:2552 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... |
OMIM:218700 |
Middle Ear Neuroendocrine Tumor |
|
Neuroendocrine neoplasm, Facial palsy, Carcinoid tumor |
ORPHA:100084 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Central hypothyroidism, Abnormal th... |
OMIM:616113 |
Primary Sclerosing Cholangitis |
|
Uveitis, Hepatic fibrosis, Neoplasm of the gallbladder, Adenocarcinoma of the large intestine, He... |
ORPHA:171 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Premature thelarche, Polycystic ovaries, Type I diabetes mellitus, Nodular goiter, Hirsutism |
ORPHA:371428 |
Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Hypoplasia of penis, Male pseudohermaphroditism, Dec... |
ORPHA:983 |
Familial Keratoacanthoma |
|
Neoplasm, Adenoma sebaceum, Papilloma |
ORPHA:493 |
Igg4-Related Ophthalmic Disease |
|
Sinusitis, Cholangitis, Abnormal fifth cranial nerve morphology, Abnormality of infra-orbital ner... |
ORPHA:449563 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... |
ORPHA:168563 |
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism |
|
Anterior pituitary hypoplasia, Synophrys, Pituitary hypothyroidism, Long eyelashes, Micropenis, H... |
OMIM:619983 |
Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Decreased response to growth hormone stimulation test, Pseudohypoparathyroidism, Elev... |
ORPHA:94089 |
Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
Septo-Optic Dysplasia Spectrum |
|
Hypoplasia of penis, Anterior pituitary hypoplasia, Maternal diabetes, Cryptorchidism, Esophageal... |
ORPHA:3157 |
Disseminated Superficial Actinic Porokeratosis |
|
Squamous cell carcinoma |
ORPHA:79152 |
Fg Syndrome Type 1 |
|
Hypospadias, Abnormal large intestine morphology, Malrotation of colon, Cryptorchidism, Pyloric s... |
ORPHA:93932 |
46,Xy Complete Gonadal Dysgenesis |
|
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, B-cell lymphoma, Myelodysplasia, Hematological neoplasm, Splenomegaly, T-... |
ORPHA:158057 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Maturity-onset diabetes of the young, Exocrine pancreatic insufficiency |
OMIM:609812 |
Sanjad-Sakati Syndrome |
|
Hypoparathyroidism, Hypoplasia of penis, Cryptorchidism, Hyperphosphatemia, Hypocalcemia, Congeni... |
ORPHA:2323 |
Maple Syrup Urine Disease |
|
Hypoglycemia, Pancreatitis |
OMIM:248600 |
Mast Cell Sarcoma |
|
Splenomegaly, Hepatomegaly, Sarcoma |
ORPHA:66661 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent respiratory infections, Recurrent bacterial skin infections, Pneumonia, Atopic dermatit... |
ORPHA:217390 |
Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Lipoma, Pancreatitis, Hypocalcemic seizures |
ORPHA:405 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Laryngeal carcinoma, Hypospadias, External genital hypoplasia, Ovotestis, Carcinoma, Nail dystrop... |
OMIM:610644 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Macroorchidism, High palate |
OMIM:309520 |
Kenny-Caffey Syndrome, Type 2 |
|
Hypoparathyroidism, Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia |
OMIM:127000 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Increased circulating osteocalcin level, Decreased circulating parathyroid hormone level, Increas... |
ORPHA:157215 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Carcinoma, Chronic rhinitis, Squamous cell carcinoma |
OMIM:615225 |
Ring Chromosome 12 Syndrome |
|
Cryptorchidism, High, narrow palate, Glandular hypospadias, Uterine leiomyoma, Dystrophic toenail... |
ORPHA:1439 |
Alstrom Syndrome |
|
Hepatomegaly, Chronic active hepatitis, Hypergonadotropic hypogonadism, Decreased response to gro... |
OMIM:203800 |
Propionic Acidemia |
|
Hepatomegaly, Eczema, Hypoglycemia, Pancreatitis |
OMIM:606054 |
Preeclampsia |
|
Type I diabetes mellitus, Abnormality of the hepatic vasculature, Polycystic ovaries |
ORPHA:275555 |
Joubert Syndrome 15 |
|
Exencephaly |
OMIM:614464 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Hepatomegaly, Hypoglycemia |
OMIM:614741 |
Branchiootorenal Syndrome 1 |
|
Intestinal malrotation, Cleft palate, Euthyroid goiter, High palate, Bifid uvula, Cholesteatoma |
OMIM:113650 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Diabetes mellitus, Precocious puberty in females, Insulin resistance, Hyperinsuline... |
ORPHA:528 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Acute pancreatitis, Anal fissure, Eczema, Perianal abscess, Splenomegaly, Lymphadenitis, Recurren... |
OMIM:618935 |
Rat-Bite Fever |
|
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... |
ORPHA:31205 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Insulin resistance, Hyperinsulinemia, Cirrhosis, Hepatic steatosis |
ORPHA:363400 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatomegaly, Hypoglycemia, Portal fibrosis, Hepatic fibrosis, Cirrhosis, Hepatocellular carcinom... |
ORPHA:369 |
Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:612885 |
Glucocorticoid Deficiency 2 |
|
Recurrent hypoglycemia |
OMIM:607398 |
Burkitt Lymphoma |
|
Intestinal obstruction, Abnormality of the pancreas, Abnormality of the spleen, Abnormality of th... |
ORPHA:543 |
Legionnaires Disease |
|
Pericarditis, Abnormal pleura morphology, Splenomegaly, Jaundice, Abnormal lung morphology, Recur... |
ORPHA:549 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hypocalcemia, Hepatic bridging fibrosis, E... |
OMIM:619658 |
Schimke Immuno-Osseous Dysplasia |
|
Lymphoproliferative disorder, Abnormality of thyroid physiology, Minimal change glomerulonephriti... |
ORPHA:1830 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... |
ORPHA:90797 |
Necrobiosis Lipoidica |
|
Abnormality of the thyroid gland, Inflammatory abnormality of the skin, Diabetes mellitus, Squamo... |
ORPHA:542592 |
Nmda Receptor Encephalitis |
|
Ovarian teratoma, Neoplasm of the thymus, Hodgkin lymphoma, Neoplasm of the lung, Neoplasm of the... |
ORPHA:217253 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... |
ORPHA:98754 |
Seckel Syndrome 10 |
|
Acute pancreatitis, Diabetes mellitus, Impaired glucose tolerance, Elevated circulating luteinizi... |
OMIM:617253 |
Pearson Syndrome |
|
Hypoparathyroidism, Hepatic steatosis, Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Decr... |
ORPHA:699 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Thyroid dysgenesis, Thyroid hypoplasia, Thyroid agenesis, Cryptorchidism, Submucous cleft hard pa... |
ORPHA:3047 |
Matthew-Wood Syndrome |
|
Cryptorchidism, Abnormal lung morphology, Aplasia/Hypoplasia of the pancreas, Duodenal stenosis, ... |
ORPHA:2470 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Hepatomegaly, Tubulointerstitial nephritis, Hypoglycemia, Pancreatitis |
OMIM:251000 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Hypophosphatemic rickets, Abnormal circulating calcium concentration, Decreased circulating parat... |
OMIM:241530 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hepatomegaly, Acute pancreatitis, Hepatic steatosis, Insulin-resistant diabetes mellitus, Hyperin... |
OMIM:151660 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... |
ORPHA:98793 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 9 |
|
Hypoglycemia |
OMIM:616111 |
Verloove Vanhorick-Brubakk Syndrome |
|
Cryptorchidism, Abnormality of the parathyroid gland |
ORPHA:3429 |
Sebocystomatosis |
|
Steatocystoma multiplex, Adenoma sebaceum |
ORPHA:841 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Hypoglycemia |
ORPHA:6 |
Dent Disease 2 |
|
Elevated circulating creatine kinase concentration, Hypophosphatemia |
OMIM:300555 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... |
ORPHA:177904 |
Oculoskeletodental Syndrome |
|
Hypercalcemia, Hypocalcemia |
ORPHA:557003 |
Pancreatic Agenesis 2 |
|
Diabetes mellitus, Pancreatic aplasia, Steatorrhea, Pancreatic hypoplasia, Exocrine pancreatic in... |
OMIM:615935 |
Glycogen Storage Disease Ixa1 |
|
Splenomegaly, Hepatomegaly, Hypoglycemia |
OMIM:306000 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... |
ORPHA:177901 |
Acromelic Frontonasal Dysplasia |
|
Anterior pituitary hypoplasia, Midline central nervous system lipomas, Cryptorchidism, Hypopituit... |
ORPHA:1827 |
Mpi-Cdg |
|
Hepatomegaly, Portal hypertension, Hepatic fibrosis, Protein-losing enteropathy, Hyperinsulinemic... |
ORPHA:79319 |
Common Variable Immunodeficiency |
|
Gastrointestinal stroma tumor, Splenomegaly, Lymphoma, Abnormality of the liver, Anal atresia |
ORPHA:1572 |
Hypophosphatasia |
|
Hypercalcemia |
ORPHA:436 |
Spermatogenic Failure 28 |
|
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... |
OMIM:618086 |
Medulloblastoma |
|
Medulloblastoma |
OMIM:155255 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hepatomegaly, Diabetes mellitus, Decreased adiponectin level, Decreased serum leptin, Splenomegal... |
ORPHA:280365 |
Glycogen Storage Disease Iii |
|
Hepatomegaly, Hepatic fibrosis, Hypoglycemia |
OMIM:232400 |
Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Infectious encephalitis, Nephritis, At... |
ORPHA:73263 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level, Alopecia, Dec... |
ORPHA:293978 |
Ollier Disease |
|
Chondrosarcoma, Precocious puberty, Visceral angiomatosis, Multiple enchondromatosis, Neoplasm, H... |
ORPHA:296 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Pancreatitis, Aspiration pneumonia |
ORPHA:431361 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Dahlberg-Borer-Newcomer Syndrome |
|
Hypoparathyroidism, Hypothyroidism, Hypocalcemia |
ORPHA:1563 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Hypoplastic left heart, Anencephaly, Spina bifida |
ORPHA:2476 |
Caroli Syndrome |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Hypersplenism,... |
ORPHA:480520 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Small pituitary gland |
OMIM:614195 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Hypoglycemia, Stomatitis, Hepatocellular carcinoma, Chronic pancreatitis, Recurrent... |
OMIM:232240 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Hypospadias, Ovotestis, Cleft palate, Sex reversal, Adrenal gland agenesis |
OMIM:611812 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Hepatic steatosis, Hypoglycemia |
OMIM:617872 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:193100 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Hypophosphatemic rickets, Abnormal circulating calcium concentration, Elevated circulating parath... |
OMIM:307800 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Nephroblast... |
OMIM:194072 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Ketotic hypoglycemia |
ORPHA:79159 |
Microphthalmia, Isolated 4 |
|
Absent testis |
OMIM:613094 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Hepatic steatosis, Hypoglycemia |
OMIM:619048 |
Kenny-Caffey Syndrome, Type 1 |
|
Congenital hypoparathyroidism, Hypocalcemia, Hypomagnesemia |
OMIM:244460 |
Webb-Dattani Syndrome |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid... |
OMIM:615926 |
Joubert Syndrome 38 |
|
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Small pituitary gland,... |
OMIM:619476 |
Hypocalcemia, Autosomal Dominant 1 |
|
Decreased circulating parathyroid hormone level, Hypokalemia, Hyperphosphatemia, Increased circul... |
OMIM:601198 |
Mirizzi Syndrome |
|
Pancreatitis, Jaundice, Cholesterol gallstones, Cholelithiasis, Abnormal ductus choledochus morph... |
ORPHA:521219 |
49,Xxxyy Syndrome |
|
Decreased serum testosterone concentration, External genital hypoplasia, Abnormality of the testi... |
ORPHA:261534 |
Benign Schwannoma |
|
Intestinal polyposis, Facial palsy, Schwannoma, Peripheral schwannoma, Abnormality of the twelfth... |
ORPHA:252164 |
Mehmo Syndrome |
|
Hypoglycemia, Decreased response to growth hormone stimulation test |
OMIM:300148 |
Acute Lung Injury |
|
Acute pancreatitis, Abnormal pulmonary interstitial morphology, Pneumonia, Diffuse alveolar hemor... |
ORPHA:178320 |
Mismatch Repair Cancer Syndrome 1 |
|
Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ... |
OMIM:276300 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Hyperparathyroidism, Increased serum prostaglandin E2, Hypercalcemia, Hypochlor... |
OMIM:601678 |
Turcot Syndrome With Polyposis |
|
Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Neoplasm of the central nervous system, Thyroi... |
ORPHA:99818 |
Post-Traumatic Pituitary Deficiency |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Decreased c... |
ORPHA:95619 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Hyperinsulinemic hypoglycemia, Diabetes mellitus, Delayed thelarche, Delayed puberty |
OMIM:616033 |
Xeroderma Pigmentosum Variant |
|
Keratitis, Melanoma, Basal cell carcinoma, Squamous cell carcinoma |
ORPHA:90342 |
Congenital Fibrinogen Deficiency |
|
Hemorrhagic ovarian cyst, Splenic rupture, Volvulus, Left ventricular hypertrophy, Micropenis, De... |
ORPHA:335 |
Microscopic Polyangiitis |
|
Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Peritonitis, U... |
ORPHA:727 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Hypophosphatemia, Abnormal hepatic glycoge... |
ORPHA:2088 |
Riboflavin Deficiency |
|
Hypoglycemia |
OMIM:615026 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia |
OMIM:246900 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Hypoglycemia, Increased hepatic echogenicity, Fasting hypoglycemia, Impaired glucon... |
OMIM:261680 |
Hereditary Mixed Polyposis Syndrome |
|
Endometrial carcinoma, Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposi... |
ORPHA:157794 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Premature thelarche, Ambiguous genitalia, female, Premature... |
ORPHA:90795 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Decreased circulating cortisol level, Decreased female libido, Hypercalcemia, Adren... |
ORPHA:95409 |
Hypotonia-Cystinuria Syndrome |
|
Hypocalcemia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test |
OMIM:606407 |
2P21 Microdeletion Syndrome |
|
Hypogonadism, Hypocalcemia |
ORPHA:163693 |
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency |
|
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Decreased response to ... |
ORPHA:67045 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
High palate, Hepatic steatosis, Pancreatitis |
OMIM:236200 |
Hyperkeratosis Lenticularis Perstans |
|
Basal cell carcinoma, Squamous cell carcinoma |
ORPHA:409 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Hypoglycemia, Neonatal hypoglycemia |
ORPHA:231140 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Hypocalcemia, Hypophosphatemia |
OMIM:600081 |
Pancreatic Agenesis 1 |
|
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Neonatal insulin-dependent diabetes mel... |
OMIM:260370 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Hypergonadotropic hypogonadism, Insulin-resistant diabetes mellitus, Secondary amenorrhea, Polycy... |
OMIM:268020 |
Feingold Syndrome |
|
Abnormality of the spleen, Patent ductus arteriosus, Esophageal atresia, Annular pancreas, Duoden... |
ORPHA:1305 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test... |
ORPHA:79444 |
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay |
|
Recurrent hypoglycemia |
OMIM:618158 |
Squamous Cell Carcinoma, Head And Neck |
|
Squamous cell carcinoma |
OMIM:275355 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Villous atrophy, Renal cyst, Steatorrhea, Hepatic fibrosis, Protein-losing enteropa... |
OMIM:602579 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Diabetes mellitus, Septate vagina, Uterus didelphys, Parathyroid hypoplasia, ... |
ORPHA:2237 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:89937 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11 |
|
Hypoglycemia |
ORPHA:231147 |
Pituitary Hormone Deficiency, Combined Or Isolated, 8 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin... |
OMIM:620303 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... |
ORPHA:226307 |
Giant Axonal Neuropathy |
|
Abnormal pituitary gland morphology |
ORPHA:643 |
3-Methylglutaconic Aciduria Type 4 |
|
Hypoglycemia |
ORPHA:67048 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:71529 |
Frasier Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Male pseudohermaphroditism, Increased circulating g... |
ORPHA:347 |
Pseudopseudohypoparathyroidism |
|
Abnormality of the endocrine system, Hypocalcemia, Elevated circulating parathyroid hormone level... |
ORPHA:79445 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatic steatosis, Ketotic hypoglycemia |
ORPHA:26792 |
Familial Mediterranean Fever |
|
Intestinal obstruction, Pericarditis, Skin rash, Malabsorption, Orchitis, Splenomegaly, Peritonit... |
ORPHA:342 |
Hypophosphatasia, Infantile |
|
Elevated plasma pyrophosphate, Hypercalcemia |
OMIM:241500 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... |
OMIM:146510 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Precocious puberty, Hypertriglyceridemia, Hypercalcemia |
ORPHA:369837 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperglycemia, Hyperinsulinemia |
ORPHA:329249 |
Prolactinoma |
|
Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Delayed puberty, ... |
ORPHA:2965 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hepatomegaly, Diabetes mellitus, Hypouricemia, Hypophosphatemia |
OMIM:616026 |
Non-Acquired Panhypopituitarism |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Ant... |
ORPHA:90695 |
Lynch Syndrome 8 |
|
Endometrial carcinoma, Adenomatous colonic polyposis, Colon cancer, Hereditary nonpolyposis color... |
OMIM:613244 |
Yellow Nail Syndrome |
|
Renal neoplasm, Recurrent respiratory infections, Sinusitis, Biliary tract neoplasm, Bronchiectas... |
ORPHA:662 |
Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di... |
ORPHA:99886 |
Leukonychia Totalis |
|
Abnormal eyelash morphology, Adenoma sebaceum, Type II diabetes mellitus |
ORPHA:2387 |
Proteus-Like Syndrome |
|
Thymus hyperplasia, Splenomegaly, Abnormality of the parathyroid gland, Polycystic ovaries, Heman... |
ORPHA:2969 |
Doors Syndrome |
|
Adrenal hyperplasia, Low anterior hairline, Cleft palate, Congenital hypothyroidism, Narrow palat... |
ORPHA:79500 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Abnormal circulating follicle-stimulating hormone concentration, Hyperphosphatemia, Hypocalcemic ... |
ORPHA:93325 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Elevated creatine kinase after exercise, Hypercalcemia |
ORPHA:284426 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Hypophosphatemia |
OMIM:308990 |
Colorectal Cancer, Susceptibility To, 10 |
|
Endometrial carcinoma, Colorectal polyposis, Hereditary nonpolyposis colorectal carcinoma |
OMIM:612591 |
Galactokinase Deficiency |
|
Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly |
ORPHA:79237 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Male hypogonadism, Micropenis, Hypogonadotropic hypogonadism, Cryptorchidism, Absence of secondar... |
ORPHA:432 |
Pyruvate Carboxylase Deficiency |
|
Hepatomegaly, Hypoglycemia |
OMIM:266150 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia |
OMIM:610006 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Diabetes mellitus, Facial palsy, Aplasia/Hypoplasia of the pancreas, Abnormal liver... |
ORPHA:456312 |
Glycogen Storage Disease Ia |
|
Hepatomegaly, Hypoglycemia, Hepatocellular carcinoma, Gout, Fasting hypoglycemia, Delayed puberty... |
OMIM:232200 |
Uremic Pruritus |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
Junctional Epidermolysis Bullosa Inversa |
|
Basal cell carcinoma, Gastrointestinal inflammation, Cutaneous melanoma, Squamous cell carcinoma |
ORPHA:79405 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Hypoglycemia, Hypothyroidism, Delayed puberty, Hepatocellular adenoma, Thyroiditis,... |
ORPHA:79259 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... |
ORPHA:1772 |
Igg4-Related Submandibular Gland Disease |
|
Cholangitis, Retroperitoneal fibrosis, Abnormality of the thyroid gland, Prostatitis, Enlarged la... |
ORPHA:449432 |
Late-Onset Junctional Epidermolysis Bullosa |
|
Hyperhidrosis, Gastrointestinal inflammation, Squamous cell carcinoma, Basal cell carcinoma, Cuta... |
ORPHA:79406 |
Idiopathic Hypereosinophilic Syndrome |
|
Inflammatory abnormality of the skin, Cholangitis, Myelodysplasia, Malabsorption, Eczema, Splenom... |
ORPHA:3260 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mel... |
ORPHA:79085 |
Citrullinemia Type Ii |
|
Hepatomegaly, Hepatic fibrosis, Hepatocellular carcinoma, Delayed menarche, Hepatic steatosis, Pa... |
ORPHA:247585 |
Hypophosphatemic Bone Disease |
|
Hypophosphatemia |
OMIM:146350 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Diabetes mellitus, Hyperthyroidism, Abnormality of the liver, Left ventricular hypertrophy, Hypot... |
ORPHA:254892 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Hepatomegaly, Hypoglycemia, Cryptorchidism |
OMIM:618958 |
Lambert-Eaton Myasthenic Syndrome |
|
Small cell lung carcinoma |
ORPHA:43393 |
Fanconi Renotubular Syndrome 2 |
|
Elevated circulating parathyroid hormone level, Hypophosphatemia |
OMIM:613388 |
Ovarian Dysgenesis 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:619665 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... |
OMIM:614841 |
Dysbetalipoproteinemia |
|
Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Hypothyroidism, Gout, Hepatic steatosis |
ORPHA:412 |
Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration |
OMIM:615883 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia |
DECIPHER:16 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Biliary tract obstruction, Intermi... |
ORPHA:100085 |
Igg4-Related Kidney Disease |
|
Lymphadenitis, Abnormal lung morphology, Lymphocytoma cutis, Tubulointerstitial nephritis, Cholec... |
ORPHA:449395 |
Igg4-Related Pachymeningitis |
|
Sinusitis, Lymphadenitis, Abnormal lung morphology, Nephritis, Pancreatitis, Parotitis |
ORPHA:449427 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Curly hair, Cleft soft palate, Precocious puberty, High, narrow palate, High anterior hairline, L... |
OMIM:619950 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia |
OMIM:618406 |
Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Pancreatitis |
OMIM:615947 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Decreased serum leptin, Splenomegaly, Hyperi... |
OMIM:608594 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Acute pancreatitis, Hypoglycemia, Polycystic kidney dysplasia, Hepatic periportal n... |
ORPHA:26791 |
Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Hypoplasia of the small intestine, Hepatic ... |
OMIM:200995 |
Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia |
ORPHA:369873 |
Dyskeratosis Congenita, Digenic |
|
Alopecia, Sparse eyelashes, Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, ... |
OMIM:620040 |
49,Xyyyy Syndrome |
|
External genital hypoplasia, Abnormality of the testis size, Increased circulating gonadotropin l... |
ORPHA:99330 |
Dextrocardia |
|
Intestinal malrotation, Abnormality of the spleen, Abnormal lung lobation, Abnormality of abdomin... |
ORPHA:1666 |
Retinoblastoma |
|
Lymphoma, Cleft palate, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma |
OMIM:180200 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Hepatic cysts, Abnormality of the testis size, Abno... |
ORPHA:400 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Diffuse leiomyomatosis, Tracheobronchial leiomyomatosis, Vulvar neoplasm, Vaginal neoplasm, Esoph... |
ORPHA:1018 |
X-Linked Agammaglobulinemia |
|
Neoplasm, Hypocalcemia, Hepatitis |
ORPHA:47 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Acute pancreatitis, Pericarditis, Chilblains, Portal hypertension, Hypothyroidism, ... |
OMIM:619487 |
Oculocerebrorenal Syndrome Of Lowe |
|
Benign neoplasm of the central nervous system, Hyponatremia, Hyperparathyroidism, Hypoammonemia, ... |
ORPHA:534 |
Ovarian Dysgenesis 10 |
|
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... |
OMIM:619834 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Hirsutism, Amenorrhea |
ORPHA:2795 |
Fraser-Like Syndrome |
|
Ovarian cyst |
OMIM:229230 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Cleft palate, Gonadal dysgenesis, Abnormal hair pattern, Polycystic ovaries |
ORPHA:1770 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... |
OMIM:229070 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Elevated circulating creatine kinase concentration, Hypomagnesemia, Hypophosphatemia, Hypophospha... |
OMIM:619743 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Neoplasm of the adrenal cortex, Intestinal polyposis, Abnormal large intestine morphology, Viscer... |
ORPHA:109 |
Familial Chylomicronemia Syndrome |
|
Acute pancreatitis, Diabetes mellitus, Perianal abscess, Jaundice, Hepatosplenomegaly, Recurrent ... |
ORPHA:444490 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Cryptorchidism, Pancreatic lymphangiectasis, Splenomegaly, Hepatosplenomegaly, Abno... |
ORPHA:1655 |
Paraneoplastic Pemphigus |
|
B-cell lymphoma, Thymoma, Sarcoma |
ORPHA:63455 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Ectopic posterior pituitary, Posterior pituitary hypoplasia, Hypoglycemia, Neonatal hypoglycemia |
OMIM:613986 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Hypophosphatemia |
OMIM:612287 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Hyperinsulinemia |
ORPHA:66518 |
Colchicine Poisoning |
|
Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... |
ORPHA:31824 |
Deeah Syndrome |
|
Hepatomegaly, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasi... |
OMIM:619004 |
Duplication Of The Pituitary Gland |
|
Abnormal pituitary gland morphology, Volvulus, Cleft palate, Abnormal hypothalamus morphology, Te... |
ORPHA:314621 |
Aceruloplasminemia |
|
Diabetes mellitus, Abnormal pancreas morphology, Hepatic fibrosis, Cirrhosis, Elevated hepatic ir... |
ORPHA:48818 |
Bardet-Biedl Syndrome 20 |
|
Bilateral cryptorchidism, Male hypogonadism, Papilledema, Pancreatitis |
OMIM:619471 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cholestatic liver disease, Hypoglycemia, Hypoketotic hypoglycemia |
ORPHA:5 |
Congenital Isolated Acth Deficiency |
|
Neonatal hypoglycemia, Hepatitis, Hypoglycemic seizures, Prolonged neonatal jaundice |
ORPHA:199296 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mel... |
ORPHA:435660 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... |
ORPHA:2235 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Ant... |
ORPHA:95494 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hypoglycemia |
ORPHA:364 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Ketotic hypoglycemia, Glycosuria |
ORPHA:2089 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Multicystic kidney dysplasia, Diabetes mellitus, Hypothyroidism, Jaundice, Pyloric stenosis, Apla... |
ORPHA:93111 |
Behçet Disease |
|
Increased inflammatory response, Myositis, Pericarditis, Acne, Malabsorption, Orchitis, Splenomeg... |
ORPHA:117 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Increased blood urea nitrogen, Hypercalcemia, Delayed puberty |
ORPHA:251004 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Asplenia, Patent ductus arteri... |
ORPHA:210122 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Micropenis, Hypospadias, Small pituitary gland, Hypertrichosis |
OMIM:619479 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Hypophosphatemia |
OMIM:612286 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test... |
ORPHA:79443 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hypouricemia, Intrahepatic cholestasis, Hypophosphatemia, Hypokalemia, Hypergalacto... |
OMIM:227810 |
Melas |
|
Hypoparathyroidism, Peripheral axonal neuropathy, Diabetes mellitus, Hypogonadotropic hypogonadis... |
ORPHA:550 |
Trichohepatoneurodevelopmental Syndrome |
|
Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Macroglossia, Recurrent pancreatitis, Hypop... |
OMIM:618268 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Unilateral cryptorchidism, Anterior pituitary hypoplasia, Bilateral cryptorchidism, Cryptorchidis... |
OMIM:613457 |
Monosomy 13Q34 |
|
Hepatic steatosis, Metrorrhagia, Hypercalcemia |
ORPHA:96168 |
Cystic Fibrosis |
|
Hepatomegaly, Meconium ileus, Recurrent bronchopulmonary infections, Rectal prolapse, Ileus, Recu... |
OMIM:219700 |
Self-Improving Dystrophic Epidermolysis Bullosa |
|
Basal cell carcinoma, Gastrointestinal inflammation, Cutaneous melanoma, Squamous cell carcinoma |
ORPHA:79411 |
Pseudopseudohypoparathyroidism |
|
Pseudohypoparathyroidism |
OMIM:612463 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Cryptorchidism, Elevated circulating thyroid-stimulating horm... |
OMIM:618183 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Cryptorchidism, Elevated circulating thyroid-stimulating hormone concentration, Irregular menstru... |
OMIM:101800 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hepatomegaly, Acute pancreatitis, Decreased serum leptin, Splenomegaly, Hyperinsulinemia, Polycys... |
OMIM:269700 |
Atelosteogenesis Type I |
|
Malrotation of colon, Cleft palate, Multiple renal cysts, Pulmonary hypoplasia, Abnormal pancreat... |
ORPHA:1190 |
Beckwith-Wiedemann Syndrome |
|
Leiomyosarcoma, Neoplasm, Hepatoblastoma, Hypothyroidism, Hepatomegaly, Cryptorchidism, Adrenocor... |
ORPHA:116 |
Pineoblastoma |
|
Retinoblastoma, Pinealoma |
ORPHA:251909 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Thyroid lymphangiectasia, Cryptorchidism, Pancreatic lymphangiectasis, Splenomegaly... |
OMIM:235255 |
Fanconi Renotubular Syndrome 1 |
|
Hypokalemia, Hypophosphatemia |
OMIM:134600 |
Infantile Liver Failure Syndrome 2 |
|
Jaundice, Hypoglycemia |
OMIM:616483 |
Granulomatosis With Polyangiitis |
|
Recurrent respiratory infections, Intestinal obstruction, Recurrent intrapulmonary hemorrhage, Si... |
ORPHA:900 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Hypoglycemia |
OMIM:618241 |
Aromatase Deficiency |
|
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism |
OMIM:613546 |
Epidermodysplasia Verruciformis |
|
Recurrent skin infections, Seborrheic dermatitis, Pustule, Squamous cell carcinoma, Verrucae |
ORPHA:302 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hamartomatous polyposis, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:175500 |
Apolipoprotein C-Ii Deficiency |
|
Splenomegaly, Hepatomegaly, Pancreatitis |
OMIM:207750 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Decreased serum insulin-like growth factor 1, Eczema, Allergic rhinitis, Patent ductus arteriosus... |
OMIM:618162 |
Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Hypospadias, Abnormality of the thy... |
ORPHA:209905 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Decreased circula... |
OMIM:614837 |
Thyroid Hypoplasia |
|
Macroglossia, Jaundice, Hypothyroidism, Thyroid hypoplasia |
ORPHA:95720 |
Glucose-Galactose Malabsorption |
|
Hypernatremia, Hypercalcemia |
ORPHA:35710 |
Cystinosis, Nephropathic |
|
Male infertility, Hyponatremia, Hepatomegaly, Diabetes mellitus, Hypomagnesemia, Splenomegaly, Re... |
OMIM:219800 |
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea |
OMIM:614858 |
Premature Ovarian Failure 18 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... |
OMIM:619203 |
Hsd10 Mitochondrial Disease |
|
Hypoglycemia |
OMIM:300438 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Neonatal hypoglycemia, Hypoglycemic seizures, Panhypopituitarism, Reduced circulating prolactin c... |
OMIM:262600 |
Combined Malonic And Methylmalonic Acidemia |
|
Hypoglycemia |
ORPHA:289504 |
Tetraamelia Syndrome 1 |
|
Hypoplasia of the fallopian tube, Absent external genitalia, Asplenia, Cleft palate, Adrenal glan... |
OMIM:273395 |
Schopf-Schulz-Passarge Syndrome |
|
Basal cell carcinoma, Poroma, Apocrine hidrocystoma, Squamous cell carcinoma |
OMIM:224750 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemic seizures, Hepatic steatosis, Hepatic necrosis, Hypoketotic hypoglycemia |
OMIM:231530 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:618841 |
Coccidioidomycosis |
|
Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Abnormality of the endocrine system, Abnormali... |
ORPHA:228123 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Hypothyroidism, Steatorrhea, Hepatic fibros... |
OMIM:616263 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Hypoglycemia |
ORPHA:48431 |
Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level, Secondary amenorrhea, ... |
OMIM:615300 |
Phace Association |
|
Cavernous hemangioma of the face, Congenital hypothyroidism, Plaque-like facial hemangioma, Subgl... |
OMIM:606519 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Hepatomegaly, Hepatic steatosis, Hypoglycemia |
OMIM:201450 |
Temple Syndrome |
|
Cryptorchidism, Recurrent hypoglycemia, Type II diabetes mellitus, Decreased response to growth h... |
ORPHA:254516 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... |
ORPHA:411634 |
Pyridoxine-Dependent Epilepsy |
|
Hypoglycemia |
ORPHA:3006 |
Papillon-Lefèvre Syndrome |
|
Recurrent respiratory infections, Recurrent cutaneous abscess formation, Liver abscess, Severe pe... |
ORPHA:678 |
Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Oropharyngeal squamous cell carcinoma, Myelodysplasia, Cryptorchidism, Es... |
OMIM:305000 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Hypoglycemia |
OMIM:617950 |
Short Stature, Dauber-Argente Type |
|
Fasting hyperinsulinemia |
OMIM:619489 |
Thyroid Ectopia |
|
Abnormality of the thyroid gland, Jaundice, Macroglossia, Ectopic thyroid, Hypothyroidism |
ORPHA:95712 |
Aicardi Syndrome |
|
Hiatus hernia, Precocious puberty, Optic disc coloboma, Optic atrophy, Recurrent pneumonia, Terat... |
OMIM:304050 |
Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Disseminated cutaneous warts, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia,... |
ORPHA:90362 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the esophagus, Recurrent... |
OMIM:243700 |
Microphthalmia, Syndromic 3 |
|
Hypogonadotropic hypogonadism, Hypospadias, Anterior pituitary hypoplasia, Cryptorchidism, Esopha... |
OMIM:206900 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:300554 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Macrovesicular hepatic steatosis, Hypoketotic hypoglycemia |
OMIM:600649 |
Double Outlet Right Ventricle |
|
Hypoparathyroidism, Hypocalcemia, Aplasia/Hypoplasia of the thymus |
ORPHA:3426 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Eczema, Pancreatic steatosis, Cryptorchidism, Hyperechogenic pancreas, Ex... |
OMIM:617052 |
Luscan-Lumish Syndrome |
|
High anterior hairline, Irregular menstruation, Hirsutism, Polycystic ovaries |
OMIM:616831 |
Ichthyosis, Hystrix-Like, With Deafness |
|
Punctate keratitis, Erythroderma, Squamous cell carcinoma |
OMIM:602540 |
Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Hyperinsulinemia, Increased serum leptin |
OMIM:617885 |
Congenital Factor Vii Deficiency |
|
Ovarian cyst, Menorrhagia |
ORPHA:327 |
Celiac Disease, Susceptibility To, 1 |
|
Lymphoma, Thyroiditis, Steatorrhea, Infertility, Hypocalcemia, Delayed puberty, Type I diabetes m... |
OMIM:212750 |
Shwachman-Diamond Syndrome 2 |
|
Hepatomegaly, High palate, Steatorrhea, Hyperechogenic pancreas, Exocrine pancreatic insufficiency |
OMIM:617941 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Diffuse hepatic steatosis, Hypocalcemia, Cholestasis |
ORPHA:746 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hepatomegaly, Splenomegaly, Insulin resistance, Pyloric stenosis, Hyperinsulinemia, Ileus, Recurr... |
OMIM:613327 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
Premature Ovarian Failure 6 |
|
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Fe... |
OMIM:612310 |
Gallbladder Neuroendocrine Tumor |
|
Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Neoplasm of the nervous ... |
ORPHA:100086 |
Hereditary Fructose Intolerance |
|
Hepatomegaly, Jaundice, Hypermagnesemia, Hyperuricemia, Hypophosphatemia |
ORPHA:469 |
Progressive Non-Fluent Aphasia |
|
Brain neoplasm |
ORPHA:100070 |
Premature Ovarian Failure 5 |
|
Streak ovary, Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplas... |
OMIM:611548 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Hypoglycemia |
OMIM:615160 |
Paget Disease Of Bone 2, Early-Onset |
|
Hypercalcemia |
OMIM:602080 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Fasting hyperinsulinemia, Hypoglycemic seizures, Hepatic necrosis, Hyperinsulinemic hypoglycemia,... |
ORPHA:71212 |
Histidinuria-Renal Tubular Defect Syndrome |
|
Hypoglycemia |
ORPHA:2158 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Inflammatory abnormality of the skin, Diabetes mellitus, Splenomegaly, Pancreatitis |
ORPHA:565612 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Pancreatic fibrosis, Pulmonary hypoplasia |
OMIM:615503 |
Alg3-Cdg |
|
Macroglossia, Neural tube defect, Cardiomyopathy, Decreased liver function, Arthrogryposis multip... |
ORPHA:79321 |
Infection-Related Hemolytic Uremic Syndrome |
|
Diabetes mellitus, Pneumonia, Intestinal perforation, Respiratory tract infection, Myocarditis, P... |
ORPHA:544482 |
Tetragametic Chimerism |
|
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... |
ORPHA:199310 |
Autoimmune Polyendocrinopathy Type 4 |
|
Alopecia, Atrophic gastritis, Hypergonadotropic hypogonadism, Celiac disease, Primary adrenal ins... |
ORPHA:227990 |
Toxic Epidermal Necrolysis |
|
Recurrent respiratory infections, Abnormal pleura morphology, Malabsorption, Intestinal perforati... |
ORPHA:537 |
Neuroendocrine Tumor Of The Colon |
|
Increased serum serotonin, Hepatomegaly, Carcinoid tumor, Atypical pulmonary carcinoid tumor |
ORPHA:100080 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Hepatomegaly, Hypoglycemia |
ORPHA:2394 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Pancreatic fibrosis, Intestinal malrotation, Hamartoma of tongue, Cleft palate, Hepatic fibrosis,... |
OMIM:263520 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly |
OMIM:238600 |
Autoimmune Polyendocrinopathy Type 3 |
|
Alopecia, Atrophic gastritis, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Celi... |
ORPHA:227982 |
Premature Ovarian Failure 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... |
OMIM:615724 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Posterior pituitary hypoplasia, Abnormality of the anterior pituitary |
ORPHA:75389 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect |
OMIM:600776 |
14Q22Q23 Microdeletion Syndrome |
|
Small scrotum, Anterior pituitary hypoplasia, Adrenal hypoplasia, Cryptorchidism, Abnormality of ... |
ORPHA:264200 |
Rothmund-Thomson Syndrome, Type 2 |
|
Cryptorchidism, Squamous cell carcinoma, Anteriorly placed anus, Basal cell carcinoma, Hypogonadi... |
OMIM:268400 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Abnormality of the endocrine system, Cryptorchidism, Pseudohypoparathyroidism |
ORPHA:464288 |
Ulnar-Mammary Syndrome |
|
Ectopic posterior pituitary, Small scrotum, Anal stenosis, Anterior pituitary hypoplasia, Sparse ... |
OMIM:181450 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Hypoglycemia |
OMIM:618120 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased serum testosterone... |
OMIM:616030 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Retroperitoneal fibrosis, Enlarged lacrimal glands, Thyroiditis, Xerostomia, Enlargement of parot... |
ORPHA:79078 |
Ebola Hemorrhagic Fever |
|
Acute pancreatitis, Maculopapular exanthema, Hepatitis |
ORPHA:319218 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Hydrocele testis, Multiple lipomas, Nephroblastoma, Ovarian serous cystadenoma, Enlarged kidney |
ORPHA:276280 |
Large Congenital Melanocytic Nevus |
|
Rhabdomyosarcoma, Neoplasm, Neoplasm of the skin, Cutaneous melanoma, Sarcoma |
ORPHA:626 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Dysmenorrhea, Splenomegaly, Irregular menstruation, Hepatocellular adenoma, Cholest... |
ORPHA:264580 |
Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
Xeroderma Pigmentosum, Complementation Group F |
|
Seborrheic keratosis, Keratoacanthoma, Squamous cell carcinoma, Basal cell carcinoma, Neoplasm of... |
OMIM:278760 |
Hypoadrenocorticism, Familial |
|
Hypoglycemia |
OMIM:240200 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Hypercalcemia |
ORPHA:476126 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing... |
ORPHA:79102 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Small scrotum, Hypospadias, Cryptorchidism, Hypocalcemia, Micropenis |
OMIM:607143 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hepatomegaly, Hypoglycemia |
ORPHA:156 |
Holoprosencephaly 9 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid... |
OMIM:610829 |
Proprotein Convertase 1/3 Deficiency |
|
Hypoinsulinemia, Reactive hypoglycemia |
OMIM:600955 |
Infantile Systemic Hyalinosis |
|
Malabsorption, Polycystic ovaries, Abnormality of the adrenal glands, Steatorrhea, Aplasia/Hypopl... |
ORPHA:2176 |
Oral Submucous Fibrosis |
|
Oropharyngeal squamous cell carcinoma, Cheilitis |
ORPHA:357154 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Intestinal perforation, Peritonitis, Rectal prolapse, Colonic stenosis, Pancreatitis, Acute colit... |
ORPHA:90038 |
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
|
Decreased response to growth hormone stimulation test, Fasting hypoglycemia |
ORPHA:436174 |
Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Pneumonia, Elevated circulating growth hormone concentration, Increased circulating... |
ORPHA:97287 |
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
Hypoglycemia |
ORPHA:231137 |
Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Aganglionic megacolon, Pancreatitis, Megaduodenum, Microcolon |
OMIM:155310 |
Tatton-Brown-Rahman Syndrome |
|
Patent ductus arteriosus, Cryptorchidism, Myeloid leukemia, Neuroendocrine neoplasm |
ORPHA:404443 |
Stevens-Johnson Syndrome |
|
Recurrent respiratory infections, Abnormal pleura morphology, Esophageal stricture, Conjunctiviti... |
ORPHA:36426 |
Hydranencephaly |
|
Thalamic edema, Dysgenesis of the thalamus, Atrophic pituitary gland |
ORPHA:2177 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Nonketotic hypoglycemia, Hepatomegaly, Acute pancreatitis, Jaundice, Lipid accumulation in hepato... |
ORPHA:20 |
Bohring-Opitz Syndrome |
|
Bilateral cleft palate, Intestinal malrotation, Delayed peripheral myelination, Supernumerary nip... |
OMIM:605039 |
Silver-Russell Syndrome 2 |
|
Neonatal hypoglycemia |
OMIM:618905 |
Ovarian Dysgenesis 3 |
|
Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ... |
OMIM:614324 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hypospadias, Anterior pituitary hypoplasia, Cryptorchidism, Pyloric stenosis, Micropenis, Breast ... |
ORPHA:464306 |
Glycogen Storage Disease Ixd |
|
Hypoglycemia |
OMIM:300559 |
Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... |
ORPHA:325124 |
Malonyl-Coa Decarboxylase Deficiency |
|
Hypoglycemia |
OMIM:248360 |
X-Linked Intellectual Disability, Snyder Type |
|
Cryptorchidism, Testicular atrophy, Abnormality of the Leydig cells, Hypospadias |
ORPHA:3063 |
Dent Disease 1 |
|
Hypophosphatemia |
OMIM:300009 |
Sotos Syndrome |
|
Sacrococcygeal teratoma, Astrocytoma, Hypospadias, Hypercalcemia, Phimosis, Cryptorchidism, Small... |
ORPHA:821 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
Isolated Exencephaly |
|
Anterior pituitary hypoplasia, Posterior pituitary agenesis, Maternal diabetes |
ORPHA:563612 |
Pauci-Immune Glomerulonephritis |
|
Glomerulonephritis, Crescentic glomerulonephritis, Scleritis, Tubulointerstitial nephritis, Arter... |
ORPHA:93126 |
Prader-Willi Syndrome Due To Translocation |
|
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, External ... |
ORPHA:177907 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Hypospadias, Anterior pituitary hypoplasia, Cryptorchidism, Cleft palate, Anteriorly placed anus,... |
OMIM:151050 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Decreased response to growth hormone stimulation test, Glomerulonephritis, Intraalv... |
ORPHA:470 |
Glycerol Kinase Deficiency |
|
Adrenocortical hypoplasia, Hypoglycemia, Chronic pancreatitis, Cryptorchidism, Adrenal insufficiency |
OMIM:307030 |
Velocardiofacial Syndrome |
|
Hypoparathyroidism, Cryptorchidism, Hypocalcemia |
OMIM:192430 |
Neutral Lipid Storage Myopathy |
|
Hepatomegaly, Diabetes mellitus, Chronic pancreatitis, Pineal cyst, Cholecystitis, Hepatic steatosis |
ORPHA:98908 |
Classic Galactosemia |
|
Hepatomegaly, Jaundice, Hypoglycemia, Cryptorchidism |
ORPHA:79239 |
Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Esophageal stricture, Gastrointestinal inflammation, Squamous cell carcinoma, Basal cell carcinom... |
ORPHA:79409 |
Infantile Nephropathic Cystinosis |
|
Hypokalemia, Abnormality of thyroid physiology, Abnormal blood ion concentration, Hypophosphatemia |
ORPHA:411629 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Hepatic steatosis, Neonatal hypoglycemia, Hypoglycemia |
OMIM:212138 |
Retinoblastoma |
|
Glioma, Rhabdomyosarcoma, Lymphoma, Pineoblastoma, Leiomyosarcoma, Cleft palate, Melanoma, Retino... |
ORPHA:790 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hepatic steatosis, Hypoglycemia |
ORPHA:42 |
Recurrent Respiratory Papillomatosis |
|
Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pn... |
ORPHA:60032 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Hypoglycemia |
OMIM:618838 |
Mandibuloacral Dysplasia |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Abnormal tongue morpho... |
ORPHA:2457 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Microvesicular hepatic steatosis, Recurrent hypoglycemia, Impaired gluconeogenesis,... |
OMIM:212140 |
Pituitary Gigantism |
|
Elevated circulating growth hormone concentration, Amenorrhea, Increased circulating insulin-like... |
ORPHA:99725 |
Bohring-Opitz Syndrome |
|
Recurrent respiratory infections, Nephroblastoma, Medulloblastoma, Optic atrophy, Cleft palate, C... |
ORPHA:97297 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Hypospadias, Bifid uterus, Cleft palate, Adrenal gland dysgenesis, Abnormal vag... |
OMIM:236680 |
17Q12 Microdeletion Syndrome |
|
Cryptorchidism, Multicystic kidney dysplasia, Diabetes mellitus, Pancreatic aplasia |
ORPHA:261265 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Jaundice, Hypoglycemia, Cirrhosis |
OMIM:617049 |
Opsismodysplasia |
|
Hypophosphatemia |
OMIM:258480 |
Neuroendocrine Tumor Of The Rectum |
|
Increased serum serotonin, Hepatomegaly, Carcinoid tumor, Atypical pulmonary carcinoid tumor |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Increased serum serotonin, Hepatomegaly, Carcinoid tumor, Atypical pulmonary carcinoid tumor |
ORPHA:100082 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Hypoplasia of penis, Hypospadias, Intestinal malrotation, Adrenal hypoplasia, Cryptorchidism, Cle... |
ORPHA:2166 |
Prader-Willi Syndrome |
|
Recurrent respiratory infections, Hypogonadotropic hypogonadism, Decreased response to growth hor... |
OMIM:176270 |
Pyridoxal Phosphate-Responsive Seizures |
|
Hypoglycemia |
ORPHA:79096 |
Endometrial Cancer |
|
Endometrial carcinoma |
OMIM:608089 |
Pearson Marrow-Pancreas Syndrome |
|
Hepatomegaly, Villous atrophy, Pancreatic fibrosis, Malabsorption, Macronodular cirrhosis, Steato... |
OMIM:557000 |
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Hypoglycemia |
OMIM:614739 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypoglycemia |
OMIM:614702 |
Fanconi Anemia, Complementation Group D2 |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Esophageal atresia, Patent ductus arteriosus, Tra... |
OMIM:227646 |
Xeroderma Pigmentosum, Variant Type |
|
Keratitis, Squamous cell carcinoma, Basal cell carcinoma, Conjunctivitis, Cutaneous melanoma |
OMIM:278750 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Hypoglycemia, Fasting hypoglycemia, Hepatic steatosis, Neonatal hypoglycemia |
ORPHA:348 |
Aspartylglucosaminuria |
|
Hepatomegaly, Malabsorption, Splenomegaly, Macroglossia, Macroorchidism |
ORPHA:93 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Hypoglycemia |
OMIM:229700 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Dysmenorrhea, Splenomegaly, Irregular menstruation, Hepatocellular adenoma, Polycys... |
ORPHA:79240 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Decreased response to growth hormone stimulation test, Synophrys, High palate, Micropenis, Thorac... |
OMIM:619503 |
Pituitary Stalk Interruption Syndrome |
|
Cryptorchidism, Ectopic posterior pituitary, Hypoglycemia |
ORPHA:95496 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Cryptorchidism, Hypoglycemia |
OMIM:614736 |
Laron Syndrome |
|
Hypoglycemia |
ORPHA:633 |
Short Syndrome |
|
Ovarian cyst, Insulin-resistant diabetes mellitus |
OMIM:269880 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... |
ORPHA:2975 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Uterine leiomyoma, Irregular menstruation, Exostoses |
OMIM:616482 |
Genetic Recurrent Myoglobinuria |
|
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia |
ORPHA:99845 |
Multiple Myeloma |
|
Splenomegaly, Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia |
ORPHA:29073 |
Trisomy 8P |
|
Cryptorchidism, Malrotation of small bowel, Abnormal lung lobation, Recurrent upper respiratory t... |
ORPHA:264450 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Splenomegaly, Intraalveolar phospholipid accumulation, Pancreatitis, Pulmonary hemo... |
OMIM:222700 |
Distal Deletion 12Q |
|
Late onset atopic dermatitis, Diabetes mellitus, Unilateral cryptorchidism, Maturity-onset diabet... |
ORPHA:96149 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Glucose intolerance, High palate, Hypergly... |
OMIM:608612 |
Intermediate Osteopetrosis |
|
Hypocalcemia, Hepatosplenomegaly |
ORPHA:210110 |
Woodhouse-Sakati Syndrome |
|
Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m... |
ORPHA:3464 |
Glucocorticoid Resistance, Generalized |
|
Hypoglycemia |
OMIM:615962 |
Pancreatic And Cerebellar Agenesis |
|
Diabetes mellitus, Hypoglycemia, Hyperglycemia, Pancreatic hypoplasia, Pancreatic aplasia |
OMIM:609069 |
Pallister-Hall Syndrome |
|
Small scrotum, Adrenal hypoplasia, Gonadotropin deficiency, Micropenis, Bifid uvula, Aplasia/hypo... |
ORPHA:672 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Hypoglycemia, Portal hypertension, Splenomegaly, Micronodular cirrhosis, Jaundice, ... |
OMIM:251880 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hepatic steatosis, Hypoglycemia |
OMIM:210200 |
Hyperparathyroidism, Transient Neonatal |
|
Ovarian cyst, Hyperparathyroidism, Enlarged kidney, Splenic cyst |
OMIM:618188 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Hypoglycemia |
OMIM:245400 |
Silver-Russell Syndrome 1 |
|
Testicular seminoma, Decreased response to growth hormone stimulation test, Fasting hypoglycemia,... |
OMIM:180860 |
Crimean-Congo Hemorrhagic Fever |
|
Hepatomegaly, Acute pancreatitis, Diffuse alveolar hemorrhage, Orchitis, Splenomegaly, Jaundice, ... |
ORPHA:99827 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hepatomegaly, Impaired glucose tolerance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, ... |
OMIM:248370 |
Neuroendocrine Tumor Of Stomach |
|
Hepatomegaly, Increased circulating ACTH level, Paraganglioma, Atypical pulmonary carcinoid tumor... |
ORPHA:100075 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Hypospadias, Cryptorchidism, Capillary hemangioma, Hypocalcemia, Hyperbilirub... |
ORPHA:163979 |
Ring Chromosome 10 Syndrome |
|
Hypocalcemia |
ORPHA:1438 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Hypoglycemia |
OMIM:246450 |
Aspartylglucosaminuria |
|
Macroorchidism, Hepatomegaly, Macroglossia |
OMIM:208400 |
Sarcoidosis |
|
Hepatomegaly, Hyperthyroidism, Diabetes insipidus, Hypercalcemia, Portal hypertension, Abnormal r... |
ORPHA:797 |
Raine Syndrome |
|
Hypophosphatemia |
OMIM:259775 |
Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Chronic oral candidiasis, Sinusitis, Severe periodontitis, Pneumonia, Lym... |
ORPHA:2968 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Splenomegaly, Neonatal hypoglycemia |
OMIM:619046 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Diabetes mellitus, Hypoglycemia |
ORPHA:391408 |
Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
Gracile Bone Dysplasia |
|
Asplenia, Micropenis, Hypoplastic spleen, Hypocalcemia |
OMIM:602361 |
Timothy Syndrome |
|
Hypothyroidism, Hypocalcemia |
OMIM:601005 |
Fructose Intolerance, Hereditary |
|
Hepatomegaly, Jaundice, Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia, Cirr... |
OMIM:229600 |
Marburg Hemorrhagic Fever |
|
Pericarditis, Hypoglycemia, Maculopapular exanthema, Skin rash, Orchitis, Jaundice, Uveitis, Arth... |
ORPHA:99826 |
Immunodeficiency, Common Variable, 10 |
|
Hypoglycemia, Decreased response to growth hormone stimulation test |
OMIM:615577 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Microvesicular hepatic steatosis, Hypoglycemia |
OMIM:611126 |
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Basal cell carcinoma, Gastrointestinal inflammation, Cutaneous melanoma, Squamous cell carcinoma |
ORPHA:79410 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Jaundice, Glycosuria, Hepatic periportal necrosis, Hepatic steatosis |
OMIM:231680 |
Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Hepatic steatosis, Hypoketotic hypoglycemia |
OMIM:255120 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
High, narrow palate, Gastrointestinal inflammation, Glucose intolerance, Inflammation of the larg... |
ORPHA:99413 |
Mosaic Monosomy X |
|
High, narrow palate, Gastrointestinal inflammation, Glucose intolerance, Inflammation of the larg... |
ORPHA:99228 |
Monosomy X |
|
High, narrow palate, Gastrointestinal inflammation, Glucose intolerance, Inflammation of the larg... |
ORPHA:99226 |
Turner Syndrome |
|
High, narrow palate, Gastrointestinal inflammation, Glucose intolerance, Inflammation of the larg... |
ORPHA:881 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Hypoglycemia |
OMIM:618253 |
Alport Syndrome 3A, Autosomal Dominant |
|
Azotemia, Hypophosphatemia |
OMIM:104200 |
Houge-Janssens Syndrome 1 |
|
Hypoglycemia |
OMIM:616355 |
Digeorge Syndrome |
|
Hepatic steatosis, Parathyroid agenesis, Decreased circulating parathyroid hormone level, Splenom... |
OMIM:188400 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Nonketotic hypoglycemia, Hepatomegaly, Hepatocellular necrosis, Periportal fibrosis, Hepatic stea... |
OMIM:201475 |
Phace Syndrome |
|
Visceral angiomatosis, Hypothyroidism, Capillary hemangioma, Ectopic thyroid |
ORPHA:42775 |
Treacher-Collins Syndrome |
|
Hypoplasia of penis, Small scrotum, Absent eyelashes, Cryptorchidism, Abnormal hair morphology, L... |
ORPHA:861 |
Smith-Kingsmore Syndrome |
|
Cryptorchidism, Hypoglycemia |
OMIM:616638 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Oropharyngeal squamous cell carcinoma, Villous atrophy, Inflammatory abnormality of the skin, Ecz... |
ORPHA:391487 |
Craniofacioskeletal Syndrome |
|
Absent gallbladder, Hypospadias, Hypocalcemia, Cryptorchidism |
OMIM:300712 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Insulin resistance, Hypoglycemia |
ORPHA:73272 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Hyperglycemia, Hypoglycemia |
OMIM:615453 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Anterior pituitary hypoplasia, Supernumerary nipple, Bilateral cryptorchidism, Cryptorchidism, Hi... |
ORPHA:466791 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Hypoglycemia |
OMIM:617710 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Biliary hyperplasia, Protein-losing enteropathy, Elevated hepatic iron concent... |
OMIM:619991 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Increased circulating free fatt... |
ORPHA:26793 |
Autosomal Recessive Malignant Osteopetrosis |
|
Splenomegaly, Hepatomegaly, Hypocalcemia, Hypophosphatemia |
ORPHA:667 |
Schinzel-Giedion Syndrome |
|
Sacrococcygeal teratoma, Streak ovary, Aganglionic megacolon, Nephroblastoma, Ependymoma, Annular... |
ORPHA:798 |
Bloom Syndrome |
|
Cryptorchidism, Lymphoma, Recurrent upper respiratory tract infections, Bronchiectasis, Squamous ... |
OMIM:210900 |
Williams Syndrome |
|
Hypoplasia of penis, Hypogonadotropic hypogonadism, Hypercalcemia, Elevated circulating creatine ... |
ORPHA:904 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Bicarbonaturia, Hypophosphatemia, Hypokalemia, Decreased circulating carnitine conc... |
ORPHA:3337 |
Hsd10 Disease, Infantile Type |
|
Hypoglycemia |
ORPHA:391428 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Absent gallbladder, High palate, Neonatal insulin-dependent diabetes mellitus, Pancreatic aplasia |
ORPHA:556955 |
Pituitary Apoplexy |
|
Hypoglycemia, Decreased response to growth hormone stimulation test, Elevated circulating growth ... |
ORPHA:95613 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Pulmonary carcinoid tumor, Papillary renal cell carcinoma, Abnormal intrahepatic bile duct morpho... |
ORPHA:363618 |
Blepharocheilodontic Syndrome 1 |
|
Neural tube defect |
OMIM:119580 |
Albers-Schönberg Osteopetrosis |
|
Hypocalcemia |
ORPHA:53 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Cryptorchidism, Recurrent hypoglycemia |
OMIM:616817 |
Bachmann-Bupp Syndrome |
|
Cryptorchidism, Hypoglycemia |
OMIM:619075 |
Feingold Syndrome 1 |
|
Accessory spleen, Jejunal atresia, Asplenia, Esophageal atresia, Patent ductus arteriosus, Trache... |
OMIM:164280 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Hypoglycemia, Microvesicular hepatic steatosis, Splenomegaly, Mac... |
OMIM:619418 |
Cog8-Cdg |
|
Hypoglycemia |
ORPHA:95428 |
Chromosome 17Q12 Deletion Syndrome |
|
Highly arched eyebrow, Sparse eyebrow, Cryptorchidism, Ovarian cyst, Aplasia of the vagina, High ... |
OMIM:614527 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati... |
ORPHA:572333 |
Fanconi Anemia, Complementation Group P |
|
Cryptorchidism, Squamous cell carcinoma |
OMIM:613951 |
Aica-Ribosuria Due To Atic Deficiency |
|
Hypoglycemia |
OMIM:608688 |
Jacobsen Syndrome |
|
Recurrent respiratory infections, Cryptorchidism, Pyloric stenosis, Optic atrophy, Annular pancreas |
OMIM:147791 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Spontaneous esophageal perforation, Esophageal stricture, Squamous cell carcinoma, Conjunctivitis... |
OMIM:226600 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Annular pancreas, Ankyloglossia, Cleft palate |
ORPHA:488642 |
Yellow Fever |
|
Pancreatic hyperplasia, Skin rash, Acute pancreatitis, Jaundice |
ORPHA:99829 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Exencephaly |
ORPHA:2211 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia... |
ORPHA:94093 |
Reni Syndrome |
|
Cryptorchidism, Hypoglycemia |
OMIM:617575 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Sparse scalp hair, Hypospadias, Anterior pituitary hypoplasia, Highly arched eyebrow, Sparse eyeb... |
OMIM:619841 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hyperthyroidism, Abnormality of the endocrine system, Splenomegaly, Thyroiditis, Abnormal blood i... |
ORPHA:37042 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Cryptorchidism, Hypoglycemia |
ORPHA:397590 |
Glutaric Acidemia I |
|
Hepatomegaly, Hypoglycemia |
OMIM:231670 |
Lipodystrophy, Familial Partial, Type 7 |
|
Impaired glucose tolerance, Spontaneous pneumothorax, Pulmonary arteriovenous malformation, Insul... |
OMIM:606721 |
Glucocorticoid Deficiency 1 |
|
Recurrent hypoglycemia |
OMIM:202200 |
Dopamine Beta-Hydroxylase Deficiency |
|
Insulin resistance, Rhinitis, Hyperinsulinemia, Hypoglycemia |
ORPHA:230 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Anteriorl... |
OMIM:201750 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Recurrent bacterial skin infections, Keratitis, Furrowed tongue, Squamous cell carcinoma, Hypohid... |
OMIM:148210 |
Osteopetrosis, Autosomal Recessive 1 |
|
Splenomegaly, Hepatomegaly, Hypocalcemia |
OMIM:259700 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... |
OMIM:610489 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Hypoglycemia |
OMIM:618835 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Hypoglycemia |
OMIM:618839 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Hepatomegaly, Hypoglycemia, Hepatocellular carcinoma, Microvesicular hepatic steatosis, Micronodu... |
OMIM:256810 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Nonketotic hypoglycemia, Hepatomegaly, Hypoglycemia, Lipid accumulation in hepatocytes, Hepatic c... |
OMIM:608836 |
Fryns Syndrome |
|
Ectopic pancreatic tissue, Aganglionic megacolon, Intestinal malrotation, Cryptorchidism, Esophag... |
OMIM:229850 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hypoglycemia, Intrahepatic cholestasis, Jaundice, Hepatic fibrosis, Hepatic steatosis |
OMIM:617093 |
Scorpion Envenomation |
|
Acute pancreatitis, Myocarditis, Hyperhidrosis, Glycosuria, Hyperglycemia, Pulmonary edema |
ORPHA:466677 |
1P36 Deletion Syndrome |
|
Cryptorchidism, Abnormality of the spleen, Hypothyroidism, Annular pancreas, Optic atrophy, Renal... |
ORPHA:1606 |
Atelis Syndrome 2 |
|
High palate, Patent ductus arteriosus, Elevated circulating thyroid-stimulating hormone concentra... |
OMIM:620185 |
Kid Syndrome |
|
Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit... |
ORPHA:477 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia |
ORPHA:289176 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Pulmonary artery dilatation, Intestinal malrotation, Asplenia, Esophageal atresia, Pulmonary arte... |
OMIM:265380 |
Jacobsen Syndrome |
|
Recurrent respiratory infections, Multicystic kidney dysplasia, Intestinal malrotation, Eczema, C... |
ORPHA:2308 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Cryptorchidism, Patent ductus arteriosus, Optic atrophy, Renal cyst, Furrowed tongue, High palate... |
OMIM:616975 |
Dent Disease |
|
Renal hypophosphatemia, Elevated circulating creatine kinase concentration |
ORPHA:1652 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Hypoglycemia, Intrahepatic cholestasis, Hepatitis, Chronic hepatitis, Increased hep... |
OMIM:614921 |
Congenital Tricuspid Stenosis |
|
Carcinoid tumor, Rheumatoid arthritis, Bacterial endocarditis |
ORPHA:95459 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Hepatomegaly, Hepatic steatosis, Hypoketotic hypoglycemia |
ORPHA:228305 |
Basilicata-Akhtar Syndrome |
|
Neonatal hypoglycemia |
OMIM:301032 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia |
OMIM:239000 |
Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... |
ORPHA:64 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Hyperglycemia, Hypoglycemia |
ORPHA:134 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Hyperphosphatemia |
OMIM:211900 |
Limb-Mammary Syndrome |
|
Alopecia, Absent nipple, Sparse eyebrow, Cleft hard palate, Primary amenorrhea, Cleft palate, Bil... |
ORPHA:69085 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Hypoglycemia |
OMIM:620275 |
Shashi-Pena Syndrome |
|
Hypoglycemia |
OMIM:617190 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Absent gallbladder, High palate, Type I diabetes mellitus, Pancreatic aplasia, Diabetes insipidus... |
OMIM:618500 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Thyroid hypoplasia, Congenital hypothyroidism |
ORPHA:521445 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia |
ORPHA:159 |
Tenorio Syndrome |
|
Hypoglycemia, Hypoinsulinemia |
OMIM:616260 |
D-Glyceric Aciduria |
|
Hypoglycemia |
OMIM:220120 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Neonatal hypoglycemia |
OMIM:617600 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Bile duct proliferation, Macrovesicular hepatic steatosis, Hypoglycemia |
OMIM:618329 |
Autosomal Dominant Hypocalcemia |
|
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia |
ORPHA:428 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hepatic calcification, Hyperaldosteronism, Hypocalcemia, Hypomagnesemia, Hypocalcemic tetany |
ORPHA:73224 |
Pancreatoblastoma |
|
Jaundice, Pancreatic calcification |
ORPHA:677 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Hypoglycemia |
OMIM:620300 |
Renal Cysts And Diabetes Syndrome |
|
Diabetes mellitus, Impaired glucose tolerance, Maturity-onset diabetes of the young, Biliary trac... |
OMIM:137920 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Small scrotum, Portal hypertension, Cholestasis, Hypoalbuminemia, Bile duct proliferation, Hypoca... |
OMIM:613658 |
Xq21 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Pi... |
ORPHA:1435 |
X-Linked Hypophosphatemia |
|
Hypophosphatemia |
ORPHA:89936 |
Bacterial Toxic-Shock Syndrome |
|
Elevated circulating creatine kinase concentration, Peritonitis, Elevated circulating creatinine ... |
ORPHA:36234 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Intestinal malrotation, Exocrine pancreatic insuffi... |
ORPHA:2255 |
Orthostatic Hypotension 1 |
|
Neonatal hypoglycemia, Reduced circulating prolactin concentration |
OMIM:223360 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Absent nipple, Aplasia of the thymus, Sparse eyebrow, Congenital hypothyroidism, Hydrocele testis... |
OMIM:620186 |
Stüve-Wiedemann Syndrome |
|
Hypothyroidism, Smooth tongue, Ectopic thyroid |
ORPHA:3206 |
Apparent Mineralocorticoid Excess |
|
Hypokalemia, Decreased circulating aldosterone level, Abnormality of circulating cortisol level, ... |
ORPHA:320 |
Isolated Posterior Meningocele |
|
Hydrocephalus, Meningocele, Lipomyelomeningocele, Neural tube defect, Occipital meningocele |
ORPHA:268810 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Hypoalbuminemia, Hypocalcemia, Elevated circulating C-reactive protein concentration |
ORPHA:247353 |
Williams-Beuren Syndrome |
|
Diabetes mellitus, Hypercalcemia, Portal hypertension, Early onset of sexual maturation, Micropen... |
OMIM:194050 |
Cholera |
|
Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration |
ORPHA:173 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Esophageal stenosis, Recurrent skin infections, Anal fissure, Esophageal stricture, Squamous cell... |
ORPHA:89842 |
Mirage Syndrome |
|
Cryptorchidism, Hypoplastic spleen, Hypoglycemia, Decreased testicular size |
OMIM:617053 |
Rothmund-Thomson Syndrome Type 1 |
|
Myelodysplasia, Cryptorchidism, Squamous cell carcinoma, Basal cell carcinoma, Melanoma, Hypogona... |
ORPHA:221008 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Hypoglycemia, Supernumerary nipple |
ORPHA:457279 |
Osteopetrosis With Renal Tubular Acidosis |
|
Hepatomegaly, Hypocalcemia, Elevated circulating creatine kinase concentration, Secondary hyperpa... |
ORPHA:2785 |
Hennekam Syndrome |
|
Benign neoplasm of the central nervous system, Splenomegaly, Hypocalcemia |
ORPHA:2136 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Cryptorchidism, Neonatal hypoglycemia |
ORPHA:457485 |
Immunodeficiency 59 And Hypoglycemia |
|
Hepatomegaly, Hypoglycemia, Prolonged neonatal jaundice |
OMIM:233600 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Splenomegaly, Hepatomegaly, Jaundice, Hypoglycemia |
OMIM:608779 |
22Q11.2 Deletion Syndrome |
|
Hypoparathyroidism, Hyperthyroidism, Hypospadias, Cryptorchidism, Splenomegaly, Hypoplasia of the... |
ORPHA:567 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Cardiomegaly, Cleft palate, Polycystic ovaries |
ORPHA:137675 |
Hypoplasminogenemia |
|
Cervicitis, Duodenal ulcer, Abnormality of the ovary, Abnormal fallopian tube morphology |
ORPHA:722 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Hypocalcemia |
OMIM:618476 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Cholestasis, Hypoketotic hypoglycemia |
OMIM:609015 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Atypical or prolonged hepatitis, Thyroiditis, Hypocalcemic tetany, Hypothy... |
ORPHA:83471 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Hypoglycemia, Neonatal hypoglycemia |
OMIM:619055 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypoglycemia, Microvesicular hepatic steatosis, Jaundice, Cholestasis, Cirrhosis |
OMIM:617156 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hyperbilirubinemia |
OMIM:259720 |
Johanson-Blizzard Syndrome |
|
Hepatomegaly, Diabetes mellitus, Hypospadias, Septate vagina, Urethrovaginal fistula, Conjugated ... |
OMIM:243800 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Hypoglycemia, Hypoglycemic seizures |
ORPHA:480864 |
Isolated Complex I Deficiency |
|
Hepatomegaly, Diabetes mellitus, Hypoglycemia |
ORPHA:2609 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Cryptorchidism, Neonatal hypoglycemia |
ORPHA:565624 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Hypoglycemia |
OMIM:619355 |
Silver-Russell Syndrome |
|
Insulin resistance, Cryptorchidism, Recurrent hypoglycemia, Decreased testicular size |
ORPHA:813 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Cryptorchidism, Hypoglycemia |
OMIM:620224 |
Malignant Hyperthermia Of Anesthesia |
|
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia |
ORPHA:423 |
3-Methylglutaconic Aciduria Type 7 |
|
Hepatic steatosis, Neonatal hypoglycemia |
ORPHA:445038 |
Sotos Syndrome |
|
Cryptorchidism, Glucose intolerance, Neonatal hypoglycemia, Prolonged neonatal jaundice |
OMIM:117550 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Splenomegaly, Hypokalemia, Hypocalcemia |
OMIM:617913 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Nonketotic hypoglycemia, Hepatic steatosis |
ORPHA:99901 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Hypoglycemia, Decreased response to growth hormone stimulation test |
OMIM:616007 |
Charge Syndrome |
|
Hypoparathyroidism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
OMIM:214800 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Jaundice, Hypoglycemia |
OMIM:615751 |
Dilated Cardiomyopathy With Ataxia |
|
Bilateral cryptorchidism, Microvesicular hepatic steatosis, Neonatal hypoglycemia |
ORPHA:66634 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Alopecia, Thyroid hypoplasia, Adrenal hypoplasia |
OMIM:308050 |
Tyrosinemia, Type I |
|
Hepatomegaly, Hypoglycemia, Splenomegaly, Pancreatic islet-cell hyperplasia, Cirrhosis, Hepatocel... |
OMIM:276700 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Neonatal hypoglycemia |
OMIM:608624 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Hypoglycemia |
OMIM:210210 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypoglycemia, Cholangitis, Microvesicular hepatic steatosis, Cholestasis, Periportal fibrosis, Re... |
OMIM:124000 |
Cartilage-Hair Hypoplasia |
|
Hepatomegaly, Hypocalcemia, Abnormality of the pancreas |
ORPHA:175 |
Shigellosis |
|
Splenic abscess, Peritonitis, Hypoglycemia, Cholestasis |
ORPHA:810 |
Perlman Syndrome |
|
Cryptorchidism, Pancreatic islet-cell hyperplasia, Hypoglycemia |
OMIM:267000 |
Leigh Syndrome |
|
Hypoglycemia |
ORPHA:506 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Hypoglycemia |
OMIM:616878 |
3-Methylglutaconic Aciduria, Type Viib |
|
Hepatic steatosis, Neonatal hypoglycemia |
OMIM:616271 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Hypoglycemia |
OMIM:618005 |
Kindler Epidermolysis Bullosa |
|
Recurrent skin infections, Esophageal stricture, Neoplasm of the urethra, Cheilitis, Squamous cel... |
ORPHA:2908 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hepatomegaly, Hypoglycemia, Hepatosplenomegaly, Cholecystitis, Cholelithiasis |
OMIM:301066 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hepatomegaly, Anterior pituitary hypoplasia, Portal hypertension, Congenital hepatic fibrosis, Ja... |
OMIM:619534 |
Cerebral Visual Impairment |
|
Neonatal hypoglycemia |
ORPHA:447788 |
Holoprosencephaly |
|
Diabetes mellitus, Hypoglycemia, Cryptorchidism, Abnormality of the spleen, Anterior hypopituitar... |
ORPHA:2162 |
Ethylene Glycol Poisoning |
|
Hyperkalemia, Hypocalcemia |
ORPHA:31826 |
Oculodentodigital Dysplasia |
|
Hypoglycemia |
ORPHA:2710 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Neonatal hypoglycemia |
ORPHA:35173 |
Pyruvate Carboxylase Deficiency |
|
Hepatomegaly, Hyperglycemia, Hypoglycemia |
ORPHA:3008 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Hepatic calcification, Hypoketotic hypoglycemia |
ORPHA:157 |
Congenital Disorder Of Glycosylation, Type Im |
|
Hypoketotic hypoglycemia |
OMIM:610768 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract |
OMIM:600145 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Hepatomegaly, Hepatic steatosis, Hypoglycemia |
ORPHA:17 |
Hemorrhagic Fever-Renal Syndrome |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration |
ORPHA:340 |
Exercise-Induced Malignant Hyperthermia |
|
Hypocalcemia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
ORPHA:466650 |
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
Hypoglycemia |
OMIM:614501 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Hepatic steatosis, Hepatic calcification, Hypoketotic hypoglycemia |
ORPHA:228308 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Multicystic kidney dysplasia, Recurrent skin infections, Pneumonia, Esophageal stricture, Pneumot... |
ORPHA:79404 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Neonatal hypoglycemia |
ORPHA:572798 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Cryptorchidism, Insulin resistance, Decreased response to growth hormone stimulation test, Fastin... |
ORPHA:96182 |
Cranioectodermal Dysplasia 1 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Hepatic fibrosis, Hypocalcemia, Hepatic c... |
OMIM:218330 |
Simpson-Golabi-Behmel Syndrome |
|
Hepatomegaly, Hypoglycemia, Supernumerary nipple, Cryptorchidism, Splenomegaly, Pancreatic islet-... |
ORPHA:373 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Jaundice, Hypoglycemia |
ORPHA:79282 |
Kabuki Syndrome 2 |
|
Neonatal hypoglycemia |
OMIM:300867 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Splenomegaly, Hepatomegaly, Hypoglycemia |
OMIM:252010 |
Alg12-Cdg |
|
Cryptorchidism, Recurrent hypoglycemia |
ORPHA:79324 |
Isotretinoin-Like Syndrome |
|
Hypocalcemia |
ORPHA:2306 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Fasting hypoglycemia |
ORPHA:25 |
Pmm2-Cdg |
|
Pericarditis, Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentration, I... |
ORPHA:79318 |
Renal Agenesis, Bilateral |
|
Nonketotic hypoglycemia |
ORPHA:1848 |
Menkes Disease |
|
Hypoglycemia, Prolonged neonatal jaundice |
ORPHA:565 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Abnormality of the endocrine system, Cryptorchidism, Precocious puberty, Abnormality of the anter... |
ORPHA:438213 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cryptorchidism, Pancreatic hyperplasia, Hepatoblastoma, Neonatal hypoglycemia |
OMIM:130650 |
Acute Liver Failure |
|
Hypoglycemia, Jaundice, Hepatitis, Hepatic necrosis, Hepatocellular necrosis, Hepatic periportal ... |
ORPHA:90062 |
Alobar Holoprosencephaly |
|
Hydrocephalus, Flexion contracture, Abnormal heart morphology, Abnormal heart rate variability, N... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Hydrocephalus, Flexion contracture, Abnormal heart morphology, Abnormal heart rate variability, N... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Hydrocephalus, Flexion contracture, Abnormal heart morphology, Abnormal heart rate variability, N... |
ORPHA:93924 |
Semilobar Holoprosencephaly |
|
Hydrocephalus, Flexion contracture, Abnormal heart morphology, Abnormal heart rate variability, N... |
ORPHA:220386 |
African Trypanosomiasis |
|
Hepatomegaly, Abnormality of the menstrual cycle, Abnormality of the endocrine system, Splenomega... |
ORPHA:3385 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Microvesicular hepatic steatosis, Increased hepatocellular lipid droplets, Hypoglycemia, Hypergly... |
OMIM:220111 |
Neurooculorenal Syndrome |
|
Cryptorchidism, Ectopic posterior pituitary, Recurrent hypoglycemia |
OMIM:620305 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Small scrotum, Hypocalcemia |
OMIM:620330 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Neonatal hypoglycemia |
OMIM:261740 |
3-Methylglutaconic Aciduria, Type Viii |
|
Jaundice, Neonatal hypoglycemia |
OMIM:617248 |
Costello Syndrome |
|
Hypoglycemia |
OMIM:218040 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Pseudohypoparathyroidism |
OMIM:617157 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Neonatal hypoglycemia |
ORPHA:457359 |
Holoprosencephaly 1 |
|
Hypoglycemia |
OMIM:236100 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Decreased testicular size, Testicular adrenal rest tumor, Neonatal hypoglycemia |
ORPHA:90794 |