SE-ATLAS

Alkaptonuria Aldosterone-producing adenoma MODY 46,XY difference of sex development of endocrine origin Pituitary tumor Acromegaly Hypocalcemic vitamin D-resistant rickets Pseudohypoparathyroidism type 1C Prolactinoma HNF1B-related autosomal dominant tubulointerstitial kidney disease Insulin autoimmune syndrome Rare disease with adrenal Cushing syndrome as a major feature Hypertension due to gain-of-function mutations in the mineralocorticoid receptor Multiple endocrine neoplasia type 1 Multiple endocrine neoplasia type 2 Congenital isolated hyperinsulinism Catecholamine-producing tumor MELAS Cushing syndrome ACTH-independent Cushing syndrome Rare diabetes mellitus Endogenous Cushing syndrome Adrenal Cushing syndrome Pseudohypoparathyroidism type 1A Dent disease Cushing syndrome due to ectopic ACTH secretion ACTH-dependent Cushing syndrome Pituitary deficiency Polyendocrinopathy Acquired chronic primary adrenal insufficiency Pseudopseudohypoparathyroidism Partial androgen insensitivity syndrome Familial hypocalciuric hypercalcemia type 2 Multiple endocrine neoplasia type 4 Peripheral resistance to thyroid hormones Hyperandrogenism due to cortisone reductase deficiency Familial hypocalciuric hypercalcemia type 3 Multiple endocrine neoplasia Overgrowth/obesity syndrome X-linked hypophosphatemia Triple A syndrome Tumor of endocrine glands Von Hippel-Lindau disease Pseudohypoparathyroidism type 1B Multiple endocrine neoplasia type 2A Cushing syndrome due to bilateral macronodular adrenocortical disease Osteonecrosis Primary lipodystrophy Neuroendocrine neoplasm Non-functioning paraganglioma Pseudohypoparathyroidism type 2 Multiple endocrine neoplasia type 2B Alpha-mannosidosis Hartnup disease Beta-mannosidosis Congenital disorder of glycosylation Carnitine palmitoyltransferase II deficiency Systemic primary carnitine deficiency Multiple acyl-CoA dehydrogenase deficiency Very long chain acyl-CoA dehydrogenase deficiency Disorder of fructose metabolism Disorder of galactose metabolism Fructose-1,6-bisphosphatase deficiency Gaucher disease Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia Chronic visceral acid sphingomyelinase deficiency Infantile neurovisceral acid sphingomyelinase deficiency Leigh syndrome Maple syrup urine disease Mucopolysaccharidosis type 1 Lysinuric protein intolerance Argininosuccinic aciduria Mucopolysaccharidosis type 2 Medium chain acyl-CoA dehydrogenase deficiency Mucopolysaccharidosis type 4 Mucopolysaccharidosis type 6 Ornithine transcarbamylase deficiency Phenylketonuria Neurometabolic disorder due to serine deficiency Niemann-Pick disease type C, juvenile neurologic onset Familial nonmedullary thyroid carcinoma VIPoma Genetic obesity Familial medullary thyroid carcinoma Pituitary adenoma Acute adrenal insufficiency Complete androgen insensitivity syndrome Pituitary resistance to thyroid hormone Rare diabetes mellitus type 1 Rare insulin-resistance syndrome Rare diabetes mellitus type 2 Other rare diabetes mellitus Sporadic pheochromocytoma/secreting paraganglioma Anaplastic thyroid carcinoma Differentiated thyroid carcinoma Addison disease Growth hormone insensitivity syndrome Sporadic pheochromocytoma Generalized resistance to thyroid hormone Sporadic secreting paraganglioma Adrenogenital syndrome Familial hypocalciuric hypercalcemia type 1 Rare genetic diabetes mellitus Idiopathic juvenile osteoporosis Ectopic aldosterone-producing tumor Maternally-inherited diabetes and deafness Non-acquired pituitary hormone deficiency Insuffisance hypophysaire acquise Cancer médullaire de la thyroïde Pseudo-hypoparathyroïdie Excès apparent de minéralocorticoïdes Rachitisme hypocalcémique Troubles du métabolisme de la vitamine D Hyperprolactinémie familiale Carcinome hypophysaire Glycogénose par déficit en maltase acide Apoplexie hypophysaire Rachitisme hypocalcémique vitamine D-dépendant Hyperaldostéronisme familial type III Phéochromocytome-paragangliome héréditaire Hyperaldostéronisme familial type I Hyperaldostéronisme familial type II Hypercalcémie hypocalciurique familiale Hyperplasie congénitale des surrénales Hyperaldostéronisme familial Hypoaldostéronisme hyperréninémique familial type 1 Hypoaldostéronisme hyperréninémique familial type 2 Insuffisance ovarienne précoce acquise Corticosurrénalome Syndrome de Kallmann Insuffisance ovarienne précoce non acquise Syndrome de myopathie-diabète sucré Insuffisance surrénale primaire chronique Lipodystrophie acquise Syndrome d'insulino-résistance type A Syndrome d'insulino-résistance type B Obésité syndromique Syndrome d'insensibilité aux androgènes Tumeur rare de la thyroïde Carcinome rare de la thyroïde Maladie de Cushing Lipodystrophie localisée Pseudohypoaldostéronisme type 2 Carcinome papillaire ou folliculaire familial de la thyroïde Insulinome