SE-ATLAS

Alcaptonurie Adénome producteur d'aldostérone MODY Différence du développement sexuel 46,XY d'origine endocrine Tumeur de l'hypophyse Acromégalie Rachitisme hypocalcémique résistant à la vitamine D Pseudohypoparathyroïdie type 1C Prolactinome Néphropathie tubulo-interstitielle autosomique dominante associée à HNF1B Syndrome hypoglycémique auto-immun Maladie rare avec un syndrome de Cushing surrénalien comme manifestation majeure Hypertension par mutation gain de fonction du récepteur aux minéralocorticoïdes Néoplasie endocrinienne multiple type 1 Néoplasie endocrinienne multiple type 2 Hyperinsulinisme congénital isolé Tumeur sécrétrice de catécholamines MELAS Syndrome de Cushing Syndrome de Cushing indépendant de l'ACTH Diabète sucré rare Syndrome de Cushing endogène Syndrome de Cushing surrénalien Pseudohypoparathyroïdie type 1A Maladie de Dent Syndrome de Cushing par sécrétion ectopique d'ACTH Syndrome de Cushing dépendant de l'ACTH Déficit hypophysaire Polyendocrinopathie Insuffisance surrénale primaire chronique acquise Pseudopseudohypoparathyroïdie Syndrome d'insensibilité partielle aux androgènes 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 Acquired pituitary hormone deficiency Medullary thyroid carcinoma Pseudohypoparathyroidism Apparent mineralocorticoid excess Hypocalcemic rickets Disorders of vitamin D metabolism Familial hyperprolactinemia Pituitary carcinoma Glycogen storage disease due to acid maltase deficiency Pituitary apoplexy Hypocalcemic vitamin D-dependent rickets Familial hyperaldosteronism type III Hereditary pheochromocytoma-paraganglioma Familial hyperaldosteronism type I Familial hyperaldosteronism type II Familial hypocalciuric hypercalcemia Nebennierenhyperplasie, kongenitale Hyperaldosteronismus, familiärer Hypoaldosteronismus, familiärer hyperreninämischer, Typ 1 Hypoaldosteronismus, familiärer hyperreninämischer, Typ 2 Ovarialinsuffizienz, vorzeitige, erworbene Adrenokortikales Karzinom Kallmann-Syndrom Ovarialinsuffizienz, vorzeitige, nicht-erworbene Myopathie - Diabetes mellitus Nebenniereninsuffizienz, chronische primäre Lipodystrophie, erworbene Insulinresistenz-Syndrom Typ A Insulinresistenz-Syndrom Typ B Adipositas, syndromale Androgeninsensitivitätssyndrom Seltener Schilddrüsentumor Seltenes Schilddrüsenkarzinom Cushing-Krankheit Lipodystrophie, lokale Pseudohypoaldosteronismus Typ 2 Schilddrüsenkarzinom, papilläres oder follikuläres, familiäre Form Insulinom