Rare endocrinological diseases are characterized by excessive, reduced or inappropriate hormone production, resistance to hormonal activity, neoplasms or genetic diseases of endocrine organs. Their epidemiological distribution is extremely variable, ranging from ultra-rare forms to conditions with low prevalence. Patients with rare endocrinological disease require highly specialized care, delivered by multi-disciplinary teams, coordinated by an endocrinologist.
Endo-ERN, the European network of centers dealing with rare diseases, includes eight sectors (defined as MTG, Main Thematic Group). The Padua hospital covers all eight MTGs envisaged:
Endo-ERN brings together the work of severalinstitutions, stakeholders, scientific societies, and European institutions, including the European Society of Endocrinology and the European Society of Pediatric Endocrinology.
The objective of endo-ERN is to improve the diagnostic-therapeutic pathways, the quality of care and the measurement of outcomes of patients with rare endocrinological diseases, involving family members and patient associations (ePAG, European Patient Advocacy Groups), facilitating collaboration and international multidisciplinary training.
Code ORPHA | Code ERN | Denomination |
---|---|---|
ICD-10:F64 | Transgender, Female to male | |
ICD-10:F64 | Transgender, Male to female | |
ORPHA:100088 | Non-metastatic thyroid carcinoma | |
ORPHA:101952 | Rare diabetes | |
ORPHA:101959 | Primary Adrenal Insufficiency | |
ORPHA:116 | Beckwith-Wiedemann Syndrome | |
ORPHA:1359 | Carney Complex | |
ORPHA:15 | Achondroplasia | |
ORPHA:1501 | Adrenocortical carcinomas | |
ORPHA:157215 | Hereditary hypophosphataemic rickets with hypercalciuria [ORPHA:157215] | |
ORPHA:181368 | Insulin resistance syndrome | |
ORPHA:181405 | Hypoparathyroidism | |
ORPHA:181408 | Hyperparathyroidism including parathyroid cancer [ORPHA:181408] | |
ORPHA:183631 | Thyroid hormone signaling disorders | |
ORPHA:235936 | Familial hyperaldosteronism | |
ORPHA:240 | Léri-Weill dyschondrosteosis | |
ORPHA:276525 | Hyperinsulinism | |
ORPHA:276624 | Sporadic PCC/PGL | |
ORPHA:289157 | Hypocalcaemic vitamin D dependent rickets | |
ORPHA:289176 | Autosomal recessive hypophosphataemic rickets [ORPHA:289176] | |
ORPHA:29072 | Hereditary PCC/PGL | |
ORPHA:2965 | Prolactin secreting adenoma | |
ORPHA:2982 | XX DSD | |
ORPHA:300547 | PTH independent hypercalcaemia | |
ORPHA:306661 | Familial hyperphosphataemic tumoural calcinosis [ORPHA:306661] | |
ORPHA:3143 | autoimmune polyglandular syndrome | |
ORPHA:325546 | Chromosomal DSD | |
ORPHA:3453 | autoimmune polyglandular syndrome | |
ORPHA:352540 | Oncogenic osteomalacia | |
ORPHA:405 | Familial hypocalciuric hypercalcaemia | |
ORPHA:418 | Congenital adrenal hyperplasia | |
ORPHA:424 | Congenital Hyperthyroidism | |
ORPHA:432 | Isolated Congenital Normosmic Hypogonadotrophic Hypogonadism [ORPHA:432] | |
ORPHA:436 | Hypophosphatasia | |
ORPHA:437 | Hypophosphataemic rickets | |
ORPHA:442 | Congenital Hypothyroidism | |
ORPHA:443287 | Cortisol producing adenomas | |
ORPHA:478 | Isolated Congenital Anosmic Hypogonadotrophic Hypogonadism [ORPHA:478] | |
ORPHA:553 | Cushing's Syndrome | |
ORPHA:633 | GH Resistance syndromes | |
ORPHA:648 | Noonan Syndrome | |
ORPHA:652 | MEN Type 1 | |
ORPHA:653 | MEN Type 2 | |
ORPHA:666 | Osteogenesis imperfecta | |
ORPHA:739 | Prader Willi Syndrome and Prader Willi-like Syndrome [ORPHA:739] | |
ORPHA:77828 | Rare Genetic Obesity | |
ORPHA:813 | Silver Russell Syndrome | |
ORPHA:892 | Von Hippel Lindau Syndrome (VHL) | |
ORPHA:89936 | X-linked hypophosphataemia | |
ORPHA:89937 | Autosomal dominant hypophosphataemic rickets [ORPHA:89937] | |
ORPHA:91347 | TSH-secreting pituitary adenoma | |
ORPHA:91349 | Non-functioning pituitary adenoma | |
ORPHA:93160 | Hypocalcaemic vitamin D resistant rickets | |
ORPHA:93460 | Overgrowth Syndrome | |
ORPHA:95494 | Congenital Hypopituitarism | |
ORPHA:95502 | Acquired Hypopituitarism | |
ORPHA:963 | Acromegaly | |
ORPHA:97593 | Pseudohypoparathyroidism | |
ORPHA:98085 | XY DSD | |
ORPHA:99408 | Pituitary Adenoma |