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Home > European References Networks > ENDO-ERN - European Reference Network on Rare Endocrinological Diseases

ENDO-ERN - European Reference Network on Rare Endocrinological Diseases

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:

  • MTG1 – Adrenal;
  • MTG2 - Disorders of Calcium & Phosphate Homeostasis;
  • MTG3 - Genetic disorders of Glucose & Insulin Homeostasis;
  • MTG4 - Genetic Endocrine Tumor Syndromes;
  • MTG5 - Growth & Genetic Obesity Syndromes;
  • MTG6 – Pituitary;
  • MTG7 - Sex Development & Maturation;
  • MTG8 – Thyroid.

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.

Related Structures

UOC Endocrinologia
UOC Clinica Medica 3
UOC Endocrinochirurgia
UOC Endocrinologia
UOC Clinica Medica 3
UOC Endocrinochirurgia
UOSD Endocrinologia Pediatrica
UOSD Endocrinologia Pediatrica

Desease list

Code ORPHACode ERNDenomination
ICD-10:F64Transgender, Female to male
ICD-10:F64Transgender, Male to female
ORPHA:100088Non-metastatic thyroid carcinoma
ORPHA:101952Rare diabetes
ORPHA:101959Primary Adrenal Insufficiency
ORPHA:116Beckwith-Wiedemann Syndrome
ORPHA:1359Carney Complex
ORPHA:15Achondroplasia
ORPHA:1501Adrenocortical carcinomas
ORPHA:157215Hereditary hypophosphataemic rickets with hypercalciuria [ORPHA:157215]
ORPHA:181368Insulin resistance syndrome
ORPHA:181405Hypoparathyroidism
ORPHA:181408Hyperparathyroidism including parathyroid cancer [ORPHA:181408]
ORPHA:183631Thyroid hormone signaling disorders
ORPHA:235936Familial hyperaldosteronism
ORPHA:240Léri-Weill dyschondrosteosis
ORPHA:276525Hyperinsulinism
ORPHA:276624Sporadic PCC/PGL
ORPHA:289157Hypocalcaemic vitamin D dependent rickets
ORPHA:289176Autosomal recessive hypophosphataemic rickets [ORPHA:289176]
ORPHA:29072Hereditary PCC/PGL
ORPHA:2965Prolactin secreting adenoma
ORPHA:2982XX DSD
ORPHA:300547PTH independent hypercalcaemia
ORPHA:306661Familial hyperphosphataemic tumoural calcinosis [ORPHA:306661]
ORPHA:3143autoimmune polyglandular syndrome
ORPHA:325546Chromosomal DSD
ORPHA:3453autoimmune polyglandular syndrome
ORPHA:352540Oncogenic osteomalacia
ORPHA:405Familial hypocalciuric hypercalcaemia
ORPHA:418Congenital adrenal hyperplasia
ORPHA:424Congenital Hyperthyroidism
ORPHA:432Isolated Congenital Normosmic Hypogonadotrophic Hypogonadism [ORPHA:432]
ORPHA:436Hypophosphatasia
ORPHA:437Hypophosphataemic rickets
ORPHA:442Congenital Hypothyroidism
ORPHA:443287Cortisol producing adenomas
ORPHA:478Isolated Congenital Anosmic Hypogonadotrophic Hypogonadism [ORPHA:478]
ORPHA:553Cushing's Syndrome
ORPHA:633GH Resistance syndromes
ORPHA:648Noonan Syndrome
ORPHA:652MEN Type 1
ORPHA:653MEN Type 2
ORPHA:666Osteogenesis imperfecta
ORPHA:739Prader Willi Syndrome and Prader Willi-like Syndrome [ORPHA:739]
ORPHA:77828Rare Genetic Obesity
ORPHA:813Silver Russell Syndrome
ORPHA:892Von Hippel Lindau Syndrome (VHL)
ORPHA:89936X-linked hypophosphataemia
ORPHA:89937Autosomal dominant hypophosphataemic rickets [ORPHA:89937]
ORPHA:91347TSH-secreting pituitary adenoma
ORPHA:91349Non-functioning pituitary adenoma
ORPHA:93160Hypocalcaemic vitamin D resistant rickets
ORPHA:93460Overgrowth Syndrome
ORPHA:95494Congenital Hypopituitarism
ORPHA:95502Acquired Hypopituitarism
ORPHA:963Acromegaly
ORPHA:97593Pseudohypoparathyroidism
ORPHA:98085XY DSD
ORPHA:99408Pituitary Adenoma