List of rare endocrine diseases

List of rare Endocrine Diseases

• 11-beta-hydroxylase deficiency
• 17-alpha-hydroxylase deficiency
• 17-beta hydroxysteroid dehydrogenase 3 deficiency
• 18 Hydroxylase deficiency
• 22q11.2 deletion syndrome
• 3-alpha hydroxyacyl-CoA dehydrogenase deficiency
• 3-beta-hydroxysteroid dehydrogenase deficiency
• 46,XX testicular disorder of sex development
• 47 XXX syndrome
• 48,XXXY syndrome
• 49,XXXXY syndrome
• 5-alpha reductase deficiency
• Abetalipoproteinemia
• Acquired generalized lipodystrophy
• Acromegaly
• ACTH-independent macronodular adrenal hyperplasia
• ACTH-secreting pituitary adenoma
• Addison's disease
• Adrenocortical carcinoma
• Adrenomyeloneuropathy
• Adrenomyodystrophy
• Ahumada Del Castillo syndrome
• Allan-Herndon-Dudley syndrome
• Alpha-thalassemia x-linked intellectual disability syndrome
• Alström syndrome
• Anorchia
• Arachnoid cysts
• AREDYLD
• Aromatase deficiency
• Aromatase excess syndrome
• Ataxia - hypogonadism - choroidal dystrophy
• Ataxia telangiectasia
• Autoimmune polyglandular syndrome type 1
• Autoimmune polyglandular syndrome type 2
• Autoimmune polyglandular syndrome type 3
• Axenfeld-Rieger syndrome
• Ayazi syndrome
• Bamforth syndrome
• Bangstad syndrome
• Barakat syndrome
• Bardet-Biedl syndrome
• Bardet-Biedl syndrome 1
• Bardet-Biedl syndrome 10
• Bardet-Biedl syndrome 11
• Bardet-Biedl syndrome 12
• Bardet-Biedl syndrome 2
• Barraquer-Simons syndrome
• Beta-thalassemia
• Borjeson-Forssman-Lehmann syndrome
• Brain-lung-thyroid syndrome
• Campomelic dysplasia
• Carney complex
• Carney triad
• Carpenter syndrome
• Central nervous system germinoma
• Cerebellar ataxia and hypogonadotropic hypogonadism
• Cerebrotendinous xanthomatosis
• CHARGE syndrome
• Childhood-onset cerebral X-linked adrenoleukodystrophy
• Cholesteryl ester storage disease
• Chordoma
• Chylomicron retention disease
• Coffin-Lowry syndrome
• Cohen syndrome
• Combined pituitary hormone deficiencies, genetic forms
• Complete androgen insensitivity syndrome
• Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
• Congenital generalized lipodystrophy
• Congenital generalized lipodystrophy type 2 - See Congenital generalized lipodystrophy
• Congenital generalized lipodystrophy type 4
• Corticosteroid-binding globulin deficiency
• Craniopharyngioma
• Culler-Jones syndrome
• Cushing's syndrome
• Dahlberg Borer Newcomer syndrome
• Deafness hypogonadism syndrome
• Dentatorubral-pallidoluysian atrophy
• Denys-Drash syndrome
• Diencephalic syndrome
• Dilated cardiomyopathy with hypergonadotropic hypogonadism
• Epiphyseal dysplasia multiple with early-onset diabetes mellitus
• Familial glucocorticoid deficiency
• Familial HDL deficiency
• Familial hyperaldosteronism type 2
• Familial hyperaldosteronism type III
• Familial hyperthyroidism due to mutations in TSH receptor
• Familial hypocalciuric hypercalcemia type 1
• Familial hypocalciuric hypercalcemia type 2
• Familial hypocalciuric hypercalcemia type 3
• Familial LCAT deficiency
• Familial lipoprotein lipase deficiency
• Familial partial lipodystrophy associated with PLIN1 mutations - See Familial partial lipodystrophy
• Familial partial lipodystrophy associated with PPARG mutations
• Familial partial lipodystrophy due to AKT2 mutations - See Familial partial lipodystrophy
• Familial partial lipodystrophy type 2
• Familial partial lipodystrophy type Köbberling
• Familial thyroglossal duct cyst
• Fish-eye disease
• Follicle-stimulating hormone deficiency, isolated
• Fragile X syndrome
• Frasier syndrome
• Galactokinase deficiency
• Genito palato cardiac syndrome
• Gigantism
• Glucocorticoid-remediable aldosteronism
• Goblet cell carcinoid
• Granulomatous hypophysitis
• Graves disease - Not a rare disease.
• Growth hormone deficiency
• Hepatic lipase deficiency
• Hereditary hyperekplexia
• Hereditary pancreatitis
• Hereditary paraganglioma-pheochromocytoma
• Histiocytosis-lymphadenopathy plus syndrome
• Holoprosencephaly
• Hydrocephalus obesity hypogonadism
• Hyperadrenalism
• Hyperinsulinism due to glucokinase deficiency
• Hyperinsulinism-hyperammonemia syndrome
• Hyperlipidemia type 3
• Hyperlipoproteinemia type 5
• Hyperparathyroidism-jaw tumor syndrome
• Hypocalcemia, autosomal dominant
• Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia
• Hypoparathyroidism
• Hypoparathyroidism-intellectual disability-dysmorphism syndrome
• Hypophosphatemic rickets
• Hypopituitarism
• IMAGe syndrome
• Immunodysregulation, polyendocrinopathy and enteropathy X-linked
• Insulin-like growth factor 1 resistance to
• Insulin-like growth factor I deficiency
• Insulin-resistance type B
• Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity
• Iodine antenatal exposure
• Isolated ACTH deficiency
• Isolated growth hormone deficiency type 1A
• Isolated growth hormone deficiency type 3
• Johanson-Blizzard syndrome
• Kallmann syndrome
• Kallmann syndrome 1
• Kearns-Sayre syndrome
• Kenny-Caffey syndrome type 1
• Kenny-Caffey syndrome type 2
• Kowarski syndrome
• Langerhans cell histiocytosis
• Laron syndrome
• Laurence-Moon syndrome
• LCHAD deficiency
• Leprechaunism
• Li-Fraumeni syndrome
• LIPE-related familial partial lipodystrophy - See Familial partial lipodystrophy
• Lipodystrophy due to peptidic growth factors deficiency
• Lipodystrophy, familial partial, type 5 - See Familial partial lipodystrophy
• LRBA deficiency
• Lubinsky syndrome
• Male pseudohermaphroditism intellectual disability syndrome, Verloes type
• Mandibuloacral dysplasia with type A lipodystrophy
• Mandibuloacral dysplasia with type B lipodystrophy
• Martsolf syndrome
• Maternally inherited diabetes and deafness
• Maturity-onset diabetes of the young
• Maturity-onset diabetes of the young, type 1 - See Maturity-onset diabetes of the young
• Maturity-onset diabetes of the young, type 2 - See Maturity-onset diabetes of the young
• Maturity-onset diabetes of the young, type 3 - See Maturity-onset diabetes of the young
• Maturity-onset diabetes of the young, type 4 - See Maturity-onset diabetes of the young
• Maturity-onset diabetes of the young, type 5 - See Maturity-onset diabetes of the young
• Maturity-onset diabetes of the young, type 6 - See Maturity-onset diabetes of the young
• Maturity-onset diabetes of the young, type 7 - See Maturity-onset diabetes of the young
• Maturity-onset diabetes of the young, type 8 - See Maturity-onset diabetes of the young
• Maturity-onset diabetes of the young, type 9 - See Maturity-onset diabetes of the young
• McCune-Albright syndrome
• Meacham Winn Culler syndrome
• Meningioma
• Merkel cell carcinoma
• Microcephalic osteodysplastic primordial dwarfism type 2
• Mitochondrial myopathy with diabetes
• MOMO syndrome
• Multiple endocrine neoplasia type 1
• Multiple endocrine neoplasia type 2
• Multiple endocrine neoplasia type 2A
• Multiple endocrine neoplasia type 2B
• Myotonic dystrophy type 1
• Myotonic dystrophy type 2
• Neonatal adrenoleukodystrophy
• Neonatal progeroid syndrome
• Neonatal severe hyperparathyroidism
• Noonan syndrome
• Noonan syndrome 1 - See Noonan syndrome
• Noonan syndrome 2 - See Noonan syndrome
• Noonan syndrome 3 - See Noonan syndrome
• Noonan syndrome 4 - See Noonan syndrome
• Noonan syndrome 5 - See Noonan syndrome
• Noonan syndrome 6 - See Noonan syndrome
• Obesity due to congenital leptin deficiency
• Optic pathway glioma
• PAGOD syndrome
• Pallister-Hall syndrome
• Panhypopituitarism X-linked
• Papillary thyroid carcinoma
• Paraganglioma and gastric stromal sarcoma
• Parathyroid carcinoma
• Partial androgen insensitivity syndrome
• Pearson syndrome
• Pendred syndrome
• Peripheral resistance to thyroid hormones
• Permanent neonatal diabetes mellitus
• Perrault syndrome
• Persistent Mullerian duct syndrome
• Pheochromocytoma
• Pituitary hormone deficiency, combined 4
• Pituitary stalk interruption syndrome
• Primary hyperaldosteronism - Not a rare disease.
• Primary hyperparathyroidism
• Primary pigmented nodular adrenocortical disease
• Progressive encephalomyelitis with rigidity and myoclonus
• Prolactinoma
• Proopiomelanocortin deficiency
• Pseudohypoparathyroidism
• Pseudohypoparathyroidism type 1A
• Pseudohypoparathyroidism type 1B
• Pseudohypoparathyroidism type 1C
• Pseudohypoparathyroidism type 2
• Pseudopseudohypoparathyroidism
• Rabson-Mendenhall syndrome
• Sarcoidosis - Not a rare disease.
• Satoyoshi syndrome
• Schaaf-Yang syndrome
• Septo-optic dysplasia spectrum
• SERKAL syndrome
• Sheehan syndrome
• SHORT syndrome
• Sickle beta thalassemia
• Sickle cell anemia
• Sitosterolemia
• Small cell carcinoma of the bladder
• Smith-Lemli-Opitz syndrome
• Smith-Magenis syndrome
• Stiff person syndrome
• Sudden infant death with dysgenesis of the testes syndrome
• Swyer syndrome
• Syndromic microphthalmia, type 3
• Tangier disease
• Temple syndrome
• Testotoxicosis
• Tetrasomy X
• Thiamine responsive megaloblastic anemia syndrome
• Thyroid dysgenesis
• Thyrotropin deficiency, isolated
• Transient neonatal diabetes mellitus
• Triple A syndrome
• Triploidy
• Ulnar-mammary syndrome
• VIPoma
• Von Hippel-Lindau disease
• WAGR syndrome
• Waterhouse–Friderichsen syndrome
• Wilson-Turner syndrome
• Wolfram syndrome
• Wolman disease
• Woodhouse Sakati syndrome
• X-linked adrenal hypoplasia congenita
• X-linked hypophosphatemia
• X-linked lissencephaly with abnormal genitalia
• Yorifuji Okuno syndrome
• Zollinger-Ellison syndrome

NIH genetic and rare disease info

• NIH info on List of rare endocrine diseases

List of rare endocrine diseases is a rare disease.