List of rare endocrine diseases
From WikiMD's Food, Medicine & Wellness Encyclopedia
List of rare Endocrine Diseases[edit | edit source]
- 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[edit source]
List of rare endocrine diseases is a rare disease.
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Contributors: Prab R. Tumpati, MD