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Diseases

Genetic and Rare Diseases Information Center (GARD)

Search for Rare or Genetic Diseases


Endocrine Diseases

* This symbol indicates that a condition is not rare but is one for which a question has been answered by the GARD Information Center.
Is Rare Condition? Disease Name
* 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
* 46,XX testicular disorder of sex development
* 47 XXX syndrome
* Abetalipoproteinemia
* Acanthocytosis
* Addison's disease
* Adrenocortical carcinoma
* Adrenomyeloneuropathy
* Ahumada Del Castillo syndrome
* Alpha-thalassemia x-linked intellectual disability syndrome
* Alström syndrome
* AREDYLD
* Ataxia telangiectasia
* Autoimmune polyglandular syndrome type 1
* Autoimmune polyglandular syndrome type 2
* Autoimmune polyglandular syndrome type 3
* Axenfeld-Rieger syndrome
* Ayazi syndrome
* Bamforth syndrome
* Barakat syndrome
* Bardet-Biedl syndrome
* Bardet-Biedl syndrome 11
* Bardet-Biedl syndrome 12
* Bardet-Biedl syndrome 2
* Barraquer-Simons syndrome
* Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter and primary gonadal insufficiency
* Borjeson-Forssman-Lehmann syndrome
* Boucher Neuhauser syndrome
* Campomelic dysplasia
* Carney triad
* Carpenter syndrome
* Cerebellar ataxia and hypogonadotropic hypogonadism
* Cerebrotendinous xanthomatosis
* Chang Davidson Carlson syndrome
* CHARGE syndrome
* Chordoma
* Chylomicron retention disease
* Coffin-Lowry syndrome
* Cohen syndrome
* Complete androgen insensitivity syndrome
* Congenital generalized lipodystrophy type 2
* Congenital generalized lipodystrophy type 4
* Conn's syndrome
* Cushing syndrome, familial
* Cushing's syndrome
* Dahlberg Borer Newcomer syndrome
* Deafness hypogonadism syndrome
* Dentatorubral-pallidoluysian atrophy
* Denys-Drash syndrome
* Dilated cardiomyopathy with hypergonadotropic hypogonadism
* Epiphyseal dysplasia multiple with early-onset diabetes mellitus
* Familial HDL deficiency
* Familial hyperlipo-proteinemia type 1
* Familial hypocalciuric hypercalcemia type 2
* Familial hypocalciuric hypercalcemia type 3
* Fish-eye disease
* Follicle-stimulating hormone deficiency, isolated
* Fragile X syndrome
* Frasier syndrome
* Galactokinase deficiency
* Gigantism
* Glucocorticoid-remediable aldosteronism
* Gonadal dysgenesis, XX type
* Granulomatous hypophysitis
* Graves' disease
* Growth hormone deficiency
* Hemoglobin sickle-beta thalassemia
* Hereditary hyperekplexia
* Hereditary paraganglioma-pheochromocytoma
* Hydrocephalus obesity hypogonadism
* Hyperadrenalism
* Hyperinsulinism due to glucokinase deficiency
* Hyperinsulinism-hyperammonemia syndrome
* Hyperlipoproteinemia type 1
* Hyperlipoproteinemia type 5
* Hyperparathyroidism, neonatal severe primary
* Hyperparathyroidism, primary
* Hyperparathyroidism-jaw tumor syndrome
* Hypocalcemia, autosomal dominant
* Hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome
* Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia
* Hypoparathyroidism
* Hypoparathyroidism-retardation-dysmorphism syndrome
* Hypophosphatemic rickets
* Hypopituitarism
* Insulin-like growth factor I deficiency
* Insulin-resistance type B
* Isolated ACTH deficiency
* Johanson Blizzard syndrome
* Kallmann syndrome
* Kallmann syndrome 1
* Kearns-Sayre syndrome
* Kenny-Caffey syndrome type 1
* Kenny-Caffey syndrome type 2
* Kowarski syndrome
* Laron syndrome
* LCHAD deficiency
* Leprechaunism
* Li-Fraumeni syndrome
* Lipodystrophy, familial partial, type 2
* 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 5
* Meacham Winn Culler syndrome
* Meningioma
* Mental deficiency-epilepsy-endocrine disorders
* Mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity
* Microphthalmia syndromic 3
* Mitochondrial myopathy with diabetes
* MOMO syndrome
* Multiple endocrine neoplasia type 1
* Multiple endocrine neoplasia type 2
* Multiple endocrine neoplasia type 2B
* Myotonic dystrophy type 1
* Myotonic dystrophy type 2
* Myxoma-spotty pigmentation-endocrine overactivity
* Neonatal adrenoleukodystrophy
* Neonatal progeroid syndrome
* Noonan syndrome
* Noonan syndrome 1
* PAGOD syndrome
* Pallister-Hall syndrome
* Pancreatic agenesis
* Pancreatic beta cell agenesis with neonatal diabetes mellitus
* Papillary thyroid carcinoma
* Paraganglioma and gastric stromal sarcoma
* Parathyroid carcinoma
* Partial androgen insensitivity syndrome
* Pearson syndrome
* Pendred syndrome
* Permanent neonatal diabetes mellitus
* Persistent Mullerian duct syndrome
* Pheochromocytoma
* Pituitary hormone deficiency, combined 2
*   Primary hyperaldosteronism
* Primary pigmented nodular adrenocortical disease
* Pseudohypoparathyroidism
* Pseudohypoparathyroidism type 1A
* Pseudohypoparathyroidism type 1B
* Pseudohypoparathyroidism type 1C
* Pseudohypoparathyroidism type 2
* Pseudopseudohypoparathyroidism
* Rabson-Mendenhall syndrome
*   Sarcoidosis
* Septo-optic dysplasia
* Sheehan syndrome
* SHORT syndrome
* Sickle cell anemia
* Sitosterolemia
* Smith-Lemli-Opitz syndrome
* Swyer syndrome
* Tangier disease
* Testotoxicosis
* Tetrasomy X
* Thiamine responsive megaloblastic anemia syndrome
* Thyroglossal tract cyst
* Thyroid agenesis
* Thyrotropin deficiency, isolated
* Transient neonatal diabetes mellitus
* Triple A syndrome
* Triploidy
* Ulnar-mammary syndrome
* VIPoma
* Von Hippel-Lindau disease
* Wolfram syndrome
* Woodhouse Sakati syndrome
* X-linked adrenal hypoplasia congenita
* Yorifuji Okuno syndrome
* Zollinger-Ellison syndrome