domingo, 27 de enero de 2019

Endocrine Diseases | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

Endocrine Diseases | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

National Center for Advancing and Translational Sciences

Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

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 
Acquired generalized lipodystrophy 
ACTH-independent macronodular adrenal hyperplasia 
ACTH-secreting pituitary adenoma 
Addison's disease 
Adrenocortical carcinoma 
Ahumada Del Castillo syndrome 
Allan-Herndon-Dudley syndrome 
Alpha-thalassemia x-linked intellectual disability syndrome 
Alström syndrome 
Arachnoid cysts 
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 
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 
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 
Congenital generalized lipodystrophy type 4 
Corticosteroid-binding globulin deficiency 
Culler-Jones syndrome 
Cushing syndrome, familial 
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 
Glucocorticoid-remediable aldosteronism 
Goblet cell carcinoid 
Granulomatous hypophysitis 
Graves' disease 
Growth hormone deficiency 
Hepatic lipase deficiency 
Hereditary hyperekplexia 
Hereditary pancreatitis 
Hereditary paraganglioma-pheochromocytoma 
Histiocytosis-lymphadenopathy plus syndrome 
Hydrocephalus obesity hypogonadism 
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-intellectual disability-dysmorphism syndrome 
Hypophosphatemic rickets 
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 
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 
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 
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 
Proopiomelanocortin deficiency 
Pseudohypoparathyroidism type 1A 
Pseudohypoparathyroidism type 1B 
Pseudohypoparathyroidism type 1C 
Pseudohypoparathyroidism type 2 
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 
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 
Tetrasomy X 
Thiamine responsive megaloblastic anemia syndrome 
Thyroid dysgenesis 
Thyrotropin deficiency, isolated 
Transient neonatal diabetes mellitus 
Triple A syndrome 
Ulnar-mammary syndrome 
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 

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