SE-ATLAS

X-linked adrenal hypoplasia congenita Pressure-induced localized lipoatrophy Genetic lipodystrophy Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome Autosomal recessive infantile hypercalcemia Familial partial lipodystrophy 47,XYY syndrome Hypothyroidism due to TSH receptor mutations Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism Anaplastic thyroid carcinoma Differentiated thyroid carcinoma Rare hyperthyroidism Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature Addison disease Rare hypoparathyroidism McCune-Albright syndrome Adrenogenital syndrome Craniopharyngioma Aldosterone-producing adenoma Tetrasomy X Familial papillary thyroid carcinoma with renal papillary neoplasia Genetic transient congenital hypothyroidism Mosaic variegated aneuploidy syndrome 46,XX difference of sex development induced by maternal-derived androgen 48,XXYY syndrome Pentasomy X Xq12-q13.3 duplication syndrome Hyperinsulinism-hyperammonemia syndrome Obesity due to congenital leptin deficiency Septo-optic dysplasia spectrum Hypospadias-hypertelorism-coloboma and deafness syndrome Familial hyperinsulinism Distal Xq28 microduplication syndrome Hyperinsulinism due to UCP2 deficiency Polyostotic fibrous dysplasia Autosomal dominant hyperinsulinism due to Kir6.2 deficiency Complete androgen insensitivity syndrome Diazoxide-resistant diffuse hyperinsulinism Transient congenital hypothyroidism due to neonatal factor Diazoxide-resistant hyperinsulinism Rare insulin-resistance syndrome Paternal uniparental disomy of chromosome 1 Maternal uniparental disomy of chromosome 1 Other rare diabetes mellitus Hypertelorism-hypospadias-polysyndactyly syndrome Acute adrenal insufficiency Neonatal iodine exposure Exercise-induced hyperinsulinism Spina bifida-hypospadias syndrome Pituitary resistance to thyroid hormone Transient congenital hypothyroidism due to maternal factor Rare diabetes mellitus type 1 Rare diabetes mellitus type 2 Rare hypothyroidism Rare primary hyperaldosteronism Aromatase excess syndrome Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome Primary hypergonadotropic hypogonadism-partial alopecia syndrome Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome Obesity due to SIM1 deficiency Distal triplication 15q Neonatal diabetes mellitus Tetrasomy 18p Isolated growth hormone deficiency type IA Tetrasomy 9p Acquired partial lipodystrophy Léri-Weill dyschondrosteosis Localized lipodystrophy 46,XX gonadal dysgenesis Familial hypocalciuric hypercalcemia type 1 Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome Hypospadias-intellectual disability, Goldblatt type syndrome Denys-Drash syndrome Dysmorphism-short stature-deafness-difference of sex development syndrome PPARG-related familial partial lipodystrophy AKT2-related familial partial lipodystrophy Tetrasomy 5p Familial partial lipodystrophy, Köbberling type Acquired generalized lipodystrophy 46,XY complete gonadal dysgenesis Fibrous dysplasia of bone Isolated growth hormone deficiency type IB Isolated growth hormone deficiency type II Congenital hyperinsulinism due to HNF4A deficiency Microduplication Xp11.22p11.23 syndrome Hyperinsulinism due to INSR deficiency Trisomy X Schilbach-Rott syndrome X-linked acrogigantism Xp21 deletion syndrome Rare disease with adrenal Cushing syndrome as a major feature Familial hyperaldosteronism type III Pituitary gigantism Maternal uniparental disomy of chromosome 13 Isolated growth hormone deficiency type III Obesity due to congenital leptin resistance Obesity due to leptin receptor gene deficiency Obesity due to CEP19 deficiency Familial partial lipodystrophy, Dunnigan type Medullary thyroid carcinoma Laurence-Moon syndrome Xq27.3q28 duplication syndrome Hypergonadotropic hypogonadism-cataract syndrome 46,XX testicular difference of sex development Maternal uniparental disomy of chromosome X Familial hyperaldosteronism type II Familial hyperaldosteronism type I Familial hypocalciuric hypercalcemia 49,XXXYY syndrome Familial hyperthyroidism due to mutations in TSH receptor Normosmic congenital hypogonadotropic hypogonadism Lower limb malformation-hypospadias syndrome Short stature due to GHSR deficiency Non-acquired premature ovarian failure Primary congenital hypothyroidism without thyroid developmental anomaly Homozygous familial hypercholesterolemia Paternal uniparental disomy of chromosome X Congenital adrenal hyperplasia Familial hyperaldosteronism Keppen-Lubinsky syndrome Short stature due to partial GHR deficiency Congenital hypothyroidism Congenital glucokinase-related hyperinsulinism Rare female infertility due to a congenital hypogonadotropic hypogonadism Rare precocious puberty Kallmann syndrome Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies Idiopathic congenital hypothyroidism Congenital hypogonadotropic hypogonadism Xp22.13p22.2 duplication syndrome Cushing syndrome ACTH-independent Cushing syndrome Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy Congenital generalized lipodystrophy Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency Partial deletion of chromosome X Cushing syndrome due to ectopic ACTH secretion Isolated thyroid-stimulating hormone deficiency ACTH-dependent Cushing syndrome X and Y chromosomal anomaly Partial deletion of the short arm of the chromosome X Growth delay due to insulin-like growth factor type 1 deficiency Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation Primary adrenal insufficiency Adrenal Cushing syndrome Autoimmune polyendocrinopathy Partial duplication of the short arm of chromosome X Partial duplication of chromosome X Uniparental disomy of chromosome X Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia Noonan syndrome Multiple endocrine neoplasia type 1 Congenital isolated hyperinsulinism 46,XY difference of sex development due to testicular steroidogenesis defect 46,XY difference of sex development due to isolated 17,20-lyase deficiency Opitz GBBB syndrome Rare diabetes mellitus Endogenous Cushing syndrome Chronic primary adrenal insufficiency Partial deletion of the long arm of chromosome X Pseudohypoparathyroidism type 1A Partial duplication of the long arm of chromosome X Xp22.3 microdeletion syndrome Non-acquired isolated growth hormone deficiency Laron syndrome Multiple endocrine neoplasia type 2 Albright hereditary osteodystrophy Partial androgen insensitivity syndrome Familial hypocalciuric hypercalcemia type 2 Familial hypocalciuric hypercalcemia type 3 Multiple endocrine neoplasia Multiple endocrine neoplasia type 4 46,XY difference of sex development due to testicular 17,20-desmolase deficiency Hypothalamic adipsic hypernatraemia syndrome XY type gonadal dysgenesis-associated anomalies syndrome 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency Androgen insensitivity syndrome Microtriplication 11q24.1 Rare thyroid carcinoma Autosomal recessive hyperinsulinism due to Kir6.2 deficiency Autosomal semi-dominant severe lipodystrophic laminopathy X-linked acrogigantism due to a point mutation Hyperinsulinemic hypoglycaemia Proximal Xq28 duplication syndrome 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency Leydig cell hypoplasia Rare thyroid tumor Autosomal recessive hyperinsulinism due to SUR1 deficiency PLIN1-related familial partial lipodystrophy Tetrasomy 21 8p inverted duplication/deletion syndrome Maternal uniparental disomy Autosomal uniparental disomy Obesity due to prohormone convertase I deficiency Chromosome X structural anomaly X-linked acrogigantism due to Xq26 microduplication Fetal iodine syndrome Transient congenital hypothyroidism ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor Prolactinoma 46,XX difference of sex development-skeletal anomalies syndrome 46,XX difference of sex development Familial multinodular goiter Maternal uniparental disomy of chromosome 6 Temple syndrome due to maternal uniparental disomy of chromosome 14 Primary lipodystrophy Obesity due to pro-opiomelanocortin deficiency Obesity due to melanocortin 4 receptor deficiency Paternal uniparental disomy Central diabetes insipidus Tetrasomy 12p Rare peripheral precocious puberty Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Recombinant 8 syndrome Maternal uniparental disomy of chromosome 2 Maternal uniparental disomy of chromosome 4 Maternal uniparental disomy of chromosome 9 Familial peripheral male-limited precocious puberty Maternal uniparental disomy of chromosome 16 Maternal uniparental disomy of chromosome 21 Lipodystrophy due to peptidic growth factors deficiency Paternal uniparental disomy of chromosome 6 Paternal uniparental disomy of chromosome 7 Acromegaly X small rings Familial juvenile hypertrophy of the breast Genetic non-syndromic obesity Primary bone dysplasia Primary congenital hypothyroidism Central congenital hypothyroidism Maternal uniparental disomy of chromosome 20 Maternal uniparental disomy of chromosome 22 Paternal uniparental disomy of chromosome 5 Paternal uniparental disomy of chromosome 21 Paternal uniparental disomy of chromosome 20 Syndromic hypothyroidism Hyperinsulinism due to HNF1A deficiency Cushing syndrome due to bilateral macronodular adrenocortical disease Permanent congenital hypothyroidism Cushing disease Primary pigmented nodular adrenocortical disease Paternal uniparental disomy of chromosome 13 48,XYYY syndrome Hypothyroidism due to deficient transcription factors involved in pituitary development or function Somatotropic adenoma Familial nonmedullary thyroid carcinoma 49,XYYYY syndrome Thyroid lymphoma Genetic obesity Acquired lipodystrophy Congenital hypothyroidism due to maternal intake of antithyroid drugs Drug-induced localized lipodystrophy Centrifugal lipodystrophy Panniculitis-induced localized lipodystrophy Idiopathic localized lipodystrophy Isolated congenital hypogonadotropic hypogonadism Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome Generalized congenital lipodystrophy with myopathy Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 CIDEC-related familial partial lipodystrophy LIPE-related familial partial lipodystrophy Non-syndromic posterior hypospadias