Disorder of endocrine system

MedGen UID:: 4043
•Concept ID:: C0014130
•: Disease or Syndrome

Synonyms:	Endocrine disorders; Endocrine system disorder; Hormone abnormality
SNOMED CT:	Endocrinopathy (362969004); Endocrine disease (362969004); Endocrine system disease (362969004); Hormone disturbance (362969004); Endocrine disturbance (362969004); Disease of endocrine gland (362969004); Disorder of endocrine gland (362969004); Endocrine disorder (362969004); Disorder of endocrine system (362969004)

Related genes: Gene(s) associated with related conditions. For conditions in a hierarchy, the parent condition will list the genes associated with the children conditions.	STAR, HSD3B2, CYP21A2, CYP17A1, CYP11B1

Monarch Initiative:	MONDO:0005151

Definition

A non-neoplastic or neoplastic disorder that affects the endocrine system. Representative examples of non-neoplastic disorders include diabetes mellitus, hyperthyroidism, and adrenal gland insufficiency. Representative examples of neoplastic disorders include carcinoid tumor, neuroendocrine carcinoma, and pheochromocytoma. [from NCI]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

Pathological Conditions, Signs and Symptoms
- Pathological process
  - Disease
    - Disorder by Site
      - Disorder of endocrine system
        Autoimmune polyendocrinopathy
        Autoimmune polyendocrinopathy type 3
        Autoimmune polyendocrinopathy type 4
        Polyglandular autoimmune syndrome, type 1
        Polyglandular autoimmune syndrome, type 2
        Bone Diseases, Endocrine
        Acromegaly
        Congenital hypothyroidism
        Congenital hypothyroidism with ectopic thyroid
        Congenital iodine deficiency syndrome
        Deficiency of iodide peroxidase
        Dual Oxidase 2 Deficiency
        Genetic transient congenital hypothyroidism
        Hypothyroidism due to iodide transport defect
        Hypothyroidism due to TSH receptor mutations
        Hypothyroidism, congenital, nongoitrous, 2
        Iodotyrosine deiodination defect
        Isolated thyroid-stimulating hormone deficiency
        Pendred syndrome
        Thyroglobulin Deficiency
        Thyroid dyshormonogenesis
        Thyroid dyshormonogenesis 6
        Gigantism
        Osteitis fibrosa
        Pituitary dwarfism
        Congenital adrenal hyperplasia
        3 beta-Hydroxysteroid dehydrogenase deficiency
        Adrenal Gland Hyperplasia II
        Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
        Classic congenital adrenal hyperplasia
        Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
        Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
        Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
        Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
        Congenital lipoid adrenal hyperplasia due to STAR deficency
        Classic congenital lipoid adrenal hyperplasia due to STAR deficency
        Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
        Deficiency of steroid 11-beta-monooxygenase
        Deficiency of steroid 17-alpha-monooxygenase
        Macronodular adrenal hyperplasia
        Micronodular adrenal hyperplasia
        Isolated Non-Pigmented Micronodular Adrenal Hyperplasia
        Primary Pigmented Nodular Adrenal Dysplasia
        Multinodular Adrenal Hyperplasia
        Non-classic congenital adrenal hyperplasia
        Diabetes mellitus
        Childhood Diabetes Mellitus
        Neonatal diabetes mellitus
        Complication due to diabetes mellitus
        Coma due to diabetes mellitus
        Diabetic cardiomyopathy
        Diabetic ketoacidosis
        Diabetic kidney disease
        Diabetic neuropathy
        Diabetic Vascular Disorder
        End Organ Damage from Diabetes
        Fetal macrosomia
        Diabetes mellitus type 1
        Wolfram syndrome
        Diabetes mellitus without complication
        Gestational diabetes
        Gestational diabetes mellitus class A1
        Gestational diabetes mellitus class A2
        Latent autoimmune diabetes in adults
        Leprechaunism syndrome
        Lipoatrophic diabetes
        Maturity onset diabetes mellitus in young
        Maturity-onset diabetes of the young type 1
        Maturity-onset diabetes of the young type 2
        Maturity-onset diabetes of the young type 3
        Maturity-onset diabetes of the young type 4
        Maturity-onset diabetes of the young type 6
        Mitochondrial Diabetes
        Monogenic diabetes
        Acrorenal field defect, ectodermal dysplasia, and lipoatrophic diabetes
        Alstrom syndrome
        Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome
        DEND syndrome
        Diabetes mellitus, transient neonatal, 1
        Diabetes-deafness syndrome maternally transmitted
        H syndrome
        Hereditary pancreatitis
        Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome
        Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
        K ATP Channel-Associated Diabetes Mellitus
        K ATP Permanent Neonatal Diabetes
        Kir6.2-Associated Diabetes Mellitus
        Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
        Microcephaly, epilepsy, and diabetes syndrome
        Mitochondrial myopathy with diabetes
        Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
        Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
        Renal cysts and diabetes syndrome
        SUR1-Associated Diabetes Mellitus
        Transcription Factor-Associated Monogenic Diabetes
        Wolcott-Rallison dysplasia
        Wolfram-like syndrome
        Woodhouse-Sakati syndrome
        New Onset Diabetes After Transplant
        Pre-Gestational Diabetes
        Prediabetes syndrome
        Type 2 diabetes mellitus
        Insulin-dependent but ketosis-resistant diabetes
        Disorder of adrenal gland
        Adrenal cortex disorder
        Neoplasm of the adrenal cortex
        Adrenal gland myelolipoma
        Adrenal insufficiency
        Adrenoleukodystrophy
        Aldosterone deficiency
        Central adrenal insufficiency
        Primary adrenal insufficiency
        Primary adrenocortical insufficiency
        Waterhouse-Friderichsen Syndrome
        Hypercortisolism
        Cushing syndrome
        Increased circulating aldosterone concentration
        Neoplasm of the adrenal gland
        Adrenal cortex carcinoma
        Adrenal gland cancer
        Adrenal leiomyoma
        Benign neoplasm of adrenal gland
        Carney complex
        Familial hyperaldosteronism type II
        Multiple endocrine neoplasia type 2A
        Multiple endocrine neoplasia type 2B
        Multiple endocrine neoplasia, type 1
        Neoplasm of the adrenal medulla
        Pituitary dermoid and epidermoid cysts
        Von Hippel-Lindau syndrome
        Non-Neoplastic Adrenal Gland Disorder
        Abscess of adrenal gland
        Acute adrenal insufficiency
        Adrenal cortical hypofunction
        Congenital Adrenal Gland Disorder
        Tuberculosis of adrenal glands
        Disorder of parathyroid gland
        Hyperparathyroidism
        Hyperparathyroidism, transient neonatal
        Primary hyperparathyroidism
        Secondary hyperparathyroidism
        Tertiary hyperparathyroidism
        Hypoparathyroidism
        22q11 Deletion Syndrome
        Acquired Hypoparathyroidism
        Autoimmune hypoparathyroidism
        Autosomal dominant hypocalcemia 1
        Congenital hypoparathyroidism
        Hypoparathyroidism - X-linked
        Hypoparathyroidism, autosomal recessive
        Iatrogenic Hypoparathyroidism
        Primary Hypoparathyroidism
        Transient Neonatal Hypoparathyroidism
        Non-Neoplastic Parathyroid Gland Disorder
        Parathyroid Gland Abscess
        Tumor of parathyroid gland
        Benign neoplasm of parathyroid gland
        Malignant tumor of parathyroid gland
        Parathyroid carcinoma
        Parathyroid gland adenoma
        Endocrine pancreas disorder
        Non-Neoplastic Endocrine Pancreas Disorder
        Familial hyperinsulinism
        Hyperinsulinism in the Infant of a Diabetic Mother
        Insulin resistance - type A
        KATP-Associated Hyperinsulinism
        Monogenic Hyperinsulinism
        Nesidioblastosis
        Obesity-Associated Insulin Resistance
        Perinatal-Stress Induced Hyperinsulinism
        Transient Hyperinsulinism
        Pancreatic endocrine tumor
        Glucagonoma syndrome
        Metastatic Pancreatic Neuroendocrine Neoplasm
        Neuroendocrine pancreatic tumor
        Pancreatic endocrine carcinoma
        Pancreatic islet cell adenoma
        Unresectable Pancreatic Neuroendocrine Neoplasm
        Endocrine Syndrome
        46,XY Disorder of Androgen Action
        Abnormal development of female secondary sexual characteristics
        Acquired Feminization
        Androgen resistance syndrome
        Contrasexual Sexual Development
        Iatrogenic Contrasexual Pubertal Development
        Ectopic hormone secretion syndrome associated with neoplasia
        Carcinoid syndrome
        Ectopic ACTH secretion syndrome
        Ectopic aldosterone secretion
        Ectopic calcitonin production
        Ectopic Chorionic Gonadotropin Secretion Syndrome
        Ectopic growth hormone secretion
        Ectopic Parathormone Secretion Syndrome
        Ectopic prolactin secretion
        Ectopic renin secretion
        Inappropriate antidiuretic hormone secretion
        Hereditary pheochromocytoma-paraganglioma
        Paragangliomas 1
        Paragangliomas 2
        Paragangliomas 3
        Paragangliomas 4
        Paragangliomas 5
        Hypogonadism with anosmia
        Hypogonadotropic hypogonadism 1 with or without anosmia
        Hypogonadotropic hypogonadism 2 with or without anosmia
        Hypogonadotropic hypogonadism 3 with or without anosmia
        Hypogonadotropic hypogonadism 4 with or without anosmia
        Hypogonadotropic hypogonadism 5 with or without anosmia
        Hypogonadotropic hypogonadism 6 with or without anosmia
        Klinefelter syndrome
        McCune-Albright syndrome
        Pancreatic cholera
        Primary aldosteronism
        Dexamethasone-suppressible primary hyperaldosteronism
        Glucocortocoid-insensitive primary hyperaldosteronism
        Rare insulin-resistance syndrome
        Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome
        Acquired generalized lipodystrophy
        Autosomal semi-dominant severe lipodystrophic laminopathy
        Berardinelli-Seip congenital lipodystrophy
        Insulin-resistance syndrome type B
        Insulin-resistant diabetes mellitus AND acanthosis nigricans
        Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome
        Microcephalic primordial dwarfism-insulin resistance syndrome
        PLIN1-related familial partial lipodystrophy
        Rabson-Mendenhall syndrome
        Short fifth metacarpals-insulin resistance syndrome
        SHORT syndrome
        SERKAL syndrome
        Turner syndrome
        Monosomy X
        Mosaic Turner syndrome
        Turner syndrome due to structural X chromosome anomalies
        Zollinger-Ellison syndrome
        Endocrine tuberculosis
        Gonadal disorder
        Delayed puberty
        Delayed adrenarche
        Delayed menarche
        Delayed thelarche
        Disorder of ovary
        Anovulation
        Oophoritis
        Ovarian cyst
        Ovarian hyperstimulation syndrome
        Ovarian neoplasm
        Ovarian Non-Neoplastic Disorder
        Ovarian torsion
        Premature ovarian failure
        Premature ovarian insufficiency
        Disorder of testis
        Cryptorchidism
        Orchitis
        Testicular neoplasm
        Testicular Non-Neoplastic Disorder
        Germ cell tumor of testis
        Childhood testicular germ cell tumor
        Familial Testicular Germ Cell Tumor
        Malignant testicular germ cell tumor
        Regressed Testicular Germ Cell Tumor
        Spermatocytic seminoma
        Testicular non-seminomatous germ cell tumor
        Testicular pure germ cell tumor
        Testicular seminoma
        Hypogonadism
        Eunuchism
        Hypergonadotropic hypogonadism
        Hypogonadotropic hypogonadism
        Infantilism, Sexual
        Male hypogonadism
        Non-Neoplastic Gonadal Disorder
        Gonadal agenesis
        Gonadal dysgenesis
        Ovarian germ cell tumor
        Benign Ovarian Germ Cell Tumor
        Malignant germ cell tumor of ovary
        Ovarian teratoma
        Pediatric ovarian germ cell tumor
        Precocious puberty
        Central precocious puberty
        Central precocious puberty 1
        Familial Male Precocious Puberty
        Gonadotropin independent precocious puberty
        Gonadotropin-independent familial sexual precocity
        Idiopathic central precocious puberty
        Idiopathic Precocious Puberty
        Isosexual precocious puberty
        Precocious puberty in females
        Precocious puberty in males
        Premature pubarche
        Premature thelarche
        Reproductive Endocrine Neoplasm
        Sex Development Disorder
        46,XX disorder of sex development
        46,XX sex reversal 1
        46,XY disorder of sex development
        Adrenogenital syndrome
        Sex chromosome disorder of sex development
        Neoplasm of the endocrine system
        APUdoma
        Cutaneous neuroendocrine carcinoma
        Benign endocrine neoplasm
        Adrenocortical adenoma
        Non-Metastatic Paraganglioma
        Thyroid adenoma
        Functioning endocrine neoplasm
        Functional pancreatic neuroendocrine tumor
        Functioning Lung Carcinoid Tumor
        Functioning pituitary gland neoplasm
        Malignant neoplasm of endocrine gland
        Metastatic Paraganglioma
        Neuroendocrine carcinoma
        Pituitary carcinoma
        Recurrent Malignant Endocrine Neoplasm
        Refractory Malignant Endocrine Neoplasm
        Thyroid gland adenocarcinoma
        Thyroid Gland Mixed Medullary and Papillary Carcinoma
        Multiple endocrine neoplasia
        Multiple endocrine neoplasia type 4
        Multiple endocrine neoplasia, type 2
        Neoplasm of the pancreas
        Benign neoplasm of pancreas
        Carcinoid tumor of the pancreas
        Carcinoma, Pancreatic Ductal
        Islet Cell Adenoma
        Malignant tumor of pancreas
        Pancreatic adenocarcinoma
        Pancreatic exocrine neoplasm
        Pancreatic Intraductal Neoplasm
        Pancreatic intraductal papillary-mucinous neoplasm
        Pancreatic squamous cell carcinoma
        Pancreatic Teratoma
        Pancreatoblastoma
        VIPoma
        Neoplasm of the pituitary gland
        ACTH-producing pituitary gland adenoma
        Anterior Pituitary Gland Neoplasm
        Benign neoplasm of pituitary gland
        Neoplasm of the anterior pituitary
        Neoplasm of the posterior pituitary
        Pituitary cancer
        Prolactin-producing pituitary gland adenoma
        Sellar Paraganglioma
        Somatotroph Pituitary Neuroendocrine Tumor
        Neuroendocrine neoplasm
        Bladder Neuroendocrine Neoplasm
        Breast neuroendocrine neoplasm
        Carcinoid tumor
        Cervical Neuroendocrine Neoplasm
        Chromophobe adenoma
        Digestive system neuroendocrine neoplasm
        Kidney Neuroendocrine Neoplasm
        Laryngeal neuroendocrine neoplasm
        Lung neuroendocrine neoplasm
        Melanoma
        Metastatic Neuroendocrine Neoplasm
        Ovarian neuroendocrine neoplasm
        Paraganglioma
        Pheochromocytoma
        Pituitary gland acidophil adenoma
        Pituitary gland basophil adenoma
        Prostate neuroendocrine neoplasm
        Recurrent Neuroendocrine Neoplasm
        Refractory Neuroendocrine Neoplasm
        Schwannoma
        Thymic Neuroendocrine Neoplasm
        Unresectable Neuroendocrine Neoplasm
        Uterine corpus neuroendocrine neoplasm
        Non-functioning endocrine neoplasm
        Metastatic Non-Functioning Neuroendocrine Tumor
        Non-functional pancreatic neuroendocrine tumor
        Non-functioning adrenal cortex adenoma
        Non-Functioning Lung Carcinoid Tumor
        Silent pituitary adenoma
        Paraneoplastic Endocrine Syndromes
        Retroperitoneal paraganglioma
        Thyroid tumor
        Benign thyroid gland neoplasm
        Intrathyroidal Thymoma
        Malignant tumor of thyroid gland
        Neoplastic C-Cell Hyperplasia
        Papillary thyroid carcinoma
        Thyroid gland atypical follicular adenoma
        Thyroid gland carcinoma
        Thyroid Gland Follicular Tumor of Uncertain Malignant Potential
        Thyroid Gland Histiocytic and Dendritic Cell Neoplasm
        Thyroid Gland Noninvasive Follicular Neoplasm with Papillary-Like Nuclear Features
        Thyroid Gland Oncocytic Neoplasm
        Thyroid Gland Paraganglioma
        Thyroid Gland Solitary Fibrous Tumor
        Thyroid Gland Teratoma
        Thyroid hyalinizing trabecular adenoma
        Thyroid lymphoma
        Thyroid nodule
        Non-Neoplastic Endocrine Disorder
        11-Beta-Hydroxylase Deficiency
        17-Alpha-Hydroxylase/17,20 Lyase Deficiency
        21-Hydroxylase Deficiency
        Salt-Wasting 21-Hydroxylase Deficiency
        Simple Virilizing 21-Hydroxylase Deficiency
        Atrophy of thyroid
        Congenital Thyroid Gland Disorder
        Congenital thyroid hypoplasia
        Ectopic thyroid
        Thyroid agenesis
        Diabetes insipidus
        Adipsic Diabetes Insipidus
        Central diabetes insipidus
        Dipsogenic diabetes insipidus
        Nephrogenic diabetes insipidus
        Disorder of AMH
        Disorder of AMH Receptor
        Disorder of Androgen Synthesis
        Endocrine Disorder Arising from Mental Factor
        Glucose metabolism disease
        Glucose intolerance
        Glycosuria
        Hyperglycemia
        Hyperinsulinemia
        Hypoglycemia
        Goiter
        Congenital goiter
        Diffuse goiter
        Endemic goiter
        Euthyroid goiter
        Graves disease
        Hypothyroid Goiter
        Lingual goiter
        Nodular goiter
        Nontoxic goiter
        Plummer disease
        Substernal goiter
        Hyperandrogenism due to cortisone reductase deficiency
        Hyperthyroidism
        Acquired Hyperthyroidism
        Central Hyperthyroidism
        Congenital Hyperthyroidism
        Hyperthyroxinemia, familial dysalbuminemic
        Iodine-induced hyperthyroidism
        Primary Hyperthyroidism
        Thyroid crisis
        Thyrotoxicosis
        Thyrotoxicosis from ectopic thyroid tissue
        Thyrotoxicosis with diffuse goiter
        Thyrotoxicosis with toxic multinodular goiter
        Thyrotoxicosis with toxic single thyroid nodule
        Hypopituitarism
        Anterior hypopituitarism
        Panhypopituitarism
        Hypothyroidism
        Acquired hypothyroidism
        Central hypothyroidism
        Compensated hypothyroidism
        Iodine Deficiency Hypothyroidism
        Myxedema
        Primary hypothyroidism
        Transient hypothyroxinemia
        Wolff-Chaikoff Phenomenon
        Mullerian aplasia and hyperandrogenism
        Pituitary gland hypoplasia
        Pseudohypoparathyroidism
        Pseudohypoparathyroidism type 1B
        Pseudohypoparathyroidism type 1C
        Pseudohypoparathyroidism type I A
        Pseudohypoparathyroidism type II
        Pseudopseudohypoparathyroidism
        Pyknodysostosis
        Testosterone 17-beta-dehydrogenase deficiency
        Thyroiditis
        Autoimmune thyroid disease
        Hashimoto thyroiditis
        IgG4-related thyroid disease
        Postpartum thyroiditis
        Subacute thyroiditis
        Suppurative thyroiditis
        Pituitary gland disorder
        Empty sella syndrome
        Hyperpituitarism
        Adrenocorticotropic hormone excess
        Hyperprolactinemia
        Increased circulating prolactin concentration
        Pituitary dependent hypercortisolism
        Hypophysitis
        Primary hypophysitis
        Non-Neoplastic Pituitary Gland Disorder
        Ectopic posterior pituitary
        Lymphocytic Neurohypophysitis
        Necrosis of pituitary
        Pituitary apoplexy
        Pituitary gland infarction
        Severe short stature
        Achondroplasia
        Thanatophoric dysplasia
        Cockayne syndrome
        Cockayne syndrome type 1
        Cockayne syndrome type 2
        Cockayne syndrome type 3
        COFS syndrome
        Laron-type isolated somatotropin defect
        Mulibrey nanism syndrome
        Russell-Silver syndrome
        Silver-Russell syndrome 1
        Silver-russell syndrome 2
        Silver-Russell syndrome 3
        Silver-russell syndrome 4
        Silver-Russell syndrome 5
        Silver-Russell syndrome due to 11p15 microduplication
        Silver-Russell syndrome due to 7p11.2p13 microduplication
        Silver-Russell syndrome due to a point mutation
        Silver-Russell syndrome due to an imprinting defect of 11p15
        Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
        Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
        Weill-Marchesani syndrome
        Weill-Marchesani 4 syndrome, recessive
        Weill-Marchesani syndrome 1
        Weill-Marchesani syndrome 3
        Weill-Marchesani syndrome 2, dominant
        Thyroid abnormalities
        Euthyroid sick syndrome
        Hyperthyroxinemia
        Thyroid hormone resistance syndrome
        Non-Neoplastic Thyroid Gland Disorder
        Abscess of thyroid
        Diffuse C-Cell Hyperplasia
        Reactive C-Cell Hyperplasia
        Thyroid dysgenesis
        Thyroid Gland Rosai-Dorfman-Destombes Disease
        Transient congenital hypothyroidism
        Thyroid C cell hyperplasia

Professional guidelines

PubMed

KDIGO 2022 Clinical Practice Guideline for Diabetes Management in Chronic Kidney Disease.

Kidney Disease: Improving Global Outcomes (KDIGO) Diabetes Work Group
Kidney Int 2022 Nov;102(5S):S1-S127. doi: 10.1016/j.kint.2022.06.008. PMID: 36272764

The Management of Primary Aldosteronism: Case Detection, Diagnosis, and Treatment: An Endocrine Society Clinical Practice Guideline.

Funder JW, Carey RM, Mantero F, Murad MH, Reincke M, Shibata H, Stowasser M, Young WF Jr
J Clin Endocrinol Metab 2016 May;101(5):1889-916. Epub 2016 Mar 2 doi: 10.1210/jc.2015-4061. PMID: 26934393

Clinical practice guideline on diagnosis and treatment of hyponatraemia.

Spasovski G, Vanholder R, Allolio B, Annane D, Ball S, Bichet D, Decaux G, Fenske W, Hoorn EJ, Ichai C, Joannidis M, Soupart A, Zietse R, Haller M, van der Veer S, Van Biesen W, Nagler E; Hyponatraemia Guideline Development Group
Eur J Endocrinol 2014 Mar;170(3):G1-47. Epub 2014 Feb 25 doi: 10.1530/EJE-13-1020. PMID: 24569125

See all (59667)

MedGen

National Center for Biotechnology Information

Send to:

Disorder of endocrine system

Definition

Term Hierarchy

Professional guidelines

PubMed

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

Consumer resources

Reviews

Related information

Recent activity