eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| cushing disease | ||||
| Disease ID | 111 |
|---|---|
| Disease | cushing disease |
| Definition | Cushing's syndrome due to abnormally high secretion of adrenocorticotropic hormone (ACTH) from the pituitary gland.(NICHD) |
| Synonym | acth hypersecretion, pituitary cush disease cush's disease cushing basophilism cushing disease, pituitary cushing diseases cushing diseases, pituitary cushing syndrome, pituitary cushing syndrome, pituitary-dependant cushing's disease cushings disease cushings diseases cushings's disease disease cushing disease, cushing hypercortisolism disorder, pituitary-dependant hypercortisolism disorders, pituitary-dependant hypercortisolism, pituitary-dependant hypercortisolisms, pituitary-dependant hypersecretion, pituitary acth pituitary acth hypersecretion pituitary acth hypersecretion [disease/finding] pituitary cushing disease pituitary cushing diseases pituitary cushing syndrome pituitary cushings syndrome pituitary dependant cushing syndrome pituitary dependant hypercortisolism pituitary dependant hypercortisolism disorder pituitary dependent cushing disease pituitary dependent hypercortisolism pituitary dependent hypercortisolism (disorder) pituitary dependent hypercortisolism (disorder) [ambiguous] pituitary hyperadrenal corticism pituitary-dependant cushing syndrome pituitary-dependant hypercortisolism pituitary-dependant hypercortisolism disorder pituitary-dependant hypercortisolism disorders pituitary-dependant hypercortisolisms pituitary-dependent cushing's disease pituitary-dependent cushing's disease (disorder) pituitary-dependent cushing's syndrome |
| Orphanet | |
| OMIM | |
| DOID | |
| ICD10 | |
| UMLS | C0221406 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:43) C0032000 | pituitary adenoma | 10 C0001430 | adenoma | 9 C0001622 | hypercortisolism | 7 C0032000 | pituitary adenomas | 6 C0010276 | craniopharyngioma | 2 C0598639 | hypercortisolemia | 2 C0007785 | cerebral infarction | 1 C0036220 | kaposi sarcoma | 1 C0235660 | galactorrhea | 1 C0042373 | vascular disease | 1 C0001623 | adrenal insufficiency | 1 C0020676 | hypothyroidism | 1 C0026975 | myelitis | 1 C0003467 | anxiety | 1 C0011849 | diabetes mellitus | 1 C0033975 | psychosis | 1 C0346300 | pituitary carcinoma | 1 C0021845 | intestinal perforation | 1 C0002453 | amenorrhea | 1 C1306214 | acth-producing pituitary adenoma | 1 C0007222 | cardiovascular disease | 1 C1565489 | renal insufficiency | 1 C0854486 | functioning pituitary adenoma | 1 C0014130 | endocrine disease | 1 C0028754 | obesity | 1 C0221002 | primary hyperparathyroidism | 1 C0679466 | cognitive deficits | 1 C1378050 | oncocytoma | 1 C0013338 | growth hormone deficiency | 1 C0032001 | pituitary apoplexy | 1 C1261473 | sarcoma | 1 C0011570 | depression | 1 C0020502 | hyperparathyroidism | 1 C0007785 | cerebral infarct | 1 C0020456 | hyperglycaemia | 1 C0087086 | thrombi | 1 C0398623 | hypercoagulable state | 1 C0020456 | hyperglycemia | 1 C0010481 | cushing's syndrome | 1 C0041696 | major depressive disorder | 1 C0001206 | acromegaly | 1 C0011847 | diabetes | 1 C0020619 | hypogonadism | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:6) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:5) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:6) |
| Locus | Symbol | Locus(Total Locus:1) USP8 | 15q21.2 |
| Disease ID | 111 |
|---|---|
| Disease | cushing disease |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:8) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:21) C0001430 | adenoma | 8 C0001622 | hypercortisolism | 7 C0032000 | pituitary adenoma | 5 C0032000 | pituitary adenomas | 4 C0598639 | hypercortisolemia | 3 C0032001 | pituitary apoplexy | 1 C0235946 | brain atrophy | 1 C0001622 | overproduction of cortisol | 1 C0346306 | pituitary microadenoma | 1 C0398623 | hypercoagulable state | 1 C0020619 | hypogonadism | 1 C0032019 | pituitary tumor | 1 C1306214 | corticotroph adenomas | 1 C1306214 | acth-producing pituitary adenoma | 1 C0235660 | galactorrhea | 1 C0019080 | hemorrhage | 1 C0679466 | cognitive deficits | 1 C0013338 | growth hormone deficiency | 1 C0033975 | psychosis | 1 C0001623 | adrenal insufficiency | 1 C0011570 | depression | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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| (Waiting for update.) | |
All Snps(Total Genotypes:11) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104894190 | NA | 9049 | AIP | umls:C0221406 | CLINVAR | NA | 0.122367032 | NA | AIP | 11 | 67490911 | G | A |
| rs121913494 | NA | 2778 | GNAS | umls:C0221406 | CLINVAR | NA | 0.12 | NA | GNAS | 20 | 58909541 | A | G,T |
| rs137853226 | NA | 2771 | GNAI2 | umls:C0221406 | CLINVAR | NA | 0.12 | NA | GNAI2 | 3 | 50256262 | C | G,T |
| rs137854533 | NA | 2778 | GNAS | umls:C0221406 | CLINVAR | NA | 0.12 | NA | GNAS | 20 | 58909542 | G | C,T |
| rs6195 | 24126765 | 2908 | NR3C1 | umls:C0221406 | BeFree | Fifty-two patients with active CS (38 Cushing's disease and 14 with cortisol-secreting adrenal adenoma) were genotyped for GR polymorphisms (BclI, N363S, ER22/23EK, and A3669G). | 0.002995792 | 2013 | NA | NA | NA | NA | NA |
| rs672601306 | NA | 9101 | USP8 | umls:C0221406 | CLINVAR | NA | 0.361085767 | NA | USP8 | 15 | 50490446 | TCC | - |
| rs672601307 | NA | 9101 | USP8 | umls:C0221406 | CLINVAR | NA | 0.361085767 | NA | USP8 | 15 | 50490443 | T | C |
| rs672601308 | NA | 9101 | USP8 | umls:C0221406 | CLINVAR | NA | 0.361085767 | NA | USP8 | 15 | 50490444 | C | G |
| rs672601309 | NA | 9101 | USP8 | umls:C0221406 | CLINVAR | NA | 0.361085767 | NA | USP8 | 15 | 50490429 | T | G |
| rs672601310 | NA | 9101 | USP8 | umls:C0221406 | CLINVAR | NA | 0.361085767 | NA | USP8 | 15 | 50490441 | A | G,T |
| rs672601311 | NA | 9101 | USP8 | umls:C0221406 | CLINVAR | NA | 0.361085767 | NA | USP8 | 15 | 50490450 | C | G |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:13) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000963 | Thin skin | MP:0010678 | abnormal skin adnexa morphology | any structural anomaly of the tissue or structures associated with or embedded in the skin such as hair and hair follicles, sweat glands, sebaceous glands and claws or nails |
| HP:0002893 | Pituitary adenoma | MP:0013383 | increased sebaceous gland adenoma incidence | greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in any sebaceous gland, occurring in a specific population in a given time period |
| HP:0000311 | Round face | MP:0012546 | triangular face | a face whose lower half becomes relatively thin, approaching an appearance of a triangle with a tip facing downwards; usually associated with a prominent forehead and micrognathia |
| HP:0008221 | Adrenal hyperplasia | MP:0009092 | endometrium hyperplasia | overdevelopment or increased size, usually due an increased number of cells, of the glandular mucous membrane lining of the uterine cavity that is hormonally responsive during the estrous/menstrual cycle and during pregnancy |
| HP:0001581 | Recurrent skin infections | MP:0009932 | skin fibrosis | invasion of fibrous connective tissue into the skin, often resulting from inflammation or injury |
| HP:0001956 | Truncal obesity | MP:0005659 | decreased susceptibility to diet-induced obesity | less likely to become excessively overweight or to increase fat in the subcutaneous connective tissue as a result of consuming a diet geared to increase body fat |
| HP:0001508 | Failure to thrive | MP:0013294 | prenatal lethality prior to heart atrial septation | death prior to the completion of heart atrial septation (Mus: E14.5-15.5) |
| HP:0010885 | Aseptic necrosis | MP:0001654 | hepatic necrosis | morphological changes resulting from pathological death of liver tissue; usually due to irreversible damage |
| HP:0007440 | Generalized hyperpigmentation | MP:0001188 | hyperpigmentation | excess of pigment in any or all tissues or a part of a tissue |
| HP:0100585 | Telangiectasia of the skin | MP:0011022 | abnormal circadian regulation of systemic arterial blood pressure | any anomaly in the process in which an organism modulates its blood pressure at different values with a regularity of approximately 24 hours |
| HP:0000978 | Bruising susceptibility | MP:0005596 | increased susceptibility to type I hypersensitivity reaction | greater likelihood of developing a response manifested by localized or generalized reaction that occurs immediately (minutes) after exposure to an antigen to which the person/animal was previously sensitized; it is IgE-mediated, and mast cell activation a |
| HP:0002757 | Recurrent fractures | MP:0004675 | rib fractures | a crack or break in the bones forming the bony wall of the chest |
| HP:0000572 | Visual loss | MP:0011352 | proximal convoluted tubule brush border loss | attenuation or degeneration of the microvillus brush border normally present on the luminal surface of epithelial cells of the proximal convoluted tubule; may be associated with renal tubular injury and/or cystic changes |
Mapped by homologous gene(Total Items:39) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000132 | Menorrhagia | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0000739 | Anxiety | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000789 | Infertility | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002315 | Headache | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001581 | Recurrent skin infections | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0002893 | Pituitary adenoma | MP:0014167 | ectopic bone | the appearance of an extra bone structure at an atypical location |
| HP:0009125 | Lipodystrophy | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0000978 | Bruising susceptibility | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001638 | Cardiomyopathy | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0002360 | Sleep disturbance | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0001061 | Acne | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002900 | Hypokalemia | MP:0014206 | decreased intestinal epithelial sodium ion transmembrane transport | |
| HP:0002721 | Immunodeficiency | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0000518 | Cataract | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0001508 | Failure to thrive | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0000819 | Diabetes mellitus | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000939 | Osteoporosis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0012378 | Fatigue | MP:0013659 | abnormal erythroid lineage cell morphology | any structural anomaly of an immature or mature cell in the lineage leading to and including erythrocytes |
| HP:0002230 | Generalized hirsutism | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0012203 | Onychomycosis | MP:0013367 | parotid gland inflammation | local accumulation of fluid, plasma proteins, and leukocytes in either of the largest of the major salivary glands situated below and in front of each ear |
| HP:0002757 | Recurrent fractures | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0010885 | Aseptic necrosis | MP:0013501 | increased fibroblast apoptosis | increase in the timing or the number of fibroblast cells undergoing programmed cell death |
| HP:0000963 | Thin skin | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0003198 | Myopathy | MP:0020280 | increased creatine kinase level | increased level of the enzyme that catalyzes the reversible transfer of creatine to phosphocreatine |
| HP:0002027 | Abdominal pain | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0000787 | Nephrolithiasis | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0000709 | Psychosis | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001254 | Lethargy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001956 | Truncal obesity | MP:0014169 | decreased brown adipose tissue mass | decreased physical bulk or volume of brown adipose tissue |
| HP:0007440 | Generalized hyperpigmentation | MP:0014167 | ectopic bone | the appearance of an extra bone structure at an atypical location |
| HP:0000311 | Round face | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0004936 | Venous thrombosis | MP:0014166 | ectopic cranial bone | the appearance of an extra bone structure at an atypical location in or near the cranium |
| HP:0000572 | Visual loss | MP:0020194 | abnormal glycosphingolipid level | any anomaly in the concentrations of glycosphingolipids, a subtype of glycolipids containing the amino alcohol sphingosine, in the body |
| HP:0000716 | Depression | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0100585 | Telangiectasia of the skin | MP:0014127 | increased thymoma incidence | greater than the expected number of a malignant neoplasm originating from the epithelial cells of the thymus, occurring in a specific population in a given time period; thymoma is an uncommon tumor linked with myasthenia gravis and other autoimmune diseas |
| HP:0000505 | Visual impairment | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0007302 | Bipolar affective disorder | MP:0013293 | embryonic lethality prior to tooth bud stage | death prior to the appearance of tooth buds (Mus: E12-E12.5) |
| HP:0000822 | Hypertension | MP:0020216 | decreased circulating complement protein level | less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes |
| HP:0008221 | Adrenal hyperplasia | MP:0012498 | abnormal cardiogenic plate morphology | any structural anomaly of the splanchnic mesodermal thickening which forms cranial and lateral to the developing neural plate; angiogenic cell clusters (aka angioblastic cords) located in a horse-shoe shape configuration in the cardiogenic plate coalesce |
| Disease ID | 111 |
|---|---|
| Disease | cushing disease |
| Case | (Waiting for update.) |