eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| addison disease | ||||
| Disease ID | 195 |
|---|---|
| Disease | addison disease |
| Definition | disease characterized by hypotension, weight loss, anorexia, weakness, and sometimes a bronze-like melanotic hyperpigmentation of the skin; due to tuberculosis or autoimmune induced disease (hypofunction) of the adrenal glands that results in deficiency of aldosterone and cortisol. |
| Synonym | addison dis addison disease [disease/finding] addison's disease addison's disease (disorder) addison's disease [ambiguous] addison's disease nos addison's disease, nos addison's disease, nos (disorder) addisons dis addisons disease adrenal insufficiency (addison disease) adrenal insufficiency (addison's disease) adrenal insufficiency, primary adrenocortical insufficiencies, primary adrenocortical insufficiency, primary adrenocortical insufficiency, primary failure chronic primary adrenal insufficiency disease addison's disease, addison hypoadrenalism, primary hypoadrenalisms, primary hypocortisolism insufficiencies, primary adrenocortical insufficiency, primary adrenocortical primary adrenal deficiency primary adrenal insufficiency primary adrenocortical failure primary adrenocortical insufficiencies primary adrenocortical insufficiency primary adrenocortical insufficiency (disorder) primary hypoadrenalism |
| Orphanet | |
| OMIM | |
| DOID | |
| ICD10 | |
| UMLS | C0001403 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:44) C0011847 | diabetes | 6 C0040128 | thyroid disease | 6 C0011854 | type 1 diabetes | 5 C0011849 | diabetes mellitus | 4 C0020538 | hypertension | 3 C0021053 | immune disease | 3 C0011854 | type 1 diabetes mellitus | 3 C0151740 | intracranial hypertension | 2 C0001403 | primary adrenocortical insufficiency | 2 C0878544 | cardiomyopathy | 2 C0033845 | idiopathic intracranial hypertension | 2 C0040147 | thyroiditis | 2 C0085215 | premature ovarian failure | 2 C0001403 | addison disease | 2 C0029132 | optic neuropathy | 1 C0018801 | heart failure | 1 C0037317 | sleep disturbances | 1 C0037317 | sleep disturbance | 1 C0442874 | neuropathy | 1 C0520482 | somatization disorder | 1 C0019655 | histoplasmosis | 1 C0015674 | chronic fatigue syndrome | 1 C0041296 | tuberculosis | 1 C0038436 | posttraumatic stress disorder | 1 C0221406 | cushing's disease | 1 C0028242 | nocardiosis | 1 C0751711 | anterior ischaemic optic neuropathy | 1 C0022661 | end-stage renal disease | 1 C0026896 | myasthenia gravis | 1 C0002871 | anemia | 1 C0002892 | pernicious anemia | 1 C0677607 | hashimoto's thyroiditis | 1 C0679466 | cognitive deficits | 1 C0022658 | renal disease | 1 C0026848 | myopathy | 1 C0028754 | obesity | 1 C1145670 | respiratory failure | 1 C0024299 | lymphoma | 1 C0020437 | hypercalcemia | 1 C0920350 | autoimmune thyroiditis | 1 C0031046 | pericarditis | 1 C0020598 | hypoglycemia | 1 C0154437 | atypical depression | 1 C0020635 | pituitary insufficiency | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:19) 5243 | ABCB1 | CIPHER 2289 | FKBP5 | CIPHER 3290 | HSD11B1 | CIPHER 2908 | NR3C1 | CIPHER 26191 | PTPN22 | CIPHER 729230 | CCR2 | CIPHER 1234 | CCR5 | CIPHER 4261 | CIITA | CIPHER;CTD_human 1493 | CTLA4 | CIPHER 1565 | CYP2D6 | CIPHER 2212 | FCGR2A | CIPHER 2214 | FCGR3A | CIPHER 2215 | FCGR3B | CIPHER 3117 | HLA-DQA1 | CIPHER 3119 | HLA-DQB1 | CIPHER 3123 | HLA-DRB1 | CIPHER 100507436 | MICA | CIPHER 7421 | VDR | CIPHER 23274 | CLEC16A | CTD_human |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:66) 5825 | ABCD3 | 2.318 | DISEASES 226 | ALDOA | 1.199 | DISEASES 164 | AP1G1 | 2.023 | DISEASES 551 | AVP | 2.777 | DISEASES 146227 | BEAN1 | 1.68 | DISEASES 720 | C4A | 1.073 | DISEASES 78996 | C7orf49 | 1.892 | DISEASES 846 | CASR | 1.508 | DISEASES 1028 | CDKN1C | 1.153 | DISEASES 23274 | CLEC16A | 3.386 | DISEASES 1394 | CRHR1 | 1.196 | DISEASES 1586 | CYP17A1 | 2.927 | DISEASES 1544 | CYP1A2 | 2.087 | DISEASES 1589 | CYP21A2 | 3.915 | DISEASES 1565 | CYP2D6 | 1.211 | DISEASES 1576 | CYP3A4 | 1.056 | DISEASES 1644 | DDC | 2.415 | DISEASES 51428 | DDX41 | 1.884 | DISEASES 115352 | FCRL3 | 2.619 | DISEASES 2571 | GAD1 | 1.123 | DISEASES 2520 | GAST | 1.771 | DISEASES 64344 | HIF3A | 1.214 | DISEASES 3105 | HLA-A | 1.605 | DISEASES 3106 | HLA-B | 2.3 | DISEASES 3117 | HLA-DQA1 | 3.383 | DISEASES 3119 | HLA-DQB1 | 1.4 | DISEASES 3120 | HLA-DQB2 | 1.514 | DISEASES 3123 | HLA-DRB1 | 3.164 | DISEASES 3283 | HSD3B1 | 2.25 | DISEASES 3284 | HSD3B2 | 1.111 | DISEASES 219844 | HYLS1 | 1.851 | DISEASES 3559 | IL2RA | 1.385 | DISEASES 3898 | LAD1 | 1.225 | DISEASES 348120 | LINC01193 | 1.018 | DISEASES 4158 | MC2R | 2.781 | DISEASES 100507436 | MICA | 3.991 | DISEASES 57708 | MIER1 | 2.365 | DISEASES 50488 | MINK1 | 1.295 | DISEASES 4772 | NFATC1 | 1.739 | DISEASES 22861 | NLRP1 | 3.343 | DISEASES 126206 | NLRP5 | 3.115 | DISEASES 388677 | NOTCH2NL | 2.024 | DISEASES 190 | NR0B1 | 3.183 | DISEASES 170685 | NUDT10 | 5.465 | DISEASES 114883 | OSBPL9 | 2.665 | DISEASES 5238 | PGM3 | 1.358 | DISEASES 26227 | PHGDH | 1.34 | DISEASES 26191 | PTPN22 | 4.068 | DISEASES 866 | SERPINA6 | 2.846 | DISEASES 6462 | SHBG | 1.396 | DISEASES 10478 | SLC25A17 | 2.085 | DISEASES 55532 | SLC30A10 | 2.056 | DISEASES 169026 | SLC30A8 | 2.199 | DISEASES 677829 | SNORA49 | 3.62 | DISEASES 6658 | SOX3 | 1.133 | DISEASES 6775 | STAT4 | 1.789 | DISEASES 246744 | STH | 1.498 | DISEASES 134957 | STXBP5 | 2.204 | DISEASES 9095 | TBX19 | 1.525 | DISEASES 7052 | TGM2 | 3.046 | DISEASES 8718 | TNFRSF25 | 4.502 | DISEASES 1861 | TOR1A | 3.888 | DISEASES 8805 | TRIM24 | 1.108 | DISEASES 80705 | TSGA10 | 2.293 | DISEASES 54490 | UGT2B28 | 2.391 | DISEASES 7421 | VDR | 1.117 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 195 |
|---|---|
| Disease | addison disease |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:4) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:12) C0011854 | type 1 diabetes | 4 C0033845 | idiopathic intracranial hypertension | 2 C0011849 | diabetes mellitus | 2 C1739395 | takotsubo cardiomyopathy | 2 C0020538 | hypertension | 2 C0233401 | psychiatric symptoms | 1 C0037317 | sleep disturbances | 1 C0020437 | hypercalcemia | 1 C0019655 | histoplasmosis | 1 C0018801 | heart failure | 1 C0026896 | myasthenia gravis | 1 C0085584 | encephalopathy | 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:2) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104894086 | 11509019 | 6770 | STAR | umls:C0001403 | BeFree | We report a novel homozygous splice site mutation (IVS1 + 2T --> G) in STAR in two sisters (46XY, 46XX) who presented with primary adrenal insufficiency at birth and a novel homozygous R182H missense mutation in the putative lipid transfer domain of StAR in a phenotypic female (46XY) with adrenal failure and a parotid tumor. | 0.000814326 | 2001 | STAR | 8 | 38146068 | C | T,A |
| rs2476601 | 15531553 | 26191 | PTPN22 | umls:C0001403 | GAD | [These data suggest that this LYP polymorphism is a susceptibility allele for Graves' disease with a major effect, and which is likely to have a role in many other autoimmune conditions.] | 0.012192478 | 2004 | PTPN22;AP4B1-AS1 | 1 | 113834946 | A | G |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:16) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001587 | Primary ovarian failure | MP:0011125 | decreased primary ovarian follicle number | fewer than normal numbers of the ovarian follicle prior to the appearance of an antrum, normally marked by developmental changes in the primary oocyte and follicular cells so that the latter form one or more layers of cuboidal or columnar cells; the folli |
| HP:0003154 | Increased circulating ACTH level | MP:0005661 | decreased circulating adrenaline level | less than the normal concentration in the blood of a catecholamine hormone that stimulates the adrenergic receptors and that causes systemic vasoconstriction and gastrointestinal relaxation, stimulates the heart, and dilates bronchi and cerebral vessels |
| HP:0002215 | Sparse axillary hair | MP:0004396 | decreased cochlear inner hair cell number | decreased number (or less than the expected single row) of the flask-shaped inner hair sensory cells of the organ of Corti |
| HP:0000848 | Increased circulating renin level | MP:0011563 | increased urine prostaglandin level | a greater amount of any prostaglandin in the urine compared to the normal state |
| HP:0001897 | Normocytic anemia | MP:0001585 | hemolytic anemia | deficiency of red cells resulting from an increased rate of erythrocyte destruction |
| HP:0000835 | Adrenal hypoplasia | MP:0013193 | sebaceous gland hypoplasia | underdevelopment and decreased size of the sebum secreting glands of the hair shaft, usually due to a decrease in the number of cells |
| HP:0100651 | Type I diabetes mellitus | MP:0004803 | increased susceptibility to autoimmune diabetes | greater likelihood that an organism will develop inflammatory pancreatic disease resulting from the body attacking and destroying the insulin-producing beta islet cells of the pancreas |
| HP:0006462 | Generalized bone demineralization | MP:0010878 | increased trabecular bone volume | increase in the amount of space occupied by trabecular bone tissue in the skeleton |
| 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:0001324 | Muscle weakness | MP:0000746 | weakness | state of being infirm or less strong than normal |
| HP:0000953 | Hyperpigmentation of the skin | MP:0012069 | abnormal horizontal basal cell of olfactory epithelium morphology | any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas |
| HP:0008207 | Primary adrenal insufficiency | MP:0011362 | ectopic adrenal gland | an adrenal gland located outside of its normal position |
| HP:0000958 | Dry 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:0002017 | Nausea and vomiting | MP:0010426 | abnormal heart and great artery attachment | any anomaly in the in the position or pattern of the connection site of the heart to any of the great arteries, including the pulmonary artery and aorta |
| HP:0008209 | Premature ovarian failure | MP:0011125 | decreased primary ovarian follicle number | fewer than normal numbers of the ovarian follicle prior to the appearance of an antrum, normally marked by developmental changes in the primary oocyte and follicular cells so that the latter form one or more layers of cuboidal or columnar cells; the folli |
| HP:0001824 | Weight loss | MP:0005114 | premature hair loss | release of fur at an earlier than expected time |
Mapped by homologous gene(Total Items:45) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0005976 | Hyperkalemic metabolic acidosis | MP:0012027 | abnormal embryonic cilium location or orientation | embryonic cilia are displaced from the normal position and/or do not orient in a typical pattern |
| HP:0001897 | Normocytic anemia | MP:0020186 | altered susceptibility to bacterial infection | a change in the likelihood that an organism will develop ill effects from a bacterial infection or from components of or toxins produced by bacteria |
| HP:0001045 | Vitiligo | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0003154 | Increased circulating ACTH level | MP:0013565 | abnormal adrenal gland capsule morphology | any structural anomaly of the thick capsule of dense irregular connective tissue that surrounds each adrenal gland and contains scattered elastic fibers; the capsule contains a rich plexus of blood vessels (mainly small arteries) and numerous nerve fibers |
| HP:0002149 | Hyperuricemia | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0001587 | Primary ovarian failure | MP:0013348 | adenohypophysis hyperplasia | overdevelopment or increased size of the anterior lobe of the pituitary gland, usually due to increased cell number |
| HP:0001250 | Seizures | 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:0002153 | Hyperkalemia | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0008220 | Hypocortisolemia | MP:0013785 | abnormal mammary gland bud morphology | any structural anomaly of the morphologically distinct bulb of epithelial cells formed once each mammary placode expands and invaginates into the underlying mesenchyme; in mouse embryos at E12.5, each epithelial bud with its contiguous mesenchyme is eleva |
| HP:0008207 | Primary adrenal insufficiency | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0002960 | Autoimmunity | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| 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:0003072 | Hypercalcemia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000953 | Hyperpigmentation of the skin | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0002014 | Diarrhea | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0002017 | Nausea and vomiting | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0030083 | Salt craving | MP:0011967 | increased or absent threshold for auditory brainstem response | increase in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system, or complete lack of a recordable response at any frequency o |
| HP:0001324 | Muscle weakness | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| 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:0000835 | Adrenal hypoplasia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002039 | Anorexia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002321 | Vertigo | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0008226 | Androgen insufficiency | MP:0013737 | small bulbourethral gland | reduced size of either of the small paired racemose (compound tubulo-alveolar) glands below the apex of the prostate in males, located posterolateral to the membranous portion of the urethra at the base of the penis, between the two layers of the fascia o |
| HP:0001824 | Weight loss | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0001943 | Hypoglycemia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002829 | Arthralgia | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0100651 | Type I diabetes mellitus | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0001278 | Orthostatic hypotension | MP:0014178 | increased brain apoptosis | increase in the number of cells of the brain undergoing programmed cell death |
| HP:0006462 | Generalized bone demineralization | MP:0012175 | flat face | the appearance of a flattened surface outline or contour of a normally rounded face of an organism |
| HP:0002027 | Abdominal pain | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0004860 | Thiamine-responsive megaloblastic anemia | MP:0011967 | increased or absent threshold for auditory brainstem response | increase in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system, or complete lack of a recordable response at any frequency o |
| HP:0000823 | Delayed puberty | MP:0020087 | increased susceptibility to non-insulin-dependent diabetes | increased likelihood to develop non-insulin-dependent diabetes |
| HP:0000127 | Renal salt wasting | MP:0014206 | decreased intestinal epithelial sodium ion transmembrane transport | |
| HP:0002615 | Hypotension | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0000958 | Dry skin | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000872 | Hashimoto thyroiditis | MP:0012431 | increased lymphoma incidence | greater than the expected number of neoplasms characterized by a proliferation of malignant lymphocytes in lymphoid tissue in a specific population in a given time period |
| HP:0008209 | Premature ovarian failure | 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:0000848 | Increased circulating renin level | MP:0011967 | increased or absent threshold for auditory brainstem response | increase in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system, or complete lack of a recordable response at any frequency o |
| HP:0000829 | Hypoparathyroidism | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0002019 | Constipation | 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:0002608 | Celiac disease | MP:0012113 | decreased inner cell mass proliferation | |
| HP:0002902 | Hyponatremia | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0002215 | Sparse axillary hair | MP:0014051 | abnormal maxillary-premaxillary suture morphology | any structural anomaly of the line of union of the two portions of the maxilla (pre- and postmaxilla) |
| HP:0004319 | Hypoaldosteronism | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0010512 | Adrenal calcification | MP:0011939 | increased food intake | increase in the total number of calories/food amount taken in over time when compared to the normal state |
| Disease ID | 195 |
|---|---|
| Disease | addison disease |
| Case | (Waiting for update.) |