eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| prolactinoma | ||||
| Disease ID | 57 |
|---|---|
| Disease | prolactinoma |
| Definition | A pituitary adenoma which secretes PROLACTIN, leading to HYPERPROLACTINEMIA. Clinical manifestations include AMENORRHEA; GALACTORRHEA; IMPOTENCE; HEADACHE; visual disturbances; and CEREBROSPINAL FLUID RHINORRHEA. |
| Synonym | [m] prolactinoma [m]prolactinoma adenoma prolactin secreting adenoma, lactotroph adenoma, prolactin secreting adenoma, prolactin-secreting, pituitary adenomas, lactotroph lactotroph adenoma lactotroph adenomas pituitary adenoma, prl-secreting pituitary adenoma, prolactin secreting pituitary adenoma, prolactin-producing pituitary adenoma, prolactin-secreting pituitary adenomas, prl-secreting pituitary adenomas, prolactin-producing pituitary adenomas, prolactin-secreting pituitary gland prolactinoma pituitary neoplasm (prolactinoma) pituitary prolactin cell adenoma pituitary prolactinoma pituitary prolactinomas prl producing pituitary gland adenoma prl secreting pituitary adenoma prl-secreting pituitary adenoma prl-secreting pituitary adenomas prolactin producing adenoma of pituitary prolactin producing adenoma of pituitary gland prolactin producing adenoma of the pituitary prolactin producing adenoma of the pituitary gland prolactin producing pituitary adenoma prolactin producing pituitary gland adenoma prolactin secreting adenoma prolactin secreting adenoma of pituitary prolactin secreting adenoma of pituitary gland prolactin secreting adenoma of the pituitary prolactin secreting adenoma of the pituitary gland prolactin secreting pituitary adenoma prolactin secreting pituitary gland adenoma prolactin-producing pituitary adenoma prolactin-producing pituitary adenomas prolactin-producing pituitary gland adenoma prolactin-secreting pituitary adenoma prolactin-secreting pituitary adenomas prolactinoma (disorder) prolactinoma (morphologic abnormality) prolactinoma [disease/finding] prolactinoma of pituitary prolactinoma of pituitary gland prolactinoma of the pituitary prolactinoma of the pituitary gland prolactinoma, familial prolactinomas |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0033375 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:20) C0001430 | adenoma | 3 C0020514 | hyperprolactinemia | 3 C0032000 | pituitary adenoma | 2 C0033860 | psoriasis | 1 C0021359 | infertile | 1 C0242350 | erectile dysfunction | 1 C0021122 | impulse control disorders | 1 C0001206 | acromegaly | 1 C0002871 | anaemia | 1 C0748616 | sellar tumor | 1 C0032001 | pituitary apoplexy | 1 C0006142 | breast cancer | 1 C0025267 | multiple endocrine neoplasia type 1 | 1 C0037199 | sinusitis | 1 C0020514 | hyperprolactinaemia | 1 C0032000 | pituitary adenomas | 1 C0456909 | vision loss | 1 C0033975 | psychosis | 1 C0014544 | epilepsy | 1 C0021359 | infertility | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:3) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:46) 551 | AVP | 1.417 | DISEASES 1114 | CHGB | 1.023 | DISEASES 1325 | CORT | 2.084 | DISEASES 1443 | CSH2 | 1.239 | DISEASES 1644 | DDC | 1.45 | DISEASES 1813 | DRD2 | 4.387 | DISEASES 1961 | EGR4 | 1.842 | DISEASES 51013 | EXOSC1 | 1.534 | DISEASES 2245 | FGD1 | 1.378 | DISEASES 2258 | FGF13 | 1.606 | DISEASES 2520 | GAST | 2.043 | DISEASES 2778 | GNAS | 2.255 | DISEASES 81033 | KCNH6 | 1.921 | DISEASES 9851 | KIAA0753 | 1.295 | DISEASES 8825 | LIN7A | 1.657 | DISEASES 4221 | MEN1 | 4.973 | DISEASES 4288 | MKI67 | 1.472 | DISEASES 117194 | MRGPRX2 | 2.25 | DISEASES 4553 | MT-TA | 1.996 | DISEASES 4609 | MYC | 1.324 | DISEASES 4803 | NGF | 1.982 | DISEASES 4831 | NME2 | 1.042 | DISEASES 4914 | NTRK1 | 1.34 | DISEASES 5478 | PPIA | 1.356 | DISEASES 5573 | PRKAR1A | 1.995 | DISEASES 5618 | PRLR | 4.44 | DISEASES 9232 | PTTG1 | 2.633 | DISEASES 57109 | REXO4 | 2.523 | DISEASES 7732 | RNF112 | 1.118 | DISEASES 25950 | RWDD3 | 2.44 | DISEASES 6258 | RXRG | 1.599 | DISEASES 795 | S100G | 1.374 | DISEASES 83482 | SCRT1 | 1.142 | DISEASES 6462 | SHBG | 1.886 | DISEASES 4089 | SMAD4 | 1.039 | DISEASES 677833 | SNORA54 | 2.958 | DISEASES 6752 | SSTR2 | 3.092 | DISEASES 6753 | SSTR3 | 2.23 | DISEASES 246744 | STH | 1.445 | DISEASES 7048 | TGFBR2 | 1.485 | DISEASES 284486 | THEM5 | 1.292 | DISEASES 25987 | TSKU | 1.836 | DISEASES 7422 | VEGFA | 1.041 | DISEASES 7432 | VIP | 2.339 | DISEASES 11169 | WDHD1 | 1.449 | DISEASES 9213 | XPR1 | 1.379 | DISEASES |
| Locus | Symbol | Locus(Total Locus:2) |
| Disease ID | 57 |
|---|---|
| Disease | prolactinoma |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:52) HP:0000044 | Hypogonadotrophic hypogonadism HP:0002920 | Decreased circulating ACTH level HP:0002013 | Vomiting HP:0100639 | Erectile abnormalities HP:0011748 | Adrenocorticotropic hormone deficiency HP:0012378 | Fatigue HP:0007942 | Internal ophthalmoplegia HP:0000845 | Growth hormone excess HP:0001117 | Sudden loss of visual acuity HP:0000508 | Ptosis HP:0000135 | Hypogonadism HP:0000618 | Blindness HP:0030521 | Bitemporal hemianopia HP:0002615 | Hypotension HP:0000134 | Female hypogonadism HP:0002017 | Nausea and vomiting HP:0006897 | Cranial nerve VI palsy HP:0003335 | Low gonadotropins (secondary hypogonadism) HP:0000140 | Abnormality of the menstrual cycle HP:0000858 | Menstrual irregularities HP:0007011 | Fourth cranial nerve palsy HP:0012246 | Oculomotor nerve palsy HP:0001250 | Seizures HP:0000771 | Gynecomastia HP:0011357 | Abnormality of hair density HP:0000026 | Male hypogonadism HP:0100829 | Galactorrhea HP:0011735 | Adrenocorticotropin deficient adrenal insufficiency HP:0003388 | Easy fatigability HP:0000868 | Decreased fertility in females HP:0000938 | Osteopenia HP:0000939 | Osteoporosis HP:0030016 | Dyspareunia HP:0030517 | Heteronymous hemianopia HP:0000823 | Delayed puberty HP:0000651 | Diplopia HP:0000529 | Progressive visual loss HP:0000830 | Anterior hypopituitarism HP:0000802 | Impotence HP:0012377 | Hemianopsia HP:0000141 | Amenorrhea HP:0002321 | Vertigo HP:0030018 | Decreased female libido HP:0012503 | Abnormality of the pituitary gland HP:0006767 | Prolactin-secreting pituitary adenoma HP:0006824 | Cranial nerve paralysis HP:0012041 | Decreased fertility in males HP:0000980 | Pallor HP:0002315 | Headache HP:0008240 | Secondary growth hormone deficiency HP:0008245 | Pituitary hypothyroidism HP:0011734 | Central adrenal insufficiency |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:30) HP:0000870 | Hyperprolactinemia | 5 HP:0002664 | Neoplasia | 5 HP:0002893 | Pituitary adenoma | 3 HP:0000845 | Acromegalic growth | 2 HP:0001907 | Thromboembolic disease | 1 HP:0010513 | Pituitary calcification | 1 HP:0009733 | Glioma | 1 HP:0000421 | Bloody nose | 1 HP:0012163 | Carotid artery aneurysm | 1 HP:0002018 | Nausea | 1 HP:0002617 | Aneurysmal dilatation | 1 HP:0003765 | Psoriasis | 1 HP:0002870 | Obstructive sleep apnea | 1 HP:0002104 | Absence of spontaneous respiration | 1 HP:0003002 | Breast carcinoma | 1 HP:0012341 | Microprolactinoma | 1 HP:0001824 | Weight loss | 1 HP:0002888 | Ependymoma | 1 HP:0002315 | Headaches | 1 HP:0001952 | Abnormal glucose tolerance | 1 HP:0030731 | Carcinoma | 1 HP:0000709 | Psychosis | 1 HP:0012378 | Fatigue | 1 HP:0000855 | Insulin resistance | 1 HP:0000789 | Infertility | 1 HP:0000246 | Sinus inflammation | 1 HP:0001903 | Anemia | 1 HP:0000802 | Erectile dysfunction | 1 HP:0000572 | Visual loss | 1 HP:0010535 | Sleep apnea | 1 |
| Disease ID | 57 |
|---|---|
| Disease | prolactinoma |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:21) C2096315 | headache C1963138 | hypertension C1961100 | erectile dysfunction C1546533 | abscess C1262087 | sunct syndrome C0678222 | breast carcinoma C0678222 | breast cancer C0346308 | pituitary macroadenoma C0271347 | cavernous sinus syndrome C0271001 | siderosis C0269995 | galactorrhoea C0262587 | parathyroid adenoma C0032019 | pituitary tumors C0032001 | pituitary apoplexy C0024141 | systemic lupus erythematosus C0023652 | lichen sclerosus C0022572 | keratoacanthomas C0021359 | infertility C0020514 | hyperprolactinemia C0020514 | hyperprolactinaemia C0018824 | cardiac valve disease |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:8) C0020514 | hyperprolactinemia | 4 C0018681 | headache | 1 C0242350 | erectile dysfunction | 1 C0006142 | breast cancer | 1 C0032001 | pituitary apoplexy | 1 C0346308 | pituitary macroadenoma | 1 C0020514 | hyperprolactinaemia | 1 C0021359 | infertility | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:1) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104894194 | NA | 9049 | AIP | umls:C0033375 | CLINVAR | NA | 0.241900093 | NA | AIP | 11 | 67483198 | C | T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:10) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002920 | Decreased circulating ACTH level | MP:0011549 | increased urine corticosterone level | an increased amount of corticosterone in the urine compared to the normal state |
| HP:0000529 | Progressive visual loss | MP:0010749 | absent visual evoked potential | absence of a characteristic electroencephalographic pattern recorded from the occipital area generated in response to retinal stimulation such as flashing lights or inverting a contrasting image; absence may indicate blindness |
| HP:0000845 | Growth hormone excess | MP:0003497 | insensitivity to parathyroid hormone | no changes in calcium homeostasis in response to endogenous or exogenous hormone |
| HP:0000830 | Anterior hypopituitarism | MP:0003348 | hypopituitarism | reduction or cessation of secretion of one or more hormones from the anterior pituitary gland; this may result from ablation, tumors, infarction, or other trauma |
| HP:0000140 | Abnormality of the menstrual cycle | MP:0004499 | increased incidence of tumors by chemical induction | higher than normal frequency of tumor incidence induced by one or more chemical carcinogens or mutagens |
| HP:0006767 | Pituitary prolactin cell 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:0006824 | Cranial nerve paralysis | MP:0006303 | abnormal retinal nerve fiber layer morphology | any structural anomaly of the layer of the retina formed by expansion of the fibers of the optic nerve |
| HP:0008240 | Secondary growth hormone deficiency | MP:0005418 | abnormal circulating hormone level | any anomaly in the blood concentration of any of the chemical substances that have specific regulatory effects on the activity of a certain organ or organs; originally applied to substances secreted by various endocrine glands and transported in the blood |
| 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:0000868 | Decreased fertility in females | MP:0001921 | reduced fertility | diminished ability to produce live offspring |
Mapped by homologous gene(Total Items:42) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000845 | Growth hormone excess | MP:0014169 | decreased brown adipose tissue mass | decreased physical bulk or volume of brown adipose tissue |
| HP:0000140 | Abnormality of the menstrual cycle | MP:0014169 | decreased brown adipose tissue mass | decreased physical bulk or volume of brown adipose tissue |
| HP:0000508 | Ptosis | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0002315 | Headache | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000044 | Hypogonadotrophic hypogonadism | 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:0000802 | Impotence | MP:0012504 | increased forebrain apoptosis | increase in the number of cells of the forebrain undergoing programmed cell death |
| 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:0000529 | Progressive visual loss | 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:0100639 | Erectile abnormalities | MP:0014198 | absent pituitary infundibular stalk | absence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland |
| HP:0001117 | Sudden loss of visual acuity | MP:0013405 | increased circulating lactate level | greater amount of lactate in the blood which is produced from pyruvate by lactate dehydrogenase |
| HP:0012377 | Hemianopia | MP:0013405 | increased circulating lactate level | greater amount of lactate in the blood which is produced from pyruvate by lactate dehydrogenase |
| HP:0000135 | Hypogonadism | MP:0014198 | absent pituitary infundibular stalk | absence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland |
| HP:0012246 | Oculomotor nerve palsy | 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:0000618 | Blindness | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002920 | Decreased circulating ACTH level | MP:0014167 | ectopic bone | the appearance of an extra bone structure at an atypical location |
| HP:0000868 | Decreased fertility in females | MP:0014169 | decreased brown adipose tissue mass | decreased physical bulk or volume of brown adipose tissue |
| HP:0008240 | Secondary growth hormone deficiency | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000141 | Amenorrhea | MP:0013395 | eyelid hypoplasia | underdevelopment or reduced size of the skin folds covering the front of the eyeball, usually due to a decreased cell number |
| HP:0000939 | Osteoporosis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000938 | Osteopenia | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0100829 | Galactorrhea | MP:0014167 | ectopic bone | the appearance of an extra bone structure at an atypical location |
| HP:0002017 | Nausea and vomiting | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0011748 | Adrenocorticotropic hormone deficiency | MP:0011957 | decreased compensatory feeding amount | decreased amount of food consumed after a period of fasting |
| 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:0000651 | Diplopia | MP:0020187 | altered susceptibility to prion infection | altered likelihood that an organism will develop ill effects from the small proteinaceous infectious particles which are resistant to inactivation by procedures that modify nucleic acids and which contain an abnormal isoform of a cellular protein that is |
| HP:0002321 | Vertigo | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0006767 | Pituitary prolactin cell adenoma | MP:0014167 | ectopic bone | the appearance of an extra bone structure at an atypical location |
| HP:0003335 | Low gonadotropins (secondary hypogonadism) | MP:0013603 | abnormal fetal Leydig cell differentiation | atypical formation of or inability to produce the first or fetal population of Leydig cells (FLCs); in mice, FLCs arise in the testicular interstitium between E12.5 and E13.0, approximately 1 day after the appearance of Sertoli cells; Sertoli cells trigge |
| HP:0000823 | Delayed puberty | MP:0020087 | increased susceptibility to non-insulin-dependent diabetes | increased likelihood to develop non-insulin-dependent diabetes |
| HP:0003388 | Easy fatigability | 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:0000980 | Pallor | 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: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:0002013 | Vomiting | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0000858 | Menstrual irregularities | MP:0014167 | ectopic bone | the appearance of an extra bone structure at an atypical location |
| HP:0008245 | Pituitary hypothyroidism | MP:0020087 | increased susceptibility to non-insulin-dependent diabetes | increased likelihood to develop non-insulin-dependent diabetes |
| HP:0000026 | Male hypogonadism | 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:0000134 | Female hypogonadism | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0011734 | Central adrenal insufficiency | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0000830 | Anterior hypopituitarism | 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:0000771 | Gynecomastia | MP:0014198 | absent pituitary infundibular stalk | absence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland |
| HP:0006824 | Cranial nerve paralysis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0006897 | Cranial nerve VI palsy | 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 |
| Disease ID | 57 |
|---|---|
| Disease | prolactinoma |
| Case | (Waiting for update.) |