eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| gangliocytoma | ||||
| Disease ID | 1377 |
|---|---|
| Disease | gangliocytoma |
| Definition | A benign neoplasm that usually arises from the sympathetic trunk in the mediastinum. Histologic features include spindle cell proliferation (resembling a neurofibroma) and the presence of large ganglion cells. The tumor may present clinically with HORNER SYNDROME or diarrhea due to ectopic production of vasoactive intestinal peptide. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p966) |
| Synonym | gangliocytoma (morphologic abnormality) gangliocytomas ganglioneurofibroma ganglioneuroma ganglioneuroma (disorder) ganglioneuroma (morphologic abnormality) ganglioneuroma (schwannian stroma-dominant) ganglioneuroma [disease/finding] ganglioneuroma [dup] (morphologic abnormality) ganglioneuroma, benign ganglioneuromas neural crest tumor, benign |
| Orphanet | |
| DOID | |
| UMLS | C0017075 |
| MeSH | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:23) C0032000 | pituitary adenoma | 6 C0001430 | adenoma | 5 C0032000 | pituitary adenomas | 4 C0085113 | neurofibromatosis | 4 C0030421 | paraganglioma | 2 C0031511 | pheochromocytoma | 2 C0001206 | acromegaly | 2 C0027819 | neuroblastomas | 2 C0001418 | adenocarcinoma | 1 C0206718 | ganglioneuroblastomas | 1 C0205698 | undifferentiated carcinoma | 1 C0221406 | cushing's disease | 1 C0023798 | lipoma | 1 C0751690 | malignant peripheral nerve sheath tumor | 1 C0010481 | cushing's syndrome | 1 C0346302 | gh-secreting pituitary adenoma | 1 C0345893 | juvenile polyposis syndrome | 1 C0023798 | lipomas | 1 C0345893 | juvenile polyposis | 1 C0032460 | polycystic ovarian disease | 1 C0041408 | turner syndrome | 1 C0206654 | leiomyomatosis | 1 C0494165 | hepatic metastasis | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:51) 116 | ADCYAP1 | 1.04 | DISEASES 171023 | ASXL1 | 1.883 | DISEASES 54880 | BCOR | 2.306 | DISEASES 801 | CALM1 | 1.522 | DISEASES 841 | CASP8 | 1.643 | DISEASES 1621 | DBH | 1.149 | DISEASES 2173 | FABP7 | 1.675 | DISEASES 2526 | FUT4 | 1.084 | DISEASES 85569 | GALP | 3.084 | DISEASES 8811 | GALR2 | 1.869 | DISEASES 2520 | GAST | 2.013 | DISEASES 9402 | GRAP2 | 1.511 | DISEASES 26762 | HAVCR1 | 1.345 | DISEASES 9118 | INA | 1.944 | DISEASES 3831 | KLC1 | 1.895 | DISEASES 116372 | LYPD1 | 2.353 | DISEASES 4288 | MKI67 | 1.045 | DISEASES 23164 | MPRIP | 3.241 | DISEASES 4535 | MT-ND1 | 1.909 | DISEASES 4763 | NF1 | 3.792 | DISEASES 4771 | NF2 | 1.131 | DISEASES 4803 | NGF | 2.524 | DISEASES 344022 | NOTO | 1.944 | DISEASES 594857 | NPS | 1.459 | DISEASES 4886 | NPY1R | 1.664 | DISEASES 4914 | NTRK1 | 3.607 | DISEASES 10215 | OLIG2 | 1.608 | DISEASES 5081 | PAX7 | 1.107 | DISEASES 5725 | PTBP1 | 1.866 | DISEASES 5728 | PTEN | 6.108 | DISEASES 5728 | PTEN | 1.571 | DISEASES 5789 | PTPRD | 1.57 | DISEASES 146713 | RBFOX3 | 3.351 | DISEASES 146713 | RBFOX3 | 1.346 | DISEASES 8434 | RECK | 1.241 | DISEASES 5979 | RET | 2.512 | DISEASES 6295 | SAG | 1.128 | DISEASES 6390 | SDHB | 2.176 | DISEASES 6391 | SDHC | 2.35 | DISEASES 6392 | SDHD | 2.209 | DISEASES 6513 | SLC2A1 | 1.875 | DISEASES 6752 | SSTR2 | 1.349 | DISEASES 51684 | SUFU | 1.932 | DISEASES 6863 | TAC1 | 1.195 | DISEASES 7021 | TFAP2B | 1.81 | DISEASES 7033 | TFF3 | 1.386 | DISEASES 100507588 | TGFBR3L | 4.208 | DISEASES 7054 | TH | 2.49 | DISEASES 10381 | TUBB3 | 2.016 | DISEASES 10381 | TUBB3 | 1.472 | DISEASES 7432 | VIP | 4.49 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1377 |
|---|---|
| Disease | gangliocytoma |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:26) HP:0001317 | Abnormality of the cerebellum HP:0000845 | Growth hormone excess HP:0003005 | Ganglioneuroma HP:0011761 | Pituitary null cell adenoma HP:0001262 | Excessive daytime somnolence HP:0002591 | Polyphagia HP:0003401 | Paresthesia HP:0040086 | Abnormal prolactin level HP:0010302 | Spinal cord tumor HP:0003396 | Syringomyelia HP:0006767 | Pituitary prolactin cell adenoma HP:0007359 | Focal seizures HP:0000975 | Hyperhidrosis HP:0002650 | Scoliosis HP:0000726 | Dementia HP:0002363 | Abnormality of brainstem morphology HP:0011749 | Adrenocorticotropic hormone excess HP:0005616 | Accelerated skeletal maturation HP:0000802 | Impotence HP:0012377 | Hemianopsia HP:0000141 | Amenorrhea HP:0030018 | Decreased female libido HP:0012503 | Abnormality of the pituitary gland HP:0002460 | Distal muscle weakness HP:0100006 | Neoplasm of the central nervous system HP:0002315 | Headache |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:10) HP:0002893 | Pituitary adenoma | 6 HP:0001067 | Neurofibromas | 5 HP:0002664 | Neoplasia | 3 HP:0002666 | Pheochromocytoma | 3 HP:0002668 | Paragangliomas | 2 HP:0000845 | Acromegalic growth | 2 HP:0012032 | Lipoma | 1 HP:0007332 | Hemifacial seizures | 1 HP:0100697 | Neurofibrosarcoma | 1 HP:0001250 | Seizures | 1 |
| Disease ID | 1377 |
|---|---|
| Disease | gangliocytoma |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:2) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:2) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:9) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000845 | Growth hormone excess | MP:0003497 | insensitivity to parathyroid hormone | no changes in calcium homeostasis in response to endogenous or exogenous hormone |
| HP:0002363 | Abnormality of brainstem morphology | MP:0004568 | fusion of glossopharyngeal and vagus nerve | union of the ninth and tenth cranial nerves into a single structure |
| HP:0011749 | Adrenocorticotropic hormone excess | 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:0100006 | Neoplasm of the central nervous system | MP:0005387 | immune system phenotype | |
| HP:0007359 | Focal seizures | MP:0009358 | environmentally induced seizures | seizure activity response due to changes in ambient habitat including room temperature, lighting, sounds, touching, and/ or moving cage |
| 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:0005616 | Accelerated skeletal maturation | MP:0003378 | early sexual maturation | pubertal changes occur at an earlier than normal age |
| HP:0002460 | Distal muscle weakness | MP:0000748 | progressive muscle weakness | increasing loss of muscle strength over time |
| HP:0010302 | Spinal cord tumor | MP:0009277 | increased brain tumor incidence | greater than the expected number of abnormal rapidly proliferating cells in the brain, usually in the form of a distinct mass, occurring in a specific population in a given time period |
Mapped by homologous gene(Total Items:22) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002650 | Scoliosis | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000845 | Growth hormone excess | MP:0014169 | decreased brown adipose tissue mass | decreased physical bulk or volume of brown adipose tissue |
| HP:0002315 | Headache | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000802 | Impotence | MP:0012504 | increased forebrain apoptosis | increase in the number of cells of the forebrain undergoing programmed cell death |
| HP:0005616 | Accelerated skeletal maturation | MP:0020010 | decreased bone mineral density of femur | reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh |
| HP:0003401 | Paresthesia | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| 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:0002591 | Polyphagia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0010302 | Spinal cord tumor | MP:0013611 | abnormal bile duct epithelium morphology | any structural anomaly of the epithelium lining the intrahepatic and extrahepatic bile ducts |
| HP:0001317 | Abnormality of the cerebellum | MP:0011971 | increased circulating lactate dehydrogenase level | elevated blood level of the tetrameric enzyme that, along with the coenzyme NAD+, catalyzes the interconversion of lactate and pyruvate; measurements of circulating levels are used clinically as a diagnostic indicator of tissue breakdown, some forms of ca |
| HP:0007359 | Focal seizures | MP:0020160 | abnormal behavioral response to nicotine | any anomaly in the behavioral response induced by nicotine, such as induced hyperactivity or stereotypic behavior |
| HP:0006767 | Pituitary prolactin cell adenoma | MP:0014167 | ectopic bone | the appearance of an extra bone structure at an atypical location |
| HP:0000975 | Hyperhidrosis | 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:0011749 | Adrenocorticotropic hormone excess | MP:0011088 | neonatal lethality, incomplete penetrance | the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms within the neonatal period after birth (Mus: P0) |
| HP:0001262 | Somnolence | MP:0013504 | increased embryonic tissue cell apoptosis | increase in the timing or the number of cells in embryonic tissue undergoing programmed cell death |
| HP:0000726 | Dementia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0003005 | Ganglioneuroma | MP:0013795 | abnormal colon goblet cell morphology | any structural anomaly of the glandular simple columnar epithelial cell found in the mucosal lining of the colon, whose primary function is to secrete gel-forming mucins, the major components of mucus |
| HP:0002363 | Abnormality of brainstem morphology | MP:0012817 | rhombomere fusion | the union of one or more rhombomeres into a single structure |
| 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:0100006 | Neoplasm of the central nervous system | MP:0014126 | increased mammary gland apoptosis | increase in the number of any cells of a mammary gland undergoing programmed cell death |
| HP:0002460 | Distal muscle weakness | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0003396 | Syringomyelia | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| Disease ID | 1377 |
|---|---|
| Disease | gangliocytoma |
| Case | (Waiting for update.) |