eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| craniopharyngioma | ||||
| Disease ID | 360 |
|---|---|
| Disease | craniopharyngioma |
| Definition | A benign pituitary-region neoplasm that originates from Rathke's pouch. The two major histologic and clinical subtypes are adamantinous (or classical) craniopharyngioma and papillary craniopharyngioma. The adamantinous form presents in children and adolescents as an expanding cystic lesion in the pituitary region. The cystic cavity is filled with a black viscous substance and histologically the tumor is composed of adamantinomatous epithelium and areas of calcification and necrosis. Papillary craniopharyngiomas occur in adults, and histologically feature a squamous epithelium with papillations. (From Joynt, Clinical Neurology, 1998, Ch14, p50) |
| Synonym | [m]craniopharyngioma [m]rathke's pouch tumor [m]rathke's pouch tumour adamantinoma, pituitary brain tumor, craniopharyngioma craniopharyngioma (disorder) craniopharyngioma (morphologic abnormality) craniopharyngioma (who grade i) craniopharyngioma [disease/finding] craniopharyngioma, benign craniopharyngiomas cystoma intracranial neoplasm, craniopharyngioma neopl rathke cleft neopl rathkes cleft neoplasm of rathke's pouch neoplasm, rathke cleft neoplasm, rathke's cleft neoplasm, rathkes cleft pituitary epidermoid tumor rathke cleft neopl rathke cleft neoplasm rathke pouch neoplasm rathke pouch tumor rathke's cleft neoplasm rathke's pouch neoplasm rathke's pouch tumor rathke's pouch tumour rathkes cleft neopl rathkes cleft neoplasm rathkes pouch tumor tumor of rathke's pouch tumor, rathke pouch tumor, rathke's pouch |
| Orphanet | |
| DOID | |
| UMLS | C0010276 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:21) C0028754 | obesity | 6 C0020255 | hydrocephalus | 2 C0020635 | hypopituitarism | 2 C0221406 | cushing's disease | 2 C0019618 | histiocytosis | 1 C0948265 | metabolic syndrome | 1 C0206660 | germinoma | 1 C0151740 | intracranial hypertension | 1 C0549423 | obstructive hydrocephalus | 1 C0013377 | dysgerminoma | 1 C0242343 | panhypopituitarism | 1 C0037315 | sleep apnoea | 1 C0001206 | acromegaly | 1 C0520679 | obstructive sleep apnoea | 1 C0041408 | turner syndrome | 1 C0020538 | hypertension | 1 C0679466 | cognitive deficits | 1 C0748616 | sellar tumor | 1 C0026654 | moyamoya | 1 C0037199 | sinusitis | 1 C0026654 | moyamoya syndrome | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:44) 200894 | ARL13B | 2.093 | DISEASES 551 | AVP | 4.152 | DISEASES 650 | BMP2 | 1.133 | DISEASES 768 | CA9 | 1.173 | DISEASES 1118 | CHIT1 | 1.452 | DISEASES 1123 | CHN1 | 1.11 | DISEASES 1382 | CRABP2 | 2.302 | DISEASES 8530 | CST7 | 2.432 | DISEASES 1499 | CTNNB1 | 3.979 | DISEASES 192668 | CYS1 | 1.601 | DISEASES 146754 | DNAH2 | 3.796 | DISEASES 10117 | ENAM | 1.399 | DISEASES 80712 | ESX1 | 1.385 | DISEASES 2302 | FOXJ1 | 1.8 | DISEASES 51738 | GHRL | 2.76 | DISEASES 3481 | IGF2 | 1.65 | DISEASES 3486 | IGFBP3 | 2.79 | DISEASES 102723508 | KANTR | 1.245 | DISEASES 3855 | KRT7 | 1.875 | DISEASES 7044 | LEFTY2 | 1.825 | DISEASES 5609 | MAP2K7 | 1.115 | DISEASES 57708 | MIER1 | 1.861 | DISEASES 4288 | MKI67 | 2.359 | DISEASES 4507 | MTAP | 1.164 | DISEASES 4763 | NF1 | 1.354 | DISEASES 7080 | NKX2-1 | 1.613 | DISEASES 8013 | NR4A3 | 1.344 | DISEASES 2516 | NR5A1 | 1.136 | DISEASES 5449 | POU1F1 | 1.442 | DISEASES 5727 | PTCH1 | 1.596 | DISEASES 9232 | PTTG1 | 1.049 | DISEASES 5697 | PYY | 2.243 | DISEASES 6050 | RNH1 | 1.127 | DISEASES 83482 | SCRT1 | 3.003 | DISEASES 64426 | SUDS3 | 2.27 | DISEASES 51684 | SUFU | 1.272 | DISEASES 6817 | SULT1A1 | 1.063 | DISEASES 6898 | TAT | 1.073 | DISEASES 9095 | TBX19 | 2.287 | DISEASES 117145 | THEM4 | 1.479 | DISEASES 7114 | TMSB4X | 2.121 | DISEASES 10612 | TRIM3 | 2.564 | DISEASES 10376 | TUBA1B | 2.059 | DISEASES 7422 | VEGFA | 1.548 | DISEASES |
| Locus | Symbol | Locus(Total Locus:2) |
| Disease ID | 360 |
|---|---|
| Disease | craniopharyngioma |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:46) HP:0001263 | Global developmental delay HP:0003508 | Proportionate short stature HP:0000863 | Central diabetes insipidus HP:0430000 | Abnormality of the frontal bone HP:0000365 | Hearing impairment HP:0007987 | Progressive visual field defects HP:0002637 | Cerebral ischemia HP:0012286 | Abnormal hypothalamus morphology HP:0008897 | Postnatal growth retardation HP:0001117 | Sudden loss of visual acuity HP:0001262 | Excessive daytime somnolence HP:0000135 | Hypogonadism HP:0012505 | Enlarged pituitary gland HP:0010576 | Intracranial cystic lesion HP:0002591 | Polyphagia HP:0040075 | Hypopituitarism HP:0002516 | Increased intracranial pressure HP:0002017 | Nausea and vomiting HP:0002659 | Increased susceptibility to fractures HP:0003335 | Low gonadotropins (secondary hypogonadism) HP:0002719 | Recurrent infections HP:0001510 | Growth delay HP:0010939 | Abnormality of the nasal bone HP:0005978 | Type II diabetes mellitus HP:0000708 | Behavioral abnormality HP:0001250 | Seizures HP:0001658 | Myocardial infarction HP:0001259 | Coma HP:0002514 | Cerebral calcification HP:0000648 | Optic atrophy HP:0030588 | Abnormal visual field test HP:0000823 | Delayed puberty HP:0002360 | Sleep disturbance HP:0001249 | Intellectual disability HP:0001085 | Papilledema HP:0011750 | Neoplasm of the anterior pituitary HP:0000870 | Prolactin excess HP:0001513 | Obesity HP:0002321 | Vertigo HP:0007924 | Slow decrease in visual acuity HP:0010535 | Sleep apnea HP:0000238 | Hydrocephalus HP:0030521 | Bitemporal hemianopia HP:0002315 | Headache HP:0008245 | Pituitary hypothyroidism HP:0011734 | Central adrenal insufficiency |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:23) HP:0001513 | Obesity | 7 HP:0001262 | Somnolence | 3 HP:0002664 | Neoplasia | 3 HP:0040075 | Hypopituitarism | 2 HP:0000238 | Nonsyndromal hydrocephalus | 2 HP:0002893 | Pituitary adenoma | 1 HP:0001945 | Fever | 1 HP:0100727 | Histiocytosis | 1 HP:0002045 | Abnormally low body temperature | 1 HP:0000572 | Visual loss | 1 HP:0011787 | Central hypothyroidism | 1 HP:0000845 | Acromegalic growth | 1 HP:0100621 | Dysgerminoma | 1 HP:0000871 | Panhypopituitarism | 1 HP:0002516 | Intracranial pressure elevation | 1 HP:0000822 | Hypertension | 1 HP:0002617 | Aneurysmal dilatation | 1 HP:0010535 | Sleep apnea | 1 HP:0002104 | Absence of spontaneous respiration | 1 HP:0100543 | Cognitive deficits | 1 HP:0000246 | Sinus inflammation | 1 HP:0100620 | Germinoma | 1 HP:0002315 | Headaches | 1 |
| Disease ID | 360 |
|---|---|
| Disease | craniopharyngioma |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:23) C1963185 | obesity C1961102 | acute lymphoblastic leukemia C1608408 | malignant transformation C1366535 | diabetes insipidus C0878683 | panhypopituitarism C0728936 | circulatory disorders C0393444 | chemical meningitis C0342397 | iatrogenic hypopituitarism C0271885 | hypothalamic obesity C0271561 | growth hormone deficiency C0271560 | lymphocytic hypophysitis C0240803 | primary cerebral lymphoma C0034013 | pubertas praecox C0034013 | precocious puberty C0033375 | prolactinoma C0032000 | pituitary adenoma C0028756 | severe obesity C0026654 | moyamoya disease C0025517 | metabolic disorders C0023418 | leukemia C0020514 | hyperprolactinemia C0017638 | gliomas C0013338 | pituitary dwarfism |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:5) C0028754 | obesity | 7 C0271885 | hypothalamic obesity | 4 C1608408 | malignant transformation | 2 C0242343 | panhypopituitarism | 1 C0032000 | pituitary adenoma | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:2) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs113488022 | 24413733 | 1499 | CTNNB1 | umls:C0010276 | BeFree | Targeted genotyping revealed BRAF p.Val600Glu in 95% of papillary craniopharyngiomas (36 of 39 tumors) and mutation of CTNNB1 in 96% of adamantinomatous craniopharyngiomas (51 of 53 tumors). | 0.241357209 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24413733 | 673 | BRAF | umls:C0010276 | BeFree | Targeted genotyping revealed BRAF p.Val600Glu in 95% of papillary craniopharyngiomas (36 of 39 tumors) and mutation of CTNNB1 in 96% of adamantinomatous craniopharyngiomas (51 of 53 tumors). | 0.240271442 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:12) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0008897 | Postnatal growth retardation | MP:0011109 | lethality throughout fetal growth and development, 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 between the completion of organogenesis and birth (Mus: E14 to approximately E18.5) |
| HP:0007924 | Slow decrease in visual acuity | MP:0010748 | abnormal visual evoked potential | anomaly in the electroencephalographic pattern recorded from the occipital area generated in response to retinal stimulation such as flashing lights or inverting a contrasting image; may be used to evaluate optic nerve damage or visual perception |
| HP:0002637 | Cerebral ischemia | MP:0006190 | retinal ischemia | inadequate blood flow to the retina usually due to functional constriction or obstruction of a blood vessel |
| HP:0002659 | Increased susceptibility to fractures | MP:0009788 | increased susceptibility to bacterial infection induced morbidity/mortality | increased likelihood that an organism will display the expected moribund state caused by a bacterial invasion or from components of or toxins produced by bacteria |
| HP:0011750 | Neoplasm of the anterior pituitary | MP:0004486 | decreased response of heart to induced stress | decrease in severity of the physiological response of the heart to induced stress such as cardiac hypertrophy due to mechanical pressure overload from aortic banding |
| HP:0001263 | Global developmental delay | MP:0002084 | abnormal developmental patterning | abnormal systematic arrangement of the developing body along an axis |
| HP:0000648 | Optic atrophy | MP:0012506 | brain atrophy | acquired diminution of the size of the brain associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal chan |
| HP:0012286 | Abnormal hypothalamus morphology | MP:0005645 | abnormal hypothalamus physiology | any functional anomaly of the ventral and medial region of the diencephalon forming the walls of the ventral half of the third ventricle, which is normally involved in the functions of the autonomic (visceral motor) nervous system and, through its vascula |
| HP:0007987 | Progressive visual field defects | MP:0006149 | decreased visual acuity | loss of visual acuity or ability to distinguish small details |
| 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:0005978 | Type II 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:0003508 | Proportionate short stature | MP:0004708 | short lumbar vertebrae | reduced length of any or all of the six bony segments of the spine located anterior to the sacral vertebrae and posterior to the thoracic vertebrae |
Mapped by homologous gene(Total Items:40) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0008897 | Postnatal growth retardation | 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:0002315 | Headache | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002516 | Increased intracranial pressure | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| 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:0003508 | Proportionate short stature | MP:0014176 | abnormal cilary zonule morphology | any structural anomaly of the circumferential suspensory ligaments that anchor the lens to the ciliary process and are made of bundles of fibrillin microfibrils, an elaborate system of fibers that spans the gap between the lens and the adjacent nonpigment |
| HP:0001259 | Coma | 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:0000708 | Behavioral abnormality | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| 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:0000238 | Hydrocephalus | MP:0020080 | increased bone mineralization | increase in the rate at which minerals are deposited into bone |
| HP:0002360 | Sleep disturbance | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| 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:0002591 | Polyphagia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0007924 | Slow decrease in visual acuity | MP:0012671 | retinal spots | the appearance of roundish lesions on the retina, frequently white, and may be due to inflammation, degeneration, vasculitis, exudates, edema or mineral deposits |
| HP:0001510 | Growth delay | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0005978 | Type II diabetes mellitus | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002637 | Cerebral ischemia | MP:0014206 | decreased intestinal epithelial sodium ion transmembrane transport | |
| HP:0002017 | Nausea and vomiting | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0000863 | Central diabetes insipidus | MP:0013282 | urinary bladder exstrophy | a herniation of the urinary bladder through an anterior abdominal wall defect; refers to congenital absence of a portion of the lower anterior abdominal wall and the anterior urinary bladder wall, with eversion of the posterior bladder wall through the de |
| HP:0002321 | Vertigo | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| 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:0001263 | Global developmental delay | 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:0001513 | Obesity | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001249 | Intellectual disability | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0011750 | Neoplasm of the anterior pituitary | MP:0005584 | abnormal enzyme/coenzyme activity | altered ability of any enzyme or their cofactors, to act as catalysts to induce chemical changes in other substances |
| HP:0000870 | Prolactin excess | MP:0014167 | ectopic bone | the appearance of an extra bone structure at an atypical location |
| HP:0000823 | Delayed puberty | MP:0020087 | increased susceptibility to non-insulin-dependent diabetes | increased likelihood to develop non-insulin-dependent diabetes |
| HP:0000365 | Hearing impairment | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| 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:0040075 | Hypopituitarism | MP:0011495 | abnormal head shape | any anomaly in the characteristic surface outline or contour of a head of an organism |
| HP:0002514 | Cerebral calcification | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001085 | Papilledema | MP:0013640 | increased bone stiffness | increase in material stiffness (N/mm) during elastic deformation |
| HP:0001658 | Myocardial infarction | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002659 | Increased susceptibility to fractures | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0007987 | Progressive visual field defects | MP:0014059 | abnormal photoreceptor connecting cilium morphology | any structural anomaly of the nonmotile primary cilium that has a 9+0 microtubule array and forms the portion of the axoneme traversing the boundary between the retinal photoreceptor inner and outer segments |
| HP:0002719 | Recurrent infections | 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:0012286 | Abnormal hypothalamus morphology | MP:0020087 | increased susceptibility to non-insulin-dependent diabetes | increased likelihood to develop non-insulin-dependent diabetes |
| HP:0008245 | Pituitary hypothyroidism | MP:0020087 | increased susceptibility to non-insulin-dependent diabetes | increased likelihood to develop non-insulin-dependent diabetes |
| HP:0010535 | Sleep apnea | 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:0000648 | Optic atrophy | 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 |
| Disease ID | 360 |
|---|---|
| Disease | craniopharyngioma |
| Case | (Waiting for update.) |