PedAM

Pediatric Disease Annotations & Medicines


	craniopharyngioma

Disease ID	208
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	ORPHANET:54595
DOID	DOID:3840 DOID:2634
UMLS	C0010276
MeSH	D003397
SNOMED-CT	SNOMEDCT_US_2016_09_01:189179009
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:24) C0028754 \| obesity \| 7 C0020635 \| hypopituitarism \| 2 C0020255 \| hydrocephalus \| 2 C0221406 \| cushing's disease \| 2 C0748616 \| sellar tumor \| 1 C0037315 \| sleep apnoea \| 1 C0020538 \| hypertension \| 1 C0013377 \| dysgerminoma \| 1 C0206660 \| germinoma \| 1 C0041408 \| turner syndrome \| 1 C0854486 \| functioning pituitary adenoma \| 1 C0520679 \| obstructive sleep apnoea \| 1 C0948265 \| metabolic syndrome \| 1 C0001206 \| acromegaly \| 1 C0549423 \| obstructive hydrocephalus \| 1 C0151740 \| intracranial hypertension \| 1 C0026654 \| moyamoya syndrome \| 1 C0242343 \| panhypopituitarism \| 1 C0679466 \| cognitive deficits \| 1 C0001430 \| adenoma \| 1 C0026654 \| moyamoya \| 1 C0032000 \| pituitary adenoma \| 1 C0037199 \| sinusitis \| 1 C0019618 \| histiocytosis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) BRAF \| 673 \| CTD_human;ORPHANET CTNNB1 \| 1499 \| CTD_human;ORPHANET
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:100) 4706 \| NDUFAB1 \| DISEASES 3861 \| KRT14 \| DISEASES 55711 \| FAR2 \| DISEASES 5020 \| OXT \| DISEASES 4254 \| KITLG \| DISEASES 2690 \| GHR \| DISEASES 5948 \| RBP2 \| DISEASES 2691 \| GHRH \| DISEASES 54210 \| TREM1 \| DISEASES 6662 \| SOX9 \| DISEASES 3860 \| KRT13 \| DISEASES 7277 \| TUBA4A \| DISEASES 3630 \| INS \| DISEASES 3958 \| LGALS3 \| DISEASES 27299 \| ADAMDEC1 \| DISEASES 6927 \| HNF1A \| DISEASES 1593 \| CYP27A1 \| DISEASES 9313 \| MMP20 \| DISEASES 3417 \| IDH1 \| DISEASES 11043 \| MID2 \| DISEASES 6598 \| SMARCB1 \| DISEASES 4072 \| EPCAM \| DISEASES 4722 \| NDUFS3 \| DISEASES 4175 \| MCM6 \| DISEASES 5443 \| POMC \| DISEASES 7157 \| TP53 \| DISEASES 1956 \| EGFR \| DISEASES 3484 \| IGFBP1 \| DISEASES 2796 \| GNRH1 \| DISEASES 60496 \| AASDHPPT \| DISEASES 9049 \| AIP \| DISEASES 6750 \| SST \| DISEASES 7079 \| TIMP4 \| DISEASES 6285 \| S100B \| DISEASES 6271 \| S100A1 \| DISEASES 3856 \| KRT8 \| DISEASES 3060 \| HCRT \| DISEASES 9076 \| CLDN1 \| DISEASES 8820 \| HESX1 \| DISEASES 2171 \| FABP5 \| DISEASES 6469 \| SHH \| DISEASES 89927 \| C16orf45 \| DISEASES 4665 \| NAB2 \| DISEASES 5617 \| PRL \| DISEASES 3479 \| IGF1 \| DISEASES 121340 \| SP7 \| DISEASES 7200 \| TRH \| DISEASES 5002 \| SLC22A18 \| DISEASES 56171 \| DNAH7 \| DISEASES 5626 \| PROP1 \| DISEASES 201625 \| DNAH12 \| DISEASES 3952 \| LEP \| DISEASES 2688 \| GH1 \| DISEASES 23512 \| SUZ12 \| DISEASES 7262 \| PHLDA2 \| DISEASES 6819 \| SULT1C2 \| DISEASES 6817 \| SULT1A1 \| DISEASES 2302 \| FOXJ1 \| DISEASES 3855 \| KRT7 \| DISEASES 83482 \| SCRT1 \| DISEASES 5727 \| PTCH1 \| DISEASES 8013 \| NR4A3 \| DISEASES 51738 \| GHRL \| DISEASES 10376 \| TUBA1B \| DISEASES 10612 \| TRIM3 \| DISEASES 5449 \| POU1F1 \| DISEASES 1499 \| CTNNB1 \| DISEASES 9232 \| PTTG1 \| DISEASES 6050 \| RNH1 \| DISEASES 7080 \| NKX2-1 \| DISEASES 6898 \| TAT \| DISEASES 4763 \| NF1 \| DISEASES 5697 \| PYY \| DISEASES 7044 \| LEFTY2 \| DISEASES 1118 \| CHIT1 \| DISEASES 9095 \| TBX19 \| DISEASES 1382 \| CRABP2 \| DISEASES 4288 \| MKI67 \| DISEASES 117145 \| THEM4 \| DISEASES 51684 \| SUFU \| DISEASES 7422 \| VEGFA \| DISEASES 80712 \| ESX1 \| DISEASES 2516 \| NR5A1 \| DISEASES 768 \| CA9 \| DISEASES 650 \| BMP2 \| DISEASES 4507 \| MTAP \| DISEASES 551 \| AVP \| DISEASES 7114 \| TMSB4X \| DISEASES 3486 \| IGFBP3 \| DISEASES 192668 \| CYS1 \| DISEASES 146754 \| DNAH2 \| DISEASES 200894 \| ARL13B \| DISEASES 10117 \| ENAM \| DISEASES 5609 \| MAP2K7 \| DISEASES 57708 \| MIER1 \| DISEASES 1123 \| CHN1 \| DISEASES 3481 \| IGF2 \| DISEASES 8530 \| CST7 \| DISEASES 64426 \| SUDS3 \| DISEASES 102723508 \| KANTR \| DISEASES
Locus	Symbol \| Locus(Total Locus:2) BRAF \| 7q34 CTNNB1 \| 3p22.1

Disease ID	208
Disease	craniopharyngioma
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:46) HP:0008897 \| Postnatal growth retardation HP:0002514 \| Cerebral calcification HP:0001085 \| Papilledema HP:0011750 \| Neoplasm of the anterior pituitary HP:0000823 \| Delayed puberty HP:0000708 \| Behavioral abnormality HP:0003335 \| Low gonadotropins (secondary hypogonadism) HP:0000135 \| Hypogonadism HP:0040075 \| Hypopituitarism HP:0001263 \| Global developmental delay HP:0002591 \| Polyphagia HP:0002637 \| Cerebral ischemia HP:0002321 \| Vertigo HP:0007987 \| Progressive visual field defects HP:0001510 \| Growth delay HP:0002315 \| Headache HP:0012505 \| Enlarged pituitary gland HP:0030588 \| Abnormal visual field test HP:0001250 \| Seizures HP:0000238 \| Hydrocephalus HP:0000863 \| Central diabetes insipidus HP:0000365 \| Hearing impairment HP:0001259 \| Coma HP:0001513 \| Obesity HP:0007924 \| Slow decrease in visual acuity HP:0010535 \| Sleep apnea HP:0002659 \| Increased susceptibility to fractures HP:0005978 \| Type II diabetes mellitus HP:0030521 \| Bitemporal hemianopia HP:0002017 \| Nausea and vomiting HP:0010939 \| Abnormality of the nasal bone HP:0012286 \| Abnormal hypothalamus morphology HP:0001658 \| Myocardial infarction HP:0002516 \| Increased intracranial pressure HP:0001117 \| Sudden loss of visual acuity HP:0002360 \| Sleep disturbance HP:0008245 \| Pituitary hypothyroidism HP:0430000 \| Abnormality of the frontal bone HP:0002719 \| Recurrent infections HP:0001249 \| Intellectual disability HP:0000648 \| Optic atrophy HP:0001262 \| Excessive daytime somnolence HP:0011734 \| Central adrenal insufficiency HP:0010576 \| Intracranial cystic lesion HP:0000870 \| Prolactin excess HP:0003508 \| Proportionate short stature
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:24) HP:0001513 \| Obesity \| 7 HP:0001262 \| Somnolence \| 3 HP:0000238 \| Nonsyndromal hydrocephalus \| 2 HP:0040075 \| Hypopituitarism \| 2 HP:0002664 \| Neoplasia \| 2 HP:0100621 \| Dysgerminoma \| 1 HP:0002104 \| Absence of spontaneous respiration \| 1 HP:0010535 \| Sleep apnea \| 1 HP:0000822 \| Hypertension \| 1 HP:0100543 \| Cognitive deficits \| 1 HP:0100727 \| Histiocytosis \| 1 HP:0002617 \| Aneurysmal dilatation \| 1 HP:0011787 \| Central hypothyroidism \| 1 HP:0000246 \| Sinus inflammation \| 1 HP:0001300 \| Parkinsonism \| 1 HP:0000572 \| Visual loss \| 1 HP:0002893 \| Pituitary adenoma \| 1 HP:0002315 \| Headaches \| 1 HP:0100620 \| Germinoma \| 1 HP:0001945 \| Fever \| 1 HP:0002045 \| Abnormally low body temperature \| 1 HP:0000871 \| Panhypopituitarism \| 1 HP:0002516 \| Intracranial pressure elevation \| 1 HP:0000845 \| Acromegalic growth \| 1

Disease ID	208
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.)

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:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
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FDA labeling changes(Total Drugs:0)
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