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MCID: CRN036
MIFTS: 63

Craniopharyngioma

Categories: Cancer diseases, Endocrine diseases, Eye diseases, Fetal diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Craniopharyngioma

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MalaCards integrated aliases for Craniopharyngioma:

Name: Craniopharyngioma 12 20 58 54 6 44 15 17 70
Dysodontogenic Epithelial Tumor 20
Craniopharyngeal Duct Tumor 20
Neoplasm of Rathke's Pouch 12
Adamantinomatous Tumor 20
Rathke's Pouch Tumor 20

Characteristics:

Orphanet epidemiological data:

58
craniopharyngioma
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe),1-9/1000000 (United States),1-9/1000000 (Sweden); Age of onset: All ages;

Classifications:

MalaCards categories:
Global: Rare diseases Cancer diseases Fetal diseases
Anatomical: Neuronal diseases Endocrine diseases Eye diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare neurological diseases
Rare endocrine diseases


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Summaries for Craniopharyngioma

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GARD : 20 Craniopharyngioma is a slow-growing, non-cancerous brain tumor that develops near the pituitary gland (a small endocrine gland at the base of the brain which produces several important hormones ) and the hypothalamus (an endocrine organ which controls the release of hormones by the pituitary gland). This tumor most commonly affects children between 5 and 10 years of age; however, adults can sometimes be affected. Although craniopharyngiomas are not cancerous, they may grow and press on nearby parts of the brain, causing symptoms including hormonal changes, vision changes, slow growth, headaches, nausea and vomiting, loss of balance, hearing loss, and changes in mood or behavior. The cause of these tumors is not well understood; however, researchers suspect that they begin to form during the early stages of embryo development in pregnancy (embryogenesis) and may result from metaplasia (abnormal transformation of cells ). Treatment for craniopharyngioma varies and may involve surgery to remove the tumor, radiation therapy, chemotherapy, biologic therapy, and/or hormone therapy to replace various hormones no longer produced or secreted due to the tumor or its treatment.

MalaCards based summary : Craniopharyngioma, also known as dysodontogenic epithelial tumor, is related to papillary craniopharyngioma and adamantinous craniopharyngioma, and has symptoms including visual disturbance An important gene associated with Craniopharyngioma is APC (APC Regulator Of WNT Signaling Pathway), and among its related pathways/superpathways are Nanog in Mammalian ESC Pluripotency and PI3K-Akt signaling pathway. The drugs Hydrocortisone and Hydrocortisone acetate have been mentioned in the context of this disorder. Affiliated tissues include pituitary, brain and hypothalamus, and related phenotypes are abnormal hypothalamus morphology and cerebral calcification

Wikipedia : 73 A craniopharyngioma is a rare type of brain tumor derived from pituitary gland embryonic tissue that... more...

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Related Diseases for Craniopharyngioma

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Diseases related to Craniopharyngioma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 524)
# Related Disease Score Top Affiliating Genes
1 papillary craniopharyngioma 32.8 KRT7 CTNNB1 BRAF
2 adamantinous craniopharyngioma 31.9 PROP1 POU1F1 LEF1 CTNNB1
3 hypothalamic obesity 31.5 LEPR INS IGF1
4 diabetes insipidus 31.0 PRL INS GH1
5 ameloblastoma 30.9 PTCH1 KRT8 KRT14 CTNNB1
6 pilomatrixoma 30.5 LEF1 KRT14 CTNNB1
7 leptin deficiency or dysfunction 30.5 TRH LEPR INS IGF1 GNRH1 GHRL
8 precocious puberty 30.5 PTCH1 LEPR GNRH1 GH1
9 galactorrhea 30.5 PRL IGF1
10 eating disorder 30.5 LEPR GHRL GH1
11 pituitary adenoma 30.2 TRH PRL POU1F1 IGF1 GNRH1 GH1
12 sleep apnea 30.2 LEPR INS IGF1 GHRL
13 amenorrhea 30.2 TRH PRL INS IGF1 GNRH1 GHRL
14 non-alcoholic steatohepatitis 30.2 LEPR INS IGF1 GHRL
15 hyperinsulinism 30.1 LEPR INS IGF1 GNRH1 GHRL GH1
16 body mass index quantitative trait locus 11 30.1 TRH LEPR INS IGF1 GHRL GH1
17 sleep disorder 30.1 PRL INS IGF1 GHRL
18 apnea, obstructive sleep 30.1 INS IGF1 GHRL
19 hypogonadotropic hypogonadism 30.0 PRL LEPR INS GNRH1
20 adenoma 30.0 TRH PRL POU1F1 KRT7 IGF1 GH1
21 impotence 30.0 PRL INS GNRH1
22 hypoglycemia 29.9 PRL INS IGF1 GH1
23 sexual disorder 29.9 PRL INS IGF1 GNRH1
24 pituitary hormone deficiency, combined, 2 29.9 TRH PROP1 PRL POU1F1 IGF1 GH1
25 chromophobe adenoma 29.9 TRH PRL GH1
26 hypogonadism 29.8 PROP1 PRL INS IGF1 GNRH1
27 hyperprolactinemia 29.8 TRH PRL INS IGF1 GNRH1 GH1
28 liver cirrhosis 29.8 LEPR KRT8 INS IGF1 CTNNB1 APC
29 pituitary apoplexy 29.8 PRL INS IGF1 GNRH1 GH1
30 central nervous system benign neoplasm 29.7 PRL IGF1 CTNNB1
31 insulin-like growth factor i 29.7 PRL INS IGF1 GH1
32 alopecia 29.7 PRL KRT14 IGF1 CTNNB1
33 pituitary tumors 29.7 PROP1 PRL IGF1 GH1
34 hypopituitarism 29.6 TRH PROP1 PRL POU1F1 INS IGF1
35 turner syndrome 29.6 INS IGF1 GH1
36 functioning pituitary adenoma 29.5 TRH PRL IGF1 GH1
37 pituitary adenoma, prolactin-secreting 29.4 TRH PRL POU1F1 IGF1 GNRH1 GH1
38 hypothalamic disease 29.4 TRH PRL INS GNRH1 GH1
39 anorexia nervosa 29.3 PRL LEPR INS IGF1 GHRL GH1
40 hyperthyroidism 29.3 TRH PRL INS IGF1 GHRL GH1
41 conn's syndrome 29.2 TRH PRL IGF1 GNRH1 GHRL GH1
42 acromegaly 29.1 TRH PRL LEPR INS IGF1 GNRH1
43 isolated growth hormone deficiency 29.1 PROP1 POU1F1 IGF1 GH1
44 pituitary gland disease 29.1 TRH PROP1 PRL POU1F1 INS IGF1
45 hypothyroidism 29.1 TRH PROP1 PRL POU1F1 INS IGF1
46 prader-willi syndrome 29.0 TRH PRL LEPR INS IGF1 GNRH1
47 hypothyroidism, congenital, nongoitrous, 4 29.0 PROP1 PRL POU1F1 GH1
48 kallmann syndrome 28.9 PROP1 PRL POU1F1 LEPR GNRH1
49 osteoporosis 28.8 PRL LEPR INS IGF1 GNRH1 GHRL
50 empty sella syndrome 28.3 TRH PROP1 PRL INS IGF1 GNRH1

Graphical network of the top 20 diseases related to Craniopharyngioma:



Diseases related to Craniopharyngioma
Sources

Symptoms & Phenotypes for Craniopharyngioma

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Human phenotypes related to Craniopharyngioma:

58 31 (show all 48)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal hypothalamus morphology 58 31 obligate (100%) Obligate (100%) HP:0012286
2 cerebral calcification 58 31 hallmark (90%) Very frequent (99-80%) HP:0002514
3 enlarged pituitary gland 58 31 hallmark (90%) Very frequent (99-80%) HP:0012505
4 intracranial cystic lesion 58 31 hallmark (90%) Very frequent (99-80%) HP:0010576
5 neoplasm of the anterior pituitary 58 31 hallmark (90%) Very frequent (99-80%) HP:0011750
6 nausea and vomiting 58 31 frequent (33%) Frequent (79-30%) HP:0002017
7 obesity 58 31 frequent (33%) Frequent (79-30%) HP:0001513
8 headache 58 31 frequent (33%) Frequent (79-30%) HP:0002315
9 excessive daytime somnolence 58 31 frequent (33%) Frequent (79-30%) HP:0001262
10 pituitary hypothyroidism 58 31 frequent (33%) Frequent (79-30%) HP:0008245
11 central diabetes insipidus 58 31 frequent (33%) Frequent (79-30%) HP:0000863
12 papilledema 58 31 frequent (33%) Frequent (79-30%) HP:0001085
13 central adrenal insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0011734
14 bitemporal hemianopia 58 31 frequent (33%) Frequent (79-30%) HP:0030521
15 increased circulating prolactin concentration 58 31 frequent (33%) Frequent (79-30%) HP:0000870
16 progressive visual field defects 58 31 frequent (33%) Frequent (79-30%) HP:0007987
17 abnormal visual field test 58 31 frequent (33%) Frequent (79-30%) HP:0030588
18 slow decrease in visual acuity 58 31 frequent (33%) Frequent (79-30%) HP:0007924
19 hypogonadotropic hypogonadism 31 frequent (33%) HP:0000044
20 sleep apnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0010535
21 hydrocephalus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000238
22 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
23 type ii diabetes mellitus 58 31 occasional (7.5%) Occasional (29-5%) HP:0005978
24 increased intracranial pressure 58 31 occasional (7.5%) Occasional (29-5%) HP:0002516
25 optic atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000648
26 delayed puberty 58 31 occasional (7.5%) Occasional (29-5%) HP:0000823
27 cerebral ischemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002637
28 increased susceptibility to fractures 58 31 occasional (7.5%) Occasional (29-5%) HP:0002659
29 polyphagia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002591
30 proportionate short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0003508
31 intellectual disability 58 31 very rare (1%) Very rare (<4-1%) HP:0001249
32 global developmental delay 58 31 very rare (1%) Very rare (<4-1%) HP:0001263
33 postnatal growth retardation 58 31 very rare (1%) Very rare (<4-1%) HP:0008897
34 myocardial infarction 58 31 very rare (1%) Very rare (<4-1%) HP:0001658
35 vertigo 58 31 very rare (1%) Very rare (<4-1%) HP:0002321
36 recurrent infections 58 31 very rare (1%) Very rare (<4-1%) HP:0002719
37 coma 58 31 very rare (1%) Very rare (<4-1%) HP:0001259
38 sudden loss of visual acuity 58 31 very rare (1%) Very rare (<4-1%) HP:0001117
39 abnormality of the nasal bone 58 31 very rare (1%) Very rare (<4-1%) HP:0010939
40 abnormality of the frontal bone 58 31 very rare (1%) Very rare (<4-1%) HP:0430000
41 seizure 31 very rare (1%) HP:0001250
42 seizures 58 Very rare (<4-1%)
43 sleep disturbance 58 Frequent (79-30%)
44 behavioral abnormality 58 Very rare (<4-1%)
45 growth delay 58 Occasional (29-5%)
46 hypogonadism 58 Frequent (79-30%)
47 low gonadotropins (secondary hypogonadism) 58 Frequent (79-30%)
48 hypopituitarism 58 Very frequent (99-80%)

UMLS symptoms related to Craniopharyngioma:


visual disturbance

GenomeRNAi Phenotypes related to Craniopharyngioma according to GeneCards Suite gene sharing:

26 (show all 33)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.97 GH1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.97 POU1F1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.97 KRT8
4 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.97 GH1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-133 9.97 APC
6 Increased shRNA abundance (Z-score > 2) GR00366-A-135 9.97 KRT7 KRT8 GH1 POU1F1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-139 9.97 GH1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.97 POU1F1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.97 GH1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-180 9.97 KRT8
11 Increased shRNA abundance (Z-score > 2) GR00366-A-185 9.97 POU1F1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-192 9.97 APC KRT7 KRT8
13 Increased shRNA abundance (Z-score > 2) GR00366-A-202 9.97 APC
14 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.97 GH1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.97 POU1F1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-40 9.97 KRT8
17 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.97 CTNNB1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-54 9.97 GH1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-60 9.97 GH1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-68 9.97 KRT7
21 Increased shRNA abundance (Z-score > 2) GR00366-A-72 9.97 KRT7
22 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.97 KRT7 KRT8
23 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.97 POU1F1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-91 9.97 KRT7
25 Increased shRNA abundance (Z-score > 2) GR00366-A-96 9.97 GH1
26 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.97 POU1F1
27 Decreased shRNA abundance (Z-score < -2) GR00366-A-177 9.56 APC
28 Decreased shRNA abundance (Z-score < -2) GR00366-A-29 9.56 APC
29 Decreased shRNA abundance (Z-score < -2) GR00366-A-49 9.56 APC
30 Decreased shRNA abundance (Z-score < -2) GR00366-A-6 9.56 KRT8
31 Decreased shRNA abundance (Z-score < -2) GR00366-A-71 9.56 KRT7 KRT8
32 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 9.56 APC
33 Decreased shRNA abundance (Z-score < -2) GR00366-A-74 9.56 APC

MGI Mouse Phenotypes related to Craniopharyngioma:

46 (show all 21)
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.48 APC BRAF CTNNB1 ERCC2 GHRL GNRH1
2 growth/size/body region MP:0005378 10.47 APC BRAF CTNNB1 ERCC2 GNRH1 IGF1
3 homeostasis/metabolism MP:0005376 10.47 APC BRAF CTNNB1 ERCC2 GHRL GNRH1
4 cellular MP:0005384 10.4 APC BRAF CTNNB1 ERCC2 IGF1 INS
5 hematopoietic system MP:0005397 10.39 APC BRAF CTNNB1 ERCC2 GNRH1 IGF1
6 immune system MP:0005387 10.37 APC BRAF CTNNB1 ERCC2 GNRH1 IGF1
7 digestive/alimentary MP:0005381 10.32 APC BRAF CTNNB1 GHRL GNRH1 INS
8 mortality/aging MP:0010768 10.3 APC BRAF CTNNB1 ERCC2 IGF1 INS
9 integument MP:0010771 10.29 APC BRAF CTNNB1 ERCC2 GNRH1 IGF1
10 adipose tissue MP:0005375 10.25 APC BRAF ERCC2 GHRL IGF1 INS
11 nervous system MP:0003631 10.25 APC BRAF CTNNB1 ERCC2 GNRH1 IGF1
12 neoplasm MP:0002006 10.17 APC BRAF CTNNB1 ERCC2 GNRH1 IGF1
13 hearing/vestibular/ear MP:0005377 10.1 APC BRAF CTNNB1 IGF1 KRT14 POU1F1
14 liver/biliary system MP:0005370 10.08 APC BRAF CTNNB1 GNRH1 INS KRT8
15 limbs/digits/tail MP:0005371 10.04 APC BRAF CTNNB1 IGF1 LEF1 LEPR
16 reproductive system MP:0005389 10.03 APC BRAF CTNNB1 ERCC2 GNRH1 IGF1
17 normal MP:0002873 10.02 APC BRAF CTNNB1 GHRL GNRH1 IGF1
18 renal/urinary system MP:0005367 9.96 APC BRAF CTNNB1 GNRH1 IGF1 INS
19 pigmentation MP:0001186 9.92 APC BRAF CTNNB1 ERCC2 KRT14 LEF1
20 skeleton MP:0005390 9.73 APC BRAF CTNNB1 ERCC2 GNRH1 IGF1
21 vision/eye MP:0005391 9.28 APC BRAF CTNNB1 ERCC2 INS KRT14
Sources

Drugs & Therapeutics for Craniopharyngioma

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Drugs for Craniopharyngioma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 62)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754
2
Hydrocortisone acetate Approved, Vet_approved Phase 4 50-03-3
3
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
4 glucocorticoids Phase 4
5 Antineoplastic Agents, Hormonal Phase 4
6 Anti-Inflammatory Agents Phase 4
7 Anesthetics Phase 4
8 Hydrocortisone hemisuccinate Phase 4
9 Hydrocortisone 17-butyrate 21-propionate Phase 4
10
Diazoxide Approved Phase 3 364-98-7 3019
11
Exenatide Approved, Investigational Phase 3 141758-74-9 15991534
12
Glucagon Approved Phase 3 16941-32-5
13 Vasodilator Agents Phase 3
14 Hypoglycemic Agents Phase 3
15 Antihypertensive Agents Phase 3
16 Anti-Obesity Agents Phase 3
17 Glucagon-Like Peptide 1 Phase 3
18 Incretins Phase 3
19
Metformin Approved Phase 2 657-24-9 14219 4091
20
Irinotecan Approved, Investigational Phase 2 97682-44-5, 100286-90-6 60838
21
Vemurafenib Approved Phase 2 918504-65-1 23252090 42611257
22
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
23
Memantine Approved, Investigational Phase 2 19982-08-2 4054
24
Oxytocin Approved, Vet_approved Phase 2 50-56-6 439302 53477758
25
Peginterferon alfa-2b Approved Phase 2 215647-85-1, 99210-65-8
26
Methionine Approved, Nutraceutical Phase 2 63-68-3 6137
27 Hormones Phase 2
28 insulin Phase 2
29 Insulin, Globin Zinc Phase 2
30 Hormone Antagonists Phase 2
31 Angiogenesis Inhibitors Phase 2
32 CKD732 Phase 2
33 topoisomerase I inhibitors Phase 2
34 Protein Kinase Inhibitors Phase 2
35 Dopamine Agents Phase 2
36 Antiparkinson Agents Phase 2
37 Excitatory Amino Acid Antagonists Phase 2
38 Neurotransmitter Agents Phase 2
39 Fluorodeoxyglucose F18 Phase 2
40 Anti-Infective Agents Phase 2
41 Antiviral Agents Phase 2
42
Vorinostat Approved, Investigational Phase 1 149647-78-9 5311
43
Temozolomide Approved, Investigational Phase 1 85622-93-1 5394
44
Bortezomib Approved, Investigational Phase 1 179324-69-7 387447 93860
45
Lenograstim Approved, Investigational Phase 1 135968-09-1
46
Lenalidomide Approved Phase 1 191732-72-6 216326
47
Romidepsin Approved, Investigational Phase 1 128517-07-7 5352062
48
Dexamethasone Approved, Investigational, Vet_approved Phase 1 50-02-2 5743
49
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 1 1177-87-3
50
Veliparib Investigational Phase 1 912444-00-9 11960529

Interventional clinical trials:

(show all 47)
# Name Status NCT ID Phase Drugs
1 Effect of Perioperative Glucocorticoid Replacement on Prognosis of Surgical Patients With Sellar Lesions Unknown status NCT02190994 Phase 4 Hydrocortisone;Prednisone
2 Efficacy of Stereotactic Conformal Radiotherapy (SCRT) Compared to Conventional Radiotherapy in Minimising Late Sequelae in Children and Young Adults With Brain Tumours: a Randomised Clinical Trial Unknown status NCT00517959 Phase 3
3 Multicentre Double-blind Randomized Clinical Trial Assessing Efficacy and Safety of Exenatide in the Treatment of Hypothalamic Obesity After Craniopharyngioma Therapy Completed NCT02860923 Phase 3 Exenatide;Placebo
4 Clinical Assessment of the Treatment With Diazoxide in Children Suffering From Obesity and Hyperinsulinemia Secondary to Surgery of Hypothalamic-pituitary Lesions Completed NCT00306683 Phase 3 DIAZOXIDE
5 Combined Diazoxide and Metformin Therapy in Children With Hypothalamic Obesity Secondary to Craniopharyngioma: A Pilot Study Completed NCT00892073 Phase 2 Diazoxide;Metformin
6 Randomized, Double-Blind, Placebo Controlled, Phase 2a Trial of ZGN-440 (Subcutaneous Beloranib in Suspension), A Novel Methionine Aminopeptidase 2 Inhibitor, in Obese Subjects With Hypothalamic Injury to Evaluate Weight Reduction and Safety Over 4 Weeks Followed by an Optional 4-Week Open-Label Extension Completed NCT02063295 Phase 2 ZGN-440 sterile diluent;ZGN-440 for injectable suspension
7 Phase II Trial of Irinotecan in Children With Refractory Solid Tumors Completed NCT00004078 Phase 2 irinotecan hydrochloride
8 Effects of Exenatide on Body Weight in Patients With Hypothalamic Obesity Completed NCT01484873 Phase 2 Exenatide
9 A Phase II Trial of Intensity-Modulated Proton Therapy for Incompletely Resected Craniopharyngioma and Observation for Craniopharyngioma After Radical Resection Recruiting NCT02792582 Phase 2
10 Phase II Trial of BRAF/MEK Inhibitors in Papillary Craniopharyngiomas Recruiting NCT03224767 Phase 2 Vemurafenib;Cobimetinib
11 Methionine PET/CT Studies In Patients With Cancer Recruiting NCT00840047 Phase 2 Methionine
12 Memantine for Prevention of Cognitive Late Effects in Pediatric Patients Receiving Cranial Radiation Therapy for Localized Brain Tumors: A Pilot Study Recruiting NCT03194906 Phase 2 Memantine
13 Intranasal Oxytocin to Promote Weight Loss in Children, Adolescents, and Adults With Brain Tumors and Hypothalamic Obesity Syndrome Active, not recruiting NCT02849743 Phase 2 Syntocinon;Placebo (for Syntocinon)
14 Phase II Study on the Management of Pediatric Craniopharyngioma by a Combination of Partial Surgical Resection, and Protontherapy Active, not recruiting NCT02842723 Phase 2
15 A Phase II Trial of Limited Surgery and Proton Therapy for Craniopharyngioma and Observation for Craniopharyngioma After Radical Resection Active, not recruiting NCT01419067 Phase 2 ^1^8F-fluorodeoxyglucose;^1^1C-methionine
16 A Phase II Study of Image-Guided Radiation Therapy for Pediatric CNS Tumors and Quantification of Radiation-Related CNS Effects Active, not recruiting NCT00187226 Phase 2
17 A Phase 2 Study of Fluorescence Detection of Adult Primary Central Nervous System Tumors in Subjects Receiving Tozuleristide and Imaged With the Canvas System Not yet recruiting NCT04743310 Phase 2 tozuleristide
18 Phase II Study of Peginterferon Alfa-2b (Sylatron) for Pediatric Patients With Unresectable or Recurrent Craniopharyngioma Terminated NCT01964300 Phase 2
19 A Phase I Study of SAHA and Temozolomide in Children With Relapsed or Refractory Primary Brain or Spinal Cord Tumors Completed NCT01076530 Phase 1 vorinostat;temozolomide
20 A Phase I Study of ABT-888, an Oral Inhibitor of Poly (ADP-Ribose) Polymerase and Temozolomide in Children With Recurrent/Refractory CNS Tumors Completed NCT00946335 Phase 1 veliparib;temozolomide
21 Phase 1 Trial of RO4929097 in Combination With Standard Radiotherapy and Temozolomide for Newly Diagnosed Malignant Glioma: A Pharmacokinetic and Pharmacodynamic Study Completed NCT01119599 Phase 1 Gamma-Secretase Inhibitor RO4929097;Temozolomide
22 A Phase I Study of Vorinostat and Bortezomib in Children With Refractory or Recurrent Solid Tumors, Including CNS Tumors and Lymphomas Completed NCT00994500 Phase 1 vorinostat;bortezomib
23 Phase I Study of Cilengitide (EMD 121974) in Children With Refractory Brain Tumors Completed NCT00063973 Phase 1 cilengitide
24 Phase I Pilot Study of Stereotaxic Radiosurgery in Patients With Intracranial Neoplasms Completed NCT00019578 Phase 1
25 A PHASE 1 STUDY OF ISPINESIB (SB-715992) IN PEDIATRIC PATIENTS WITH RELAPSED OR REFRACTORY SOLID TUMORS Completed NCT00363272 Phase 1 ispinesib
26 Phase I Trial of Temozolomide and O6-Benzylguanine in Pediatric Patients With Recurrent Brain Tumors Completed NCT00052780 Phase 1 O6-benzylguanine;temozolomide
27 A Phase I Trial of CC-5013 (Lenalidomide) in Pediatric Patients With Recurrent or Refractory Primary CNS Tumors Completed NCT00100880 Phase 1 lenalidomide
28 A PHASE I STUDY OF DEPSIPEPTIDE (NSC#630176, IND# 51810) IN PEDIATRIC PATIENTS WITH REFRACTORY SOLID TUMORS AND LEUKEMIAS Completed NCT00053963 Phase 1 romidepsin
29 A PHASE 1/2 STUDY OF RO4929097, AN ORAL SMALL MOLECULE INHIBITOR OF GAMMA-SECRETASE, IN CHILDREN WITH RELAPSED/REFRACTORY SOLID OR CNS TUMORS, LYMPHOMA, OR T-CELL LEUKEMIA Terminated NCT01088763 Phase 1 gamma-secretase/Notch signalling pathway inhibitor RO4929097;dexamethasone
30 Microenvironment: Imaging/Implications in Brain Tumors; A Preliminary Investigation of the Biodistribution of [F-18]-EF5 in Patients With Brain Tumors Terminated NCT00110032 Phase 1 EF5
31 Tumor Classification and Its Application in Surgical Treatment of Craniopharyngioma Unknown status NCT00949156
32 KRANIOPHARYNGEOM 2007 - Multicenter Prospective Study of Children and Adolescents With Craniopharyngioma Completed NCT01272622
33 Intraoperative Use of a MR Tomography System Combined With Neuronavigation - Analysis of the Craniopharyngioma Subgroup ("Intraoperative Nutzung Eines Kernspintomographie-Systems in Direkter Kopplung Mit Einem Neuronavigations-System") Completed NCT01206543
34 Examining Sleep and Family Functioning in Pediatric Craniopharyngioma Using Ecological Momentary Assessment Completed NCT03330080
35 Weight Gain in Surgically Treated Adult-onset Craniopharyngioma Completed NCT01968603
36 Social Participation After Childhood Craniopharyngioma Completed NCT03139526
37 Prospective, Multi-Center Survey Study of Children and Adolescents With Craniopharyngioma Completed NCT00258453
38 Cross Sectional Study of Sleep-wake and Melatonin Patterns in Patients Treated for Craniopharyngiomas Compared to Matched Controls Completed NCT01881854
39 A Children's Oncology Group Protocol for Collecting and Banking Pediatric Brain Tumor Research Specimens Completed NCT00919750
40 KRANIOPHARYNGEOM Registry 2019 Multicenter Registry for Patients With Childhood-onset Craniopharyngioma, Xanthogranuloma, Cysts of Rathke's Pouch, Meningioma, Pituitary Adenoma, Arachnoid Cysts Recruiting NCT04158284
41 A Phase 0/Feasibility Trial of Tocilizumab in Children and Adolescents With Newly- Diagnosed or Recurrent/Progressive Adamantinomatous Craniopharyngioma Recruiting NCT03970226 Early Phase 1 Tocilizumab
42 Proton Therapy Research Infrastructure- ProTRAIT- Neuro-oncology Recruiting NCT04648462
43 A Prospective Longitudinal Quality of Life Study in Patients Undergoing Endoscopic Endonasal Skull Base Surgery Recruiting NCT04087902
44 Molecular-guided Therapy for the Treatment of Patients With Relapsed and Refractory Childhood Cancers Active, not recruiting NCT02162732
45 Advancing Treatment for Pediatric Craniopharyngioma: Prospective Pilot Study Identifying Clinically Relevant Biological Targets for Medical Therapy Enrolling by invitation NCT03610906
46 Deep Brain Stimulation for Hypothalamic Obesity: A Surgical & Neuroimaging Study Withdrawn NCT03708913
47 Efficacy of 68Ga-DOTATOC Positron Emission Tomography (PET) CT in Children and Young Adults With Brain Tumors Withdrawn NCT02194452

Search NIH Clinical Center for Craniopharyngioma

Cochrane evidence based reviews: craniopharyngioma

Sources

Genetic Tests for Craniopharyngioma

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Sources

Anatomical Context for Craniopharyngioma

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MalaCards organs/tissues related to Craniopharyngioma:

40
Pituitary, Brain, Hypothalamus, Breast, Bone, Eye, Thyroid
Sources

Publications for Craniopharyngioma

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Articles related to Craniopharyngioma:

(show top 50) (show all 3364)
# Title Authors PMID Year
1
Oxytocin and Naltrexone Successfully Treat Hypothalamic Obesity in a Boy Post-Craniopharyngioma Resection. 20 61
29220529 2018
2
First experiences with neuropsychological effects of oxytocin administration in childhood-onset craniopharyngioma. 20 61
28213803 2017
3
Oxytocin in survivors of childhood-onset craniopharyngioma. 61 20
27585663 2016
4
Specific behaviour, mood and personality traits may contribute to obesity in patients with craniopharyngioma. 20 61
24923438 2015
5
Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 6
25157968 2014
6
Novel immunohistochemical markers in the diagnosis of nonglial tumors of nervous system. 61 54
20179436 2010
7
The differential diagnosis of central nervous system tumors: a critical examination of some recent immunohistochemical applications. 61 54
18318590 2008
8
Expression of human MCM6 and DNA Topo II alpha in craniopharyngiomas and its correlation with recurrence of the tumor. 61 54
17410335 2007
9
Acquired prolactin deficiency in patients with disorders of the hypothalamic-pituitary axis. 61 54
17556861 2007
10
[Expression of minichromosome maintenance protein 6 in craniopharyngioma and its correlation with prognosis]. 54 61
17294730 2007
11
Mutation in exon 7 of PTCH deregulates SHH/PTCH/SMO signaling: possible linkage to WNT. 61 54
16596257 2006
12
Hypersomnolence and increased REM sleep with low cerebrospinal fluid hypocretin level in a patient after removal of craniopharyngioma. 54 61
16084764 2005
13
Expression and growth dependency of the insulin-like growth factor I receptor in craniopharyngioma cells: a novel therapeutic approach. 54 61
16000560 2005
14
Beta-catenin mutations in craniopharyngiomas and pituitary adenomas. 61 54
15980970 2005
15
Common mutations of beta-catenin in adamantinomatous craniopharyngiomas but not in other tumours originating from the sellar region. 54 61
15891929 2005
16
The clinical, metabolic and endocrine features and the quality of life in adults with childhood-onset craniopharyngioma compared with adult-onset craniopharyngioma. 61 54
15817911 2005
17
Possible linkage between specific histological structures and aberrant reactivation of the Wnt pathway in adamantinomatous craniopharyngioma. 54 61
15221941 2004
18
Beta-catenin mutations are frequent in calcifying odontogenic cysts, but rare in ameloblastomas. 61 54
14578169 2003
19
Craniopharyngiomas of adamantinomatous type harbor beta-catenin gene mutations. 54 61
12466115 2002
20
Growth without growth hormone. 61 54
12510977 2002
21
Differential expression of cytokeratins 8 and 20 distinguishes craniopharyngioma from rathke cleft cyst. 54 61
12296753 2002
22
Craniopharyngioma: a case report and comparative galectin histochemical analysis. 61 54
12495217 2002
23
Pseudotumor of the pituitary due to PROP-1 deletion. 61 54
11822586 2002
24
A study of the growth-promoting and metabolic effects of growth hormone (GH) in a patient with the "growth without GH" syndrome. 54 61
11735238 2001
25
Different keratin profiles in craniopharyngioma subtypes and ameloblastomas. 61 54
11770017 2001
26
The use of insulin-like growth factor 1 reference values for the diagnosis of growth hormone deficiency in prepubertal children. 54 61
10848878 2000
27
A boy with normal growth in spite of growth hormone deficiency after resection of a suprasellar teratoma. 61 54
10890195 2000
28
Somatostatin receptor tumor imaging (Tc 99m P829) in pituitary adenoma. 54 61
10659562 1999
29
Serum IGF-I and IGFBP-3 concentrations do not accurately predict growth hormone deficiency in children with brain tumours. 54 61
10469014 1999
30
The prevalence of severe growth hormone deficiency in adults who received growth hormone replacement in childhood [see comment]. 61 54
8729528 1996
31
Effective use of magnetic resonance imaging in the assessment of children with possible growth hormone deficiency. 54 61
15251557 1996
32
Could craniopharyngiomas produce pituitary hormones? 54 61
8098858 1993
33
Discontinuation of growth hormone therapy in growth-hormone-deficient patients: assessment of body fat mass using bioelectrical impedance. 54 61
8314202 1993
34
Pulsatile prolactin secretion in hyperprolactinemia due to presumed pituitary stalk interruption. 61 54
1955511 1991
35
Demonstration of insulin-like growth factors I, II and heterogeneous insulin-like growth factor binding proteins in the cyst fluid of patients with craniopharyngioma. 61 54
1719442 1991
36
Predictors of Postoperative Visual Outcome After Surgical Intervention for Craniopharyngiomas. 61
33482413 2021
37
Management of sellar and parasellar tumors becoming symptomatic during pregnancy: a practical algorithm based on multi-center experience and systematic literature review. 61
33200305 2021
38
Perioperative management of Fontan operation for the child with panhypopituitarism: a case report. 61
33449198 2021
39
Craniopharyngioma in a young woman with symptoms presenting as mechanical neck pain associated with cervicogenic headache: a case report. 61
31271335 2021
40
Correction to: Clinical outcomes following proton therapy for adult craniopharyngioma: a single‑institution cohort study. 61
33751336 2021
41
Postoperative and Long-Term Endocrinologic Complications of Craniopharyngioma. 61
33794526 2021
42
Establishing a papillary craniopharyngioma cell line by SV40LT-mediated immortalization. 61
33044631 2021
43
Endoscopic extended transsphenoidal surgery for newly diagnosed paediatric craniopharyngiomas. 61
33665678 2021
44
Safety and efficacy of endoscopic dorsum sellar resection for access to retro-infundibular or upper clival tumors (KOSEN-008∗). 61
33771748 2021
45
Pituitary infundibular epidermoid cyst: a rare cause of hypopituitarism. 61
33762289 2021
46
Typical Pediatric Brain Tumors Occurring in Adults-Differences in Management and Outcome. 61
33808415 2021
47
Brain MRIs may be of low value in most children diagnosed with isolated growth hormone deficiency. 61
33618442 2021
48
Revived Attention for Adult Craniopharyngioma. 61
32750720 2021
49
Do Anxiety and Mood Vary among Disparate Sleep Profiles in Youth with Craniopharyngioma? A Latent Profile Analysis. 61
33661060 2021
50
Clinical and endocrinological manifestations of childhood-onset craniopharyngioma before surgical removal: A report from one medical center in Taiwan. 61
33376065 2021
Sources

Variations for Craniopharyngioma

About this section

ClinVar genetic disease variations for Craniopharyngioma:

6 (show all 19)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 APC NM_000038.6(APC):c.3183_3187del (p.Lys1061_Gln1062insTer) Deletion Pathogenic 88913 rs587779352 GRCh37: 5:112174471-112174475
GRCh38: 5:112838774-112838778
2 CTNNB1 NM_001904.4(CTNNB1):c.94G>T (p.Asp32Tyr) SNV Likely pathogenic 17581 rs28931588 GRCh37: 3:41266097-41266097
GRCh38: 3:41224606-41224606
3 CTNNB1 NM_001904.4(CTNNB1):c.100G>A (p.Gly34Arg) SNV Likely pathogenic 376232 rs121913399 GRCh37: 3:41266103-41266103
GRCh38: 3:41224612-41224612
4 ERCC2 NM_000400.3(ERCC2):c.1361_1363TCA[2] (p.Ile456del) Microsatellite Likely pathogenic 620626 rs750123656 GRCh37: 19:45860740-45860742
GRCh38: 19:45357482-45357484
5 CTNNB1 NM_001904.4(CTNNB1):c.101G>T (p.Gly34Val) SNV Likely pathogenic 17582 rs28931589 GRCh37: 3:41266104-41266104
GRCh38: 3:41224613-41224613
6 CTNNB1 NM_001904.4(CTNNB1):c.100G>C (p.Gly34Arg) SNV Likely pathogenic 376233 rs121913399 GRCh37: 3:41266103-41266103
GRCh38: 3:41224612-41224612
7 PHOX2B NM_003924.3(PHOX2B):c.556G>A (p.Glu186Lys) SNV Uncertain significance 620600 rs1560465720 GRCh37: 4:41748213-41748213
GRCh38: 4:41746196-41746196
8 SUFU NM_016169.3(SUFU):c.839G>A (p.Arg280Gln) SNV Uncertain significance 241089 rs145704867 GRCh37: 10:104356979-104356979
GRCh38: 10:102597222-102597222
9 BRCA1 NM_007294.4(BRCA1):c.5123C>T (p.Ala1708Val) SNV Uncertain significance 37640 rs28897696 GRCh37: 17:41215920-41215920
GRCh38: 17:43063903-43063903
10 TSC2 NM_000548.5(TSC2):c.3846_3855delinsG (p.Ser1282_Gly1285delinsArg) Indel Uncertain significance 135377 rs587778732 GRCh37: 16:2132468-2132477
GRCh38: 16:2082467-2082476
11 TSC1 NM_000368.4(TSC1):c.1355G>C (p.Gly452Ala) SNV Uncertain significance 411263 rs371093730 GRCh37: 9:135782201-135782201
GRCh38: 9:132906814-132906814
12 BMPR1A NM_004329.2(BMPR1A):c.499A>T (p.Met167Leu) SNV Uncertain significance 187206 rs200951235 GRCh37: 10:88659852-88659852
GRCh38: 10:86900095-86900095
13 PTCH1 NM_000264.5(PTCH1):c.113G>A (p.Gly38Glu) SNV Uncertain significance 216367 rs143494325 GRCh37: 9:98270531-98270531
GRCh38: 9:95508249-95508249
14 PTCH1 NM_000264.5(PTCH1):c.203G>A (p.Gly68Glu) SNV Uncertain significance 620601 rs757430199 GRCh37: 9:98268880-98268880
GRCh38: 9:95506598-95506598
15 TSC1 NM_000368.4(TSC1):c.1231C>A (p.Leu411Ile) SNV Uncertain significance 64790 rs397514840 GRCh37: 9:135785990-135785990
GRCh38: 9:132910603-132910603
16 TSC2 NM_000548.5(TSC2):c.3038A>G (p.Asp1013Gly) SNV Uncertain significance 406089 rs1060500961 GRCh37: 16:2129104-2129104
GRCh38: 16:2079103-2079103
17 TSC2 NM_000548.5(TSC2):c.3803G>A (p.Arg1268His) SNV Uncertain significance 65034 rs200577441 GRCh37: 16:2131788-2131788
GRCh38: 16:2081787-2081787
18 SMARCA4 NM_001128849.2(SMARCA4):c.442G>A (p.Gly148Arg) SNV Uncertain significance 220638 rs138689221 GRCh37: 19:11096951-11096951
GRCh38: 19:10986275-10986275
19 NF1 NM_000267.3(NF1):c.4773G>A (p.Arg1591=) SNV Uncertain significance 457720 rs1555533268 GRCh37: 17:29652838-29652838
GRCh38: 17:31325820-31325820
Sources

Expression for Craniopharyngioma

About this section
Search GEO for disease gene expression data for Craniopharyngioma.
Sources

Pathways for Craniopharyngioma

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Pathways related to Craniopharyngioma according to GeneCards Suite gene sharing:

(show all 23)
# Super pathways Score Top Affiliating Genes
1
Nanog in Mammalian ESC Pluripotency 63
Show member pathways
 13.16 LEF1 IGF1 GNRH1 GH1 CTNNB1 BRAF
2
PI3K-Akt signaling pathway 36
Show member pathways
 12.85 PRL INS IGF1 GH1 CTNNB1 APC
3
Gastric cancer 36
Show member pathways
 12.66 LEF1 IGF1 CTNNB1 BRAF APC
4
Pathways in cancer 36
12.66 PTCH1 LEF1 IGF1 CTNNB1 BRAF APC
5
Endometrial cancer 36
Show member pathways
 12.6 LEF1 INS IGF1 CTNNB1 BRAF APC
6
Proteoglycans in cancer 36
12.19 PTCH1 IGF1 CTNNB1 BRAF
7
G-protein signaling RAC1 in cellular process 23
Show member pathways
 12.18 IGF1 GNRH1 GH1 CTNNB1 BRAF APC
8
Wnt / Hedgehog / Notch 4
12.12 PTCH1 LEF1 CTNNB1 APC
9
Translation Non-genomic (rapid) action of Androgen Receptor 23
Show member pathways
 12.04 PTCH1 LEF1 IGF1 CTNNB1 APC
10
Colorectal Cancer Metastasis 63
12.03 LEF1 CTNNB1 BRAF APC
11
Adipogenesis 1
11.9 INS IGF1 GH1 CTNNB1
12
Peptide hormone metabolism 65
Show member pathways
 11.81 INS IGF1 GHRL GH1 CTNNB1
13
Corticotropin-releasing hormone signaling pathway 1
11.76 KRT14 CTNNB1 BRAF
14
Glucocorticoid receptor regulatory network 1
11.69 PRL POU1F1 KRT14
15
Regulation of Wnt-mediated beta catenin signaling and target gene transcription 1
11.67 LEF1 CTNNB1 APC
16
Endochondral Ossification 1
11.57 PTCH1 IGF1 GH1
17
Wnt Signaling Pathway Netpath 1
11.45 LEF1 CTNNB1 APC
18
Signaling events mediated by PTP1B 1
11.4 PRL LEPR INS
19
Glioblastoma Multiforme 63
11.4 LEF1 IGF1 CTNNB1 BRAF APC
20
Deactivation of the beta-catenin transactivating complex 65
11.3 LEF1 CTNNB1 APC
21
Wnt/beta-catenin Signaling Pathway in Leukemia 1
10.92 LEF1 CTNNB1 APC
22
Regulation of Wnt/B-catenin Signaling by Small Molecule Compounds 1
10.69 LEF1 CTNNB1 APC
23
Antipsychotics Pathway (Metabolic Side Effects), Pharmacodynamics 60
10.23 PRL LEPR INS GHRL
Sources

GO Terms for Craniopharyngioma

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Cellular components related to Craniopharyngioma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 beta-catenin-TCF complex GO:1990907 9.32 LEF1 CTNNB1
2 beta-catenin destruction complex GO:0030877 9.26 CTNNB1 APC
3 Wnt signalosome GO:1990909 9.16 CTNNB1 APC
4 cell periphery GO:0071944 9.13 KRT8 KRT14 CTNNB1
5 endosome lumen GO:0031904 8.8 PRL INS GH1

Biological processes related to Craniopharyngioma according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.97 PRL LEF1 INS IGF1 CTNNB1
2 positive regulation of gene expression GO:0010628 9.91 LEF1 INS IGF1 CTNNB1 BRAF
3 negative regulation of cell proliferation GO:0008285 9.88 PTCH1 POU1F1 GNRH1 CTNNB1 APC
4 positive regulation of cell migration GO:0030335 9.83 LEF1 INS IGF1 APC
5 positive regulation of cold-induced thermogenesis GO:0120162 9.76 LEPR GHRL APC
6 regulation of cell proliferation GO:0042127 9.76 PTCH1 GHRL CTNNB1 BRAF
7 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.73 INS IGF1 GH1
8 response to nutrient levels GO:0031667 9.67 PRL GHRL GH1
9 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.58 PRL GH1
10 positive regulation of growth GO:0045927 9.55 GHRL GH1
11 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.54 IGF1 GH1
12 negative regulation of feeding behavior GO:2000252 9.43 TRH INS
13 negative regulation of apoptotic process GO:0043066 9.43 LEF1 IGF1 GNRH1 GHRL CTNNB1 BRAF
14 alpha-beta T cell differentiation GO:0046632 9.4 LEF1 BRAF
15 hair cycle process GO:0022405 9.37 ERCC2 CTNNB1
16 embryonic organ development GO:0048568 9.33 PTCH1 ERCC2 CTNNB1
17 positive regulation of glucose transmembrane transport GO:0010828 9.32 GH1 BRAF
18 hair cell differentiation GO:0035315 9.26 ERCC2 CTNNB1
19 mammary gland development GO:0030879 8.8 PTCH1 PRL LEF1

Molecular functions related to Craniopharyngioma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.23 TRH PTCH1 PROP1 PRL POU1F1 MCM6
2 beta-catenin binding GO:0008013 9.33 LEF1 CTNNB1 APC
3 gamma-catenin binding GO:0045295 9.32 LEF1 APC
4 hormone activity GO:0005179 9.17 TRH PRL INS IGF1 GNRH1 GHRL
5 prolactin receptor binding GO:0005148 8.96 PRL GH1
Sources

Sources for Craniopharyngioma

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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