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Disease Profile
Craniopharyngioma
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 100 000
Age of onset
All ages
ICD-10
D44.4
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Rathke's pouch tumor; Craniopharyngeal duct tumor; Adamantinoma;
Categories
Congenital and Genetic Diseases; Endocrine Diseases; Nervous System Diseases;
Summary
Craniopharyngioma is a slow-growing, non-cancerous brain
Symptoms
- Increased pressure on the brain may cause
hydrocephalus , headache, nausea, vomiting (especially in the morning), and difficulty with balance.
- Damage to the pituitary gland may cause
hormone imbalances that can lead to many signs and symptoms such as:
- deficiency of growth hormone, gonadotropin, thyroid stimulating hormone, and/or adrenocorticotropic hormone
- excessive thirst and urination (diabetes insipidus)
- sleep disturbances
- delayed puberty and stunted growth
- weight gain or obesity, fatigue, cold intolerance, constipation, decreased mental function, behavioral symptoms (hypothyroidism symptoms)
- adrenal failure symptoms (heart arrhythmias, confusion, lethargy, orthostatic hypotension,
low blood sugar ) - changes in personality or mood (such as feeling depressed or having anxiety)
Symptoms are often permanent, and may be worse after surgery to remove the tumor.[1] People with craniopharyngioma often have impaired psychosocial health in addition to physical health, both of which contribute to reduced quality of life.[7]
About 80% of adults with this tumor complain of decreased sexual drive, and almost 90% of men complain of
Because craniopharyngioma typically is a slow-growing tumor, symptoms frequently develop very slowly. The time interval between the onset of symptoms and diagnosis usually ranges from 1-2 years.[4]
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
100% of people have these symptoms | ||
Abnormal hypothalamus morphology |
Abnormal shape of hypothalamus
|
0012286 |
80%-99% of people have these symptoms | ||
Cerebral calcification |
Abnormal deposits of calcium in the brain
|
0002514 |
Enlarged pituitary gland | 0012505 | |
Intracranial cystic lesion | 0010576 | |
Neoplasm of the anterior pituitary | 0011750 | |
30%-79% of people have these symptoms | ||
Abnormal visual field test | 0030588 | |
Bitemporal hemianopia | 0030521 | |
Central adrenal insufficiency | 0011734 | |
Central diabetes insipidus | 0000863 | |
Excessive daytime somnolence |
Excessive daytime sleepiness
More than typical sleepiness during day
[ more ] |
0001262 |
Headache |
Headaches
|
0002315 |
Hypogonadotropic |
0000044 | |
Increased circulating prolactin concentration | 0000870 | |
Nausea and vomiting | 0002017 | |
Obesity |
Having too much body fat
|
0001513 |
Papilledema | 0001085 | |
Pituitary hypothyroidism |
Low thyroid gland function due to abnormal pituitary gland
|
0008245 |
Progressive visual field defects | 0007987 | |
Slow decrease in visual acuity |
Slow decrease in sharpness of vision
|
0007924 |
5%-29% of people have these symptoms | ||
Cerebral ischemia |
Disruption of blood oxygen supply to brain
|
0002637 |
Delayed puberty |
Delayed pubertal development
Delayed pubertal growth
Pubertal delay
[ more ] |
0000823 |
Hearing impairment |
Deafness
Hearing defect
[ more ] |
0000365 |
Hydrocephalus |
Too much cerebrospinal fluid in the brain
|
0000238 |
Increased intracranial pressure |
Rise in pressure inside skull
|
0002516 |
Increased |
Abnormal susceptibility to fractures
Bone fragility
Frequent broken bones
Increased bone fragility
Increased tendency to fractures
[ more ] |
0002659 |
Optic atrophy | 0000648 | |
Polyphagia |
Voracious appetite
|
0002591 |
Proportionate |
0003508 | |
Sleep apnea |
Pauses in breathing while sleeping
|
0010535 |
Type II |
Noninsulin-dependent diabetes
Type 2 diabetes
Type II diabetes
[ more ] |
0005978 |
1%-4% of people have these symptoms | ||
Abnormality of the frontal bone |
Abnormality of the bone of the forehead
|
0430000 |
Abnormality of the nasal bone | 0010939 | |
Coma | 0001259 | |
Global |
0001263 | |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Myocardial infarction |
Heart attack
|
0001658 |
Postnatal growth retardation |
Growth delay as children
|
0008897 |
Recurrent infections |
Frequent infections
Frequent, severe infections
Increased frequency of infection
infections, recurrent
Predisposition to infections
Susceptibility to infection
[ more ] |
0002719 |
0001250 | ||
Sudden loss of visual acuity | 0001117 | |
Vertigo |
Dizzy spell
|
0002321 |
Cause
Treatment
An experienced multidisciplinary team of specialists (neurosurgeon, radiation oncologist, neuro
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
|
---|
The differential diagnosis includes other tumours occurring in this region (pituitary adenomas), infectious or inflammatory processes (eosinophilic granulomas), vascular malformations (aneurysms) and congenital anomalies (Rathke's cleft cysts).
Visit the Orphanet disease page for more information.
|
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Where to Start
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- The National Cancer Institute provides the most current information on cancer for patients, health professionals, and the general public.
In-Depth Information
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Craniopharyngioma. Click on the link to view a sample search on this topic.
References
- Craniopharyngioma. MedlinePlus. 7/30/2014; https://www.nlm.nih.gov/medlineplus/ency/article/000345.htm.
- General Information About Childhood Craniopharyngioma. National Cancer Institute (NCI). June 10, 2016; https://www.cancer.gov/types/brain/patient/child-cranio-treatment-pdq.
- Garnett MR, Puget S, Grill J & Sainte-Rose C. Craniopharyngioma. Orphanet. 2007; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=54595.
- George C Bobustuc, George I Jallo, Franco DeMonte, Gregory N Fuller, Morris D Groves, Lee S Hwang. Craniopharyngioma. Medscape. Oct 27, 2014; https://emedicine.medscape.com/article/1157758.
- Hsu EA, Miller JL, Perez FA, Roth CL. Oxytocin and Naltrexone Successfully Treat Hypothalamic Obesity in a Boy Post-Craniopharyngioma Resection. J Clin Endocrinol Metab. February 1, 2018; 103(2):370-375. https://www.ncbi.nlm.nih.gov/pubmed/29220529.
- Harsh GR, Recht LD & Marcus KJ. Craniopharyngioma. UpToDate. Waltham, MA: UpToDate; October, 2017; https://www.uptodate.com/contents/craniopharyngioma.
- Roemmler-Zehrer J, Geigenberger V, Störmann S. Specific behaviour, mood and personality traits may contribute to obesity in patients with craniopharyngioma. Clin Endocrinol (Oxf). January, 2015; 82(1):106-114. https://www.ncbi.nlm.nih.gov/pubmed/24923438.
- Craniopharyngioma. Pituitary Network Association. 2013; https://pituitary.org/knowledge-base/disorders/craniopharyngioma. Accessed 8/5/2016.
- Hoffmann A, Özyurt J, Lohle K, Reichel J, Thiel CM, Müller HL. First experiences with neuropsychological effects of oxytocin administration in childhood-onset craniopharyngioma.. Endocrine. April, 2017; 56(1):175-185. https://www.ncbi.nlm.nih.gov/pubmed/28213803.
- Daubenbüchel AM, Hoffmann A, Eveslage M, et al. Oxytocin in survivors of childhood-onset craniopharyngioma. Endocrine. November, 2016; 54(2):524-531. https://www.ncbi.nlm.nih.gov/pubmed/27585663.
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