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Disease Profile
Diencephalic syndrome
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.
Unknown
Age of onset
Adolescent
ICD-10
C72.8
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)
Diencephalic cachexia; Diencephalic syndrome of childhood; Diencephalic syndrome of emaciation;
Categories
Endocrine Diseases
Summary
Diencephalic
Symptoms
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
|
---|---|---|
80%-99% of people have these symptoms | ||
Abnormality of the hypothalamus-pituitary axis | 0000864 | |
Behavioral abnormality |
Behavioral changes
Behavioral disorders
Behavioral disturbances
Behavioral problems
Behavioral/psychiatric abnormalities
Behavioural/Psychiatric abnormality
Psychiatric disorders
Psychiatric disturbances
[ more ] |
0000708 |
Cachexia |
Wasting syndrome
|
0004326 |
Tumor of the nervous system
|
0004375 | |
30%-79% of people have these symptoms | ||
Abnormality of movement |
Movement disorder
Unusual movement
[ more ] |
0100022 |
Everted lower lip vermilion |
Drooping lower lip
Outward turned lower lip
[ more ] |
0000232 |
Too much cerebrospinal fluid in the brain
|
0000238 | |
Hyperhidrosis |
Excessive sweating
Increased sweating
Profuse sweating
Sweating
Sweating profusely
Sweating, increased
[ more ] |
0000975 |
Long penis |
Enlarged penis
|
0000040 |
Macrotia |
Large ears
|
0000400 |
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
5%-29% of people have these symptoms | ||
Large hands |
large hand
|
0001176 |
Optic atrophy | 0000648 |
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 gastrointestinal disorders that lead to severe weight loss such celiac disease.
Visit the Orphanet disease page for more information.
|
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
-
A Kids’ Brain Tumor Cure Foundation (PLGA Foundation)
98 Random Farms Drive
Chappaqua, NY 10514
E-mail: contact@akidsbraintumorcure.org
Website: https://akidsbraintumorcure.org -
American Brain Tumor Association
8550 W. Bryn Mawr Ave, Ste 550
Chicago, IL 60631
Toll-free: 1-800-886-2282
Telephone: +1-773-577-8750
Fax: +1-773-577-8738
E-mail: info@abta.org
Website: https://www.abta.org/ -
Children's Brain Tumor Foundation
274 Madison Avenue, Suite 1004
New York, NY 10016
Toll-free: 1-866-228-4673
E-mail: info@cbtf.org
Website: https://www.cbtf.org -
Pediatric Brain Foundation
2144 E. Republic Rd.
Building B, Suite 202
Springfield, MO 65804
Telephone: 417-887-4242
E-mail: info@pediatricbrainfoundation.org
Website: https://www.pediatricbrainfoundation.org/
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
- A Kids’ Brain Tumor Cure Foundation provides information and resources for different conditions associated with brain tumors, including Diencephalic syndrome
- The National Cancer Institute provides information on the treatment of Childhood Astrocytomas
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
In-Depth Information
- 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.
References
- Paker RJ, Gilbert D, Gilbert J. Diencephalic Syndrome. National Organization for Rare Disorders (NORD). 2016; https://rarediseases.org/rare-diseases/diencephalic-syndrome/.
- Kim A, Moon JS, Yang HR, Chang JY, Ko JS, Seo JK. Diencephalic syndrome: a frequently neglected cause of failure to thrive in infants. Korean Journal of Pediatrics. January 2015; v.58(1):28-32. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4342778/.
- Cohen L. Diencephalic syndrome. Orphanet. October 2015; https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=470&Disease_Disease_Search_diseaseGroup=Diencephalic-syndrome&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group%20of%20diseases=Diencephalic-syndrome&title=Diencephalic-syndrome&search=Disease_Search_Simple.
- Diencephalic Syndrome. A Kids' Brain Tumor Cure PLGA Foundation. https://akidsbraintumorcure.org/childhood-brain-tumors/brain-tumor-treatment-options/complications/diencephalic-syndrome/. Accessed 4/27/2017.
- Kilday JP, Bartels U, Huang A, et al. Favorable survival and metabolic outcome for children with diencephalic syndrome using a radiation-sparing approach. J Neurooncol. January 2014; 116(1):195-204. https://www.ncbi.nlm.nih.gov/pubmed/24218181.