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Disease Profile
Central diabetes insipidus
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
Childhood
ICD-10
E23.2
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)
Diabetes insipidus neurogenic; Neurohypophyseal diabetes insipidus; Pituitary diabetes insipidus;
Categories
Metabolic disorders
Summary
Central diabetes insipidus (DI) is a form of DI that occurs when the body has lower than normal levels of antidiuretic
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 | ||
Anorexia | 0002039 | |
Dehydration | 0001944 | |
Diabetes insipidus | 0000873 | |
Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 |
Nocturia | 0000017 | |
Polydipsia |
Extreme thirst
|
0001959 |
Weight loss | 0001824 | |
30%-79% of people have these symptoms | ||
Anxiety |
Excessive, persistent worry and fear
|
0000739 |
Depressivity |
Depression
|
0000716 |
Excessive daytime somnolence |
Excessive daytime sleepiness
More than typical sleepiness during day
[ more ] |
0001262 |
Fever | 0001945 | |
Headache |
Headaches
|
0002315 |
Lethargy | 0001254 | |
5%-29% of people have these symptoms | ||
Diarrhea |
Watery stool
|
0002014 |
Hyponatremia |
Low blood sodium levels
|
0002902 |
Nausea and vomiting | 0002017 | |
0001250 | ||
Percent of people who have these symptoms is not available through HPO | ||
Abnormality of metabolism/homeostasis |
Laboratory abnormality
Metabolism abnormality
[ more ] |
0001939 |
0000006 | ||
Gliosis | 0002171 | |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
Long philtrum | 0000343 | |
Osteopenia | 0000938 | |
Short nose |
Decreased length of nose
Shortened nose
[ more ] |
0003196 |
Wide nose |
Broad nose
Increased breadth of nose
Increased nasal breadth
Increased nasal width
Increased width of nose
[ more ] |
0000445 |
Treatment
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
Management Guidelines
- Orphanet Emergency Guidelines is an article which is expert-authored and peer-reviewed that is intended to guide health care professionals in emergency situations involving this condition.
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
|
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The main differential diagnosis is NDI as the disorders share the same manifestations. Recently, the dosage of aquaporin 2 (AQP2) has been used in the differential diagnosis of CDI as the failure to increase AQP2 excretion after desmopressin administration indicates a nephrogenic form of diabetes insipidus. Wolfram syndrome (see this term) is another differential diagnosis.
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 Merck Manuals Online Medical Library provides information on this condition for patients and caregivers.
- The National Digestive Diseases Information Clearinghouse (NIDDK) offers information on this condition. Click on the link to view information on this topic.
- 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
- 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.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- 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 Central diabetes insipidus. Click on the link to view a sample search on this topic.
References
- Diabetes insipidus central. MedlinePlus. 2015; https://medlineplus.gov/ency/article/000460.htm.
- Diabetes Insipidus. National Kidney and Urologic Diseases Information Clearinghouse. 2015; https://kidney.niddk.nih.gov/kudiseases/pubs/insipidus/.
- Bichet DG. Treatment of central diabetes insipidus. UpToDate. 216; https://www.uptodate.com/contents/treatment-of-central-diabetes-insipidus?source=search_result&search=central+diabetes+insipidus&selectedTitle=1~54.