Rare Immunology News
Disease Profile
Transient neonatal diabetes mellitus
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
Antenatal
ICD-10
P70.2
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)
TNDM1; TNDM; DMTN;
Categories
Congenital and Genetic Diseases; Endocrine Diseases; Metabolic disorders
Summary
Transient neonatal
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 | ||
| Dehydration | 0001944 | |
| Hypoinsulinemia | 0040216 | |
| Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ] |
0001511 |
| Small for gestational age |
Birth weight less than 10th percentile
Low birth weight
[ more ] |
0001518 |
| 30%-79% of people have these symptoms | ||
| Macroglossia |
Abnormally large tongue
Increased size of tongue
Large tongue
[ more ] |
0000158 |
| Maturity-onset diabetes of the young | 0004904 | |
| Umbilical hernia | 0001537 | |
| 5%-29% of people have these symptoms | ||
| Abnormal heart morphology |
Abnormality of the heart
Abnormally shaped heart
Heart defect
[ more ] |
0001627 |
| Abnormality of limbs |
Abnormal limbs
|
0040064 |
| Abnormality of the kidney |
Abnormal kidney
|
0000077 |
| Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 |
| Hearing impairment |
Deafness
Hearing defect
[ more ] |
0000365 |
| Hypothyroidism |
Underactive thyroid
|
0000821 |
| Maternal diabetes |
gestational diabetes
|
0009800 |
| Muscular |
Low or weak muscle tone
|
0001252 |
| Neonatal onset | 0003623 | |
| Neurodevelopmental delay | 0012758 | |
| 0001250 | ||
| 1%-4% of people have these symptoms | ||
| Diabetic ketoacidosis | 0001953 | |
| Type II |
Noninsulin-dependent diabetes
Type 2 diabetes
Type II diabetes
[ more ] |
0005978 |
| Percent of people who have these symptoms is not available through HPO | ||
| 0000006 | ||
| Elevated hemoglobin A1c | 0040217 | |
| Hyperglycemia |
High blood sugar
|
0003074 |
| Severe failure to thrive |
Severe faltering weight
Severe weight faltering
[ more ] |
0001525 |
| Transient neonatal diabetes mellitus | 0008255 | |
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
|
|---|
|
Differential diagnoses include permanent NDM, DEND syndrome (epilepsy, hypotonia, and developmental delay in addition to diabetes mellitus), intermediate DEND, and Wolcott-Rallison syndrome (see these terms) as well as all other syndromic forms of neonatal diabetes mellitus.
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
-
International Diabetes Federation (IDF)
166 Chaussee de la Hulpe
B-1170 Brussels, Belgium
Belgium
Telephone: +32-2-5385511
Fax: +32-2-5385114
E-mail: [email protected]
Website: https://www.idf.org/ -
International Society for Pediatric and Adolescent Diabetes (ISPAD)
c/o KIT Kurfurstendamm 71
10709 Berlin
Germany
Telephone: 49 30 24603213
Fax: 49 30 24603200
E-mail: [email protected]
Organizations Providing General Support
-
American Diabetes Association
2451 Crystal Drive
Suite 900
Arlington, VA 22202
Toll-free: 1–800–DIABETES (342–2383)
Fax: 703–549–6995
E-mail: [email protected]
Website: https://www.diabetes.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
- Genetics Home Reference (GHR) contains information on Transient neonatal diabetes mellitus. This website is maintained by the National Library of Medicine.
- The National Kidney and Urologic Diseases Information Clearinghouse (NIDDK) conducts and supports research on a broad spectrum of diseases affecting public health. Click on the link to view information on this topic.
In-Depth Information
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- 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.
Transient neonatal diabetes mellitus 1
Transient neonatal diabetes mellitus 2
Transient neonatal diabetes mellitus 3 - 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 Transient neonatal diabetes mellitus. Click on the link to view a sample search on this topic.
References
- Michel Polak. Neonatal diabetes mellitus. Orphanet. March 2007; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=224. Accessed 8/24/2012.
- Permanent neonatal diabetes mellitus. Genetics Home Reference. July 2011; https://ghr.nlm.nih.gov/condition/permanent-neonatal-diabetes-mellitus. Accessed 8/24/2012.
- Isabel Karen Temple and Deborah JG Mackay. Diabetes Mellitus, 6q24-Related Transient Neonatal. GeneReviews. December 23, 2010; https://www.ncbi.nlm.nih.gov/books/NBK1534/. Accessed 8/24/2012.
- 6q24-related transient neonatal diabetes mellitus. Genetics Home Reference. February 2011; https://ghr.nlm.nih.gov/condition/6q24-related-transient-neonatal-diabetes-mellitus. Accessed 8/28/2012.