Rare Endocrinology News
Disease Profile
Permanent 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.
1-9 / 1 000 000
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)
PNDM; Permanent diabetes mellitus of infancy
Categories
Congenital and Genetic Diseases; Endocrine Diseases; Metabolic disorders
Summary
Permanent 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 | |
Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 |
Glycosuria |
Glucose in urine
|
0003076 |
Hyperglycemia |
High blood sugar
|
0003074 |
Hypovolemia |
Depleted blood volume
|
0011106 |
Neonatal insulin-dependent |
0000857 | |
Reduced pancreatic beta |
0006274 | |
Weight loss | 0001824 | |
30%-79% of people have these symptoms | ||
Abnormal heart morphology |
Abnormality of the heart
Abnormally shaped heart
Heart defect
[ more ] |
0001627 |
Arthrogryposis multiplex congenita | 0002804 | |
Bilateral |
Drooping of both upper eyelids
|
0001488 |
Bilateral tonic-clonic |
Grand mal seizures
|
0002069 |
0005750 | ||
Downturned corners of mouth |
Downturned corners of the mouth
Downturned mouth
[ more ] |
0002714 |
Generalized myoclonic seizure | 0002123 | |
Global |
0001263 | |
Intrauterine growth retardation |
Prenatal growth retardation
Prenatal growth deficiency
[ more ] |
0001511 |
Ketonuria | 0002919 | |
Moderate albuminuria |
High urine albumin levels
|
0012594 |
Motor delay | 0001270 | |
Prominent metopic ridge | 0005487 | |
Retinopathy |
Noninflammatory retina disease
|
0000488 |
5%-29% of people have these symptoms | ||
Apraxia | 0002186 | |
0001251 | ||
Coma | 0001259 | |
Hearing impairment |
Deafness
Hearing defect
[ more ] |
0000365 |
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ] |
0010864 | |
Muscular |
Low or weak muscle tone
|
0001252 |
Pancreatic hypoplasia |
Underdeveloped pancreas
|
0002594 |
Peripheral axonal neuropathy | 0003477 | |
Renal tubular dysfunction |
Abnormal function of filtrating structures in kidney
|
0000124 |
1%-4% of people have these symptoms | ||
Small for gestational age |
Birth weight less than 10th percentile
Low birth weight
[ more ] |
0001518 |
Type I diabetes mellitus |
Type 1 diabetes
Type I diabetes
[ more ] |
0100651 |
Percent of people who have these symptoms is not available through HPO | ||
0000007 | ||
Elevated hemoglobin A1c | 0040217 | |
Reduced C |
0030795 |
Diagnosis
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
Testing Resources
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
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 type 1 diabetes mellitus, transient neonatal diabetes mellitus (TNDM), IPEX syndrome, and Wolcott-Rallison syndrome (see these terms).
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
- DIABETESGENES.ORG provides information for patients and professionals on research and clinical care in genetic types of diabetes. Click on the link to learn more.
- MedlinePlus Genetics contains information on Permanent neonatal diabetes mellitus. This website is maintained by the National Library of Medicine.
- The National Diabetes Information Clearinghouse (NDIC) was established in 1978 to increase knowledge and understanding about diabetes among patients, health care professionals, and the general public. Click on the link to view information on this topic.
- 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.
- 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 Permanent neonatal diabetes mellitus. Click on the link to view a sample search on this topic.
Selected Full-Text Journal Articles
- Colombo C, Porzio O, Liu M, Massa O, Vasta M, Salardi S et al. Seven mutations in the human insulin gene linked to permanent neonatal/infancy-onset diabetes mellitus. J Clin Invest. 2008 Jun;118(6): 2148-56.
- Stoy J, Greeley SA, Paz VP, Pastore AN, Skowron KB, Lipton RB et al. Diagnosis and treatment of neonatal diabetes: a United States experience. Pediatr Diabetes. 2008 Oct; 9(5):450-9. Epub 2008 Jul 25.
References
- Permanent neonatal diabetes mellitus. Genetics Home Reference. July 2011; https://ghr.nlm.nih.gov/condition/permanent-neonatal-diabetes-mellitus. Accessed 8/24/2012.
- Diva D De León and Charles A Stanley. Permanent Neonatal Diabetes Mellitus. GeneReviews. July 5, 2011; https://www.ncbi.nlm.nih.gov/books/NBK1447/. Accessed 8/24/2012.
- Karl Ernst von Mühlendah and Heiner Herkenhoff. Long-Term Course of Neonatal Diabetes. N Engl J Med. September 14, 1995; 333:704-708.
- Michel Polak and Hélène Cavé. Orphanet Journal of Rare Diseases. 2007; 2:12. https://www.ojrd.com/content/2/1/12/#sec8. Accessed 8/28/2012.
- Lydia Aguilar-Bryan and Joseph Bryan. Neonatal Diabetes Mellitus. Endocrine Reviews. May 2008; 29(3):265.