National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Permanent neonatal diabetes mellitus


Other Names:
PNDM; Permanent diabetes mellitus of infancy
Categories:
Permanent neonatal diabetes mellitus (PNDB) is a type of diabetes that appears within the first 6 months of life and persists throughout life. Affected individuals have slow growth before birth followed by hyperglycemia, dehydration and failure to thrive in infancy. Some individuals also have neurological problems including developmental delay and epilepsy; when these problems are present with PNDB, it is called DEND syndrome. A few individuals with PNDB also have an underdeveloped pancreas and may have digestive problems. PNDB is caused by mutations in any one of several genes (some of which have not yet been identified) including the KCNJ11, ABCC8, and INS genes. It may be inherited in an autosomal recessive or autosomal dominant manner.[1] Treatment includes rehydration, insulin therapy and/or long-term therapy with oral sulfonylureas (in some cases).[2]
Last updated: 8/24/2012

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.

Showing of 50 |
Medical Terms Other Names
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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 diabetes mellitus 0000857
Reduced pancreatic beta cells 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 ptosis
Drooping of both upper eyelids
0001488
Bilateral tonic-clonic seizure
Grand mal seizures
0002069
Contractures of the joints of the lower limbs 0005750
Downturned corners of mouth
Downturned corners of the mouth
Downturned mouth
[ more ] 		0002714
Generalized myoclonic seizure 0002123
Global developmental delay 0001263
Intrauterine growth retardation
Prenatal growth deficiency
Prenatal growth retardation
[ more ] 		0001511
Ketonuria 0002919
Microalbuminuria
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
Ataxia 0001251
Coma 0001259
Hearing impairment
Deafness
Hearing defect
[ more ] 		0000365
Intellectual disability, severe
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ] 		0010864
Muscular hypotonia
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
Percent of people who have these symptoms is not available through HPO
Abnormality of the ear 0000598
Abnormality of the immune system
Immunological abnormality
0002715
Anteverted nares
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ] 		0000463
Autosomal dominant inheritance 0000006
Autosomal recessive inheritance 0000007
Beta-cell dysfunction 0006279
Clinodactyly
Permanent curving of the finger
0030084
Diabetes mellitus 0000819
Hypsarrhythmia 0002521
Ketoacidosis 0001993
Limb joint contracture
Limb contractures
0003121
Long philtrum 0000343
Muscle weakness
Muscular weakness
0001324
Muscular hypotonia of the trunk
Low muscle tone in trunk
0008936
Peripheral neuropathy 0009830
Ptosis
Drooping upper eyelid
0000508
Radial deviation of finger 0009466
Seizure 0001250
Small for gestational age
Birth weight less than 10th percentile
Low birth weight
[ more ] 		0001518
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Last updated: 7/1/2020

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.
The outlook for individuals with neonatal diabetes mellitus (NDM) varies among affected individuals. Among affected infants, some have permanent diabetes, others have remission of their diabetes and later recurrence, and still others have apparently permanent remission. Since diabetes may recur in childhood or adulthood, it is often not possible to consider any remission permanent.[3] It has been estimated that neonatal diabetes mellitus will be transient in about 50 percent (half) of cases.[3]

In the neonatal period, the prognosis is generally related to the severity of the disease, the degree of dehydration and acidosis, as well how quickly the disease is diagnosed and treated. The presence of associated abnormalities may also affect an individual's prognosis. The long-term outlook often depends on the individual's metabolic control (as in all forms of diabetes mellitus), which affects the presence and severity of diabetes-related complications.[4] Furthermore, the prognosis may be better determined with knowledge of the underlying genetic cause of the disease.[5] With proper management, the overall prognosis for general health and normal intellectual development is usually good.[3]

Individuals seeking prognosis information for themselves or family members should speak with their health care professional.
Last updated: 8/28/2012

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

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.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Permanent neonatal diabetes mellitus. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

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

Organizations Providing General Support

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.
  • Genetics Home Reference (GHR) 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

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • My son was diagnosed with neonatal diabetes mellitus. He is 15 days old and we are not sure if this is permanent or transient. I want to know what the lifespan is of babies with this illness. Also how can we find out if this diabetes is transient or permanent? See answer


  1. Permanent neonatal diabetes mellitus. Genetics Home Reference. July 2011; http://ghr.nlm.nih.gov/condition/permanent-neonatal-diabetes-mellitus. Accessed 8/24/2012.
  2. Diva D De León and Charles A Stanley. Permanent Neonatal Diabetes Mellitus. GeneReviews. July 5, 2011; http://www.ncbi.nlm.nih.gov/books/NBK1447/. Accessed 8/24/2012.
  3. Karl Ernst von Mühlendah and Heiner Herkenhoff. Long-Term Course of Neonatal Diabetes. N Engl J Med. September 14, 1995; 333:704-708.
  4. Michel Polak and Hélène Cavé. Orphanet Journal of Rare Diseases. 2007; 2:12. http://www.ojrd.com/content/2/1/12/#sec8. Accessed 8/28/2012.
  5. Lydia Aguilar-Bryan and Joseph Bryan. Neonatal Diabetes Mellitus. Endocrine Reviews. May 2008; 29(3):265.