Rare Oncology News

Disease Profile

Permanent neonatal diabetes mellitus

Prevalence
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

331 - 2,979

US Estimated

1-9 / 1 000 000

514 - 4,622

Europe Estimated

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

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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Not applicable

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Other names (AKA)

PNDM; Permanent diabetes mellitus of infancy

Categories

Congenital and Genetic Diseases; Endocrine Diseases; Metabolic disorders

Summary

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 KCNJ11ABCC8, 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]

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 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 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
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
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
Autosomal recessive inheritance
0000007
Elevated hemoglobin A1c
0040217
Reduced Cpeptide level
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.

    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

      Organizations Providing General Support

        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

              References

              1. Permanent neonatal diabetes mellitus. Genetics Home Reference. July 2011; https://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; https://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. https://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.