Rare Medical News

Disease Profile

Transient 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.

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

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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)

TNDM1; TNDM; DMTN;

Categories

Congenital and Genetic Diseases; Endocrine Diseases; Metabolic disorders

Summary

Transient neonatal diabetes mellitus (TNDB) is a type of diabetes that appears within the first few weeks of life but is transient; affected infants go into remission within a few months, with possible relapse to permanent diabetes in adolescence or adulthood.[1] Affected individuals have slow growth before birth followed by hyperglycemia, dehydration and failure to thrive in infancy.[2] Approximately 70% of cases are caused by the overactivity of certain genes in a region of the long (q) arm of chromosome 6 called 6q24.[3][4] These cases are referred to as 6q24-related TNDB; most (but not all) of these cases are not inherited.[4] Other genetic causes include mutations in the KCNJ11 and ABCC8 genes, which usually cause permanent neonatal diabetes.[3] Treatment may include rehydration and intravenous insulin at the time of diagnosis, followed by subcutaneous insulin.[3]

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 hypotonia
Low or weak muscle tone
0001252
Neonatal onset
0003623
Neurodevelopmental delay
0012758
Seizure
0001250
1%-4% of people have these symptoms
Diabetic ketoacidosis
0001953
Type II diabetes mellitus
Noninsulin-dependent diabetes
Type 2 diabetes
Type II diabetes

[ more ]

0005978
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance
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

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

        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

          1. 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.
          2. Permanent neonatal diabetes mellitus. Genetics Home Reference. July 2011; https://ghr.nlm.nih.gov/condition/permanent-neonatal-diabetes-mellitus. Accessed 8/24/2012.
          3. 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.
          4. 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.