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Disease Profile

Diabetes mellitus type 1

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.


US Estimated

Europe Estimated

Age of onset





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.


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.


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)

Diabetes mellitus, insulin dependent; Type 1 diabetes; Insulin-dependent diabetes mellitus;


Newborn Screening


Diabetes mellitus type 1 (DM1) is a condition in which cells in the pancreas (beta cells) stop producing insulin, causing abnormally high blood sugar levels. Lack of insulin results in the inability of the body to use glucose for energy and control the amount of sugar in the blood. DM1 can occur at any age, but usually develops by early adulthood, most often in adolescence. Symptoms of high blood sugar may include frequent urination, excessive thirst, fatigue, blurred vision, tingling or loss of feeling in the hands and feet, and weight loss. The exact cause of DM1 is unknown, but having certain "variants" of specific genes may increase a person's risk to develop the condition. A predisposition to develop DM1 runs in families, but no known inheritance pattern exists. Treatment includes blood sugar control and insulin replacement therapy. Improper control can cause recurrence of high blood sugar, or abnormally low blood sugar (hypoglycemia) during exercise or when eating is delayed. If not treated, the condition can be life-threatening. Over many years, chronic high blood sugar may be associated with a variety of complications that affect many parts of the body.[1]


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:
Percent of people who have these symptoms is not available through HPO
Autoimmune disease
Autoimmune disorder

[ more ]

Decreased level of 1,5 anhydroglucitol in serum
Diabetes mellitus
High blood sugar
Extreme thirst
Voracious appetite
Increased urine output


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

    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

    • The American College of Obstetricians and Gynecologists (ACOG) created a publication on birth defects. The pamphlet discusses ways in which a woman can decrease her chances of having a baby with a birth defect, including women who are pregnant and have diabetes. To read more about birth defects, visit the link below.
      Link: https://www.acog.org/publications/patient_education/bp146.cfm?printerFriendly=yes
    • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
    • Genetics Home Reference contains information on Diabetes mellitus type 1. This website is maintained by the National Library of Medicine.
    • The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers.
    • 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.

      In-Depth Information

      • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
      • 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. 
      • PubMed is a searchable database of medical literature and lists journal articles that discuss Diabetes mellitus type 1. Click on the link to view a sample search on this topic.


        1. Type 1 diabetes. Genetics Home Reference. March, 2013; https://ghr.nlm.nih.gov/condition/type-1-diabetes. Accessed 4/25/2014.
        2. Type 1 diabetes. Mayo Clinic. January 23, 2013; https://www.mayoclinic.org/diseases-conditions/type-1-diabetes/basics/risk-factors/con-20019573. Accessed 4/25/2014.

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