Each column keeps its native condition scope. Initial features are displayed alphabetically, not ranked by clinical importance. Counts remain separate, and an empty cell does not mean a feature cannot occur.
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The diabetes in MIDD is characterized by high blood sugar (glucose) levels, known as hyperglycemia. This results from a shortage of the hormone insulin, which regulates the amount of glucose in the blood. In MIDD, the diabetes and hearing loss usually develop in mid-adulthood, although the age that they occur varies from childhood to late adulthood. Typically, hearing loss occurs before diabetes.","mondoId":"MONDO:0010785","records":[{"frequencyKind":"reported","key":"182bb19816281a292c044c6cdae6c5362f99f3a01620145468d51cd2f9015fb0","raw":{"aspect":"P","body_system":"endocrine","disease_id":"OMIM:520000","disease_name":"Diabetes and deafness, maternally inherited","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0005978","is_excluded":false,"label":"Type II diabetes mellitus","onset_id":null,"reference":"OMIM:520000","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"1d7d1ce7ffe17c53ca19d588237977de879d177a1785cc171fb3d23c5c94c53f","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:520000","disease_name":"Diabetes and deafness, maternally 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impairment","onset_id":null,"reference":"OMIM:520000","source_release":"2026-06-23"},"sourceGroups":["omim"]}],"referenceLabels":{},"references":{"causeHtml":"","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"Mutations in the MT-TL1, MT-TK, or MT-TE gene cause MIDD. These genes are found in mitochondrial DNA, which is part of cellular structures called mitochondria. Although most DNA is packaged in chromosomes within the cell nucleus, mitochondria also have a small amount of their own DNA (known as mitochondrial DNA or mtDNA).
The MT-TL1, MT-TK, and MT-TE genes provide instructions for making molecules called transfer RNAs (tRNAs), which are chemical cousins of DNA. These molecules help assemble protein building blocks (amino acids) into functioning proteins. The MT-TL1 gene provides instructions for making a specific form of tRNA that is designated as tRNALeu(UUR). During protein assembly, this molecule attaches to the amino acid leucine (Leu) and inserts it into the appropriate locations in the growing protein. Similarly, the protein produced from the MT-TK gene, called tRNALys, attaches to the amino acid lysine (Lys) and inserts it into proteins being assembled. Also, the protein produced from the MT-TE gene, called tRNAGlu, attaches to the amino acid glutamic acid (Glu) and adds it to growing proteins.
These tRNA molecules are present only in mitochondria, and they help assemble proteins that are involved in producing energy for cells. In certain cells in the pancreas called beta cells, mitochondria also play a role in controlling the amount of glucose in the bloodstream. In response to high glucose levels, mitochondria help trigger the release of insulin, which stimulates cells to take up glucose from the blood.
Mutations in the MT-TL1, MT-TK, or MT-TE gene reduce the ability of tRNA to add amino acids to growing proteins, which slows protein production in mitochondria and impairs their functioning. Researchers believe that the disruption of mitochondrial function lessens the ability of mitochondria to help trigger insulin release. In people with this condition, diabetes results when the beta cells do not produce enough insulin to regulate blood glucose effectively. Researchers have not determined how the mutations lead to hearing loss or the other features of MIDD.
","key":"forms","title":"What causes Maternally inherited diabetes and deafness?"},{"bodyHtml":"Some people with MIDD develop an eye disorder called macular retinal dystrophy, which is characterized by colored patches in the light-sensitive tissue that lines the back of the eye (the retina). This disorder does not usually cause vision problems in people with MIDD. Individuals with MIDD also may experience muscle cramps or weakness, particularly during exercise; heart problems; kidney disease; and constipation. Individuals with MIDD are often shorter than their peers.
Source: MedlinePlus Genetics
","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"maternally-inherited-diabetes-and-deafness","sourceDocuments":[{"name":"Maternally inherited diabetes and deafness","reviewed":"2012-10","sections":{"causes":{"fetchedAt":"2026-10-20T20:23:07.520034+00:00","label":"Causes","pageSha256":"a5b6a75e8a7300a8acb850d6c5d8d4742c2451cceee58b8459257ef5562a304e","sourceUrl":"https://medlineplus.gov/genetics/condition/maternally-inherited-diabetes-and-deafness/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/maternally-inherited-diabetes-and-deafness"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Maternally inherited diabetes and deafness"},"schemaVersion":1}