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In people with these conditions, the process by which minerals are deposited into developing bones (mineralization) is disrupted. The long bones in the arms and legs are particularly affected. People with vitamin D-dependent rickets have problems using vitamin D, which helps maintain the proper levels of calcium and phosphate in the blood. These minerals are needed for the normal development of strong bones and teeth.","mondoId":"MONDO:0024299","records":[{"frequencyKind":"reported","key":"0396cf0e1a81ce2cb2c4a8987a6351cf717f56006dc17ad9791f0c1864c4a549","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:264700","disease_name":"Vitamin D hydroxylation-deficient rickets, type 1A","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002199","is_excluded":false,"label":"Hypocalcemic seizures","onset_id":null,"reference":"OMIM:264700","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"04abf31449bb952d1ce9c367251c0deb389acaab8e9d93c5f7c1a07c7eae4ccf","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:93160","disease_name":"Hypocalcemic vitamin D-resistant rickets","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002653","is_excluded":false,"label":"Bone 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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Genetic changes that cause disease are called pathogenic variants. Pathogenic variants in one of several different genes can cause vitamin D-dependent rickets. These genes provide instructions for making proteins that help the body use vitamin D. Vitamin D can be obtained from food or made in the skin after exposure to the sun or to light from certain other sources, such as tanning beds. This important vitamin helps maintain the proper balance of calcium and phosphate, which are needed for muscle function, nerve cell communication, and bone mineralization. Vitamin D must undergo two biochemical reactions in the body to become fully active. The fully active form of vitamin D is called calcitriol.</p><p>Pathogenic variants in the CYP27B1, CYP2R1 and VDR genes cause most cases of vitamin D-dependent rickets. The CYP27B1 and CYP2R1 genes provide instructions for making enzymes that help convert vitamin D to calcitriol. Calcitriol binds to vitamin D receptors, which are produced from the VDR gene and are present in most cells of the body. The resulting complex then binds to DNA and regulates the activity of the genes that are involved in maintaining the proper levels of calcium and phosphate in the blood. This is essential for the normal formation of bones and teeth. One of vitamin D&#x27;s major roles is to help regulate the absorption of calcium and phosphate from the intestines into the bloodstream.</p><p>Pathogenic variants in the CYP27B1 gene cause VDDR1A, while pathogenic variants in the CYP2R1 gene cause VDDR1B. These variants can reduce or eliminate enzyme activity, which impairs the conversion of vitamin D to calcitriol. When less calcitriol is available, genes involved in calcium regulation are not properly activated.</p><p>Pathogenic variants in the VDR gene cause VDDR2A. These variants lead to changes in the VDR protein that can prevent the receptor from properly interacting with calcitriol or DNA. As a result, the activity of genes involved in calcium regulation is impaired, even with normal amounts of calcitriol in the body.</p><p>In people with vitamin D-dependent rickets, the inability to properly regulate calcium also impairs the regulation of phosphate. As a result, the body does not obtain these minerals from food when needed, leading to low blood levels of calcium (hypocalcemia) and phosphate (hypophosphatemia). Hypocalcemia and hypophosphatemia disrupt the process of mineralization, especially in the long bones of the arms and legs. This leads to the soft, weak bones seen in people with vitamin D-dependent rickets. Hypocalcemia can also contribute to the muscle weakness and seizures seen in some affected individuals.</p><p>Pathogenic variants in other genes cause other types of vitamin D-dependent rickets.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/vitamin-d-dependent-rickets/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Vitamin D-dependent rickets?"},{"bodyHtml":"<p>There are several forms of vitamin D-dependent rickets: type 1A (VDDR1A), type 1B (VDDR1B), type 2A (VDDR2A), type 2B (VDDR2B), and type 3 (VDDR3). The types are distinguished by their genetic cause.</p><p>The signs and symptoms of vitamin D-dependent rickets often begin in infancy. Infants with vitamin D-dependent rickets may have weak muscle tone (hypotonia) and fail to grow or gain weight at the expected rate (failure to thrive). When affected children begin to walk, they may develop abnormally curved (bowed) legs because the bones are too weak to bear weight. The weakened bones are often painful and are prone to fractures. Bone growth is often delayed, and affected individuals may be shorter than their peers. Additional skeletal features include enlargement of the skull, the wrists, and the ends of the ribs.</p><p>Affected individuals may also have dental abnormalities, such as delayed tooth formation and thin tooth enamel. Some people with vitamin D-dependent rickets who have very low levels of calcium in the blood can have muscle cramps, tingling sensations (paresthesias), or seizures. Hair loss (alopecia) has been reported in some individuals with VDDR2A.</p><p>With early treatment, affected individuals may have less-severe skeletal signs and symptoms and fewer long-term health issues. Unlike with some other forms of rickets, vitamin D-dependent rickets cannot be treated with standard doses of vitamin D.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/vitamin-d-dependent-rickets\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"vitamin-d-dependent-rickets","sourceDocuments":[{"name":"Vitamin D-dependent rickets","reviewed":"2026-03","sections":{"causes":{"fetchedAt":"2026-10-20T20:25:42.523099+00:00","label":"Causes","pageSha256":"8320277f97d6b852b8cb6affc8ac68db16f7ef20567acdc98f911a0b8a189165","sourceUrl":"https://medlineplus.gov/genetics/condition/vitamin-d-dependent-rickets/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/vitamin-d-dependent-rickets"}],"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":"Vitamin D-dependent rickets"},"schemaVersion":1}