Vitamin D-dependent rickets, type 2B
MONDO:0010931Rickets caused by a post-receptor defect in the vitamin D signaling pathway producing vitamin D resistance due to constitutive overexpression of a nuclear ribonucleoprotein that competes with the vitamin D receptor-retinoid X receptor dimer binding with DNA vitamin D response elements. This condition has a similar phenotype to vitamin D receptor deficiency rickets including elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations.
Also known as: hereditary 1,25 dihydroxyvitamin D-resistant rickets with abnormal vitamin D receptor without alopecia, vitamin D dependent rickets 2b, vitamin D receptor signaling defect rickets, vitamin D receptor signalling defect rickets, vitamin D resistant rickets, vitamin D-dependent rickets type II without alopecia, VDDR2B, vitamin D-dependent rickets, type 2B, with normal vitamin D receptor
11 clinical trials for this condition and its sub-types, 0 tagged with Vitamin D-dependent rickets, type 2B itself.
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New scoring system aims to cut child deaths from malnutrition in chad
Disease control CompletedThis study tested a simple scoring system called RISQ to help healthcare workers quickly identify which severely malnourished children are most at risk of dying. Over 14,600 children aged 6 to 59 months in Chad took part. The goal was to see if using the RISQ system could lower d…
Sponsor: The Hospital for Sick Children • Aim: Disease control
Last updated Jun 27, 2026 13:00 UTC
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Can cookies fight malnutrition? new study tests a tasty solution
Disease control CompletedThis study tested whether special cookies made from soy, chickpea, and peanut flour could improve the health of malnourished children. Sixty children aged 3 to 10 years were split into two groups: one group ate the cookies daily for three months along with their regular diet, whi…
Sponsor: Mairaj Noor • Aim: Disease control
Last updated Jun 27, 2026 12:02 UTC
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Searching for biomarkers to combat malnutrition
Knowledge-focused CompletedThis study aims to identify biological markers of malnutrition by analyzing blood, saliva, and stool samples from 2,000 people, including those with malnutrition and healthy controls. Researchers will use advanced techniques to examine genetic, microbial, and metabolic profiles. …
Sponsor: Federico II University • Aim: Knowledge-focused
Last updated Sep 03, 2026 00:00 UTC
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Hidden gut infections may sabotage TB recovery, study suggests
Knowledge-focused CompletedThis completed study looked at 141 people being treated for tuberculosis (TB) to see if intestinal parasites or poor nutrition made their recovery harder. Researchers checked stool samples for parasites and measured weight gain and treatment success. Some participants received nu…
Sponsor: Boston Medical Center • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:56 UTC