Vitamin D hydroxylation-deficient rickets, type 1B
MONDO:0010810An autosomal recessive form of rickets caused by inactivating mutation(s) in the CYP2R1 gene, encoding vitamin D 25-hydroxylase, the hepatic enzyme that converts vitamin D to 25-hydroxyvitamin D, the precursor of 1,25-dihydroxyvitamin D (calcitriol). The condition is characterized by reduced serum concentrations of 25-hydroxyvitamin D, hypophosphatemia, hypocalcemia with secondary hyperparathyroidism and elevated serum alkaline phosphatase, and by failure to thrive, seizures, muscle weakness, and rickets.
Also known as: CYP2R1 vitamin D-dependent rickets, type 1, Vitam D hydroxylation-deficient rickets type 1b, rickets due to defect in vitamin D 25-hydroxylation deficiency, vitamin D 25-Hydroxylase deficiency, vitamin D hydroxylation-deficient rickets type 1b, vitamin D hydroxylation-deficient rickets, type 1B, vitamin D-dependent rickets, type 1 caused by mutation in CYP2R1, 25-Hydroxyvitamin D3 deficiency, selective
14 clinical trials for this condition and its sub-types, 3 tagged with Vitamin D hydroxylation-deficient rickets, type 1B itself.
Follow this condition to get notified about new trialsWhere it sits in the disease tree
Browse by category →-
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
-
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
-
Vitamin d pills tested as muscle saver for seniors with obesity
Symptom relief CompletedThis study tested whether taking a high dose of vitamin D3 daily for 12 weeks could improve muscle strength and mass in older adults with obesity. Researchers enrolled 29 participants aged 60 and older in southern Mexico. They measured handgrip strength, muscle mass, and physical…
Sponsor: Universidad Autónoma Benito Juárez de Oaxaca • Aim: Symptom relief
Last updated Jun 27, 2026 08:03 UTC
-
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
-
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