Type 1B Vitamin D Hydroxylation-Deficient Rickets

mutation in CYP2R1

Also Known As:

Vitamin D Hydroxylation-Deficient Rickets, Type 1B; 25-Hydroxyvitamin D3 Deficiency, Selective; Pseudovitamin D3 Deficiency Rickets Due To 25-Hydroxylase Deficiency; VDDR1B; Vitamin D-Dependent Rickets, Type 1B

Networked: 3 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Musculoskeletal Diseases: 719
- Bone Diseases: 5863
  - Metabolic Bone Diseases: 6245
    - Rickets: 3211
      - Hypophosphatemic Rickets: 500
        Familial Hypophosphatemic Rickets: 664
        Type 1B Vitamin D Hydroxylation-Deficient Rickets: 3
Urogenital Diseases: 126
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Metal Metabolism
      - Familial Hypophosphatemia: 721
        Familial Hypophosphatemic Rickets: 664
        Type 1B Vitamin D Hydroxylation-Deficient Rickets: 3
  - Inborn Errors Renal Tubular Transport
    - Familial Hypophosphatemia: 721
      - Familial Hypophosphatemic Rickets: 664
        Type 1B Vitamin D Hydroxylation-Deficient Rickets: 3
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
- Nutrition Disorders: 404
  - Malnutrition: 20403
    - Deficiency Diseases: 514
      - Avitaminosis: 1294
        Vitamin D Deficiency: 8674
        Rickets: 3211
        Hypophosphatemic Rickets: 500
        Familial Hypophosphatemic Rickets: 664
        Type 1B Vitamin D Hydroxylation-Deficient Rickets: 3

Related Diseases

1.	Type 1B Vitamin D Hydroxylation-Deficient Rickets
2.	Inborn Genetic Diseases (Disease, Hereditary)
3.	Rickets (Rachitis)
4.	With Normal Vitamin D Receptor Type 2B Vitamin D-Dependent Rickets
5.	Type 2A Vitamin D-Dependent Rickets

Experts

1.	Molin, Arnaud: 2 articles (01/2020 - 09/2017)
2.	Weryha, Georges: 2 articles (01/2020 - 09/2017)
3.	Wiedemann, Arnaud: 2 articles (01/2020 - 09/2017)
4.	Feillet, François: 1 article (01/2020)
5.	Guéant, Jean-Louis: 1 article (01/2020)
6.	Oussalah, Abderrahim: 1 article (01/2020)
7.	Renard, Emeline: 1 article (01/2020)
8.	Acar, Sezer: 1 article (12/2017)
9.	Demir, Korcan: 1 article (12/2017)
10.	Shi, Yufei: 1 article (12/2017)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Type 1B Vitamin D Hydroxylation-Deficient Rickets:

1.	Vitamin D FDA LinkGeneric 01/01/2020 - "VDDR1B is a severe form of rickets that occurs during infancy and which is responsive to 25-OH vitamin D supplementation. " 12/30/2017 - "The first group consists of genetic disorders of vitamin D biosynthesis and action, such as vitamin D-dependent rickets type 1A (VDDR1A), vitamin D-dependent rickets type 1B (VDDR1B), vitamin D-dependent rickets type 2A (VDDR2A), and vitamin D-dependent rickets type 2B (VDDR2B). " 01/01/2020 - "Vitamin D-dependent rickets type 1B (VDDR1B) is an autosomal semidominant genetic disorder caused by a deficiency in CYP2R1, which encodes vitamin D 25-hydroxylase, an enzyme that plays a crucial role in the conversion of vitamin D to 25-dihydroxyvitamin D3. "
2.	Mixed Function Oxygenases (Monooxygenases)IBA 09/01/2017 - "Vitamin D-Dependent Rickets Type 1B (25-Hydroxylase Deficiency): A Rare Condition or a Misdiagnosed Condition?"
3.	EnzymesIBA 01/01/2020 - "Vitamin D-dependent rickets type 1B (VDDR1B) is an autosomal semidominant genetic disorder caused by a deficiency in CYP2R1, which encodes vitamin D 25-hydroxylase, an enzyme that plays a crucial role in the conversion of vitamin D to 25-dihydroxyvitamin D3. "