Type 2A Vitamin D-Dependent Rickets

mutation in vitamin D receptor

Also Known As:

Vitamin D-Dependent Rickets, Type 2A; Pseudovitamin D-Deficiency, Type IIA; Rickets-Alopecia Syndrome; VDDR2A

Networked: 5 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 2A Vitamin D-Dependent Rickets: 5
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 2A Vitamin D-Dependent Rickets: 5
  - Inborn Errors Renal Tubular Transport
    - Familial Hypophosphatemia: 721
      - Familial Hypophosphatemic Rickets: 664
        Type 2A Vitamin D-Dependent Rickets: 5
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 2A Vitamin D-Dependent Rickets: 5

Related Diseases

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

Experts

1.	Acar, Sezer: 2 articles (01/2020 - 12/2017)
2.	Demir, Korcan: 2 articles (01/2020 - 12/2017)
3.	Shi, Yufei: 2 articles (01/2020 - 12/2017)
4.	Al-Enezi, Anwar F: 1 article (01/2020)
5.	Al-Rijjal, Roua A: 1 article (01/2020)
6.	Alzahrani, Ali S: 1 article (01/2020)
7.	BinEssa, Huda: 1 article (01/2020)
8.	Durmaz, Erdem: 1 article (01/2020)
9.	Meyer, Brian F: 1 article (01/2020)
10.	Zou, Minjing: 1 article (01/2020)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Type 2A Vitamin D-Dependent Rickets:

1.	Vitamin D FDA LinkGeneric 01/01/2018 - "There are 4 forms described in literature that are distinguished by their genetic causes: type 1A (vitamin D-dependent rickets type IA), type 1B (vitamin D-dependent rickets type IB) and type 2A (vitamin D-dependent rickets type 2A), type 2B (vitamin D-dependent rickets type 2B). " 02/01/2019 - "The first group consists of genetic disorders of Vitamin D biosynthesis and action, such as Vitamin D-dependent rickets Type 1A, Type 1B, Type 2A (VDDR2A) and Type 2B. " 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). " 06/29/2017 - "The genetic diagnosis of VDDR2A promoted the discontinuation of active vitamin D treatment in favor of monotherapy with oral calcium supplementation. "
2.	Calcitriol Receptors (Calcitriol Receptor)IBA 01/01/2020 - "Objective: Vitamin D-dependent rickets type 2A (VDDR2A) is a rare autosomal recessive disorder caused by mutations in the vitamin D receptor gene (VDR), leading to end-organ resistance to 1,25-dihydroxyvitamin D3 (1,25[OH]2D3). " 02/01/2019 - "VDDR2A is a rare autosomal recessive disorder caused by mutation in the Vitamin D receptor gene, leading to end-organ resistance to 1,25(OH)2 Vitamin D3. " 06/29/2017 - "Vitamin D-dependent rickets type 2A (VDDR2A) is a rare inherited disorder with decreased tissue responsiveness to 1,25-dihydroxyvitamin D [1,25(OH)2D], caused by loss of function mutations in the vitamin D receptor (VDR) gene. " 01/01/2020 - "Abbreviations: 1,25(OH)2D3 = 1,25-dihydroxyvitamin D3 (calcitriol); 25OHD3 = 25-hydroxyvitamin D3; PCR = polymerase chain reaction; PTH = parathyroid hormone; VDDR2A = vitamin D-dependent rickets type 2A; VDR = vitamin D receptor."
3.	hydroxide ionIBA 06/29/2017 - "The degree of responsiveness to 1,25(OH)2D varies between patients with VDDR2A, which may depend on their residual VDR function. " 02/01/2019 - "VDDR2A is a rare autosomal recessive disorder caused by mutation in the Vitamin D receptor gene, leading to end-organ resistance to 1,25(OH)2 Vitamin D3. " 06/29/2017 - "Vitamin D-dependent rickets type 2A (VDDR2A) is a rare inherited disorder with decreased tissue responsiveness to 1,25-dihydroxyvitamin D [1,25(OH)2D], caused by loss of function mutations in the vitamin D receptor (VDR) gene. "
4.	Proteins (Proteins, Gene)FDA Link 06/29/2017 - "In this report, we describe a female patient with VDDR2A caused by an early stop codon (R30X) in the VDR gene that resulted in a severely truncated VDR protein. "
5.	Parathyroid Hormone (Parathormone)IBA 01/01/2020 - "Abbreviations: 1,25(OH)2D3 = 1,25-dihydroxyvitamin D3 (calcitriol); 25OHD3 = 25-hydroxyvitamin D3; PCR = polymerase chain reaction; PTH = parathyroid hormone; VDDR2A = vitamin D-dependent rickets type 2A; VDR = vitamin D receptor."
6.	Codon (Codons)IBA 06/29/2017 - "In this report, we describe a female patient with VDDR2A caused by an early stop codon (R30X) in the VDR gene that resulted in a severely truncated VDR protein. "
7.	Cholecalciferol (Vitamin D3)FDA Link 02/01/2019 - "VDDR2A is a rare autosomal recessive disorder caused by mutation in the Vitamin D receptor gene, leading to end-organ resistance to 1,25(OH)2 Vitamin D3. "
8.	CalciumIBA 06/29/2017 - "Changes in bone metabolic parameters following oral calcium supplementation in an adult patient with vitamin D-dependent rickets type 2A." 06/29/2017 - "The genetic diagnosis of VDDR2A promoted the discontinuation of active vitamin D treatment in favor of monotherapy with oral calcium supplementation. "
9.	Calcitriol (Calcijex)FDA LinkGeneric 01/01/2020 - "Objective: Vitamin D-dependent rickets type 2A (VDDR2A) is a rare autosomal recessive disorder caused by mutations in the vitamin D receptor gene (VDR), leading to end-organ resistance to 1,25-dihydroxyvitamin D3 (1,25[OH]2D3). " 01/01/2020 - "Abbreviations: 1,25(OH)2D3 = 1,25-dihydroxyvitamin D3 (calcitriol); 25OHD3 = 25-hydroxyvitamin D3; PCR = polymerase chain reaction; PTH = parathyroid hormone; VDDR2A = vitamin D-dependent rickets type 2A; VDR = vitamin D receptor."
10.	Calcifediol (Calcidiol)FDA Link 01/01/2020 - "Abbreviations: 1,25(OH)2D3 = 1,25-dihydroxyvitamin D3 (calcitriol); 25OHD3 = 25-hydroxyvitamin D3; PCR = polymerase chain reaction; PTH = parathyroid hormone; VDDR2A = vitamin D-dependent rickets type 2A; VDR = vitamin D receptor."