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GlossaryHereditary Vitamin D Resistant Rickets (HVDRR)

genetic disorder causing poor bone development despite normal vitamin D levels

Hereditary Vitamin D Resistant Rickets (HVDRR) is a rare genetic disorder where the body is unable to properly respond to vitamin D, leading to poor bone development and rickets despite normal or high levels of vitamin D in the blood. This condition is caused by mutations in the vitamin D receptor (VDR) gene, which impairs the body's ability to absorb calcium and phosphate, essential for healthy bone formation.

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Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets (HVDRR): Clinical Heterogeneity and Long-Term Efficacious Management of Eight Patients from Four Unrelated Arab Families with a Loss of Function VDR Mutation

research Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets (HVDRR): Clinical Heterogeneity and Long-Term Efficacious Management of Eight Patients from Four Unrelated Arab Families with a Loss of Function VDR Mutation

6 citations, June 2018 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism”

Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.

research Hereditary Vitamin D-Resistant Rickets (HVDRR) Owing to a Heterozygous Mutation in the Vitamin D Receptor

37 citations, August 2011 in “Journal of Bone and Mineral Research”

A girl had rickets due to a gene mutation affecting vitamin D response.

research Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets

29 citations, January 2003 in “KARGER eBooks”

HVDRR is caused by VDR gene mutations, leading to vitamin D resistance, treatable with high calcium doses, but alopecia remains permanent.

research Nonfebrile Seizures in Pediatrics: Key Points to Remember

January 2024 in “Curēus”

Early diagnosis and treatment of hereditary vitamin D-resistant rickets (HVDRR) are crucial to prevent growth issues and other health problems.

research The Nuclear Vitamin D Receptor: Biological and Molecular Regulatory Properties Revealed

1308 citations, March 1998 in “Journal of bone and mineral research”

The vitamin D receptor is crucial for bone health and affects various body systems, with mutations potentially leading to disease.

research Genetic Disorders and Defects in Vitamin D Action

151 citations, June 2010 in “Endocrinology and metabolism clinics of North America”

Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.

research Mutations in the Vitamin D Receptor and Hereditary Vitamin D-Resistant Rickets

107 citations, March 2014 in “BoneKEy Reports”

Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.

research Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets Due to an Opal Mutation Causing Premature Termination of the Vitamin D Receptor

47 citations, February 1998 in “Journal of bone and mineral research”

A specific gene mutation causes vitamin D-resistant rickets and hair loss.

research A Humanized Mouse Model of Hereditary 1,25-Dihydroxyvitamin D–Resistant Rickets Without Alopecia

25 citations, August 2014 in “Endocrinology”

Researchers created a mouse model of a type of rickets that does not cause hair loss.

research A Human Vitamin D Receptor Mutation Causes Rickets and Impaired Th1/Th17 Responses

12 citations, September 2014 in “Bone”

A vitamin D receptor mutation causes rickets and affects immune responses.

research Two Siblings With a Novel Nonsense Mutation, p.R50X, in the Vitamin D Receptor Gene

8 citations, March 2011 in “Endocrine”

A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.

research Clinical and Genetic Findings in a Chinese Family with VDR-Associated Hereditary Vitamin D-Resistant Rickets

7 citations, June 2016 in “Bone Research”

A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.

research Hereditary Vitamin D Rickets: A Case Series in a Family

6 citations, January 2014 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism”

Three siblings with a genetic form of rickets showed different symptoms of the disease.

research Hereditary Vitamin D Resistant Rickets: Clinical, Laboratory, and Genetic Characteristics of Two Iranian Siblings

5 citations, July 2017 in “International journal of endocrinology and metabolism/International journal of endocrinology and metabolism.”

Two siblings with a genetic mutation had a form of rickets that doesn't respond to vitamin D.

research Hereditary Vitamin D-Resistant Rickets in Lebanese Patients: The p.R391S and p.H397P Variants Have Different Phenotypes

4 citations, January 2017 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism”

Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.

research Commonly Associated Disorders With Complete Scalp Alopecia in Early Childhood: A Review

March 2023 in “International journal of trichology”

Six genetic conditions are often linked to complete scalp hair loss in children.

research Clinical and Genetic Characterization of Tunisian Children with Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets

8 citations, December 2016 in “Hormone Research in Paediatrics”

Tunisian children with hereditary vitamin D-resistant rickets showed improvement with calcium treatment, and new genetic mutations were identified.

research Functional Analysis of VDR Gene Mutation R343H in a Child with Vitamin D-Resistant Rickets with Alopecia

6 citations, November 2017 in “Scientific reports”

The R343H mutation in the VDR gene causes vitamin D-resistant rickets with alopecia by impairing specific gene activity.

Experience of Intravenous Calcium Treatment and Long-Term Responses to Treatment in a Patient with Hereditary Vitamin D-Resistant Rickets Resulting from a Novel Mutation

research Experience of Intravenous Calcium Treatment and Long-Term Responses to Treatment in a Patient with Hereditary Vitamin D-Resistant Rickets Resulting from a Novel Mutation

1 citations, May 2019 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism”

Intravenous calcium therapy is a safe and effective treatment for a rare type of rickets.

research Development and Progression of Alopecia in the Vitamin D Receptor Null Mouse

81 citations, January 2006 in “Journal of cellular physiology”

Mice without the vitamin D receptor gene lose hair due to disrupted hair follicle cycles.

research Mutations in the Vitamin D Receptor Gene in Four Patients with Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets

24 citations, November 2008 in “Arquivos Brasileiros de Endocrinologia & Metabologia”

Four patients with a type of rickets and hair loss had different mutations in their vitamin D receptor gene, causing it to not work properly.

research Ligand-Independent Actions of Vitamin D Receptor

December 2017 in “Elsevier eBooks”

The vitamin D receptor helps maintain hair and bone health even without binding vitamin D.

research Vitamin D Metabolism and Function in the Skin

185 citations, December 2011 in “Molecular and cellular endocrinology”

Skin cells produce and activate vitamin D, which regulates skin functions and supports hair growth.

research Vitamin D and the Skin: Physiology and Pathophysiology

158 citations, August 2011 in “Reviews in endocrine and metabolic disorders”

Vitamin D and its receptor regulate skin functions like cell growth, immunity, hair cycle, and tumor prevention.

Targeted Expression of Human Vitamin D Receptor in the Skin Promotes the Initiation of the Postnatal Hair Follicle Cycle and Rescues Alopecia in Vitamin D Receptor Null Mice

research Targeted Expression of Human Vitamin D Receptor in the Skin Promotes the Initiation of the Postnatal Hair Follicle Cycle and Rescues Alopecia in Vitamin D Receptor Null Mice

57 citations, April 2002 in “The journal of investigative dermatology/Journal of investigative dermatology”

Vitamin D receptor is crucial for starting hair growth after birth.

research Interactions of the Vitamin D Receptor with the Corepressor Hairless

42 citations, July 2007 in “Journal of Biological Chemistry”

Most Hairless gene mutations reduce its ability to work with the Vitamin D Receptor, which might explain a certain type of hair loss.

research Type II Vitamin D Dependent Rickets: A Case Report

5 citations, January 1970 in “Journal of Nepal Paediatric Society”

Hair loss can be a key sign of a rare type of rickets when vitamin D treatment doesn't work and advanced tests aren't available.

research Mucocutaneous Manifestations of Endocrine Disorders

November 2013 in “John Wiley & Sons, Ltd eBooks”

Skin symptoms can indicate endocrine disorders and have various treatments.

research Atrichia Caused by Mutations in the Vitamin D Receptor Gene Is a Phenocopy of Generalized Atrichia Caused by Mutations in the Hairless Gene

139 citations, September 2001 in “The journal of investigative dermatology/Journal of investigative dermatology”

Mutations in the Vitamin D receptor gene can cause hair loss similar to mutations in the Hairless gene.

research The Vitamin D Receptor Is a Wnt Effector That Controls Hair Follicle Differentiation and Specifies Tumor Type in Adult Epidermis

127 citations, January 2008 in “PloS one”

Vitamin D receptor helps control hair growth and could be used to treat certain skin tumors.