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Vitamin D-dependent rickets, type 2(HVDRR)

MedGen UID:
760752
•Concept ID:
C3536983
•
Disease or Syndrome
Synonyms: Familial Hypophosphatemic Rickets; Vitamin D-Dependent Rickets Type II
SNOMED CT: Vitamin D-dependent rickets, type 2 (72831007); Calcitriol receptor defect (72831007); Type 2 vitamin D-dependent rickets (72831007); Vitamin D-dependent rickets type II (72831007); End organ unresponsiveness to 1,25-dihydroxycholecalciferol (72831007)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Related gene: VDR
 
Monarch Initiative: MONDO:0019642
OMIM®: 277440
Orphanet: ORPHA93160

Definition

Hypocalcemic vitamin D-resistant rickets (HVDRR) is a hereditary disorder of vitamin D action characterized by hypocalcemia, severe rickets and in many cases alopecia. [from ORDO]

Professional guidelines

PubMed

Consensus Recommendations for the Diagnosis and Management of X-Linked Hypophosphatemia in Belgium.
Laurent MR, De Schepper J, Trouet D, Godefroid N, Boros E, Heinrichs C, Bravenboer B, Velkeniers B, Lammens J, Harvengt P, Cavalier E, Kaux JF, Lombet J, De Waele K, Verroken C, van Hoeck K, Mortier GR, Levtchenko E, Vande Walle J
Front Endocrinol (Lausanne) 2021;12:641543. Epub 2021 Mar 19 doi: 10.3389/fendo.2021.641543. PMID: 33815294Free PMC Article
FGF23-related hypophosphatemic rickets/osteomalacia: diagnosis and new treatment.
Fukumoto S
J Mol Endocrinol 2021 Feb;66(2):R57-R65. doi: 10.1530/JME-20-0089. PMID: 33295878
Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia.
Haffner D, Emma F, Eastwood DM, Duplan MB, Bacchetta J, Schnabel D, Wicart P, Bockenhauer D, Santos F, Levtchenko E, Harvengt P, Kirchhoff M, Di Rocco F, Chaussain C, Brandi ML, Savendahl L, Briot K, Kamenicky P, Rejnmark L, Linglart A
Nat Rev Nephrol 2019 Jul;15(7):435-455. doi: 10.1038/s41581-019-0152-5. PMID: 31068690Free PMC Article

Recent clinical studies

Etiology

Rickets in association with skin diseases and conditions: A review with emphasis on screening and prevention.
Litaiem N, Chabchoub I, Bacha T, Slouma M, Zeglaoui F, Khachemoune A
Photodermatol Photoimmunol Photomed 2020 Sep;36(5):339-350. Epub 2020 Jul 24 doi: 10.1111/phpp.12590. PMID: 32645757

Diagnosis

Rickets in association with skin diseases and conditions: A review with emphasis on screening and prevention.
Litaiem N, Chabchoub I, Bacha T, Slouma M, Zeglaoui F, Khachemoune A
Photodermatol Photoimmunol Photomed 2020 Sep;36(5):339-350. Epub 2020 Jul 24 doi: 10.1111/phpp.12590. PMID: 32645757
A novel pathogenic mutation of the CYP27B1 gene in a patient with vitamin D-dependent rickets type 1: a case report.
Babiker AM, Al Gadi I, Al-Jurayyan NA, Al Nemri AM, Al Haboob AA, Al Boukai AA, Al Zahrani A, Habib HA
BMC Res Notes 2014 Nov 5;7:783. doi: 10.1186/1756-0500-7-783. PMID: 25371233Free PMC Article
Vitamin D dependent rickets, diagnostic and therapeutic difficulties: two case reports.
Donghi V, Di Frenna M, di Lascio A, Chiumello G, Weber G
J Pediatr Endocrinol Metab 2011;24(9-10):801-5. doi: 10.1515/jpem.2011.214. PMID: 22145480
Vitamin-D-dependent rickets type 2.
Hochberg Z
Horm Res 2002;58(6):297-302. doi: 10.1159/000066442. PMID: 12446995

Therapy

A novel pathogenic mutation of the CYP27B1 gene in a patient with vitamin D-dependent rickets type 1: a case report.
Babiker AM, Al Gadi I, Al-Jurayyan NA, Al Nemri AM, Al Haboob AA, Al Boukai AA, Al Zahrani A, Habib HA
BMC Res Notes 2014 Nov 5;7:783. doi: 10.1186/1756-0500-7-783. PMID: 25371233Free PMC Article
Vitamin D dependent rickets, diagnostic and therapeutic difficulties: two case reports.
Donghi V, Di Frenna M, di Lascio A, Chiumello G, Weber G
J Pediatr Endocrinol Metab 2011;24(9-10):801-5. doi: 10.1515/jpem.2011.214. PMID: 22145480
Genetic disorders and defects in vitamin d action.
Malloy PJ, Feldman D
Endocrinol Metab Clin North Am 2010 Jun;39(2):333-46, table of contents. doi: 10.1016/j.ecl.2010.02.004. PMID: 20511055Free PMC Article
Vitamin-D-dependent rickets type 2.
Hochberg Z
Horm Res 2002;58(6):297-302. doi: 10.1159/000066442. PMID: 12446995

Prognosis

Vitamin-D-dependent rickets type 2.
Hochberg Z
Horm Res 2002;58(6):297-302. doi: 10.1159/000066442. PMID: 12446995
1 alpha,25-Dihydroxyvitamin D3 inhibits gamma-interferon synthesis by normal human peripheral blood lymphocytes.
Reichel H, Koeffler HP, Tobler A, Norman AW
Proc Natl Acad Sci U S A 1987 May;84(10):3385-9. doi: 10.1073/pnas.84.10.3385. PMID: 3033646Free PMC Article

Recent systematic reviews

Rickets in association with skin diseases and conditions: A review with emphasis on screening and prevention.
Litaiem N, Chabchoub I, Bacha T, Slouma M, Zeglaoui F, Khachemoune A
Photodermatol Photoimmunol Photomed 2020 Sep;36(5):339-350. Epub 2020 Jul 24 doi: 10.1111/phpp.12590. PMID: 32645757

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