KEGG DISEASE: Vitamin D-dependent rickets

KEGG

DISEASE: Vitamin D-dependent rickets

Entry

H01143                      Disease

Name

Vitamin D-dependent rickets

Description

Rickets is the failure of growing bone to mineralize. Many skeletal and radiographic changes can occur because of the lack of calcified osteoid and the buildup of unossified cartilage. Vitamin D-dependent rickets (VDDR) type I results from abnormalities in the gene coding for 25(OH)D3-1-alpha-hydroxylase and vitamin D 25-hydroxylase, and type II results from defective vitamin D receptors. Both diseases are rare autosomal recessive disorders characterized by hypocalcemia, secondary hyperparathyroidism and early onset severe rickets.

Category

Inherited metabolic disorder

Brite

Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
  Nutritional disorders
   Undernutrition
    5B57  Vitamin D deficiency
     H01143  Vitamin D-dependent rickets
Pathway-based classification of diseases [BR:br08402]
Lipid/glycolipid metabolism
  nt06034  Cholesterol biosynthesis
   H01143  Vitamin D-dependent rickets

Pathway

Steroid biosynthesis

Parathyroid hormone synthesis, secretion and action

Endocrine and other factor-regulated calcium reabsorption

Mineral absorption

Network

nt06034 Cholesterol biosynthesis

Gene

(VDDR1A) CYP27B1 [HSA:1594] [KO:K07438]
(VDDR1B) CYP2R1 [HSA:120227] [KO:K07419]
(VDDR2A) VDR [HSA:7421] [KO:K08539]
(VDDR3) CYP3A4 [HSA:1576] [KO:K17689]

Other DBs

ICD-11:

ICD-10:

MeSH:

C562688 C564005 C562794

OMIM:

264700 277440 600081 619073

Reference

Authors

Nield LS, Mahajan P, Joshi A, Kamat D

Title

Rickets: not a disease of the past.

Journal

Am Fam Physician 74:619-26 (2006)

Reference

Authors

Malloy PJ, Feldman D

Title

Genetic disorders and defects in vitamin d action.

Journal

Endocrinol Metab Clin North Am 39:333-46, table of contents (2010)
DOI:10.1016/j.ecl.2010.02.004

Reference

PMID:15972816 (CYP27B1)

Authors

Yamamoto K, Uchida E, Urushino N, Sakaki T, Kagawa N, Sawada N, Kamakura M, Kato S, Inouye K, Yamada S

Title

Identification of the amino acid residue of CYP27B1 responsible for binding of 25-hydroxyvitamin D3 whose mutation causes vitamin D-dependent rickets type 1.

Journal

J Biol Chem 280:30511-6 (2005)
DOI:10.1074/jbc.M505244200

Reference

PMID:15128933 (CYP2R1)

Authors

Cheng JB, Levine MA, Bell NH, Mangelsdorf DJ, Russell DW

Title

Genetic evidence that the human CYP2R1 enzyme is a key vitamin D 25-hydroxylase.

Journal

Proc Natl Acad Sci U S A 101:7711-5 (2004)
DOI:10.1073/pnas.0402490101

Reference

PMID:17970811 (VDR)

Authors

Arita K, Nanda A, Wessagowit V, Akiyama M, Alsaleh QA, McGrath JA

Title

A novel mutation in the VDR gene in hereditary vitamin D-resistant rickets.

Journal

Br J Dermatol 158:168-71 (2008)
DOI:10.1111/j.1365-2133.2007.08232.x

Reference

PMID:29461981 (CYP3A4)

Authors

Roizen JD, Li D, O'Lear L, Javaid MK, Shaw NJ, Ebeling PR, Nguyen HH, Rodda CP, Thummel KE, Thacher TD, Hakonarson H, Levine MA

Title

CYP3A4 mutation causes vitamin D-dependent rickets type 3.

Journal

J Clin Invest 128:1913-1918 (2018)
DOI:10.1172/JCI98680

LinkDB

» Japanese version

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