Details of Disease

General Information of Disease (ID: DISBF2X7)

• Disease Name: Vitamin D-dependent rickets, type 1
• Synonyms: vitamin D dependency, type 1; vitamin D-dependent rickets type 1; PDDRI; VDDI; 1-alpha-hydroxylase deficiency; 1 Alpha-hydroxylase deficiency; vitamin D 1 Alpha-Hydroxylase deficiency; vitamin D dependent rickets type I; vitamin D-dependency type I; pseudo vitamin-D deficient rickets; VDDR-I; pseudovitamin D-deficient rickets; hypocalcemic vitamin D-dependent rickets; selective 1-alpha, 25-hydroxyvitamin D3 deficiency; VDDR1
• Definition: Hypocalcemic vitamin D-dependent rickets (VDDR-I) is an early-onset hereditary vitamin D metabolism disorder characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia.
• Disease Hierarchy:
  DIS1S2RY: Hypocalcemic rickets
  DISC3UAJ: Vitamin D-dependent rickets
  DISBF2X7: Vitamin D-dependent rickets, type 1
• Disease Identifiers:
  MONDO ID: MONDO_0009924
  MESH ID: C562688
  UMLS CUI: C0268689
  OMIM ID: 264700
  MedGen ID: 124344
  Orphanet ID: 289157
  SNOMED CT ID: 67049004

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 4 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
CYP27B1	DE3FYEM	Supportive	Autosomal recessive	[1]
CYP2R1	DEBIHM3	Supportive	Autosomal recessive	[1]
CYP27B1	DE3FYEM	Strong	Genetic Variation	[2]
CYP2R1	DEBIHM3	Definitive	Genetic Variation	[3]

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CYP27B1	OTTK98BH	Supportive	Autosomal recessive	[1]
CYP2R1	OT0L1M1D	Supportive	Autosomal recessive	[1]
FDX1	OT7I3DN0	Strong	Genetic Variation	[4]

References

• [1] Clinical Practice Guidelines for Rare Diseases: The Orphanet Database. PLoS One. 2017 Jan 18;12(1):e0170365. doi: 10.1371/journal.pone.0170365. eCollection 2017.
• [2] Hypophosphatemic osteosclerosis, hyperostosis, and enthesopathy associated with novel homozygous mutations of DMP1 encoding dentin matrix protein 1 and SPP1 encoding osteopontin: The first digenic SIBLING protein osteopathy?.Bone. 2020 Mar;132:115190. doi: 10.1016/j.bone.2019.115190. Epub 2019 Dec 13.
• [3] Genetic disorders of Vitamin D biosynthesis and degradation.J Steroid Biochem Mol Biol. 2017 Jan;165(Pt A):101-108. doi: 10.1016/j.jsbmb.2016.04.001. Epub 2016 Apr 6.
• [4] Vitamin D-Dependent Rickets Type 1 Caused by Mutations in CYP27B1 Affecting Protein Interactions With Adrenodoxin.J Clin Endocrinol Metab. 2016 Sep;101(9):3409-18. doi: 10.1210/jc.2016-2124. Epub 2016 Jul 11.