Details of Disease

Disease Name

Autosomal dominant hypophosphatemic rickets

hypophosphatemia, autosomal dominant; vitamin D-resistant rickets, autosomal dominant; autosomal dominant hypophosphatemic rickets; autosomal dominant hypophosphatemia; ADHR; hypophosphatemic rickets, autosomal dominant; autosomal dominant hereditary hypophosphatemic rickets; hereditary hypophosphatemic rickets, autosomal dominant

Definition

Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia.

Disease Hierarchy

DIS5A054: Abnormal mineralization disorder

DIS3HIWD: Autosomal dominant disease

DISFHXFA: Hereditary hypophosphatemic rickets

DISG799S: Autosomal dominant hypophosphatemic rickets

Disease Identifiers

MONDO ID

MONDO_0008660

MESH ID

C562791

UMLS CUI

C0342642

OMIM ID

193100

MedGen ID

83346

Orphanet ID

89937

SNOMED CT ID

237889002

General Information of Disease (ID: DISG799S)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
FGF23	TT2IZ4K	Strong	Autosomal dominant	[1]
FGF23	TT2IZ4K	Strong	Altered Expression	[2]
KLB	TTARBVH	Strong	Biomarker	[3]
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This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC34A1	DT42EWA	Strong	Genetic Variation	[4]
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This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GALNT8	OT05BKVP	Disputed	Biomarker	[5]
FGF23	OTZT523D	Strong	Autosomal dominant	[1]
MEPE	OTXJRUW0	Strong	Biomarker	[6]
PHEX	OTG7N3J7	Strong	Genetic Variation	[7]
SGK3	OTQ6QO99	Strong	Genetic Variation	[8]
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References

1	Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23. Nat Genet. 2000 Nov;26(3):345-8. doi: 10.1038/81664.
2	Iron replacement ameliorates hypophosphatemia in autosomal dominant hypophosphatemic rickets: A review of the role of iron.Bone. 2020 Feb;131:115137. doi: 10.1016/j.bone.2019.115137. Epub 2019 Nov 19.
3	The cooperation of FGF receptor and Klotho is involved in excretory canal development and regulation of metabolic homeostasis in Caenorhabditis elegans.J Biol Chem. 2011 Feb 18;286(7):5657-66. doi: 10.1074/jbc.M110.173039. Epub 2010 Dec 21.
4	A novel heterozygous mutation c.680A>G (p. N227S) in SLC34A1 gene leading to autosomal dominant hypophosphatemia: A case report.Medicine (Baltimore). 2019 May;98(20):e15617. doi: 10.1097/MD.0000000000015617.
5	Molecular cloning of a novel human UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase, GalNAc-T8, and analysis as a candidate autosomal dominant hypophosphatemic rickets (ADHR) gene.Gene. 2000 Apr 4;246(1-2):347-56. doi: 10.1016/s0378-1119(00)00050-0.
6	FGF23, PHEX, and MEPE regulation of phosphate homeostasis and skeletal mineralization.Am J Physiol Endocrinol Metab. 2003 Jul;285(1):E1-9. doi: 10.1152/ajpendo.00016.2003.
7	Osteocyte regulation of phosphate homeostasis and bone mineralization underlies the pathophysiology of the heritable disorders of rickets and osteomalacia.Bone. 2013 Jun;54(2):213-21. doi: 10.1016/j.bone.2013.01.046. Epub 2013 Feb 9.
8	Mutation of SGK3, a Novel Regulator of Renal Phosphate Transport, Causes Autosomal Dominant Hypophosphatemic Rickets.J Clin Endocrinol Metab. 2020 Jun 1;105(6):dgz260. doi: 10.1210/clinem/dgz260.