Details of Disease | DrugMAP

General Information of Disease (ID: DISFTLIR)

Disease Name	X-linked hypophosphatemic rickets
Synonyms	X-linked hypophosphatemic rickets (recessive or dominant); X-linked hypophosphatemic rickets
Disease Hierarchy	DIS3PN9X: X-linked disease DISFHXFA: Hereditary hypophosphatemic rickets DISFTLIR: X-linked hypophosphatemic rickets
Disease Identifiers	MONDO ID MONDO_0020720 MESH ID D053098 UMLS CUI C3540852 MedGen ID 761927

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ECE2	TT5U914	moderate	Genetic Variation	[1]
AVPR2	TTK8R02	Strong	Genetic Variation	[2]
ENPP1	TTZTIWS	Strong	Genetic Variation	[3]
FGF23	TT2IZ4K	Strong	Biomarker	[4]
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This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC17A1	DT8ARWJ	moderate	Biomarker	[5]
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This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
KEL	OT47DJW0	moderate	Genetic Variation	[1]
PTRH1	OTOAOS93	moderate	Genetic Variation	[6]
DMP1	OTBWBWW7	Strong	Genetic Variation	[7]
PHEX	OTG7N3J7	Strong	Genetic Variation	[8]
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References

1	The neprilysin family in health and disease.Adv Exp Med Biol. 2000;477:229-40. doi: 10.1007/0-306-46826-3_25.
2	Familial hypophosphatemic rickets caused by a large deletion in PHEX gene.Eur J Endocrinol. 2009 Oct;161(4):647-51. doi: 10.1530/EJE-09-0261. Epub 2009 Jul 6.
3	Hypophosphatemic rickets.Curr Opin Endocrinol Diabetes Obes. 2012 Dec;19(6):460-7. doi: 10.1097/MED.0b013e328358be97.
4	Physiology of FGF23 and overview of genetic diseases associated with renal phosphate wasting.Metabolism. 2020 Feb;103S:153865. doi: 10.1016/j.metabol.2019.01.006. Epub 2019 Jan 19.
5	Chromosomal localization of the human renal sodium phosphate transporter to chromosome 5: implications for X-linked hypophosphatemia.Pediatr Res. 1994 Apr;35(4 Pt 1):510-3.
6	Parathyroid hormone sensitivity in familial X-linked hypophosphatemic rickets.J Clin Endocrinol Metab. 1989 Aug;69(2):386-9. doi: 10.1210/jcem-69-2-386.
7	Hypophosphatemic rickets accelerate chondrogenesis and cell trans-differentiation from TMJ chondrocytes into bone cells via a sharp increase in -catenin.Bone. 2020 Feb;131:115151. doi: 10.1016/j.bone.2019.115151. Epub 2019 Nov 18.
8	'Isolated' germline mosaicism in the phenotypically normal father of a girl with X-linked hypophosphatemic rickets.Eur J Endocrinol. 2020 Jan;182(1):K1-K6. doi: 10.1530/EJE-19-0472.