Details of Disease

General Information of Disease (ID: DIS8E3KA)

Disease Name Autosomal recessive hypophosphatemic rickets
Synonyms ARHR; hereditary hypophosphatemic rickets, autosomal recessive; autosomal recessive hereditary hypophosphatemic rickets; hypophosphatemic rickets, autosomal recessive
Definition Autosomal recessive hypophosphatemic rickets (ARHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth.
Disease Hierarchy
DISCPWH9: Autosomal recessive disease
DISFHXFA: Hereditary hypophosphatemic rickets
DIS8E3KA: Autosomal recessive hypophosphatemic rickets
Disease Identifiers
MONDO ID
MONDO_0017324
MESH ID
C562792
UMLS CUI
C0342643
MedGen ID
137975
Orphanet ID
289176
SNOMED CT ID
726080006

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
ENPP1 TTZTIWS Supportive Autosomal recessive [1]
ENPP1 TTZTIWS Strong Biomarker [2]
FGF23 TT2IZ4K Strong Biomarker [3]
PHKG2 TTI5WS6 Definitive 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
DMP1 OTBWBWW7 Supportive Autosomal recessive [1]
ENPP1 OT3MPPYX Supportive Autosomal recessive [1]
PHEX OTG7N3J7 Strong Genetic Variation [4]
GALNT3 OT7M67WT Definitive Biomarker [5]
NSUN2 OTZCNM33 Definitive Genetic Variation [4]
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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 Human Heterozygous ENPP1 Deficiency Is Associated With Early Onset Osteoporosis, a Phenotype Recapitulated in a Mouse Model of Enpp1 Deficiency.J Bone Miner Res. 2020 Mar;35(3):528-539. doi: 10.1002/jbmr.3911. Epub 2019 Dec 5.
3 DMP1 Ablation in the Rabbit Results in Mineralization Defects and Abnormalities in Haversian Canal/Osteon Microarchitecture.J Bone Miner Res. 2019 Jun;34(6):1115-1128. doi: 10.1002/jbmr.3683. Epub 2019 Mar 3.
4 Whole exome sequencing unravels disease-causing genes in consanguineous families in Qatar. Clin Genet. 2014 Aug;86(2):134-41. doi: 10.1111/cge.12280. Epub 2013 Oct 13.
5 A Mutation in the Dmp1 Gene Alters Phosphate Responsiveness in Mice.Endocrinology. 2017 Mar 1;158(3):470-476. doi: 10.1210/en.2016-1642.