Details of Disease

General Information of Disease (ID: DISNVDB2)

Disease Name Juvenile Paget disease
Synonyms
Paget disease juvenile type; hyperphosphatasia, familial idiopathic; hyperphosphatasemia, chronic congenital idiopathic; osteoectasia, familial; Paget disease of bone 5, juvenile-onset; PDB5; JPD; hyperostosid corticalis deformans juvenilis; juvenile Pagets disease; JPG; hyperostosis corticalis deformans juvenilis; hereditary hyperphosphatasia; familial hyperphosphatasia; juvenile Paget disease; juvenile Paget's disease; familial osteoectasia; Hereditary Hyperphosphatasia
Definition
Juvenile Paget disease is a very rare form of Paget disease of the bone characterized by a general increase in bone turnover with increased bone resorption and deposition, resulting in cortical and trabecular thickening, and clinically presenting as progressive skeletal deformities, growth impairment, fractures, vertebral collapse, skull enlargement and sensorineural hearing loss.
Disease Hierarchy
DISIPS4V: Bone Paget disease
DISNVDB2: Juvenile Paget disease
Disease Identifiers
MONDO ID
MONDO_0009394
MESH ID
C537701
UMLS CUI
C0268414
OMIM ID
239000
MedGen ID
75678
Orphanet ID
2801
SNOMED CT ID
9723006

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
TNFRSF11B TT2CJ75 Limited Genetic Variation [1]
TNFSF11 TT9E8HR Limited Genetic Variation [2]
TNFRSF11A TT3K9S2 moderate Genetic Variation [3]
TNFRSF11B TT2CJ75 Strong Autosomal recessive [4]
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This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
DCSTAMP OTFKRP2H Strong Genetic Variation [5]
PIGV OTI6LT46 Strong Genetic Variation [6]
TNFRSF11B OTQ4W7MT Strong Autosomal recessive [4]
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References

1 Juvenile Paget's disease with compound heterozygous mutations in TNFRSF11B presenting with recurrent clavicular fractures and a mild skeletal phenotype.Bone. 2020 Jan;130:115098. doi: 10.1016/j.bone.2019.115098. Epub 2019 Oct 23.
2 Juvenile Paget's disease with heterozygous duplication within TNFRSF11A encoding RANK.Bone. 2014 Nov;68:153-61. doi: 10.1016/j.bone.2014.07.019. Epub 2014 Jul 23.
3 Auricular ossification: A newly recognized feature of osteoprotegerin-deficiency juvenile Paget disease.Am J Med Genet A. 2016 Apr;170A(4):978-85. doi: 10.1002/ajmg.a.37536. Epub 2016 Jan 14.
4 Idiopathic hyperphosphatasia and TNFRSF11B mutations: relationships between phenotype and genotype. J Bone Miner Res. 2003 Dec;18(12):2095-104. doi: 10.1359/jbmr.2003.18.12.2095.
5 Polymorphisms of CSF1 and TM7SF4 genes in a case of mild juvenile Paget's disease found using next-generation sequencing.Croat Med J. 2015 Apr;56(2):145-51. doi: 10.3325/cmj.2015.56.145.
6 Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up.Mol Genet Metab. 2011 Sep-Oct;104(1-2):48-60. doi: 10.1016/j.ymgme.2011.05.014. Epub 2011 May 24.