Paget disease of bone 5, juvenile-onset

Preferred Label : Paget disease of bone 5, juvenile-onset;

Symbol : PDB5;

CISMeF acronym : JPD; PDB5;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hyperphosphatasia, familial idiopathic; JPD; Hyperostosis corticalis deformans juvenilis; Osteoectasia, familial; Juvenile paget disease; Hyperphosphatasemia, chronic congenital idiopathic;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the tumor necrosis factor receptor superfamily, member 11B gene (TNFRSF11B, 602643.0001);

Laboratory abnormalities : Increased serum alkaline phosphatase;

Prefixed ID : #239000;

Details

Origin ID

239000;

UMLS CUI

C0268414;

Automatic exact mappings (from CISMeF team)
- Paget disease of bone 5 [HGNC gene]
- TNFRSF11B wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Hyperostosis corticalis deformans juvenilis [MeSH concept]
- Hyperphosphatasemia with bone disease (disorder) [SNOMED CT concept]
- Juvenile Paget Disease [NCIt concept]
- Juvenile Paget disease [ICD-11 Subcategory]
- Juvenile Paget disease [ORDO Disease]
- Juvenile Paget's disease [MedDRA Preferred Term]
- Paget disease juvenile type [TUV Concept]
- hyperostosis corticalis deformans juvenilis [MeSH Supplementary Concept]
- hyperphosphatasemia with bone disease [SNOMED Notion]
Genes related to phenotype
- Tumor necrosis factor receptor superfamily, member 11b [OMIM gene]
HPO term(s)
- Angioid streaks of the fundus [HPO term]
- Ankylosis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Barrel-shaped chest [HPO term]
- Bowing of the long bones [HPO term]
- Delayed gross motor development [HPO term]
- Elevated circulating alkaline phosphatase concentration [HPO term]
- Elevated serum acid phosphatase [HPO term]
- Failure to thrive [HPO term]
- Genu varus [HPO term]
- Hearing impairment [HPO term]
- Hydroxyprolinemia [HPO term]
- Hydroxyprolinuria [HPO term]
- Hypercalciuria [HPO term]
- Hyperphosphatemia [HPO term]
- Hyperuricemia [HPO term]
- Hypotonia [HPO term]
- Increased bone mineral density [HPO term]
- Increased urine deoxypyridinoline level [HPO term]
- Infantile onset [HPO term]
- Kyphosis [HPO term]
- Lateral femoral bowing [HPO term]
- Macrocephaly [HPO term]
- Macular scar [HPO term]
- Motor delay [HPO term]
- Muscle weakness [HPO term]
- Osteopenia [HPO term]
- Osteoporosis [HPO term]
- Premature loss of teeth [HPO term]
- Progressive [HPO term]
- Recurrent fractures [HPO term]
- Relative macrocephaly [HPO term]
- Retinal degeneration [HPO term]
- Retinopathy [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short humerus [HPO term]
- Short stature [HPO term]
- Thickened calvaria [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Juvenile Paget disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hyperostosis corticalis deformans juvenilis [MeSH concept]
- Hyperphosphatasemia with bone disease (disorder) [SNOMED CT concept]
- Juvenile Paget Disease [NCIt concept]
- Juvenile Paget disease [ORDO Disease]
- Juvenile Paget's disease [MedDRA Preferred Term]
- Paget disease juvenile type [TUV Concept]
- hyperostosis corticalis deformans juvenilis [MeSH Supplementary Concept]
- hyperphosphatasemia with bone disease [SNOMED Notion]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients