Paget disease of bone 2, early-onset

Preferred Label : Paget disease of bone 2, early-onset;

Symbol : PDB2;

CISMeF acronym : PDB2;

Type : Phenotype, molecular basis known;

Description : Paget disease is a metabolic bone disease characterized by focal abnormalities of increased bone turnover affecting 1 or more sites throughout the skeleton, primarily the axial skeleton. Bone lesions in this disorder show evidence of increased osteoclastic bone resorption and disorganized bone structure. Ralston et al. (2008) provided a detailed review of the pathogenesis and current management of the disorder.;

Inheritance : Autosomal dominant;

Molecular basis : Susceptibility conferred by mutation in the tumor necrosis factor receptor superfamily, member 11A gene (TNFRSF11A, 603499.0002);

Laboratory abnormalities : Elevated alkaline phosphatase;

Prefixed ID : #602080;

Details

Origin ID

602080;

UMLS CUI

C4085251;

Automatic exact mappings (from CISMeF team)
- PDB ID [EDAM data]
- Pagets disease of other bones | ankle and foot [ICD-10 Subdivision (who)]
- Pagets disease of other bones | forearm [ICD-10 Subdivision (who)]
- Pagets disease of other bones | hand [ICD-10 Subdivision (who)]
- Pagets disease of other bones | lower leg [ICD-10 Subdivision (who)]
- Pagets disease of other bones | multiple sites [ICD-10 Subdivision (who)]
- Pagets disease of other bones | other [ICD-10 Subdivision (who)]
- Pagets disease of other bones | pelvic region and thigh [ICD-10 Subdivision (who)]
- Pagets disease of other bones | shoulder region [ICD-10 Subdivision (who)]
- Pagets disease of other bones | site unspecified [ICD-10 Subdivision (who)]
- Pagets disease of other bones | upper arm [ICD-10 Subdivision (who)]
- Paradichlorobenzene [NCIt concept]
- Protein Data Bank [NCIt concept]
- TNFRSF11A wt Allele [NCIt concept]
- symbol withdrawn PDB2 [HGNC gene]
Currated CISMeF NLP mapping
- Bone Paget Disease [NCIt concept]
- Osteitis deformans (disorder) [SNOMED CT concept]
- Paget disease of bone [PASCAL descriptor]
- Paget disease of bone [ORDO Disease]
- Paget's disease of bone [DO Concept]
- Paget's disease of bone [MedDRA LLT]
- Pagets disease of other bones [ICD-10 Sub-category (who)]
- osteitis deformans [MeSH Descriptor]
- osteitis deformans [MeSH concept]
- paget's disease of bone [MedlinePlus Topic]
DO Cross reference
- Paget's disease of bone [DO Concept]
Genes related to phenotype
- Tumor necrosis factor receptor superfamily, member 11a [OMIM gene]
HPO term(s)
- Abnormality of pelvic girdle bone morphology [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bilateral conductive hearing impairment [HPO term]
- Bilateral sensorineural deafness [HPO term]
- Bone pain [HPO term]
- Bowing of the long bones [HPO term]
- Brain stem compression [HPO term]
- Cranial nerve paralysis [HPO term]
- Elevated circulating alkaline phosphatase concentration [HPO term]
- Fractures of the long bones [HPO term]
- Heterogeneous [HPO term]
- Hydroxyprolinuria [HPO term]
- Increased susceptibility to fractures [HPO term]
- Long-tract signs [HPO term]
- Osteolysis [HPO term]
- Paraparesis [HPO term]
- Premature loss of teeth [HPO term]
- Progressive [HPO term]
- Tetraparesis [HPO term]
- Variable expressivity [HPO term]
- Vertebral compression fracture [HPO term]
ORDO concept(s)
- Paget disease of bone [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Paget bone disease [Disease (Nov.)]

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