Paget disease of bone 3

Preferred Label : Paget disease of bone 3;

Symbol : PDB3;

CISMeF acronym : PDB3;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the sequestosome 1 gene (SQSTM1, 601530.0001);

Laboratory abnormalities : Increased alkaline phosphatase;

Prefixed ID : #167250;

Details

Origin ID

167250;

UMLS CUI

C4085252;

Automatic exact mappings (from CISMeF team)
- SQSTM1 wt Allele [NCIt concept]
- symbol withdrawn PDB3 [HGNC gene]
DO Cross reference
- Paget's disease of bone [DO Concept]
Genes related to phenotype
- Sequestosome 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bone pain [HPO term]
- Elevated circulating alkaline phosphatase concentration [HPO term]
- Fractures of the long bones [HPO term]
- Hearing impairment [HPO term]
- Osteolysis [HPO term]
- Osteosarcoma [HPO term]
- Patchy osteosclerosis [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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