Osteopetrosis, autosomal dominant 1

Preferred Label : Osteopetrosis, autosomal dominant 1;

Symbol : OPTA1;

CISMeF acronym : OPTA1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Osteopetrosis, autosomal dominant, type I;

Description : The osteopetroses are a heterogeneous group of genetic disorders characterized by increased bone density due to impaired bone resorption by osteoclasts. Autosomal dominant osteopetrosis type I is characterized by generalized osteosclerosis most pronounced in the cranial vault. Patients are often asymptomatic, but some suffer from pain and hearing loss. It appears to be the only type of osteopetrosis not associated with an increased fracture rate. Type II autosomal dominant osteopetrosis is characterized by sclerosis predominantly involving the spine, the pelvis, and the skull base. Fragility of bones and dental abscess are leading complications.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the low-density lipoprotein receptor-related protein 5 gene (LRP5, 603506.0014);

Laboratory abnormalities : Normal serum acid phosphatase;

Prefixed ID : #607634;

Details

Origin ID

607634;

UMLS CUI

C1843330;

Automatic exact mappings (from CISMeF team)
- LDL receptor related protein 5 [ORDO Gene]
- LDL receptor related protein 5 [HGNC gene]
- LRP5 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Autosomal dominant osteopetrosis type 1 [ICD-11 More detail]
- Autosomal dominant osteopetrosis type 1 [ORDO Disease]
- Autosomal dominant osteopetrosis type 1 (disorder) [SNOMED CT concept]
- Osteopetrosis autosomal dominant type 1 [MeSH concept]
- autosomal dominant osteopetrosis 1 [DO Concept]
- osteopetrosis autosomal dominant type 1 [MeSH Supplementary Concept]
DO Cross reference
- autosomal dominant osteopetrosis 1 [DO Concept]
Genes related to phenotype
- Low density lipoprotein receptor-related protein 5 [OMIM gene]
HPO term(s)
- Abnormality of pelvic girdle bone morphology [HPO term]
- Abnormality of the vertebral column [HPO term]
- Autosomal dominant inheritance [HPO term]
- Calvarial osteosclerosis [HPO term]
- Conductive hearing impairment [HPO term]
- Generalized osteosclerosis [HPO term]
- Headache [HPO term]
- Mandibular pain [HPO term]
- Osteopetrosis [HPO term]
- Thickened calvaria [HPO term]
- Thickened cortex of long bones [HPO term]
- Torus palatinus [HPO term]
Not associated HPO term(s)
- Elevated serum acid phosphatase [HPO term]
- Recurrent fractures [HPO term]
ORDO concept(s)
- Autosomal dominant osteopetrosis type 1 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant osteopetrosis type 1 [ORDO Disease]
- Autosomal dominant osteopetrosis type 1 [ICD-11 More detail]
- Autosomal dominant osteopetrosis type 1 (disorder) [SNOMED CT concept]
- Osteopetrosis autosomal dominant type 1 [MeSH concept]
- autosomal dominant osteopetrosis 1 [DO Concept]
- osteopetrosis autosomal dominant type 1 [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients