Camurati-engelmann disease

Preferred Label : Camurati-engelmann disease;

Symbol : CAEND;

CISMeF acronym : CAEND; CED; DPD1; PDD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : PDD; Engelmann disease; CED; Diaphyseal dysplasia 1, progressive; DPD1; Progressive diaphyseal dysplasia;

Description : Camurati-Engelmann disease is a rare autosomal dominant type of bone bone dysplasia. The hallmark of the disorder is the cortical thickening of the diaphyses of the long bones. Hyperostosis is bilateral and symmetrical and usually starts at the diaphyses of the femora and tibiae, expanding to the fibulae, humeri, ulnae, and radii. As the disease progresses, the metaphyses may be affected as well, but the epiphyses are spared. Sclerotic changes at the skull base may be present. The onset of the disease is usually during childhood and almost always before the age of 30. Most patients present with limb pain, muscular weakness, a waddling gait, and easy fatigability. Systemic manifestations such as anemia, leukopenia, and hepatosplenomegaly occur occasionally (summary by Janssens et al., 2006).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutations in the beta-1 transforming growth factor gene (TGFB1, 190180.0001);

Prefixed ID : #131300;

Details

Origin ID

131300;

UMLS CUI

C0011989;

Automatic exact mappings (from CISMeF team)
- Cisplatin/Dexamethasone/Etoposide [NCIt concept]
- Convection-Enhanced Delivery [NCIt concept]
- Cranioectodermal dysplasia [ORDO Disease]
- Cranioectodermal dysplasia [ICD-11 More detail]
- Cyclophosphamide/Doxorubicin/Etoposide [NCIt concept]
- Dementia due to Parkinson disease [ICD-11 Subcategory]
- TGFB1 wt Allele [NCIt concept]
- atypical autism [DO Concept]
- transforming growth factor beta 1 [ORDO Gene]
- transforming growth factor beta 1 [HGNC gene]
Currated CISMeF NLP mapping
- Camurati Engelmann disease [Disease (Nov.)]
- Camurati-Engelmann Syndrome [NCIt concept]
- Camurati-Engelmann disease [DO Concept]
- Camurati-Engelmann disease [ORDO Disease]
- Camurati-Engelmann syndrome [MeSH concept]
- Diaphyseal dysplasia [HPO term]
- Diaphyseal dysplasia (disorder) [SNOMED CT concept]
- Progressive diaphyseal dysplasia [PASCAL descriptor]
- Progressive diaphyseal dysplasia [ICD-10 Sub-category]
- Progressive diaphyseal dysplasia [ICD-11 More detail]
- Progressive diaphyseal dysplasia [MedDRA Preferred Term]
- Progressive diaphyseal dysplasia [ICD-10 Sub-category (who)]
- Progressive diaphyseal dysplasia (disorder) [SNOMED CT concept]
- camurati-engelmann syndrome [MeSH Descriptor]
- diaphyseal dysplasia [SNOMED Notion]
DO Cross reference
- Camurati-Engelmann disease [DO Concept]
Genes related to phenotype
- Transforming growth factor, beta-1 [OMIM gene]
HPO term(s)
- Anemia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bone marrow hypocellularity [HPO term]
- Carious teeth [HPO term]
- Cortical thickening of long bone diaphyses [HPO term]
- Cranial nerve compression [HPO term]
- Deafness [HPO term]
- Delayed puberty [HPO term]
- Diaphyseal sclerosis [HPO term]
- Diplopia [HPO term]
- Easy fatigability [HPO term]
- Genu valgum [HPO term]
- Headache [HPO term]
- Hearing impairment [HPO term]
- Increased bone mineral density [HPO term]
- Juvenile onset [HPO term]
- Limb pain [HPO term]
- Lower limb pain [HPO term]
- Mandibular prognathia [HPO term]
- Muscle weakness [HPO term]
- Narrowing of medullary canal [HPO term]
- Optic nerve compression [HPO term]
- Poor appetite [HPO term]
- Proptosis [HPO term]
- Reduced subcutaneous adipose tissue [HPO term]
- Sclerosis of skull base [HPO term]
- Scoliosis [HPO term]
- Skeletal muscle atrophy [HPO term]
- Slender build [HPO term]
- Waddling gait [HPO term]
ORDO concept(s)
- Camurati-Engelmann disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Camurati Engelmann disease [Disease (Nov.)]
- Camurati-Engelmann Syndrome [NCIt concept]
- Camurati-Engelmann disease [ORDO Disease]
- Camurati-Engelmann disease [DO Concept]
- Camurati-Engelmann disease [MedDRA LLT]
- Camurati-Engelmann syndrome [MeSH concept]
- Diaphyseal dysplasia [HPO term]
- Diaphyseal dysplasia (disorder) [SNOMED CT concept]
- Diaphyseal sclerosis [HPO term]
- Engelmann syndrome [MedDRA LLT]
- Progressive diaphyseal dysplasia [ICD-10 Sub-category (who)]
- Progressive diaphyseal dysplasia [ICD-10 Sub-category]
- Progressive diaphyseal dysplasia [MedDRA Preferred Term]
- Progressive diaphyseal dysplasia (disorder) [SNOMED CT concept]
- camurati-engelmann syndrome [MeSH Descriptor]
- diaphyseal dysplasia [SNOMED Notion]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients