Terminology Service for NFDI4Health
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Camurati-Engelmann Syndrome

Go to external page http://purl.obolibrary.org/obo/NCIT_C84610

An autosomal dominant skeletal disorder caused by mutations in the TGFB1 gene. It is characterized by thickening of the bones, particularly the long bones of the extremities. It is associated with muscle weakness and tiredness. [ ]

Term info

Label

Camurati-Engelmann Syndrome

Synonyms
  • Camurati-Engelmann Syndrome
  • Camurati-Englemann Disease
  • Progressive Diaphyseal Dysplasia
Subsets

NCIT_C90259, NCIT_C118467

ALT DEFINITION

An autosomal dominant form of craniotubular hyperostosis due to mutation(s) in the TGFB1 gene, encoding transforming growth factor beta-1. In addition to the long bone dysplasia, anemia, leukopenia, and hepatosplenomegaly may occur.

Has NICHD Parent

http://purl.obolibrary.org/obo/NCIT_C28193

NICHD Hierarchy Term

Progressive Diaphyseal Dysplasia

Preferred Name

Camurati-Engelmann Syndrome

Semantic Type

Disease or Syndrome

UMLS CUI

C0011989

code

C84610