Exostoses, multiple, type I

Preferred Label : Exostoses, multiple, type I;

Symbol : EXT1;

CISMeF acronym : EXT1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : EXT; Multiple osteochondromas; Multiple cartilaginous exostoses; OSTEOCHONDROMATOSIS; Diaphyseal aclasis;

Description : Multiple hereditary exostoses (EXT) is an autosomal dominant disorder characterized by multiple projections of bone capped by cartilage, most numerous in the metaphyses of long bones, but also occurring on the diaphyses of long bones. Flat bones, vertebrae, and the ribs may also be affected, but the skull is usually not involved. Deformity of the legs, forearms (resembling Madelung deformity), and hands is frequent (Peterson, 1989). Two conditions in which multiple exostoses occur are metachondromatosis (156250) and the Langer-Giedion syndrome (LGS; 150230); the latter condition is also known as trichorhinophalangeal syndrome type II. Furthermore, exostosis-like lesions occur with fibrodysplasia ossificans progressiva (FOP; 135100), occipital horn syndrome (304150), and the adult stage of hereditary hypophosphatemia (see 307800); these exostoses are located at sites of tendon and muscle attachment. A relatively rare variant of the supracondylar process, on the anteromedial surface of the distal humerus, can be confused with an exostosis; the variant is said to be present in about 1% of persons of European descent (Silverman, 1985).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutations in the exostosin 1 gene (EXT1, 133700.0001);

Neoplasia : Increased risk of chondrosarcoma (mean age of onset 31 years);

Prefixed ID : #133700;

Details

Origin ID

133700;

UMLS CUI

C0015306;

Automatic exact mappings (from CISMeF team)
- EXT1 Gene [NCIt concept]
- EXT1 gene [LOINC component]
- EXT1 wt Allele [NCIt concept]
- Exostosin-1 [NCIt concept]
- Multiple osteochondroma of long bone (disorder) [SNOMED CT concept]
- Ollier disease [DO Concept]
- exostosin glycosyltransferase 1 [HGNC gene]
- exostosin glycosyltransferase 1 [ORDO Gene]
Broader ORDO disease(s)
- Multiple osteochondromas [ORDO Disease]
Currated CISMeF NLP mapping
- Multiple Osteochondromas [NCIt concept]
- Multiple congenital exostoses [ICD-10 Sub-category]
- Multiple congenital exostosis (disorder) [SNOMED CT concept]
- Multiple osteochondromas [ICD-11 Sub-sub category]
- Multiple osteochondromas [ORDO Disease]
- Osteochondromatosis [PASCAL descriptor]
- Osteochondromatosis (morphologic abnormality) [SNOMED CT concept]
- exostoses, multiple hereditary [MeSH Descriptor]
- exostoses, multiple hereditary [MeSH concept]
- osteochondromatosis [MeSH Descriptor]
- osteochondromatosis [MeSH concept]
- osteochondromatosis [Radlex concept]
- osteochondromatosis, nos [SNOMED Notion]
DO Cross reference
- hereditary multiple exostoses [DO Concept]
Genes related to phenotype
- Exostosin glycosyltransferase 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Cervical myelopathy [HPO term]
- Childhood onset [HPO term]
- Chondrosarcoma [HPO term]
- Coxa vara [HPO term]
- Genu valgum [HPO term]
- Juvenile onset [HPO term]
- Madelung-like forearm deformities [HPO term]
- Multiple exostoses [HPO term]
- Pelvic bone exostoses [HPO term]
- Peripheral nerve compression [HPO term]
- Protuberances at ends of long bones [HPO term]
- Rib exostoses [HPO term]
- Scapular exostoses [HPO term]
- Short metacarpal [HPO term]
- Short stature [HPO term]
ORDO concept(s)
- Multiple osteochondromas [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Hereditary Multiple Exostoses [NCIt concept]
- Multiple congenital exostoses [ICD-10 Sub-category]
- Multiple congenital exostosis (disorder) [SNOMED CT concept]
- Multiple exostoses [HPO term]
- Multiple hereditary exostosis [MedDRA Preferred Term]
- Multiple hereditary exostosis [MedDRA LLT]
- Multiple osteochondromas [ORDO Disease]
- exostoses, multiple hereditary [MeSH Descriptor]
- exostoses, multiple hereditary [MeSH concept]
- hereditary multiple exostoses [Radlex concept]
- hereditary multiple exostoses [DO Concept]
- multiple exostoses syndrome [SNOMED Notion]
- multiple hereditary exostoses [Disease (Nov.)]
- osteochondromatosis [Radlex concept]
- osteochondromatosis syndrome [SNOMED Notion]

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