EXOSTOSES, MULTIPLE, TYPE I

General Information (adopted from Orphanet):

Synonyms, Signs: MULTIPLE OSTEOCHONDROMAS
OSTEOCHONDROMATOSIS
DIAPHYSEAL ACLASIS
MULTIPLE CARTILAGINOUS EXOSTOSES
EXT1
EXT
Number of Symptoms 14
OrphanetNr:
OMIM Id: 133700
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset: Juvenile onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0003406) Peripheral nerve compression 3 / 7739
2
(HPO:0003276) Pelvic bone exostoses 4 / 7739
3
(HPO:0003068) Madelung-like forearm deformities 3 / 7739
4
(HPO:0000918) Scapular exostoses 4 / 7739
5
(HPO:0003105) Protuberances at ends of long bones 3 / 7739
6
(HPO:0000896) Rib exostoses 4 / 7739
7
(HPO:0010049) Short metacarpal 99 / 7739
8
(HPO:0002857) Genu valgum 144 / 7739
9
(HPO:0002812) Coxa vara 58 / 7739
10
(OMIM) Bilateral overriding of single toes 1 / 7739
11
(OMIM) Exostoses in juxtaepiphyseal regions of long bones 1 / 7739
12
(OMIM) Short stature in less than 50% 2 / 7739
13
(OMIM) Increased risk of chondrosarcoma 2 / 7739
14
(HPO:0002318) Cervical myelopathy 10 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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, ...
Clinical Description OMIM Krooth et al. (1961) reported on a study of the families of 6 persons with diaphyseal aclasis (multiple exostoses). The families were Chamorros, a Micronesian people who live in the Mariana Islands. The frequency of diaphyseal aclasis in ...
Genotype-Phenotype Correlations OMIM In 36 of 38 EXT families linked to EXT1 or EXT2, Francannet et al. (2001) identified mutations: 27 were located in EXT1 and were almost randomly distributed over the 9 exons; 90% caused premature termination of the EXT1 ...
Molecular genetics OMIM In 2 of 23 unrelated families with multiple exostoses type I, Ahn et al. (1995) identified a 1-bp deletion in the EXT1 gene (608177.0001) that segregated with the disease. In 4 of 6 EXT families demonstrating linkage to ...