EXOSTOSES, MULTIPLE, TYPE II

General Information (adopted from Orphanet):

Synonyms, Signs: EXT2
Number of Symptoms 17
OrphanetNr:
OMIM Id: 133701
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:0010049) Short metacarpal 99 / 7739
3
(HPO:0000896) Rib exostoses 4 / 7739
4
(HPO:0000918) Scapular exostoses 4 / 7739
5
(HPO:0003105) Protuberances at ends of long bones 3 / 7739
6
(HPO:0002857) Genu valgum 144 / 7739
7
(HPO:0003068) Madelung-like forearm deformities 3 / 7739
8
(HPO:0006765) Chondrosarcoma 5 / 7739
9
(HPO:0002812) Coxa vara 58 / 7739
10
(HPO:0003276) Pelvic bone exostoses 4 / 7739
11
(HPO:0004322) Short stature frequent [HPO] 1232 / 7739
12
(HPO:0002318) Cervical myelopathy 10 / 7739
13
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
14
(OMIM) Increased risk of chondrosarcoma 2 / 7739
15
(HPO:0003621) Juvenile onset 105 / 7739
16
(OMIM) Short stature in less than 50% 2 / 7739
17
(OMIM) Exostoses in juxtaepiphyseal regions of the long bones 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Hereditary multiple exostoses is an autosomal dominant disorder characterized by multiple exostoses most commonly arising from the juxtaepiphyseal region of the long bones.
Genotype-Phenotype Correlations OMIM Francannet et al. (2001) identified mutations in 36 of the 38 families linked to EXT1 or EXT2. No mutations were found in 2 EXT1-linked families. Nine of the mutations occurred in the EXT2 gene. A severe phenotype ('S') ...
Molecular genetics OMIM In a family with multiple exostoses, Stickens et al. (1996) identified a 4-bp deletion in the EXT2 gene (608210.0001), resulting in a premature stop codon and truncated gene product. Stickens et al. (1996) speculated that a second mutation ...