Genochondromatosis type 1

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 6
OrphanetNr: 85197
OMIM Id: 137360
ICD-10:
UMLs: C1300229
MeSH:
MedDRA:
Snomed: 389264005

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Primary bone dysplasia with disorganized development of skeletal components
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0005701) Multiple enchondromatosis Very frequent [Orphanet] 11 / 7739
2
(HPO:0000924) Abnormality of the skeletal system 114 / 7739
3
(HPO:0002815) Abnormality of the knee Very frequent [Orphanet] 19 / 7739
4
(HPO:0006660) Aplastic clavicles Very frequent [Orphanet] 70 / 7739
5
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
6
(OMIM) Chondromatosis of clavicle, upper humerus, and lower femur 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Le Merrer et al. (1991) described 4 patients from the same family with a characteristic localization of chondromatosis: clavicle, upper end of humerus, and lower end of femur (hence, 'geno-' for knee). The patients were a mother and ...