Upington disease

General Information (adopted from Orphanet):

Synonyms, Signs: PERTHES-LIKE HIP DISEASE, ENCHONDROMATA, AND ECCHONDROMATA
Hip dysplasia - enchondromata - ecchondroma
Number of Symptoms 14
OrphanetNr: 3408
OMIM Id: 191520
ICD-10: M91.8
UMLs: C1860596
MeSH: C536472
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 1 family [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: No data available
[Orphanet]

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:0008812) Flattened femoral head 3 / 7739
2
 (HPO:0011867) Abnormality of the wing of the ilium Very frequent [Orphanet] 123 / 7739
3
 (HPO:0002823) Abnormality of the femur Very frequent [Orphanet] 61 / 7739
4
 (HPO:0006429) Broad femoral neck 18 / 7739
5
 (HPO:0005701) Multiple enchondromatosis Very frequent [Orphanet] 11 / 7739
6
 (HPO:0003365) Arthralgia of the hip 10 / 7739
7
 (HPO:0100777) Exostoses Very frequent [Orphanet] 32 / 7739
8
 (HPO:0002829) Arthralgia 79 / 7739
9
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
10
 (HPO:0001385) Hip dysplasia Very frequent [Orphanet] 242 / 7739
11
 (OMIM) Ecchondromata (cartilaginous tumor projecting under periosteum) 1 / 7739
12
 (OMIM) Premature closure of the capital femoral epiphyses 1 / 7739
13
 (MedDRA:10069069) Enchondroma 2 / 7739
14
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: