Spondyloepiphyseal Dysplasia, Kimberley Type malady
Genetic diseases, Bone diseases, Fetal diseases, Rare diseases categories
Aliases & Descriptions for Spondyloepiphyseal Dysplasia, Kimberley Type:
MalaCards categories: See all MalaCards categories (disease lists)
Global: Genetic diseases, Fetal diseases, Rare diseases
Anatomical: Bone diseases
Characteristics (Orphanet epidemiological data):51
spondyloepiphyseal dysplasia, kimberley type:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal
UniProtKB/Swiss-Prot:67 Spondyloepiphyseal dysplasia type Kimberley: Spondyloepiphyseal dysplasias are a heterogeneous group of congenital chondrodysplasias that specifically affect epiphyses and vertebrae. The autosomal dominant SEDK is associated with premature degenerative arthropathy.
MalaCards based summary: Spondyloepiphyseal Dysplasia, Kimberley Type, is also known as spondyloepiphyseal dysplasia type kimberley, and has symptoms including skeletal dysplasia, osteoarthritis and micromelia. An important gene associated with Spondyloepiphyseal Dysplasia, Kimberley Type is ACAN (Aggrecan). Affiliated tissues include bone.
Description from OMIM:49 608361
Symptoms by clinical synopsis from OMIM:608361
Clinical features from OMIM:608361
Symptoms:51 (show all 8)
HPO human phenotypes related to Spondyloepiphyseal Dysplasia, Kimberley Type:(show all 15)
MalaCards organs/tissues related to Spondyloepiphyseal Dysplasia, Kimberley Type:33
Search GEO for disease gene expression data for Spondyloepiphyseal Dysplasia, Kimberley Type.
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet