Spondyloepiphyseal dysplasia, Kimberley type

Spondyloepiphyseal dysplasia, Kimberley type (SEDK) is characterized by short stature and premature degenerative arthropathy.



Input patient's signs and symptoms


Narrow down the case reports



Total: 1 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(21.2%)		 28396070
 Novel pathogenic ACAN variants in non-syndromic short stature patients.
Hu X, Gui B, Su J, Li H, Li N, Yu T, Zhang Q, Xu Y, Li G, Chen Y, Qing Y, , Li C, Luo J, Fan X, Ding Y, Li J, Wang J, Wang X, Chen S, Shen Y.
Clin Chim Acta. 2017;469:126-129.
Spondyloepimetaphyseal dysplasia
ACAN
Adult Aggrecans Child Dwarfism Females Homo sapiens Infant Male Middle Aged X-Ray Computed Tomography
        

Phenotype(s) retrieved from Orphanet

    Total: 7

HPO ID Term Frequency
HP:0000926 Platyspondyly Very frequent (99-80%)
HP:0002655 Spondyloepiphyseal dysplasia Very frequent (99-80%)
HP:0002758 Osteoarthritis Very frequent (99-80%)
HP:0002983 Micromelia Very frequent (99-80%)
HP:0003508 Proportionate short stature Very frequent (99-80%)
HP:0005930 Abnormality of epiphysis morphology Very frequent (99-80%)
HP:0010306 Short thorax Very frequent (99-80%)


Phenotype(s) retrieved from case reports

    Total: 2

HPO ID Term # of case reports
HP:0002651 Spondyloepimetaphyseal dysplasia 1
HP:0004322 Short stature 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
ACAN aggrecan 176