Spondyloepiphyseal Dysplasia, Kimberley Type malady

MalaCards: Spondyloepiphyseal Dysplasia, Kimberley Type, also known as mucopolysaccharidosis iv, is related to pseudoachondroplasia and schimke immunoosseous dysplasia. An important gene associated with Spondyloepiphyseal Dysplasia, Kimberley Type is ACAN (aggrecan).

OMIM: 608361

spondyloepiphyseal dysplasia, kimberley type 33 mucopolysaccharidosis iv 43

Diseases related to spondyloepiphyseal dysplasia, kimberley type by text searches and GeneDecks gene sharing:

id	Related Disease	Score	Top Affiliating Genes
1	pseudoachondroplasia	6.3
2	schimke immunoosseous dysplasia	6.3
3	sulfate transporter-related osteochondrodysplasia	6.3
4	spondyloepiphyseal dysplasia maroteaux type	6.3
5	spondyloepiphyseal dysplasia omani type	6.3
6	spondyloepiphyseal dysplasia-brachydactyly and distinctive speech	6.3
7	x-linked spondyloepiphyseal dysplasia tarda	6.3
8	collagenopathy, types ii and xi	6.3
9	osteochondrodysplasia	6.3

Clinical features from OMIM: 608361

Approved drugs:

Drug clinical trials:

Genes related to spondyloepiphyseal dysplasia, kimberley type according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	ACAN	aggrecan	11.1	Disorders